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ANDREA BALLABIO

TitleProfessor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
AddressJan and Dan Duncan Neurological Research Institute
Room N1370.04
Houston TX 77030
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Skibitzki O, Capellini G, Yamamoto Y, Zaumseil P, Schubert MA, Schroeder T, Ballabio A, Bergamaschini R, Salvalaglio M, Miglio L, Montalenti F. Reduced-Pressure Chemical Vapor Deposition Growth of Isolated Ge Crystals and Suspended Layers on Micrometric Si Pillars. ACS Appl Mater Interfaces. 2016 Oct 5; 8(39):26374-26380. PMID: 27603117.
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    2. Napolitano G, Ballabio A. TFEB at a glance. J Cell Sci. 2016 Jul 1; 129(13):2475-81. PMID: 27252382; PMCID: PMC4958300 [Available on 07/01/17].
    3. Pastore N, Brady OA, Diab HI, Martina JA, Sun L, Huynh T, Lim JA, Zare H, Raben N, Ballabio A, Puertollano R. TFEB and TFE3 cooperate in the regulation of the innate immune response in activated macrophages. Autophagy. 2016 Aug 2; 12(8):1240-58. PMID: 27171064; PMCID: PMC4968228 [Available on 05/12/17].
    4. Song JX, Sun YR, Peluso I, Zeng Y, Yu X, Lu JH, Xu Z, Wang MZ, Liu LF, Huang YY, Chen LL, Durairajan SS, Zhang HJ, Zhou B, Zhang HQ, Lu A, Ballabio A, Medina DL, Guo Z, Li M. A novel curcumin analog binds to and activates TFEB in vitro and in vivo independent of MTOR inhibition. Autophagy. 2016 Aug 2; 12(8):1372-89. PMID: 27172265; PMCID: PMC4968239 [Available on 05/12/17].
    5. Rega LR, Polishchuk E, Montefusco S, Napolitano G, Tozzi G, Zhang J, Bellomo F, Taranta A, Pastore A, Polishchuk R, Piemonte F, Medina DL, Catz SD, Ballabio A, Emma F. Activation of the transcription factor EB rescues lysosomal abnormalities in cystinotic kidney cells. Kidney Int. 2016 Apr; 89(4):862-73. PMID: 26994576.
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    6. Martini-Stoica H, Xu Y, Ballabio A, Zheng H. The Autophagy-Lysosomal Pathway in Neurodegeneration: A TFEB Perspective. Trends Neurosci. 2016 Apr; 39(4):221-34. PMID: 26968346; PMCID: PMC4928589 [Available on 04/01/17].
    7. Reddy K, Cusack CL, Nnah IC, Khayati K, Saqcena C, Huynh TB, Noggle SA, Ballabio A, Dobrowolski R. Dysregulation of Nutrient Sensing and CLEARance in Presenilin Deficiency. Cell Rep. 2016 Mar 8; 14(9):2166-79. PMID: 26923592; PMCID: PMC4793148.
    8. Ballabio A. The awesome lysosome. EMBO Mol Med. 2016 Feb; 8(2):73-6. PMID: 26787653; PMCID: PMC4734841.
    9. Bouché V, Perez Espinosa A, Leone L, Sardiello M, Ballabio A, Botas J. Drosophila Mitf regulates the V-ATPase and the lysosomal-autophagic pathway. Autophagy. 2016 Jan 13; 0. PMID: 26761346.
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    10. Vakarin V, Chaisakul P, Frigerio J, Ballabio A, Le Roux X, Coudevylle JR, Bouville D, Perez-Galacho D, Vivien L, Isella G, Marris-Morini D. Sharp bends and Mach-Zehnder interferometer based on Ge-rich-SiGe waveguides on SiGe graded buffer. Opt Express. 2015 Nov 30; 23(24):30821-6. PMID: 26698715.
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    11. Xiao Q, Yan P, Ma X, Liu H, Perez R, Zhu A, Gonzales E, Tripoli DL, Czerniewski L, Ballabio A, Cirrito JR, Diwan A, Lee JM. Neuronal-Targeted TFEB Accelerates Lysosomal Degradation of APP, Reducing A? Generation and Amyloid Plaque Pathogenesis. J Neurosci. 2015 Sep 2; 35(35):12137-51. PMID: 26338325.
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    12. Bietti S, Esposito L, Fedorov A, Ballabio A, Martinelli A, Sanguinetti S. Characterization and Effect of Thermal Annealing on InAs Quantum Dots Grown by Droplet Epitaxy on GaAs(111)A Substrates. Nanoscale Res Lett. 2015 Dec; 10(1):930. PMID: 26058506.
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    13. Ballabio A, Naldini L. Fighting rare diseases: the model of the telethon research institutes in Italy. Hum Gene Ther. 2015 Apr; 26(4):183-5. PMID: 25901396.
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    14. Medina DL, Di Paola S, Peluso I, Armani A, De Stefani D, Venditti R, Montefusco S, Scotto-Rosato A, Prezioso C, Forrester A, Settembre C, Wang W, Gao Q, Xu H, Sandri M, Rizzuto R, De Matteis MA, Ballabio A. Lysosomal calcium signalling regulates autophagy through calcineurin and ?TFEB. Nat Cell Biol. 2015 Mar; 17(3):288-99. PMID: 25720963; PMCID: PMC4801004.
    15. Parenti G, Andria G, Ballabio A. Lysosomal storage diseases: from pathophysiology to therapy. Annu Rev Med. 2015; 66:471-86. PMID: 25587658.
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    16. Di Fruscio G, Schulz A, De Cegli R, Savarese M, Mutarelli M, Parenti G, Banfi S, Braulke T, Nigro V, Ballabio A. Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway. Autophagy. 2015; 11(6):928-38. PMID: 26075876.
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    17. Lapierre LR, Kumsta C, Sandri M, Ballabio A, Hansen M. Transcriptional and epigenetic regulation of autophagy in aging. Autophagy. 2015; 11(6):867-80. PMID: 25836756.
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    18. Medina DL, Ballabio A. Lysosomal calcium regulates autophagy. Autophagy. 2015; 11(6):970-1. PMID: 26000950.
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    19. Frankel LB, Di Malta C, Wen J, Eskelinen EL, Ballabio A, Lund AH. A non-conserved miRNA regulates lysosomal function and impacts on a human lysosomal storage disorder. Nat Commun. 2014; 5:5840. PMID: 25524633.
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    20. Garavelli L, Santoro L, Iori A, Gargano G, Braibanti S, Pedori S, Melli N, Frattini D, Zampini L, Galeazzi T, Padella L, Pepe S, Wischmeijer A, Rosato S, Ivanovski I, Iughetti L, Gelmini C, Bernasconi S, Superti-Furga A, Ballabio A, Gabrielli O. Multiple sulfatase deficiency with neonatal manifestation. Ital J Pediatr. 2014; 40:86. PMID: 25516103; PMCID: PMC4299397.
    21. Settembre C, Ballabio A. Cell metabolism: autophagy transcribed. Nature. 2014 Dec 4; 516(7529):40-1. PMID: 25383529.
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    22. Quintavalle C, Di Costanzo S, Zanca C, Tasset I, Fraldi A, Incoronato M, Mirabelli P, Monti M, Ballabio A, Pucci P, Cuervo AM, Condorelli G. Phosphorylation-regulated degradation of the tumor-suppressor form of PED by chaperone-mediated autophagy in lung cancer cells. J Cell Physiol. 2014 Oct; 229(10):1359-68. PMID: 24477641; PMCID: PMC4310550.
    23. Polito VA, Li H, Martini-Stoica H, Wang B, Yang L, Xu Y, Swartzlander DB, Palmieri M, di Ronza A, Lee VM, Sardiello M, Ballabio A, Zheng H. Selective clearance of aberrant tau proteins and rescue of neurotoxicity by transcription factor EB. EMBO Mol Med. 2014 Sep; 6(9):1142-60. PMID: 25069841; PMCID: PMC4197862.
    24. Emanuel R, Sergin I, Bhattacharya S, Turner JN, Epelman S, Settembre C, Diwan A, Ballabio A, Razani B. Induction of lysosomal biogenesis in atherosclerotic macrophages can rescue lipid-induced lysosomal dysfunction and downstream sequelae. Arterioscler Thromb Vasc Biol. 2014 Sep; 34(9):1942-52. PMID: 25060788; PMCID: PMC4140993.
    25. Settembre C, Ballabio A. Lysosome: regulator of lipid degradation pathways. Trends Cell Biol. 2014 Dec; 24(12):743-50. PMID: 25061009; PMCID: PMC4247383.
    26. Nur BG, M?hç? E, Pepe S, Bibero?lu G, Ezgü FS, Ballabio A, Öztekin O, Dursun O. Neonatal multiple sulfatase deficiency with a novel mutation and review of the literature. Turk J Pediatr. 2014 Jul-Aug; 56(4):418-22. PMID: 25818962.
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    27. Polishchuk EV, Concilli M, Iacobacci S, Chesi G, Pastore N, Piccolo P, Paladino S, Baldantoni D, van IJzendoorn SC, Chan J, Chang CJ, Amoresano A, Pane F, Pucci P, Tarallo A, Parenti G, Brunetti-Pierri N, Settembre C, Ballabio A, Polishchuk RS. Wilson disease protein ATP7B utilizes lysosomal exocytosis to maintain copper homeostasis. Dev Cell. 2014 Jun 23; 29(6):686-700. PMID: 24909901; PMCID: PMC4070386.
    28. Tardieu M, Zérah M, Husson B, de Bournonville S, Deiva K, Adamsbaum C, Vincent F, Hocquemiller M, Broissand C, Furlan V, Ballabio A, Fraldi A, Crystal RG, Baugnon T, Roujeau T, Heard JM, Danos O. Intracerebral administration of adeno-associated viral vector serotype rh.10 carrying human SGSH and SUMF1 cDNAs in children with mucopolysaccharidosis type IIIA disease: results of a phase I/II trial. Hum Gene Ther. 2014 Jun; 25(6):506-16. PMID: 24524415.
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    29. Settembre C, Ballabio A. Lysosomal adaptation: how the lysosome responds to external cues. Cold Spring Harb Perspect Biol. 2014 Jun; 6(6). PMID: 24799353; PMCID: PMC4031961.
    30. Moskot M, Montefusco S, Jakóbkiewicz-Banecka J, Mozolewski P, W?grzyn A, Di Bernardo D, W?grzyn G, Medina DL, Ballabio A, Gabig-Cimi?ska M. The phytoestrogen genistein modulates lysosomal metabolism and transcription factor EB (TFEB) activation. J Biol Chem. 2014 Jun 13; 289(24):17054-69. PMID: 24770416; PMCID: PMC4059147.
    31. Zurleni T, Gjoni E, Ballabio A, Casieri R, Ceriani P, Marzoli L, Zurleni F. Sixth and seventh tumor-node-metastasis staging system compared in gastric cancer patients. World J Gastrointest Surg. 2013 Nov 27; 5(11):287-93. PMID: 24520426; PMCID: PMC3920116.
    32. Settembre C, Ballabio A. New targets for old diseases: lessons from mucolipidosis type II. EMBO Mol Med. 2013 Dec; 5(12):1801-3. PMID: 24293315; PMCID: PMC3914528.
    33. Vantaggiato C, Crimella C, Airoldi G, Polishchuk R, Bonato S, Brighina E, Scarlato M, Musumeci O, Toscano A, Martinuzzi A, Santorelli FM, Ballabio A, Bresolin N, Clementi E, Bassi MT. Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15. Brain. 2013 Oct; 136(Pt 10):3119-39. PMID: 24030950; PMCID: PMC3784282.
    34. Serio G, Zampatti C, Ballabio A, Ricci R, Martini M, Zurleni F. Neurofibromatosis 1 presenting with multiple duodenal GISTS associated with a somatostatin-producing D cell neoplasm. Endocr Pathol. 2013 Jun; 24(2):100-5. PMID: 23564025.
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    35. Feeney EJ, Spampanato C, Puertollano R, Ballabio A, Parenti G, Raben N. What else is in store for autophagy? Exocytosis of autolysosomes as a mechanism of TFEB-mediated cellular clearance in Pompe disease. Autophagy. 2013 Jul; 9(7):1117-8. PMID: 23669057; PMCID: PMC3722326.
    36. Settembre C, Fraldi A, Medina DL, Ballabio A. Signals from the lysosome: a control centre for cellular clearance and energy metabolism. Nat Rev Mol Cell Biol. 2013 May; 14(5):283-96. PMID: 23609508; PMCID: PMC4387238.
    37. Settembre C, De Cegli R, Mansueto G, Saha PK, Vetrini F, Visvikis O, Huynh T, Carissimo A, Palmer D, Klisch TJ, Wollenberg AC, Di Bernardo D, Chan L, Irazoqui JE, Ballabio A. TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop. Nat Cell Biol. 2013 Jun; 15(6):647-58. PMID: 23604321; PMCID: PMC3699877.
    38. Spampanato C, Feeney E, Li L, Cardone M, Lim JA, Annunziata F, Zare H, Polishchuk R, Puertollano R, Parenti G, Ballabio A, Raben N. Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease. EMBO Mol Med. 2013 May; 5(5):691-706. PMID: 23606558; PMCID: PMC3662313.
    39. Ferron M, Settembre C, Shimazu J, Lacombe J, Kato S, Rawlings DJ, Ballabio A, Karsenty G. A RANKL-PKC?-TFEB signaling cascade is necessary for lysosomal biogenesis in osteoclasts. Genes Dev. 2013 Apr 15; 27(8):955-69. PMID: 23599343; PMCID: PMC3650231.
    40. Pastore N, Ballabio A, Brunetti-Pierri N. Autophagy master regulator TFEB induces clearance of toxic SERPINA1/?-1-antitrypsin polymers. Autophagy. 2013 Jul; 9(7):1094-6. PMID: 23584152; PMCID: PMC3722318.
    41. Sorrentino NC, D'Orsi L, Sambri I, Nusco E, Monaco C, Spampanato C, Polishchuk E, Saccone P, De Leonibus E, Ballabio A, Fraldi A. A highly secreted sulphamidase engineered to cross the blood-brain barrier corrects brain lesions of mice with mucopolysaccharidoses type IIIA. EMBO Mol Med. 2013 May; 5(5):675-90. PMID: 23568409; PMCID: PMC3662312.
    42. Pastore N, Blomenkamp K, Annunziata F, Piccolo P, Mithbaokar P, Maria Sepe R, Vetrini F, Palmer D, Ng P, Polishchuk E, Iacobacci S, Polishchuk R, Teckman J, Ballabio A, Brunetti-Pierri N. Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha-1-anti-trypsin deficiency. EMBO Mol Med. 2013 Mar; 5(3):397-412. PMID: 23381957; PMCID: PMC3598080.
    43. Simon AK, Ballabio A. T. rex attacks the lysosome. Nat Immunol. 2013 Jan; 14(1):10-2. PMID: 23238750.
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    44. Bachetti T, Chiesa S, Castagnola P, Bani D, Di Zanni E, Omenetti A, D'Osualdo A, Fraldi A, Ballabio A, Ravazzolo R, Martini A, Gattorno M, Ceccherini I. Autophagy contributes to inflammation in patients with TNFR-associated periodic syndrome (TRAPS). Ann Rheum Dis. 2013 Jun; 72(6):1044-52. PMID: 23117241.
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    45. Di Malta C, Fryer JD, Settembre C, Ballabio A. Autophagy in astrocytes: a novel culprit in lysosomal storage disorders. Autophagy. 2012 Dec; 8(12):1871-2. PMID: 23047468; PMCID: PMC3541309.
    46. Di Malta C, Fryer JD, Settembre C, Ballabio A. Astrocyte dysfunction triggers neurodegeneration in a lysosomal storage disorder. Proc Natl Acad Sci U S A. 2012 Aug 28; 109(35):E2334-42. PMID: 22826245; PMCID: PMC3435187.
    47. Lieberman AP, Puertollano R, Raben N, Slaugenhaupt S, Walkley SU, Ballabio A. Autophagy in lysosomal storage disorders. Autophagy. 2012 May 1; 8(5):719-30. PMID: 22647656; PMCID: PMC3378416.
    48. Klionsky DJ, Abdalla FC, Abeliovich H, Abraham RT, Acevedo-Arozena A, Adeli K, Agholme L, Agnello M, Agostinis P, Aguirre-Ghiso JA, Ahn HJ, Ait-Mohamed O, Ait-Si-Ali S, Akematsu T, Akira S, Al-Younes HM, Al-Zeer MA, Albert ML, Albin RL, Alegre-Abarrategui J, Aleo MF, Alirezaei M, Almasan A, Almonte-Becerril M, Amano A, Amaravadi R, Amarnath S, Amer AO, Andrieu-Abadie N, Anantharam V, Ann DK, Anoopkumar-Dukie S, Aoki H, Apostolova N, Arancia G, Aris JP, Asanuma K, Asare NY, Ashida H, Askanas V, Askew DS, Auberger P, Baba M, Backues SK, Baehrecke EH, Bahr BA, Bai XY, Bailly Y, Baiocchi R, Baldini G, Balduini W, Ballabio A, Bamber BA, Bampton ET, Bánhegyi G, Bartholomew CR, Bassham DC, Bast RC, Batoko H, Bay BH, Beau I, Béchet DM, Begley TJ, Behl C, Behrends C, Bekri S, Bellaire B, Bendall LJ, Benetti L, Berliocchi L, Bernardi H, Bernassola F, Besteiro S, Bhatia-Kissova I, Bi X, Biard-Piechaczyk M, Blum JS, Boise LH, Bonaldo P, Boone DL, Bornhauser BC, Bortoluci KR, Bossis I, Bost F, Bourquin JP, Boya P, Boyer-Guittaut M, Bozhkov PV, Brady NR, Brancolini C, Brech A, Brenman JE, Brennand A, Bresnick EH, Brest P, Bridges D, Bristol ML, Brookes PS, Brown EJ, Brumell JH, Brunetti-Pierri N, Brunk UT, Bulman DE, Bultman SJ, Bultynck G, Burbulla LF, Bursch W, Butchar JP, Buzgariu W, Bydlowski SP, Cadwell K, Cahová M, Cai D, Cai J, Cai Q, Calabretta B, Calvo-Garrido J, Camougrand N, Campanella M, Campos-Salinas J, Candi E, Cao L, Caplan AB, Carding SR, Cardoso SM, Carew JS, Carlin CR, Carmignac V, Carneiro LA, Carra S, Caruso RA, Casari G, Casas C, Castino R, Cebollero E, Cecconi F, Celli J, Chaachouay H, Chae HJ, Chai CY, Chan DC, Chan EY, Chang RC, Che CM, Chen CC, Chen GC, Chen GQ, Chen M, Chen Q, Chen SS, Chen W, Chen X, Chen X, Chen X, Chen YG, Chen Y, Chen Y, Chen YJ, Chen Z, Cheng A, Cheng CH, Cheng Y, Cheong H, Cheong JH, Cherry S, Chess-Williams R, Cheung ZH, Chevet E, Chiang HL, Chiarelli R, Chiba T, Chin LS, Chiou SH, Chisari FV, Cho CH, Cho DH, Choi AM, Choi D, Choi KS, Choi ME, Chouaib S, Choubey D, Choubey V, Chu CT, Chuang TH, Chueh SH, Chun T, Chwae YJ, Chye ML, Ciarcia R, Ciriolo MR, Clague MJ, Clark RS, Clarke PG, Clarke R, Codogno P, Coller HA, Colombo MI, Comincini S, Condello M, Condorelli F, Cookson MR, Coombs GH, Coppens I, Corbalan R, Cossart P, Costelli P, Costes S, Coto-Montes A, Couve E, Coxon FP, Cregg JM, Crespo JL, Cronjé MJ, Cuervo AM, Cullen JJ, Czaja MJ, D'Amelio M, Darfeuille-Michaud A, Davids LM, Davies FE, De Felici M, de Groot JF, de Haan CA, De Martino L, De Milito A, De Tata V, Debnath J, Degterev A, Dehay B, Delbridge LM, Demarchi F, Deng YZ, Dengjel J, Dent P, Denton D, Deretic V, Desai SD, Devenish RJ, Di Gioacchino M, Di Paolo G, Di Pietro C, Díaz-Araya G, Díaz-Laviada I, Diaz-Meco MT, Diaz-Nido J, Dikic I, Dinesh-Kumar SP, Ding WX, Distelhorst CW, Diwan A, Djavaheri-Mergny M, Dokudovskaya S, Dong Z, Dorsey FC, Dosenko V, Dowling JJ, Doxsey S, Dreux M, Drew ME, Duan Q, Duchosal MA, Duff K, Dugail I, Durbeej M, Duszenko M, Edelstein CL, Edinger AL, Egea G, Eichinger L, Eissa NT, Ekmekcioglu S, El-Deiry WS, Elazar Z, Elgendy M, Ellerby LM, Eng KE, Engelbrecht AM, Engelender S, Erenpreisa J, Escalante R, Esclatine A, Eskelinen EL, Espert L, Espina V, Fan H, Fan J, Fan QW, Fan Z, Fang S, Fang Y, Fanto M, Fanzani A, Farkas T, Farré JC, Faure M, Fechheimer M, Feng CG, Feng J, Feng Q, Feng Y, Fésüs L, Feuer R, Figueiredo-Pereira ME, Fimia GM, Fingar DC, Finkbeiner S, Finkel T, Finley KD, Fiorito F, Fisher EA, Fisher PB, Flajolet M, Florez-McClure ML, Florio S, Fon EA, Fornai F, Fortunato F, Fotedar R, Fowler DH, Fox HS, Franco R, Frankel LB, Fransen M, Fuentes JM, Fueyo J, Fujii J, Fujisaki K, Fujita E, Fukuda M, Furukawa RH, Gaestel M, Gailly P, Gajewska M, Galliot B, Galy V, Ganesh S, Ganetzky B, Ganley IG, Gao FB, Gao GF, Gao J, Garcia L, Garcia-Manero G, Garcia-Marcos M, Garmyn M, Gartel AL, Gatti E, Gautel M, Gawriluk TR, Gegg ME, Geng J, Germain M, Gestwicki JE, Gewirtz DA, Ghavami S, et al. Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy. 2012 Apr; 8(4):445-544. PMID: 22966490; PMCID: PMC3404883.
    49. Gennarino VA, D'Angelo G, Dharmalingam G, Fernandez S, Russolillo G, Sanges R, Mutarelli M, Belcastro V, Ballabio A, Verde P, Sardiello M, Banfi S. Identification of microRNA-regulated gene networks by expression analysis of target genes. Genome Res. 2012 Jun; 22(6):1163-72. PMID: 22345618; PMCID: PMC3371699.
    50. Arteaga-Solis E, Settembre C, Ballabio A, Karsenty G. Sulfatases are determinants of alveolar formation. Matrix Biol. 2012 May; 31(4):253-60. PMID: 22366163; PMCID: PMC3340524.
    51. Settembre C, Zoncu R, Medina DL, Vetrini F, Erdin S, Erdin S, Huynh T, Ferron M, Karsenty G, Vellard MC, Facchinetti V, Sabatini DM, Ballabio A. A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB. EMBO J. 2012 Mar 7; 31(5):1095-108. PMID: 22343943; PMCID: PMC3298007.
    52. de Pablo-Latorre R, Saide A, Polishhuck EV, Nusco E, Fraldi A, Ballabio A. Impaired parkin-mediated mitochondrial targeting to autophagosomes differentially contributes to tissue pathology in lysosomal storage diseases. Hum Mol Genet. 2012 Apr 15; 21(8):1770-81. PMID: 22215441; PMCID: PMC3313794.
    53. Settembre C, Ballabio A. TFEB regulates autophagy: an integrated coordination of cellular degradation and recycling processes. Autophagy. 2011 Nov; 7(11):1379-81. PMID: 21785263.
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    54. Medina DL, Fraldi A, Bouche V, Annunziata F, Mansueto G, Spampanato C, Puri C, Pignata A, Martina JA, Sardiello M, Palmieri M, Polishchuk R, Puertollano R, Ballabio A. Transcriptional activation of lysosomal exocytosis promotes cellular clearance. Dev Cell. 2011 Sep 13; 21(3):421-30. PMID: 21889421; PMCID: PMC3173716.
    55. Palmieri M, Impey S, Kang H, di Ronza A, Pelz C, Sardiello M, Ballabio A. Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways. Hum Mol Genet. 2011 Oct 1; 20(19):3852-66. PMID: 21752829.
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    56. Bousquet J, Anto JM, Sterk PJ, Adcock IM, Chung KF, Roca J, Agusti A, Brightling C, Cambon-Thomsen A, Cesario A, Abdelhak S, Antonarakis SE, Avignon A, Ballabio A, Baraldi E, Baranov A, Bieber T, Bockaert J, Brahmachari S, Brambilla C, Bringer J, Dauzat M, Ernberg I, Fabbri L, Froguel P, Galas D, Gojobori T, Hunter P, Jorgensen C, Kauffmann F, Kourilsky P, Kowalski ML, Lancet D, Pen CL, Mallet J, Mayosi B, Mercier J, Metspalu A, Nadeau JH, Ninot G, Noble D, Oztürk M, Palkonen S, Préfaut C, Rabe K, Renard E, Roberts RG, Samolinski B, Schünemann HJ, Simon HU, Soares MB, Superti-Furga G, Tegner J, Verjovski-Almeida S, Wellstead P, Wolkenhauer O, Wouters E, Balling R, Brookes AJ, Charron D, Pison C, Chen Z, Hood L, Auffray C. Systems medicine and integrated care to combat chronic noncommunicable diseases. Genome Med. 2011; 3(7):43. PMID: 21745417; PMCID: PMC3221551.
    57. Bonaguri C, Melegari A, Ballabio A, Parmeggiani M, Russo A, Battistelli L, Aloe R, Trenti T, Lippi G. Italian multicentre study for application of a diagnostic algorithm in autoantibody testing for autoimmune rheumatic disease: conclusive results. Autoimmun Rev. 2011 Nov; 11(1):1-5. PMID: 21741498.
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    58. Settembre C, Di Malta C, Polito VA, Garcia Arencibia M, Vetrini F, Erdin S, Erdin SU, Huynh T, Medina D, Colella P, Sardiello M, Rubinsztein DC, Ballabio A. TFEB links autophagy to lysosomal biogenesis. Science. 2011 Jun 17; 332(6036):1429-33. PMID: 21617040; PMCID: PMC3638014.
    59. Spampanato C, De Leonibus E, Dama P, Gargiulo A, Fraldi A, Sorrentino NC, Russo F, Nusco E, Auricchio A, Surace EM, Ballabio A. Efficacy of a combined intracerebral and systemic gene delivery approach for the treatment of a severe lysosomal storage disorder. Mol Ther. 2011 May; 19(5):860-9. PMID: 21326216; PMCID: PMC3098632.
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    119. Brunetti-Pierri N, Andreucci MV, Tuzzi R, Vega GR, Gray G, McKeown C, Ballabio A, Andria G, Meroni G, Parenti G. X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability. Am J Med Genet A. 2003 Mar 1; 117A(2):164-8. PMID: 12567415.
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    120. Marconi R, De Fusco M, Aridon P, Plewnia K, Rossi M, Carapelli S, Ballabio A, Morgante L, Musolino R, Epifanio A, Micieli G, De Michele G, Casari G. Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23. Ann Neurol. 2003 Mar; 53(3):376-81. PMID: 12601705.
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    122. De Fusco M, Marconi R, Silvestri L, Atorino L, Rampoldi L, Morgante L, Ballabio A, Aridon P, Casari G. Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2. Nat Genet. 2003 Feb; 33(2):192-6. PMID: 12539047.
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    123. Reymond A, Marigo V, Yaylaoglu MB, Leoni A, Ucla C, Scamuffa N, Caccioppoli C, Dermitzakis ET, Lyle R, Banfi S, Eichele G, Antonarakis SE, Ballabio A. Human chromosome 21 gene expression atlas in the mouse. Nature. 2002 Dec 5; 420(6915):582-6. PMID: 12466854.
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    124. Ferrante P, Messali S, Meroni G, Ballabio A. Molecular and biochemical characterisation of a novel sulphatase gene: Arylsulfatase G (ARSG). Eur J Hum Genet. 2002 Dec; 10(12):813-8. PMID: 12461688.
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    125. Brunetti-Pierri N, Corso G, Rossi M, Ferrari P, Balli F, Rivasi F, Annunziata I, Ballabio A, Russo AD, Andria G, Parenti G. Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase. Am J Hum Genet. 2002 Oct; 71(4):952-8. PMID: 12189593; PMCID: PMC378549.
    126. Schiaffino MV, Dellambra E, Cortese K, Baschirotto C, Bondanza S, Clementi M, Nucci P, Ballabio A, Tacchetti C, De Luca M. Effective retrovirus-mediated gene transfer in normal and mutant human melanocytes. Hum Gene Ther. 2002 May 20; 13(8):947-57. PMID: 12031127.
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    127. Berti C, Messali S, Ballabio A, Reymond A, Meroni G. TRIM9 is specifically expressed in the embryonic and adult nervous system. Mech Dev. 2002 May; 113(2):159-62. PMID: 11960705.
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    128. Rugarli EI, Di Schiavi E, Hilliard MA, Arbucci S, Ghezzi C, Facciolli A, Coppola G, Ballabio A, Bazzicalupo P. The Kallmann syndrome gene homolog in C. elegans is involved in epidermal morphogenesis and neurite branching. Development. 2002 Mar; 129(5):1283-94. PMID: 11874923.
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    129. Barbieri AM, Broccoli V, Bovolenta P, Alfano G, Marchitiello A, Mocchetti C, Crippa L, Bulfone A, Marigo V, Ballabio A, Banfi S. Vax2 inactivation in mouse determines alteration of the eye dorsal-ventral axis, misrouting of the optic fibres and eye coloboma. Development. 2002 Feb; 129(3):805-13. PMID: 11830579.
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    130. Pierantoni GM, Bulfone A, Pentimalli F, Fedele M, Iuliano R, Santoro M, Chiariotti L, Ballabio A, Fusco A. The homeodomain-interacting protein kinase 2 gene is expressed late in embryogenesis and preferentially in retina, muscle, and neural tissues. Biochem Biophys Res Commun. 2002 Jan 25; 290(3):942-7. PMID: 11798164.
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    131. Errico A, Ballabio A, Rugarli EI. Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. Hum Mol Genet. 2002 Jan 15; 11(2):153-63. PMID: 11809724.
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    132. den Hollander AI, Ghiani M, de Kok YJ, Wijnholds J, Ballabio A, Cremers FP, Broccoli V. Isolation of Crb1, a mouse homologue of Drosophila crumbs, and analysis of its expression pattern in eye and brain. Mech Dev. 2002 Jan; 110(1-2):203-7. PMID: 11744384.
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    133. Forus A, D'Angelo A, Henriksen J, Merla G, Maelandsmo GM, Flørenes VA, Olivieri S, Bjerkehagen B, Meza-Zepeda LA, del Vecchio Blanco F, Müller C, Sanvito F, Kononen J, Nesland JM, Fodstad Ø, Reymond A, Kallioniemi OP, Arrigoni G, Ballabio A, Myklebost O, Zollo M. Amplification and overexpression of PRUNE in human sarcomas and breast carcinomas-a possible mechanism for altering the nm23-H1 activity. Oncogene. 2001 Oct 18; 20(47):6881-90. PMID: 11687967.
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    134. Kayserili H, Cox TC, Cox LL, Basaran S, Kiliç G, Ballabio A, Yüksel-Apak M. Molecular characterisation of a new case of microphthalmia with linear skin defects (MLS). J Med Genet. 2001 Jun; 38(6):411-7. PMID: 11424926; PMCID: PMC1734893.
    135. Reymond A, Meroni G, Fantozzi A, Merla G, Cairo S, Luzi L, Riganelli D, Zanaria E, Messali S, Cainarca S, Guffanti A, Minucci S, Pelicci PG, Ballabio A. The tripartite motif family identifies cell compartments. EMBO J. 2001 May 1; 20(9):2140-51. PMID: 11331580; PMCID: PMC125245.
    136. Ahmad W, Noci S, Faiyaz ul Haque M, Sarno T, Aridon P, Ahmad MM, Amin-Ud-Din M, Rafiq MA, ul Haque S, De Fusco M, Ballabio A, Franco B, Casari G. Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani family. Am J Med Genet. 2001 Apr 15; 100(1):62-5. PMID: 11337751.
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    137. Cairo S, Merla G, Urbinati F, Ballabio A, Reymond A. WBSCR14, a gene mapping to the Williams--Beuren syndrome deleted region, is a new member of the Mlx transcription factor network. Hum Mol Genet. 2001 Mar 15; 10(6):617-27. PMID: 11230181.
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    138. Font MA, Feliubadaló L, Estivill X, Nunes V, Golomb E, Kreiss Y, Pras E, Bisceglia L, d'Adamo AP, Zelante L, Gasparini P, Bassi MT, George AL, Manzoni M, Riboni M, Ballabio A, Borsani G, Reig N, Fernández E, Zorzano A, Bertran J, Palacín M. Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria. Hum Mol Genet. 2001 Feb 15; 10(4):305-16. PMID: 11157794.
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    139. Ferrante MI, Giorgio G, Feather SA, Bulfone A, Wright V, Ghiani M, Selicorni A, Gammaro L, Scolari F, Woolf AS, Sylvie O, Bernard L, Malcolm S, Winter R, Ballabio A, Franco B. Identification of the gene for oral-facial-digital type I syndrome. Am J Hum Genet. 2001 Mar; 68(3):569-76. PMID: 11179005; PMCID: PMC1274470.
    140. Bassi MT, Bergen AA, Bitoun P, Charles SJ, Clementi M, Gosselin R, Hurst J, Lewis RA, Lorenz B, Meitinger T, Messiaen L, Ramesar RS, Ballabio A, Schiaffino MV. Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America. Hum Genet. 2001 Jan; 108(1):51-4. PMID: 11214907.
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    143. Gambardella A, Annesi G, De Fusco M, Patrignani A, Aguglia U, Annesi F, Pasqua AA, Spadafora P, Oliveri RL, Valentino P, Zappia M, Ballabio A, Casari G, Quattrone A. A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1. Neurology. 2000 Nov 28; 55(10):1467-71. PMID: 11094099.
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    144. Incerti B, Cortese K, Pizzigoni A, Surace EM, Varani S, Coppola M, Jeffery G, Seeliger M, Jaissle G, Bennett DC, Marigo V, Schiaffino MV, Tacchetti C, Ballabio A. Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1. Hum Mol Genet. 2000 Nov 22; 9(19):2781-8. PMID: 11092754.
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    145. Buchner G, Broccoli V, Bulfone A, Orfanelli U, Gattuso C, Ballabio A, Franco B. MAEG, an EGF-repeat containing gene, is a new marker associated with dermatome specification and morphogenesis of its derivatives. Mech Dev. 2000 Nov; 98(1-2):179-82. PMID: 11044626.
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    147. Bassi MT, Manzoni M, Monti E, Pizzo MT, Ballabio A, Borsani G. Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV. Am J Hum Genet. 2000 Nov; 67(5):1110-20. PMID: 11013137; PMCID: PMC1288553.
    148. Fukami M, Kirsch S, Schiller S, Richter A, Benes V, Franco B, Muroya K, Rao E, Merker S, Niesler B, Ballabio A, Ansorge W, Ogata T, Rappold GA. A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation. Am J Hum Genet. 2000 Sep; 67(3):563-73. PMID: 10903929; PMCID: PMC1287516.
    149. Meroni G, Cairo S, Merla G, Messali S, Brent R, Ballabio A, Reymond A. Mlx, a new Max-like bHLHZip family member: the center stage of a novel transcription factors regulatory pathway? Oncogene. 2000 Jul 6; 19(29):3266-77. PMID: 10918583.
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    150. Monti E, Bassi MT, Papini N, Riboni M, Manzoni M, Venerando B, Croci G, Preti A, Ballabio A, Tettamanti G, Borsani G. Identification and expression of NEU3, a novel human sialidase associated to the plasma membrane. Biochem J. 2000 Jul 1; 349(Pt 1):343-51. PMID: 10861246; PMCID: PMC1221155.
    151. Bulfone A, Menguzzato E, Broccoli V, Marchitiello A, Gattuso C, Mariani M, Consalez GG, Martinez S, Ballabio A, Banfi S. Barhl1, a gene belonging to a new subfamily of mammalian homeobox genes, is expressed in migrating neurons of the CNS. Hum Mol Genet. 2000 May 22; 9(9):1443-52. PMID: 10814725.
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    152. Buchner G, Orfanelli U, Quaderi N, Bassi MT, Andolfi G, Ballabio A, Franco B. Identification of a new EGF-repeat-containing gene from human Xp22: a candidate for developmental disorders. Genomics. 2000 Apr 1; 65(1):16-23. PMID: 10777661.
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    153. Sperandeo MP, Bassi MT, Riboni M, Parenti G, Buoninconti A, Manzoni M, Incerti B, Larocca MR, Di Rocco M, Strisciuglio P, Dianzani I, Parini R, Candito M, Endo F, Ballabio A, Andria G, Sebastio G, Borsani G. Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance. Am J Hum Genet. 2000 Jan; 66(1):92-9. PMID: 10631139; PMCID: PMC1288352.
    154. Reymond A, Volorio S, Merla G, Al-Maghtheh M, Zuffardi O, Bulfone A, Ballabio A, Zollo M. Evidence for interaction between human PRUNE and nm23-H1 NDPKinase. Oncogene. 1999 Dec 2; 18(51):7244-52. PMID: 10602478.
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    155. Bassi MT, Sperandeo MP, Incerti B, Bulfone A, Pepe A, Surace EM, Gattuso C, De Grandi A, Buoninconti A, Riboni M, Manzoni M, Andria G, Ballabio A, Borsani G, Sebastio G. SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter family. Genomics. 1999 Dec 1; 62(2):297-303. PMID: 10610726.
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    156. Monti E, Preti A, Nesti C, Ballabio A, Borsani G. Expression of a novel human sialidase encoded by the NEU2 gene. Glycobiology. 1999 Dec; 9(12):1313-21. PMID: 10561456.
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    157. Buchner G, Bassi MT, Andolfi G, Ballabio A, Franco B. Identification of a novel homolog of the Drosophila staufen protein in the chromosome 8q13-q21.1 region. Genomics. 1999 Nov 15; 62(1):113-8. PMID: 10585778.
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    158. Ahmad W, De Fusco M, Faiyaz ul Haque M, Aridon P, Sarno T, Sohail M, ul Haque S, Ahmad M, Ballabio A, Franco B, Casari G. Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity. Eur J Hum Genet. 1999 Oct-Nov; 7(7):828-32. PMID: 10573017.
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    159. Barbieri AM, Lupo G, Bulfone A, Andreazzoli M, Mariani M, Fougerousse F, Consalez GG, Borsani G, Beckmann JS, Barsacchi G, Ballabio A, Banfi S. A homeobox gene, vax2, controls the patterning of the eye dorsoventral axis. Proc Natl Acad Sci U S A. 1999 Sep 14; 96(19):10729-34. PMID: 10485894; PMCID: PMC17951.
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    161. Schiaffino MV, d'Addio M, Alloni A, Baschirotto C, Valetti C, Cortese K, Puri C, Bassi MT, Colla C, De Luca M, Tacchetti C, Ballabio A. Ocular albinism: evidence for a defect in an intracellular signal transduction system. Nat Genet. 1999 Sep; 23(1):108-12. PMID: 10471510.
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    162. Buchner G, Montini E, Andolfi G, Quaderi N, Cainarca S, Messali S, Bassi MT, Ballabio A, Meroni G, Franco B. MID2, a homologue of the Opitz syndrome gene MID1: similarities in subcellular localization and differences in expression during development. Hum Mol Genet. 1999 Aug; 8(8):1397-407. PMID: 10400986.
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    164. Banfi S, Bassi MT, Andolfi G, Marchitiello A, Zanotta S, Ballabio A, Casari G, Franco B. Identification and characterization of AFG3L2, a novel paraplegin-related gene. Genomics. 1999 Jul 1; 59(1):51-8. PMID: 10395799.
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    165. Prakash SK, Van den Veyver IB, Franco B, Volta M, Ballabio A, Zoghbi HY. Characterization of a novel chromo domain gene in xp22.3 with homology to Drosophila msl-3. Genomics. 1999 Jul 1; 59(1):77-84. PMID: 10395802.
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    166. Bulfone A, Martinez S, Marigo V, Campanella M, Basile A, Quaderi N, Gattuso C, Rubenstein JL, Ballabio A. Expression pattern of the Tbr2 (Eomesodermin) gene during mouse and chick brain development. Mech Dev. 1999 Jun; 84(1-2):133-8. PMID: 10473127.
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    168. Scolari F, Puzzer D, Amoroso A, Caridi G, Ghiggeri GM, Maiorca R, Aridon P, De Fusco M, Ballabio A, Casari G. Identification of a new locus for medullary cystic disease, on chromosome 16p12. Am J Hum Genet. 1999 Jun; 64(6):1655-60. PMID: 10330352; PMCID: PMC1377908.
    169. Montini E, Buchner G, Spalluto C, Andolfi G, Caruso A, den Dunnen JT, Trump D, Rocchi M, Ballabio A, Franco B. Identification of SCML2, a second human gene homologous to the Drosophila sex comb on midleg (Scm): A new gene cluster on Xp22. Genomics. 1999 May 15; 58(1):65-72. PMID: 10331946.
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    170. Auricchio A, Griseri P, Carpentieri ML, Betsos N, Staiano A, Tozzi A, Priolo M, Thompson H, Bocciardi R, Romeo G, Ballabio A, Ceccherini I. Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease. Am J Hum Genet. 1999 Apr; 64(4):1216-21. PMID: 10090908; PMCID: PMC1377847.
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    172. Guerrini R, Bonanni P, Nardocci N, Parmeggiani L, Piccirilli M, De Fusco M, Aridon P, Ballabio A, Carrozzo R, Casari G. Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2. Ann Neurol. 1999 Mar; 45(3):344-52. PMID: 10072049.
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    173. Borsani G, Bassi MT, Sperandeo MP, De Grandi A, Buoninconti A, Riboni M, Manzoni M, Incerti B, Pepe A, Andria G, Ballabio A, Sebastio G. SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. Nat Genet. 1999 Mar; 21(3):297-301. PMID: 10080183.
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    174. Lavorgna G, Guffanti A, Borsani G, Ballabio A, Boncinelli E. TargetFinder: searching annotated sequence databases for target genes of transcription factors. Bioinformatics. 1999 Feb; 15(2):172-3. PMID: 10089203.
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    175. Fogli A, Guerrini R, Moro F, Fernandez-Alvarez E, Livet MO, Renieri A, Cioni M, Pilz DT, Veggiotti P, Rossi E, Ballabio A, Carrozzo R. Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly. Ann Neurol. 1999 Feb; 45(2):154-61. PMID: 9989616.
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    176. Piccini M, Casari G, Zhou J, Bruttini M, Volti SL, Ballabio A, Renieri A. Evidence for genetic heterogeneity in benign familial hematuria. Am J Nephrol. 1999; 19(4):464-7. PMID: 10460935.
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    177. Borsani G, DeGrandi A, Ballabio A, Bulfone A, Bernard L, Banfi S, Gattuso C, Mariani M, Dixon M, Donnai D, Metcalfe K, Winter R, Robertson M, Axton R, Brown A, van Heyningen V, Hanson I. EYA4, a novel vertebrate gene related to Drosophila eyes absent. Hum Mol Genet. 1999 Jan; 8(1):11-23. PMID: 9887327.
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    178. Volta M, Bulfone A, Gattuso C, Rossi E, Mariani M, Consalez GG, Zuffardi O, Ballabio A, Banfi S, Franco B. Identification and characterization of CDS2, a mammalian homolog of the Drosophila CDP-diacylglycerol synthase gene. Genomics. 1999 Jan 1; 55(1):68-77. PMID: 9889000.
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    179. Segal Y, Peissel B, Renieri A, de Marchi M, Ballabio A, Pei Y, Zhou J. LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis. Am J Hum Genet. 1999 Jan; 64(1):62-9. PMID: 9915944; PMCID: PMC1377703.
    180. Bulfone A, Gattuso C, Marchitiello A, Pardini C, Boncinelli E, Borsani G, Banfi S, Ballabio A. The embryonic expression pattern of 40 murine cDNAs homologous to Drosophila mutant genes (Dres): a comparative and topographic approach to predict gene function. Hum Mol Genet. 1998 Dec; 7(13):1997-2006. PMID: 9817915.
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    181. Gaudenz K, Roessler E, Quaderi N, Franco B, Feldman G, Gasser DL, Wittwer B, Horst J, Montini E, Opitz JM, Ballabio A, Muenke M. Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain. Am J Hum Genet. 1998 Sep; 63(3):703-10. PMID: 9718340; PMCID: PMC1377398.
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    183. de Conciliis L, Marchitiello A, Wapenaar MC, Borsani G, Giglio S, Mariani M, Consalez GG, Zuffardi O, Franco B, Ballabio A, Banfi S. Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains. Genomics. 1998 Jul 15; 51(2):243-50. PMID: 9722947.
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    184. Cox TC, Cox LL, Ballabio A. A very high density microsatellite map (1 STR/41 kb) of 1.7 Mb on Xp22 spanning the microphthalmia with linear skin defects (MLS) syndrome critical region. Eur J Hum Genet. 1998 Jul-Aug; 6(4):406-12. PMID: 9781050.
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    185. De Michele G, De Fusco M, Cavalcanti F, Filla A, Marconi R, Volpe G, Monticelli A, Ballabio A, Casari G, Cocozza S. A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. Am J Hum Genet. 1998 Jul; 63(1):135-9. PMID: 9634528; PMCID: PMC1377251.
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    187. Casari G, De Fusco M, Ciarmatori S, Zeviani M, Mora M, Fernandez P, De Michele G, Filla A, Cocozza S, Marconi R, Dürr A, Fontaine B, Ballabio A. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell. 1998 Jun 12; 93(6):973-83. PMID: 9635427.
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    191. Bione S, Sala C, Manzini C, Arrigo G, Zuffardi O, Banfi S, Borsani G, Jonveaux P, Philippe C, Zuccotti M, Ballabio A, Toniolo D. A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. Am J Hum Genet. 1998 Mar; 62(3):533-41. PMID: 9497258; PMCID: PMC1376955.
    192. Daniele A, Parenti G, d'Addio M, Andria G, Ballabio A, Meroni G. Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata. Am J Hum Genet. 1998 Mar; 62(3):562-72. PMID: 9497243; PMCID: PMC1376941.
    193. Dal Zotto L, Quaderi NA, Elliott R, Lingerfelter PA, Carrel L, Valsecchi V, Montini E, Yen CH, Chapman V, Kalcheva I, Arrigo G, Zuffardi O, Thomas S, Willard HF, Ballabio A, Disteche CM, Rugarli EI. The mouse Mid1 gene: implications for the pathogenesis of Opitz syndrome and the evolution of the mammalian pseudoautosomal region. Hum Mol Genet. 1998 Mar; 7(3):489-99. PMID: 9467009.
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    194. Piccini M, Vitelli F, Bruttini M, Pober BR, Jonsson JJ, Villanova M, Zollo M, Borsani G, Ballabio A, Renieri A. FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation. Genomics. 1998 Feb 1; 47(3):350-8. PMID: 9480748.
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    195. Rocchigiani M, Lestingi M, Luddi A, Orlandini M, Franco B, Rossi E, Ballabio A, Zuffardi O, Oliviero S. Human FIGF: cloning, gene structure, and mapping to chromosome Xp22.1 between the PIGA and the GRPR genes. Genomics. 1998 Jan 15; 47(2):207-16. PMID: 9479493.
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    196. Borsani G, Ballabio A, Banfi S. A practical guide to orient yourself in the labyrinth of genome databases. Hum Mol Genet. 1998; 7(10):1641-8. PMID: 9735386.
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    197. Volorio S, Simon G, Repetto M, Cucciardi M, Banfi S, Borsani G, Ballabio A, Zollo M. Sequencing analysis of forty-eight human image cDNA clones similar to Drosophila mutant protein. DNA Seq. 1998; 9(5-6):307-15. PMID: 10524757.
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    198. Parenti G, Buttitta P, Meroni G, Franco B, Bernard L, Rizzolo MG, Brunetti-Pierri N, Ballabio A, Andria G. X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene. Am J Med Genet. 1997 Dec 12; 73(2):139-43. PMID: 9409863.
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    199. van de Vosse E, Franco B, van der Bent P, Montini E, Orth U, Hanauer A, Tijmes N, van Ommen GJ, Ballabio A, den Dunnen JT, Bergen AA. Exclusion of PPEF as the gene causing X-linked juvenile retinoschisis. Hum Genet. 1997 Dec; 101(2):235-7. PMID: 9402977.
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    200. Valsecchi C, Ghezzi C, Ballabio A, Rugarli EI. JAGGED2: a putative Notch ligand expressed in the apical ectodermal ridge and in sites of epithelial-mesenchymal interactions. Mech Dev. 1997 Dec; 69(1-2):203-7. PMID: 9486542.
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    201. Quaderi NA, Schweiger S, Gaudenz K, Franco B, Rugarli EI, Berger W, Feldman GJ, Volta M, Andolfi G, Gilgenkrantz S, Marion RW, Hennekam RC, Opitz JM, Muenke M, Ropers HH, Ballabio A. Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. Nat Genet. 1997 Nov; 17(3):285-91. PMID: 9354791.
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    202. Adler DA, Rugarli EI, Lingenfelter PA, Tsuchiya K, Poslinski D, Liggitt HD, Chapman VM, Elliott RW, Ballabio A, Disteche CM. Evidence of evolutionary up-regulation of the single active X chromosome in mammals based on Clc4 expression levels in Mus spretus and Mus musculus. Proc Natl Acad Sci U S A. 1997 Aug 19; 94(17):9244-8. PMID: 9256467; PMCID: PMC23138.
    203. Ferrero GB, Gebbia M, Pilia G, Witte D, Peier A, Hopkin RJ, Craigen WJ, Shaffer LG, Schlessinger D, Ballabio A, Casey B. A submicroscopic deletion in Xq26 associated with familial situs ambiguus. Am J Hum Genet. 1997 Aug; 61(2):395-401. PMID: 9311745; PMCID: PMC1715914.
    204. Montini E, Rugarli EI, Van de Vosse E, Andolfi G, Mariani M, Puca AA, Consalez GG, den Dunnen JT, Ballabio A, Franco B. A novel human serine-threonine phosphatase related to the Drosophila retinal degeneration C (rdgC) gene is selectively expressed in sensory neurons of neural crest origin. Hum Mol Genet. 1997 Jul; 6(7):1137-45. PMID: 9215685.
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    205. Rubboli F, Bulfone A, Bogni S, Marchitiello A, Zollo M, Borsani G, Ballabio A, Banfi S. A mammalian homologue of the Drosophila retinal degeneration B gene: implications for the evolution of phototransduction mechanisms. Genes Funct. 1997 Jun; 1(3):205-13. PMID: 9680295.
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    206. Puca AA, Zollo M, Repetto M, Andolfi G, Guffanti A, Simon G, Ballabio A, Franco B. Identification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulfatase gene (ARSF) from the Xp22.3 region. Genomics. 1997 Jun 1; 42(2):192-9. PMID: 9192838.
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    207. Parenti G, Meroni G, Ballabio A. The sulfatase gene family. Curr Opin Genet Dev. 1997 Jun; 7(3):386-91. PMID: 9229115.
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    209. Gläser B, Grützner F, Taylor K, Schiebel K, Meroni G, Tsioupra K, Pasantes J, Rietschel W, Toder R, Willmann U, Zeitler S, Yen P, Ballabio A, Rappold G, Schempp W. Comparative mapping of Xp22 genes in hominoids--evolutionary linear instability of their Y homologues. Chromosome Res. 1997 May; 5(3):167-76. PMID: 9246409.
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    210. De Carlis L, Zurleni F, Ballabio A, Pirotta V, Rondinara G, Sansalone CV, Colella G, Slim AO, Meroni A, Belli L, Forti D. Left thoracic approach for cancer of cardia: early and late results. Int Surg. 1997 Apr-Jun; 82(2):137-40. PMID: 9331840.
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    212. Repetto M, Ballabio A, Zollo M. A method to direct sequence cosmid LAWRIST16 clones. DNA Seq. 1997; 7(3-4):229-33. PMID: 9254019.
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    214. Renieri A, Bruttini M, Piccini M, Bruno M, Cecconi M, Conti M, Coppo R, La Manna A, Trivelli A, De Marchi M, Ballabio A. Molecular diagnosis of Alport syndrome: the experience in Siena. Contrib Nephrol. 1997; 122:132-3. PMID: 9399055.
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    215. Mastroianni N, Bettinelli A, Bianchetti M, Colussi G, De Fusco M, Sereni F, Ballabio A, Casari G. Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome. Am J Hum Genet. 1996 Nov; 59(5):1019-26. PMID: 8900229; PMCID: PMC1914834.
    216. MacKenzie JJ, Fitzpatrick J, Babyn P, Ferrero GB, Ballabio A, Billingsley G, Bulman DE, Strasberg P, Ray PN, Costa T. X linked spondyloepiphyseal dysplasia: a clinical, radiological, and molecular study of a large kindred. J Med Genet. 1996 Oct; 33(10):823-8. PMID: 8933334; PMCID: PMC1050760.
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    218. Bassi MT, Incerti B, Easty DJ, Sviderskaya EV, Ballabio A. Cloning of the murine homolog of the ocular albinism type 1 (OA1) gene: sequence, genomic structure, and expression analysis in pigment cells. Genome Res. 1996 Sep; 6(9):880-5. PMID: 8889556.
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    219. Mills KA, Mathews KD, Scherpbier-Heddema T, Buetow KH, Baldini A, Ballabio A, Borsani G. Genetic and physical mapping of a voltage-dependent chloride channel gene to human 4q32 and to mouse 8. Genomics. 1996 Sep 1; 36(2):374-6. PMID: 8812471.
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    222. Mastroianni N, De Fusco M, Zollo M, Arrigo G, Zuffardi O, Bettinelli A, Ballabio A, Casari G. Molecular cloning, expression pattern, and chromosomal localization of the human Na-Cl thiazide-sensitive cotransporter (SLC12A3). Genomics. 1996 Aug 1; 35(3):486-93. PMID: 8812482.
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    224. Renieri A, Bruttini M, Galli L, Zanelli P, Neri T, Rossetti S, Turco A, Heiskari N, Zhou J, Gusmano R, Massella L, Banfi G, Scolari F, Sessa A, Rizzoni G, Tryggvason K, Pignatti PF, Savi M, Ballabio A, De Marchi M. X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene. Am J Hum Genet. 1996 Jun; 58(6):1192-204. PMID: 8651296; PMCID: PMC1915065.
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    226. Schaefer L, Ballabio A, Zoghbi HY. Cloning and characterization of a putative human holocytochrome c-type synthetase gene (HCCS) isolated from the critical region for microphthalmia with linear skin defects (MLS). Genomics. 1996 Jun 1; 34(2):166-72. PMID: 8661044.
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    227. Meroni G, Franco B, Archidiacono N, Messali S, Andolfi G, Rocchi M, Ballabio A. Characterization of a cluster of sulfatase genes on Xp22.3 suggests gene duplications in an ancestral pseudoautosomal region. Hum Mol Genet. 1996 Apr; 5(4):423-31. PMID: 8845834.
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    228. Auricchio A, Brancolini V, Casari G, Milla PJ, Smith VV, Devoto M, Ballabio A. The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28. Am J Hum Genet. 1996 Apr; 58(4):743-8. PMID: 8644737; PMCID: PMC1914695.
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    233. Ballabio A. MLS, Aicardi and Goltz syndromes: how many genes involved? Am J Med Genet. 1995 Oct 23; 59(1):100. PMID: 8848999.
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    236. Rugarli EI, Ballabio A. Reelin: a novel extracellular matrix protein involved in brain lamination. Bioessays. 1995 Oct; 17(10):832-4. PMID: 7487964.
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    238. Parenti G, Rizzolo MG, Ghezzi M, Di Maio S, Sperandeo MP, Incerti B, Franco B, Ballabio A, Andria G. Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene. Am J Med Genet. 1995 Jul 3; 57(3):476-8. PMID: 7677154.
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    240. Bassi MT, Schiaffino MV, Renieri A, De Nigris F, Galli L, Bruttini M, Gebbia M, Bergen AA, Lewis RA, Ballabio A. Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. Nat Genet. 1995 May; 10(1):13-9. PMID: 7647783.
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    245. Sansalone CV, De Carlis L, Rondinara GF, Colella G, Rossetti O, Slim AO, Aseri P, Pirotta V, Meroni A, Ballabio A, et al. Right hepatic artery replacement from superior mesenteric artery in combined liver-whole pancreas procurement. Technical problems and liver graft artery reconstruction. Transplant Proc. 1994 Dec; 26(6):3537-9. PMID: 7998266.
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    252. Renieri A, Bassi MT, Galli L, Zhou J, Giani M, De Marchi M, Ballabio A. Deletion spanning the 5' ends of both the COL4A5 and COL4A6 genes in a patient with Alport's syndrome and leiomyomatosis. Hum Mutat. 1994; 4(3):195-8. PMID: 7833948.
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    272. Bick D, Franco B, Sherins RJ, Heye B, Pike L, Crawford J, Maddalena A, Incerti B, Pragliola A, Meitinger T, Ballabio A. Brief report: intragenic deletion of the KALIG-1 gene in Kallmann's syndrome. N Engl J Med. 1992 Jun 25; 326(26):1752-5. PMID: 1594017.
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    273. Ballabio A, Camerino G. The gene for X-linked Kallmann syndrome: a human neuronal migration defect. Curr Opin Genet Dev. 1992 Jun; 2(3):417-21. PMID: 1504616.
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    274. Ballabio A, Willard HF. Mammalian X-chromosome inactivation and the XIST gene. Curr Opin Genet Dev. 1992 Jun; 2(3):439-47. PMID: 1504619.
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    275. Wapenaar MC, Petit C, Basler E, Ballabio A, Henke A, Rappold GA, van Paassen HM, Blonden LA, van Ommen GJ. Physical mapping of 14 new DNA markers isolated from the human distal Xp region. Genomics. 1992 May; 13(1):167-75. PMID: 1349572.
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    276. Grompe M, Pieretti M, Caskey CT, Ballabio A. The sulfatase gene family: cross-species PCR cloning using the MOPAC technique. Genomics. 1992 Apr; 12(4):755-60. PMID: 1572648.
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    277. Basler E, Grompe M, Parenti G, Yates J, Ballabio A. Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis. Am J Hum Genet. 1992 Mar; 50(3):483-91. PMID: 1539590; PMCID: PMC1684279.
    278. Carrozzo R, Ellison J, Yen P, Taillon-Miller P, Brownstein BH, Persico G, Ballabio A, Shapiro L. Isolation and characterization of a yeast artificial chromosome (YAC) contig around the human steroid sulfatase gene. Genomics. 1992 Jan; 12(1):7-12. PMID: 1733866.
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    279. Palmieri G, Capra V, Romano G, D'Urso M, Johnson S, Schlessinger D, Morris P, Hopwood J, Di Natale P, Gatti R, Ballabio A. The iduronate sulfatase gene: isolation of a 1.2-Mb YAC contig spanning the entire gene and identification of heterogeneous deletions in patients with Hunter syndrome. Genomics. 1992 Jan; 12(1):52-7. PMID: 1733863.
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    280. Giudicelli R, Sainty JM, Barthélémy A, Dumon JF, Dupin B, Lapicque JC, Fuentes P, Bordigoni L, Ballabio A. [Non-malignant esophagotracheal fistulas in adults. Experience with 35 cases]. Ann Chir. 1992; 46(8):738-41. PMID: 1285614.
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    281. Ballabio A, Zollo M, Carrozzo R, Caiulo A, Zuffardi O, Cascioli CF, Viggiano D, Strisciuglio P. Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency. Am J Med Genet. 1991 Nov 1; 41(2):184-7. PMID: 1785631.
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    282. Franco B, Guioli S, Pragliola A, Incerti B, Bardoni B, Tonlorenzi R, Carrozzo R, Maestrini E, Pieretti M, Taillon-Miller P, Brown CJ, Willard HF, Lawrence C, Graziella Persico M, Camerino G, Ballabio A. A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature. 1991 Oct 10; 353(6344):529-36. PMID: 1922361.
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    283. Bardoni B, Zuffardi O, Guioli S, Ballabio A, Simi P, Cavalli P, Grimoldi MG, Fraccaro M, Camerino G. A deletion map of the human Yq11 region: implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis. Genomics. 1991 Oct; 11(2):443-51. PMID: 1769656.
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    284. Nelson DL, Ballabio A, Victoria MF, Pieretti M, Bies RD, Gibbs RA, Maley JA, Chinault AC, Webster TD, Caskey CT. Alu-primed polymerase chain reaction for regional assignment of 110 yeast artificial chromosome clones from the human X chromosome: identification of clones associated with a disease locus. Proc Natl Acad Sci U S A. 1991 Jul 15; 88(14):6157-61. PMID: 2068096; PMCID: PMC52041.
    285. Ballabio A. Contiguous deletion syndromes. Curr Opin Genet Dev. 1991 Jun; 1(1):25-9. PMID: 1840874.
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    286. Pieretti M, Tonlorenzi R, Ballabio A. Rapid assembly of lambda phage contigs within YAC clones. Nucleic Acids Res. 1991 May 25; 19(10):2795-6. PMID: 1828295; PMCID: PMC328218.
    287. Borsani G, Tonlorenzi R, Simmler MC, Dandolo L, Arnaud D, Capra V, Grompe M, Pizzuti A, Muzny D, Lawrence C, Willard HF, Avner P, Ballabio A. Characterization of a murine gene expressed from the inactive X chromosome. Nature. 1991 May 23; 351(6324):325-9. PMID: 2034278.
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    288. Dominioni L, Dionigi R, Zanello M, Chiaranda M, Dionigi R, Acquarolo A, Ballabio A, Sguotti C. Effects of high-dose IgG on survival of surgical patients with sepsis scores of 20 or greater. Arch Surg. 1991 Feb; 126(2):236-40. PMID: 1992998.
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    289. Brown CJ, Ballabio A, Rupert JL, Lafreniere RG, Grompe M, Tonlorenzi R, Willard HF. A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome. Nature. 1991 Jan 3; 349(6304):38-44. PMID: 1985261.
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    290. Brown CJ, Lafreniere RG, Powers VE, Sebastio G, Ballabio A, Pettigrew AL, Ledbetter DH, Levy E, Craig IW, Willard HF. Localization of the X inactivation centre on the human X chromosome in Xq13. Nature. 1991 Jan 3; 349(6304):82-4. PMID: 1985270.
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    291. Bick D, Ballabio A. Chromosome abnormalities in and pathogenesis of Kallmann syndrome. Am J Med Genet. 1990 Oct; 37(2):298. PMID: 2082963.
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    292. Ballabio A, Bardoni B, Guioli S, Basler E, Camerino G. Two families of low-copy-number repeats are interspersed on Xp22.3: implications for the high frequency of deletions in this region. Genomics. 1990 Oct; 8(2):263-70. PMID: 2249849.
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    293. Meitinger T, Heye B, Petit C, Levilliers J, Golla A, Moraine C, Dalla Piccola B, Sippell WG, Murken J, Ballabio A. Definitive localization of X-linked Kallman syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232. Am J Hum Genet. 1990 Oct; 47(4):664-9. PMID: 1977309; PMCID: PMC1683776.
    294. Ballabio A, Ranier JE, Chamberlain JS, Zollo M, Caskey CT. Screening for steroid sulfatase (STS) gene deletions by multiplex DNA amplification. Hum Genet. 1990 May; 84(6):571-3. PMID: 2338343.
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    295. Ross MT, Ballabio A, Craig IW. Long-range physical mapping around the human steroid sulfatase locus. Genomics. 1990 Mar; 6(3):528-39. PMID: 2328992.
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    296. Ballabio A, Gibbs RA, Caskey CT. PCR test for cystic fibrosis deletion. Nature. 1990 Jan 18; 343(6255):220. PMID: 2300168.
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    297. Ballabio A, Bardoni B, Carrozzo R, Andria G, Bick D, Campbell L, Hamel B, Ferguson-Smith MA, Gimelli G, Fraccaro M, et al. Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. Proc Natl Acad Sci U S A. 1989 Dec; 86(24):10001-5. PMID: 2602357; PMCID: PMC298630.
    298. Negri G, Zannini P, Roviaro GC, Voci C, Baisi A, Ballabio A. [The role of esophageal manometry in the surgical treatment of epiphrenic diverticula]. Minerva Med. 1989 Jul; 80(7):789-91. PMID: 2506492.
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    299. Ballabio A, Carrozzo R, Parenti G, Gil A, Zollo M, Persico MG, Gillard E, Affara N, Yates J, Ferguson-Smith MA, et al. Molecular heterogeneity of steroid sulfatase deficiency: a multicenter study on 57 unrelated patients, at DNA and protein levels. Genomics. 1989 Jan; 4(1):36-40. PMID: 2644167.
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    300. Ballabio A, Carrozzo R, Gil A, Gillard B, Affara N, Ferguson-Smith MA, Fraser N, Craig I, Rocchi M, Romeo G, et al. Molecular characterization of human X/Y translocations suggests their aetiology through aberrant exchange between homologous sequences on Xp and Yq. Ann Hum Genet. 1989 Jan; 53(Pt 1):9-14. PMID: 2729897.
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    301. Piccirillo A, Auricchio L, Fabbrocini G, Parenti G, Ballabio A, Delfino M. Ocular findings and skin histology in a group of patients with X-linked ichthyosis. Br J Dermatol. 1988 Aug; 119(2):185-8. PMID: 3166940.
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    302. Ballabio A, Parenti G, Carrozzo R, Coppa G, Felici L, Migliori V, Silengo M, Franceschini P, Andria G. X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene. Clin Genet. 1988 Jul; 34(1):31-7. PMID: 3165728.
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    303. Andria G, Ballabio A, Parenti G. More on X-linked ichthyosis, steroid sulfatase deficiency, and hypogonadism and anosmia. Ann Neurol. 1988 Jan; 23(1):103. PMID: 3422798.
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    304. Ballabio A, Sebastio G, Carrozzo R, Parenti G, Piccirillo A, Persico MG, Andria G. Deletions of the steroid sulphatase gene in "classical" X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndrome. Hum Genet. 1987 Dec; 77(4):338-41. PMID: 3480263.
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    305. Ballabio A, Parenti G, Carrozzo R, Sebastio G, Andria G, Buckle V, Fraser N, Craig I, Rocchi M, Romeo G, et al. Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis. Proc Natl Acad Sci U S A. 1987 Jul; 84(13):4519-23. PMID: 3474618; PMCID: PMC305121.
    306. Andria G, Ballabio A, Parenti G. X-linked ichthyosis due to steroid sulfatase deficiency associated with hypogonadism and anosmia. Ann Neurol. 1987 Jul; 22(1):98-9. PMID: 3477126.
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    307. Dominioni L, Dionigi R, Zanello M, Monico R, Cremaschi R, Dionigi R, Ballabio A, Massa M, Comelli M, Dal Ri P, et al. Sepsis score and acute-phase protein response as predictors of outcome in septic surgical patients. Arch Surg. 1987 Feb; 122(2):141-6. PMID: 3492985.
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    308. Parenti G, Ballabio A, Hoogeveen AT, Van der Loos CM, Jobsis AC, Andria G. Studies on cross-reacting material to steroid sulphatase in fibroblasts from patients affected by different types of steroid sulphatase deficiency. J Inherit Metab Dis. 1987; 10(3):224-8. PMID: 3123779.
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    309. Fraser N, Ballabio A, Zollo M, Persico G, Craig I. Identification of incomplete coding sequences for steroid sulphatase on the human Y chromosome: evidence for an ancestral pseudoautosomal gene? Development. 1987; 101 Suppl:127-32. PMID: 3503710.
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    310. Sebastio G, Hunziker W, Ballabio A, Auricchio S, Semenza G. On the primary site of control in the spontaneous development of small-intestinal sucrase-isomaltase after birth. FEBS Lett. 1986 Nov 24; 208(2):460-4. PMID: 3780983.
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    311. Strisciuglio P, Ballabio A, Parenti G. Microtia with meatal atresia and conductive deafness: mild and severe manifestations within the same sibship. J Med Genet. 1986 Oct; 23(5):459-60. PMID: 3783624; PMCID: PMC1049785.
    312. Chase DS, Morris AH, Ballabio A, Pepper S, Giannelli F, Adinolfi M. Genetics of Hunter syndrome: carrier detection, new mutations, segregation and linkage analysis. Ann Hum Genet. 1986 Oct; 50(Pt 4):349-60. PMID: 3126700.
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    313. Ballabio A, Parenti G, Tippett P, Mondello C, Di Maio S, Tenore A, Andria G. X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome. Hum Genet. 1986 Mar; 72(3):237-40. PMID: 3007328.
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    314. Dionigi R, Dominioni L, Jemos V, Cremaschi R, Bobbio-Pallavicini F, Ballabio A. Sepsis score and complement factor B for monitoring severely septic surgical patients and for predicting their survival. Eur Surg Res. 1985; 17(5):269-80. PMID: 3850809.
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    315. Ballabio A, Parenti G, Napolitano E, Di Natale P, Andria G. Genetic complementation of steroid sulphatase after somatic cell hybridization of X-linked ichthyosis and multiple sulphatase deficiency. Hum Genet. 1985; 70(4):315-7. PMID: 3860470.
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    316. Andria G, Ballabio A, Parenti G, DiMaio S, Piccirillo A. Steroid sulphatase deficiency and hypogonadism. Eur J Pediatr. 1984 Sep; 142(4):304-5. PMID: 6489382.
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    317. Ballabio A, Pallini R, Di Natale P. Mucopolysaccharidosis III B: hybridization studies on fibroblasts from a mild case and fibroblasts from severe patients. Clin Genet. 1984 Feb; 25(2):191-5. PMID: 6231143.
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    318. Andria G, Ballabio A, Parenti G, Di Maio S, Piccirillo A. Steroid sulphatase deficiency is present in patients with the syndrome 'ichthyosis and male hypogonadism' and with 'Rud syndrome'. J Inherit Metab Dis. 1984; 7 Suppl 2:159-60. PMID: 6434878.
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    319. Dionigi R. The effects of total parenteral nutrition on immunodepression due to malnutrition. Ann Surg. 1977 Apr; 185(4):467-74. PMID: 402893; PMCID: PMC1396127.
    320. Gualandri V, Ballabio A. [On the relations between acquired cardiac diseases and ABO blood group systems]. Acta Genet Med Gemellol (Roma). 1965 Oct; 14(4):392-405. PMID: 5889296.
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    321. BALLABIO A, GUALANDRI V, PARENTI GF. [CLINICO-STATISTICAL FINDINGS ON ACQUIRED CARDIAC VALVE DISEASES]. Reumatismo. 1965 Jan-Feb; 17:28-34. PMID: 14299216.
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