Below are the most recent publications written about "Eye Abnormalities" by people in Profiles.
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Cappuccio G, Brillante S, Tammaro R, Pinelli M, De Bernardi ML, Gensini MG, Bijlsma EK, Koopmann TT, Hoffer MJV, McDonald K, Hendon LG, Douzgou S, Deshpande C, D'Arrigo S, Torella A, Nigro V, Franco B, Brunetti-Pierri N. Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome. Am J Med Genet C Semin Med Genet. 2022 03; 190(1):102-108.
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Dworschak GC, Punetha J, Kalanithy JC, Mingardo E, Erdem HB, Akdemir ZC, Karaca E, Mitani T, Marafi D, Fatih JM, Jhangiani SN, Hunter JV, Dakal TC, Dhabhai B, Dabbagh O, Alsaif HS, Alkuraya FS, Maroofian R, Houlden H, Efthymiou S, Dominik N, Salpietro V, Sultan T, Haider S, Bibi F, Thiele H, Hoefele J, Riedhammer KM, Wagner M, Guella I, Demos M, Keren B, Buratti J, Charles P, Nava C, Héron D, Heide S, Valkanas E, Waddell LB, Jones KJ, Oates EC, Cooper ST, MacArthur D, Syrbe S, Ziegler A, Platzer K, Okur V, Chung WK, O'Shea SA, Alcalay R, Fahn S, Mark PR, Guerrini R, Vetro A, Hudson B, Schnur RE, Hoganson GE, Burton JE, McEntagart M, Lindenberg T, Yilmaz Ö, Odermatt B, Pehlivan D, Posey JE, Lupski JR, Reutter H. Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies. Genet Med. 2021 09; 23(9):1715-1725.
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O'Bryant SC, Little-Wienert K. Teenager with a Unilateral Cloudy Eye. J Pediatr. 2021 06; 233:280.
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Escarza BS, Cruz-Beltran S, Lessans G, Austin TM, Lam HV. Are pediatric patients with PHACE association at high risk for anesthetic complications? Paediatr Anaesth. 2021 02; 31(2):239-241.
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Modaboyina S, Das D, Bajaj MS, Shanmugam C. Bilateral ankyloblepharon filiforme adnatum: a video documentation. BMJ Case Rep. 2020 Sep 02; 13(9).
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Medina-Martinez O, Haller M, Rosenfeld JA, O'Neill MA, Lamb DJ, Jamrich M. The transcription factor Maz is essential for normal eye development. Dis Model Mech. 2020 08 18; 13(8).
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Bachmann-Gagescu R, Dempsey JC, Bulgheroni S, Chen ML, D'Arrigo S, Glass IA, Heller T, Héon E, Hildebrandt F, Joshi N, Knutzen D, Kroes HY, Mack SH, Nuovo S, Parisi MA, Snow J, Summers AC, Symons JM, Zein WM, Boltshauser E, Sayer JA, Gunay-Aygun M, Valente EM, Doherty D. Healthcare recommendations for Joubert syndrome. Am J Med Genet A. 2020 01; 182(1):229-249.
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Lupo PJ, Mitchell LE, Jenkins MM. Genome-wide association studies of structural birth defects: A review and commentary. Birth Defects Res. 2019 11 01; 111(18):1329-1342.
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Stefanko NS, Davies OMT, Beato MJ, Blei F, Drolet BA, Fairley J, Frieden IJ, Galligan ER, Goddard D, Howard R, Husain S, Lauren CT, Lopez-Gutierrez JC, MacArthur C, Metry DW, Morel KD, Niedt GW, Garzon MC, Sokumbi O, Siegel DH. Hamartomas and midline anomalies in association with infantile hemangiomas, PHACE, and LUMBAR syndromes. Pediatr Dermatol. 2020 Jan; 37(1):78-85.
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Stefanko NS, Cossio ML, Powell J, Blei F, Davies OMT, Frieden IJ, Garzon MC, Lauren CT, Maheshwari M, McCuaig CC, Metry D, Salman S, Drolet BA, Siegel DH. Natural history of PHACE syndrome: A survey of adults with PHACE. Pediatr Dermatol. 2019 Sep; 36(5):618-622.