Connection

CARLOS BACINO to Female

This is a "connection" page, showing publications CARLOS BACINO has written about Female.
Connection Strength

0.786
  1. Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity. Nat Commun. 2020 05 15; 11(1):2441.
    View in: PubMed
    Score: 0.028
  2. 5q14.3 deletion neurocutaneous syndrome: Contiguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C: A progressive disease. Am J Med Genet A. 2016 Mar; 170(3):688-93.
    View in: PubMed
    Score: 0.020
  3. WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype. Am J Med Genet A. 2012 Nov; 158A(11):2917-24.
    View in: PubMed
    Score: 0.016
  4. De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndrome. Am J Med Genet A. 2012 Oct; 158A(10):2557-63.
    View in: PubMed
    Score: 0.016
  5. WDR62 missense mutation in a consanguineous family with primary microcephaly. Am J Med Genet A. 2012 Mar; 158A(3):622-5.
    View in: PubMed
    Score: 0.016
  6. Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid. Am J Med Genet A. 2010 Aug; 152A(8):1994-2001.
    View in: PubMed
    Score: 0.014
  7. Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region. Am J Med Genet A. 2010 Jul; 152A(7):1825-31.
    View in: PubMed
    Score: 0.014
  8. Molecular characterization of a balanced rearrangement of chromosome 12 in two siblings with Noonan syndrome. Am J Med Genet A. 2009 Dec; 149A(12):2723-30.
    View in: PubMed
    Score: 0.013
  9. Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients. Am J Med Genet A. 2009 Sep; 149A(9):1916-21.
    View in: PubMed
    Score: 0.013
  10. Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation. Am J Med Genet A. 2008 Nov 01; 146A(21):2804-9.
    View in: PubMed
    Score: 0.012
  11. Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome. Clin Genet. 2007 Oct; 72(4):329-38.
    View in: PubMed
    Score: 0.012
  12. Array-based comparative genomic hybridization facilitates identification of breakpoints of a novel der(1)t(1;18)(p36.3;q23)dn in a child presenting with mental retardation. Am J Med Genet A. 2006 Jun 01; 140(11):1156-63.
    View in: PubMed
    Score: 0.010
  13. Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations. J Med Genet. 2006 Jun; 43(6):512-6.
    View in: PubMed
    Score: 0.010
  14. Genetic and environmental factors influencing fasting serum adiponectin in Hispanic children. J Clin Endocrinol Metab. 2005 Jul; 90(7):4170-6.
    View in: PubMed
    Score: 0.010
  15. Autism in Angelman syndrome: implications for autism research. Clin Genet. 2004 Dec; 66(6):530-6.
    View in: PubMed
    Score: 0.009
  16. Re: Familial cryptic translocation (2;17) ascertained through recurrent spontaneous abortions: Bruyere H, Rajcan-Separovic E, Doyle J, Pantzar T, Langlois S. Am J Med Genet A. 2004 Nov 01; 130A(4):439-40.
    View in: PubMed
    Score: 0.009
  17. Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene. N Engl J Med. 2024 Oct 24; 391(16):1511-1518.
    View in: PubMed
    Score: 0.009
  18. Persistent growth-promoting effects of vosoritide in children with achondroplasia are accompanied by improvements in physical and social aspects of health-related quality of life. Genet Med. 2024 Dec; 26(12):101274.
    View in: PubMed
    Score: 0.009
  19. MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability. Am J Med Genet A. 2025 Jan; 197(1):e63868.
    View in: PubMed
    Score: 0.009
  20. Recurrent carotid paragangliomas in a syndromic patient with a heterozygous missense variant in DNA Methyltransferase 3 Alpha. Am J Med Genet A. 2025 Jan; 197(1):e63849.
    View in: PubMed
    Score: 0.009
  21. Cognitive and adaptive behavior profiles of children with Angelman syndrome. Am J Med Genet A. 2004 Jul 15; 128A(2):110-3.
    View in: PubMed
    Score: 0.009
  22. Developmental milestones and daily living skills in individuals with Angelman syndrome. J Neurodev Disord. 2024 Jun 15; 16(1):32.
    View in: PubMed
    Score: 0.009
  23. Development of a Weight-Band Dosing Approach for Vosoritide in Children with Achondroplasia Using a Population Pharmacokinetic Model. Clin Pharmacokinet. 2024 May; 63(5):707-719.
    View in: PubMed
    Score: 0.009
  24. The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing. Am J Hum Genet. 2024 05 02; 111(5):841-862.
    View in: PubMed
    Score: 0.009
  25. Improving access to exome sequencing in a medically underserved population through the Texome Project. Genet Med. 2024 06; 26(6):101102.
    View in: PubMed
    Score: 0.009
  26. Vosoritide therapy in children with achondroplasia aged 3-59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trial. Lancet Child Adolesc Health. 2024 01; 8(1):40-50.
    View in: PubMed
    Score: 0.009
  27. TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system. Proc Natl Acad Sci U S A. 2023 Jan 24; 120(4):e2209964120.
    View in: PubMed
    Score: 0.008
  28. Growth parameters in children with achondroplasia: A?7-year, prospective, multinational, observational study. Genet Med. 2022 12; 24(12):2444-2452.
    View in: PubMed
    Score: 0.008
  29. A novel, de novo intronic variant in POGZ causes White-Sutton syndrome. Am J Med Genet A. 2022 07; 188(7):2198-2203.
    View in: PubMed
    Score: 0.008
  30. Evidence of feedback regulation of C-type natriuretic peptide during Vosoritide therapy in Achondroplasia. Sci Rep. 2021 12 20; 11(1):24278.
    View in: PubMed
    Score: 0.008
  31. Atypical presentation of amniotic band sequence. Am J Med Genet. 2001 Apr 22; 100(2):100-2.
    View in: PubMed
    Score: 0.007
  32. Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing. J Clin Invest. 2021 01 04; 131(1).
    View in: PubMed
    Score: 0.007
  33. Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndrome. Am J Med Genet. 2000 Sep 11; 94(2):102-12.
    View in: PubMed
    Score: 0.007
  34. Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial. Lancet. 2020 09 05; 396(10252):684-692.
    View in: PubMed
    Score: 0.007
  35. Sudden infant death with dysgenesis of the testes syndrome in a non-Amish infant: A case report. Am J Med Genet A. 2020 11; 182(11):2751-2754.
    View in: PubMed
    Score: 0.007
  36. Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes. Am J Med Genet. 2000 Jun 05; 92(4):250-5.
    View in: PubMed
    Score: 0.007
  37. Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings. Genomics. 2020 09; 112(5):2937-2941.
    View in: PubMed
    Score: 0.007
  38. De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy. Am J Hum Genet. 2020 05 07; 106(5):717-725.
    View in: PubMed
    Score: 0.007
  39. Agenesis of the corpus callosum and hepatoblastoma. Am J Med Genet A. 2020 01; 182(1):224-228.
    View in: PubMed
    Score: 0.007
  40. Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. Genet Med. 2020 03; 22(3):524-537.
    View in: PubMed
    Score: 0.007
  41. Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities. Am J Med Genet A. 2019 10; 179(10):2056-2066.
    View in: PubMed
    Score: 0.007
  42. Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect. Mol Genet Genomic Med. 2019 09; 7(9):e844.
    View in: PubMed
    Score: 0.007
  43. C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia. N Engl J Med. 2019 07 04; 381(1):25-35.
    View in: PubMed
    Score: 0.006
  44. Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases. Genome Med. 2019 05 17; 11(1):30.
    View in: PubMed
    Score: 0.006
  45. SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. Hum Mutat. 2019 07; 40(7):908-925.
    View in: PubMed
    Score: 0.006
  46. Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. Am J Hum Genet. 2019 03 07; 104(3):422-438.
    View in: PubMed
    Score: 0.006
  47. Trisomy 16q in a female newborn with a de novo X;16 translocation and hypoplastic left heart. Am J Med Genet. 1999 Jan 15; 82(2):128-31.
    View in: PubMed
    Score: 0.006
  48. ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2019 02 07; 104(2):319-330.
    View in: PubMed
    Score: 0.006
  49. Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum. Genet Med. 2019 07; 21(7):1652-1656.
    View in: PubMed
    Score: 0.006
  50. Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature. Am J Med Genet A. 2019 03; 179(3):475-479.
    View in: PubMed
    Score: 0.006
  51. Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. N Engl J Med. 2018 11 29; 379(22):2131-2139.
    View in: PubMed
    Score: 0.006
  52. Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features. Cold Spring Harb Mol Case Stud. 2018 10; 4(5).
    View in: PubMed
    Score: 0.006
  53. Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomaly. Eur J Med Genet. 2019 Jun; 62(6):103531.
    View in: PubMed
    Score: 0.006
  54. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. Am J Hum Genet. 2017 Nov 02; 101(5):664-685.
    View in: PubMed
    Score: 0.006
  55. Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures". Am J Hum Genet. 2017 Nov 02; 101(5):815-823.
    View in: PubMed
    Score: 0.006
  56. De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. Am J Hum Genet. 2017 Nov 02; 101(5):833-843.
    View in: PubMed
    Score: 0.006
  57. Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. Am J Hum Genet. 2017 Oct 05; 101(4):503-515.
    View in: PubMed
    Score: 0.006
  58. Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. PLoS Genet. 2017 Jul; 13(7):e1006905.
    View in: PubMed
    Score: 0.006
  59. Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. Eur J Hum Genet. 2017 06; 25(6):694-701.
    View in: PubMed
    Score: 0.006
  60. Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26.
    View in: PubMed
    Score: 0.006
  61. An Organismal CNV Mutator Phenotype Restricted to Early Human Development. Cell. 2017 02 23; 168(5):830-842.e7.
    View in: PubMed
    Score: 0.006
  62. De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2017 Feb 02; 100(2):352-363.
    View in: PubMed
    Score: 0.005
  63. Mechanisms for Complex Chromosomal Insertions. PLoS Genet. 2016 Nov; 12(11):e1006446.
    View in: PubMed
    Score: 0.005
  64. De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. Am J Hum Genet. 2016 09 01; 99(3):720-727.
    View in: PubMed
    Score: 0.005
  65. Universal Prenatal Chromosomal Microarray Analysis: Additive Value and Clinical Dilemmas in Fetuses with a Normal Karyotype. Am J Perinatol. 2017 03; 34(4):340-348.
    View in: PubMed
    Score: 0.005
  66. The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families. Genet Med. 2017 01; 19(1):45-52.
    View in: PubMed
    Score: 0.005
  67. Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. Hum Genet. 2016 May; 135(5):569-586.
    View in: PubMed
    Score: 0.005
  68. Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila. Hum Mol Genet. 2016 05 01; 25(9):1846-56.
    View in: PubMed
    Score: 0.005
  69. Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. Am J Hum Genet. 2016 Feb 04; 98(2):347-57.
    View in: PubMed
    Score: 0.005
  70. De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations. Orphanet J Rare Dis. 2015 Jun 14; 10:75.
    View in: PubMed
    Score: 0.005
  71. Clinical and molecular studies in full trisomy 22: further delineation of the phenotype and review of the literature. Am J Med Genet. 1995 May 08; 56(4):359-65.
    View in: PubMed
    Score: 0.005
  72. Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3. Hum Mol Genet. 2015 Jul 15; 24(14):4061-77.
    View in: PubMed
    Score: 0.005
  73. De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum. Hum Genet. 2015 Jan; 134(1):97-109.
    View in: PubMed
    Score: 0.005
  74. Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications. Eur J Hum Genet. 2015 Jul; 23(7):915-21.
    View in: PubMed
    Score: 0.005
  75. Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders. Am J Hum Genet. 2014 Aug 07; 95(2):173-82.
    View in: PubMed
    Score: 0.005
  76. Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia. J Pediatr Gastroenterol Nutr. 2014 Jul; 59(1):17-21.
    View in: PubMed
    Score: 0.005
  77. Isolated fetal macrodactyly: phenotypic and genetic disparities in mosaic overgrowth syndrome. J Ultrasound Med. 2014 Jul; 33(7):1305-7.
    View in: PubMed
    Score: 0.005
  78. Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27. Eur J Hum Genet. 2015 Jan; 23(1):54-60.
    View in: PubMed
    Score: 0.005
  79. Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. PLoS Genet. 2014 Mar; 10(3):e1004258.
    View in: PubMed
    Score: 0.005
  80. Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases. Eur J Hum Genet. 2014 Aug; 22(8):969-78.
    View in: PubMed
    Score: 0.004
  81. Fetal akinesia/hypokinesia sequence: prenatal diagnosis and intra-familial variability. Prenat Diagn. 1993 Nov; 13(11):1011-9.
    View in: PubMed
    Score: 0.004
  82. Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis. Am J Med Genet A. 2013 Dec; 161A(12):2953-63.
    View in: PubMed
    Score: 0.004
  83. TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. Am J Hum Genet. 2013 Aug 08; 93(2):197-210.
    View in: PubMed
    Score: 0.004
  84. Early childhood presentation of Czech dysplasia. Clin Dysmorphol. 2013 Apr; 22(2):76-80.
    View in: PubMed
    Score: 0.004
  85. Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability. Eur J Med Genet. 2013 Feb; 56(2):108-13.
    View in: PubMed
    Score: 0.004
  86. Does short bowel syndrome increase the risk of food allergy and eosinophilic gastrointestinal disease? Observations in Shah-Waardenburg syndrome. J Allergy Clin Immunol. 2013 Jan; 131(1):251-5.
    View in: PubMed
    Score: 0.004
  87. Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis. Hum Mutat. 2013 Jan; 34(1):97-102.
    View in: PubMed
    Score: 0.004
  88. Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities. Eur J Hum Genet. 2013 Feb; 21(2):173-81.
    View in: PubMed
    Score: 0.004
  89. Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome. Am J Med Genet A. 2012 Aug; 158A(8):1891-6.
    View in: PubMed
    Score: 0.004
  90. Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfoot. Am J Med Genet A. 2012 Jul; 158A(7):1620-7.
    View in: PubMed
    Score: 0.004
  91. Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature. Prenat Diagn. 2012 Apr; 32(4):351-61.
    View in: PubMed
    Score: 0.004
  92. Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Hum Mutat. 2012 Jan; 33(1):165-79.
    View in: PubMed
    Score: 0.004
  93. A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome. Am J Med Genet A. 2011 Dec; 155A(12):2956-63.
    View in: PubMed
    Score: 0.004
  94. Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell. 2011 Sep 16; 146(6):889-903.
    View in: PubMed
    Score: 0.004
  95. Alterations in white matter pathways in Angelman syndrome. Dev Med Child Neurol. 2011 Apr; 53(4):361-7.
    View in: PubMed
    Score: 0.004
  96. Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems. Am J Hum Genet. 2010 Dec 10; 87(6):857-65.
    View in: PubMed
    Score: 0.004
  97. Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat. 2010 Dec; 31(12):1326-42.
    View in: PubMed
    Score: 0.004
  98. Haploinsufficiency of the LIM domain containing preferred translocation partner in lipoma (LPP) gene in patients with tetralogy of Fallot and VACTERL association. Am J Med Genet A. 2010 Nov; 152A(11):2919-23.
    View in: PubMed
    Score: 0.004
  99. A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations. J Dev Behav Pediatr. 2010 Sep; 31(7):592-601.
    View in: PubMed
    Score: 0.004
  100. Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? Hum Mutat. 2010 Jul; 31(7):840-50.
    View in: PubMed
    Score: 0.003
  101. Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results. Am J Med Genet A. 2010 May; 152A(5):1111-26.
    View in: PubMed
    Score: 0.003
  102. Diagnosis of primary immunodeficiency: let your eyes do the talking. J Allergy Clin Immunol. 2009 Dec; 124(6):1363-4.e1.
    View in: PubMed
    Score: 0.003
  103. Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia. Am J Med Genet A. 2009 Aug; 149A(8):1661-77.
    View in: PubMed
    Score: 0.003
  104. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. J Med Genet. 2009 Dec; 46(12):825-33.
    View in: PubMed
    Score: 0.003
  105. Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum Mol Genet. 2009 Jun 15; 18(12):2188-203.
    View in: PubMed
    Score: 0.003
  106. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet. 2008 Dec; 40(12):1466-71.
    View in: PubMed
    Score: 0.003
  107. Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. Pediatrics. 2008 Dec; 122(6):1310-8.
    View in: PubMed
    Score: 0.003
  108. Low-level mosaicism of trisomy 14: phenotypic and molecular characterization. Am J Med Genet A. 2008 Jun 01; 146A(11):1395-405.
    View in: PubMed
    Score: 0.003
  109. Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency. J Autism Dev Disord. 2008 Jul; 38(6):1170-7.
    View in: PubMed
    Score: 0.003
  110. Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet. 2007 Oct; 81(4):713-25.
    View in: PubMed
    Score: 0.003
  111. Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet A. 2007 Aug 01; 143A(15):1679-86.
    View in: PubMed
    Score: 0.003
  112. Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations. Eur J Hum Genet. 2007 Sep; 15(9):943-9.
    View in: PubMed
    Score: 0.003
  113. A quantitative trait locus on chromosome 18q for physical activity and dietary intake in Hispanic children. Obesity (Silver Spring). 2006 Sep; 14(9):1596-604.
    View in: PubMed
    Score: 0.003
  114. Linkage analysis of circulating levels of adiponectin in Hispanic children. Int J Obes (Lond). 2007 Mar; 31(3):535-42.
    View in: PubMed
    Score: 0.003
  115. Mutations in two regions of FLNB result in atelosteogenesis I and III. Hum Mutat. 2006 Jul; 27(7):705-10.
    View in: PubMed
    Score: 0.003
  116. Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet. 2006 Feb; 78(2):303-14.
    View in: PubMed
    Score: 0.003
  117. Cerebral folate deficiency with developmental delay, autism, and response to folinic acid. Neurology. 2005 Mar 22; 64(6):1088-90.
    View in: PubMed
    Score: 0.002
  118. SNP genotyping to screen for a common deletion in CHARGE syndrome. BMC Med Genet. 2005 Feb 14; 6:8.
    View in: PubMed
    Score: 0.002
  119. Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet. 2005 Apr; 76(4):572-80.
    View in: PubMed
    Score: 0.002
  120. Preimplantation genetic diagnosis for a known cryptic translocation: follow-up clinical report and implication of segregation products. Am J Med Genet A. 2003 Aug 15; 121A(1):56-9.
    View in: PubMed
    Score: 0.002
  121. Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet. 2003 May; 72(5):1200-12.
    View in: PubMed
    Score: 0.002
  122. EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy. Neurogenetics. 2001 Jul; 3(3):153-7.
    View in: PubMed
    Score: 0.002
  123. Identification of Y chromatin directly in gonadal tissue by fluorescence in situ hybridization (FISH): significance for Ullrich-Turner syndrome screening in the cytogenetics laboratory. Am J Med Genet. 2000 Apr 24; 91(5):377-82.
    View in: PubMed
    Score: 0.002
  124. Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter. Am J Hum Genet. 2000 Apr; 66(4):1461-4.
    View in: PubMed
    Score: 0.002
  125. Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two patients with Seckel syndrome. Am J Med Genet. 1999 Apr 23; 83(5):388-91.
    View in: PubMed
    Score: 0.002
  126. Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: a brief review. Am J Med Genet. 1997 Aug 08; 71(2):189-93.
    View in: PubMed
    Score: 0.001
  127. The Pointer syndrome: a new syndrome with skeletal abnormalities, camptodactyly, facial anomalies, and feeding difficulties. Am J Med Genet. 1997 Jan 20; 68(2):225-30.
    View in: PubMed
    Score: 0.001
  128. Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome. J Pediatr. 1993 Oct; 123(4):598-602.
    View in: PubMed
    Score: 0.001
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