William Dobyns to Eye Abnormalities
This is a "connection" page, showing publications William Dobyns has written about Eye Abnormalities.
Connection Strength
2.619
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An update on oculocerebrocutaneous (Delleman-Oorthuys) syndrome. Am J Med Genet C Semin Med Genet. 2018 12; 178(4):414-422.
Score: 0.673
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Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype. J Med Genet. 2005 Dec; 42(12):913-21.
Score: 0.263
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Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome. Am J Med Genet. 1999 Oct 29; 86(5):459-69.
Score: 0.179
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De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies. Am J Hum Genet. 2019 09 05; 105(3):640-657.
Score: 0.176
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Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome. Am J Med Genet A. 2018 01; 176(1):48-55.
Score: 0.157
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Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects. Am J Hum Genet. 2017 Oct 05; 101(4):552-563.
Score: 0.155
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Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. Am J Hum Genet. 2017 Jul 06; 101(1):23-36.
Score: 0.152
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Classification of the cerebro-oculo-muscular syndrome(s). Commentary to Kimura's paper (pp. 182-91) Brain Dev. 1993 May-Jun; 15(3):242-4.
Score: 0.114
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Copy number variation analysis in 98 individuals with PHACE syndrome. J Invest Dermatol. 2013 Mar; 133(3):677-684.
Score: 0.110
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Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet. 1989 Feb; 32(2):195-210.
Score: 0.085
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Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome. Am J Med Genet A. 2005 Feb 15; 133A(1):53-7.
Score: 0.065
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POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. J Med Genet. 2004 Oct; 41(10):e115.
Score: 0.063
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Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. J Med Genet. 2004 May; 41(5):e61.
Score: 0.061
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Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal. Am J Med Genet A. 2004 Mar 15; 125A(3):293-8.
Score: 0.061
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A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype. J Med Genet. 2003 Nov; 40(11):845-8.
Score: 0.059
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Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents. Clin Biochem. 2003 Jul; 36(5):339-44.
Score: 0.058
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Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. Neurology. 2001 Apr 24; 56(8):1059-69.
Score: 0.050
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Autosomal dominant torsion dystonia with onset in infancy. Pediatr Neurol. 1996 Oct; 15(3):245-8.
Score: 0.036
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Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. Elife. 2015 May 30; 4:e06602.
Score: 0.033
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Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. Hum Mutat. 2008 Nov; 29(11):E231-41.
Score: 0.021
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Syndromes with lissencephaly. II: Walker-Warburg and cerebro-oculo-muscular syndromes and a new syndrome with type II lissencephaly. Am J Med Genet. 1985 Sep; 22(1):157-95.
Score: 0.017
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Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nat Genet. 2005 Mar; 37(3):221-3.
Score: 0.016
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Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet. 2002 Nov; 71(5):1033-43.
Score: 0.014