William Dobyns to Diagnosis, Differential
This is a "connection" page, showing publications William Dobyns has written about Diagnosis, Differential.
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The "megalencephaly-capillary malformation" (MCAP) syndrome: the nomenclature of a highly recognizable multiple congenital anomaly syndrome. Am J Med Genet A. 2013 Aug; 161A(8):2115-6.
Score: 0.337
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Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. Am J Med Genet A. 2012 Feb; 158A(2):269-91.
Score: 0.304
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A developmental and genetic classification for malformations of cortical development. Neurology. 2005 Dec 27; 65(12):1873-87.
Score: 0.049
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Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations. Neuropediatrics. 2001 Oct; 32(5):256-63.
Score: 0.037
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Clinical nosologic and genetic aspects of Joubert and related syndromes. J Child Neurol. 1999 Oct; 14(10):660-6; discussion 669-72.
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Rapid-onset dystonia-parkinsonism: a report of clinical, biochemical, and genetic studies in two families. Adv Neurol. 1998; 78:335-9.
Score: 0.029
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Characterizing the Pattern of Anomalies in Congenital Zika Syndrome for Pediatric Clinicians. JAMA Pediatr. 2017 03 01; 171(3):288-295.
Score: 0.027
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Autosomal dominant torsion dystonia with onset in infancy. Pediatr Neurol. 1996 Oct; 15(3):245-8.
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Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies. J Pediatr. 2016 Nov; 178:233-240.e10.
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PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. Am J Med Genet A. 2015 Feb; 167A(2):287-95.
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Benign hereditary chorea. Pediatr Neurol. 1993 Sep-Oct; 9(5):337-40.
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Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome. Prenat Diagn. 2013 Oct; 33(10):1010-2.
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MICRO syndrome: an entity distinct from COFS syndrome. Am J Med Genet A. 2004 Jul 30; 128A(3):235-45.
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Diffuse polymicrogyria associated with an unusual pattern of multiple congenital anomalies including turribrachycephaly and hypogenitalism. Am J Med Genet. 1996 May 03; 63(1):314-7.
Score: 0.006
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Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes. Am J Med Genet. 1986 Apr; 23(4):869-901.
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