William Dobyns to Child
This is a "connection" page, showing publications William Dobyns has written about Child.
Connection Strength
2.949
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Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders. Brain. 2022 09 14; 145(9):3274-3287.
Score: 0.098
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The Names of Things: The 2018 Bernard Sachs Lecture. Pediatr Neurol. 2021 09; 122:41-49.
Score: 0.091
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Subcortical heterotopic gray matter brain malformations: Classification study of 107 individuals. Neurology. 2019 10 01; 93(14):e1360-e1373.
Score: 0.080
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MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance. Am J Hum Genet. 2018 12 06; 103(6):1009-1021.
Score: 0.076
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Lissencephaly: Expanded imaging and clinical classification. Am J Med Genet A. 2017 Jun; 173(6):1473-1488.
Score: 0.068
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Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. JAMA Neurol. 2016 07 01; 73(7):836-845.
Score: 0.064
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A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. Am J Med Genet A. 2016 09; 170(9):2237-47.
Score: 0.064
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Semiquantitative analysis of hypothalamic damage on MRI predicts risk for hypothalamic obesity. Obesity (Silver Spring). 2015 Jun; 23(6):1226-33.
Score: 0.059
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The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes. Am J Med Genet A. 2013 Aug; 161A(8):1833-52.
Score: 0.052
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MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways. Neurogenetics. 2013 May; 14(2):99-111.
Score: 0.051
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Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion. Am J Med Genet A. 2013 Jan; 161A(1):131-6.
Score: 0.050
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Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis. Am J Med Genet A. 2012 Oct; 158A(10):2393-406.
Score: 0.049
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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: 0.047
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A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism. J Med Genet. 2010 Feb; 47(2):81-90.
Score: 0.039
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Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2. Am J Med Genet A. 2008 Jul 01; 146A(13):1637-54.
Score: 0.037
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No major role for the EMX2 gene in schizencephaly. Am J Med Genet A. 2008 May 01; 146A(9):1142-50.
Score: 0.036
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Brain anomalies in encephalocraniocutaneous lipomatosis. Am J Med Genet A. 2007 Dec 15; 143A(24):2963-72.
Score: 0.035
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Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus. Neurology. 2007 Jul 31; 69(5):427-33.
Score: 0.035
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Periventricular nodular heterotopia with overlying polymicrogyria. Brain. 2005 Dec; 128(Pt 12):2811-21.
Score: 0.031
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Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures. Neuropediatrics. 2004 Dec; 35(6):353-9.
Score: 0.029
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Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. Am J Med Genet A. 2004 03 01; 125A(2):125-34; discussion 117.
Score: 0.027
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Males with epilepsy, complete subcortical band heterotopia, and somatic mosaicism for DCX. Neurology. 2002 May 28; 58(10):1559-62.
Score: 0.024
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Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability. J Neurophysiol. 2022 07 01; 128(1):40-61.
Score: 0.024
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Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care. Brain. 2022 04 29; 145(3):925-938.
Score: 0.024
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Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticist. Eur J Paediatr Neurol. 2021 Nov; 35:27-34.
Score: 0.023
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LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ. Neurology. 2001 Aug 14; 57(3):416-22.
Score: 0.023
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Acetylsalicylic acid suppression of the PI3K pathway as a novel medical therapy for head and neck lymphatic malformations. Int J Pediatr Otorhinolaryngol. 2021 Dec; 151:110869.
Score: 0.023
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ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria. Brain. 2021 06 22; 144(5):1435-1450.
Score: 0.023
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Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes. Am J Med Genet A. 2021 09; 185(9):2719-2738.
Score: 0.023
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Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities. Am J Hum Genet. 2021 05 06; 108(5):951-961.
Score: 0.022
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Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia. Genet Med. 2021 05; 23(5):881-887.
Score: 0.022
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Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome? Am J Med Genet A. 2020 10; 182(10):2207-2213.
Score: 0.021
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Genotype-phenotype correlation at codon 1740 of SETD2. Am J Med Genet A. 2020 09; 182(9):2037-2048.
Score: 0.021
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Defining the phenotypical spectrum associated with variants in TUBB2A. J Med Genet. 2021 01; 58(1):33-40.
Score: 0.021
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Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy. Am J Med Genet A. 2020 07; 182(7):1576-1591.
Score: 0.021
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Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features. Eur J Paediatr Neurol. 2020 May; 26:46-60.
Score: 0.021
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Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly. Neuron. 2020 04 22; 106(2):237-245.e8.
Score: 0.021
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Bilateral frontal polymicrogyria: a newly recognized brain malformation syndrome. Neurology. 2000 Feb 22; 54(4):909-13.
Score: 0.021
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De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature. Eur J Hum Genet. 2020 06; 28(6):770-782.
Score: 0.021
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MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. Brain. 2020 01 01; 143(1):55-68.
Score: 0.020
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Genotype correlates with clinical severity in PIK3CA-associated lymphatic malformations. JCI Insight. 2019 11 01; 4(21).
Score: 0.020
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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: 0.020
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SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature. Am J Med Genet C Semin Med Genet. 2019 12; 181(4):509-518.
Score: 0.020
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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.
Score: 0.020
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Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. Am J Hum Genet. 2019 10 03; 105(4):689-705.
Score: 0.020
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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: 0.020
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Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly. Neurology. 1999 Jul 22; 53(2):270-7.
Score: 0.020
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De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. Am J Hum Genet. 2019 08 01; 105(2):413-424.
Score: 0.020
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Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms. Am J Hum Genet. 2019 05 02; 104(5):968-976.
Score: 0.019
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Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. Eur J Med Genet. 2020 Jan; 63(1):103624.
Score: 0.019
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Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations. Neuron. 2018 12 19; 100(6):1354-1368.e5.
Score: 0.019
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NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly. Am J Hum Genet. 2018 11 01; 103(5):752-768.
Score: 0.019
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Classical lissencephaly syndromes: does the face reflect the brain? J Med Genet. 1998 Nov; 35(11):920-3.
Score: 0.019
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Bilateral periventricular nodular heterotopia with mental retardation and frontonasal malformation. Neurology. 1998 Aug; 51(2):499-503.
Score: 0.018
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Primary brain calcification: an international study reporting novel variants and associated phenotypes. Eur J Hum Genet. 2018 10; 26(10):1462-1477.
Score: 0.018
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Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1. Eur J Hum Genet. 2018 08; 26(8):1132-1142.
Score: 0.018
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De novo mutations in GRIN1 cause extensive bilateral polymicrogyria. Brain. 2018 03 01; 141(3):698-712.
Score: 0.018
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Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly. Brain. 2017 Oct 01; 140(10):2610-2622.
Score: 0.017
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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: 0.017
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Early-Life Epilepsies and the Emerging Role of Genetic Testing. JAMA Pediatr. 2017 09 01; 171(9):863-871.
Score: 0.017
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Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy. Brain. 2017 Sep 01; 140(9):2322-2336.
Score: 0.017
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Human mutations in integrator complex subunits link transcriptome integrity to brain development. PLoS Genet. 2017 May; 13(5):e1006809.
Score: 0.017
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Rapid-onset dystonia-parkinsonism in a second family. Neurology. 1997 Apr; 48(4):1066-9.
Score: 0.017
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Comparison of brain MRI findings with language and motor function in the dystroglycanopathies. Neurology. 2017 Feb 14; 88(7):623-629.
Score: 0.017
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Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients. Genet Med. 2017 06; 19(6):691-700.
Score: 0.016
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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.
Score: 0.016
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Cobblestone lissencephaly with normal eyes and muscle. Neuropediatrics. 1996 Apr; 27(2):70-5.
Score: 0.016
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Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum". Hum Mutat. 2016 Mar; 37(3):242-5.
Score: 0.015
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Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies. Am J Med Genet. 1995 Nov 06; 59(2):204-8.
Score: 0.015
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Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study. Lancet Neurol. 2015 Dec; 14(12):1182-95.
Score: 0.015
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Familial recurrences of FOXG1-related disorder: Evidence for mosaicism. Am J Med Genet A. 2015 Dec; 167A(12):3096-102.
Score: 0.015
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Congenital muscular dystrophies: clinical review and proposed classification. Pediatr Neurol. 1995 Sep; 13(2):97-103.
Score: 0.015
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Albright hereditary osteodystrophy and del(2) (q37.3) in four unrelated individuals. Am J Med Genet. 1995 Jul 31; 58(1):1-7.
Score: 0.015
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De novo mutations in SIK1 cause a spectrum of developmental epilepsies. Am J Hum Genet. 2015 Apr 02; 96(4):682-90.
Score: 0.015
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PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia. Brain. 2015 Jun; 138(Pt 6):1613-28.
Score: 0.015
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Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA. J Pediatr. 2015 Apr; 166(4):1048-54.e1-5.
Score: 0.015
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Ultra-high-field MR imaging in polymicrogyria and epilepsy. AJNR Am J Neuroradiol. 2015 Feb; 36(2):309-16.
Score: 0.014
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Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature. Am J Med Genet A. 2014 Nov; 164A(11):2879-86.
Score: 0.014
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Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. Eur J Hum Genet. 2015 Mar; 23(3):292-301.
Score: 0.014
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Epilepsy and outcome in FOXG1-related disorders. Epilepsia. 2014 Aug; 55(8):1292-300.
Score: 0.014
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Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism. Hum Genet. 2014 Aug; 133(8):1023-39.
Score: 0.014
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The Developmental Brain Disorders Database (DBDB): a curated neurogenetics knowledge base with clinical and research applications. Am J Med Genet A. 2014 Jun; 164A(6):1503-11.
Score: 0.014
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Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. PLoS Genet. 2013; 9(10):e1003823.
Score: 0.013
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Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. Brain. 2013 Nov; 136(Pt 11):3378-94.
Score: 0.013
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Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation. Eur J Hum Genet. 2014 May; 22(5):587-93.
Score: 0.013
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Persistent figure-eight and side-to-side head shaking is a marker for rhombencephalosynapsis. Mov Disord. 2013 Dec; 28(14):2019-23.
Score: 0.013
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Benign hereditary chorea. Pediatr Neurol. 1993 Sep-Oct; 9(5):337-40.
Score: 0.013
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Neuropathology of brain and spinal malformations in a case of monosomy 1p36. Acta Neuropathol Commun. 2013 Aug 02; 1:45.
Score: 0.013
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AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). Eur J Hum Genet. 2014 Mar; 22(3):363-8.
Score: 0.013
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CDKL5 and ARX mutations in males with early-onset epilepsy. Pediatr Neurol. 2013 May; 48(5):367-77.
Score: 0.013
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Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. Brain. 2013 Feb; 136(Pt 2):536-48.
Score: 0.013
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Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria. Am J Med Genet A. 2013 Feb; 161A(2):320-6.
Score: 0.013
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Copy number variation analysis in 98 individuals with PHACE syndrome. J Invest Dermatol. 2013 Mar; 133(3):677-684.
Score: 0.012
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Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability. Hum Mutat. 2013 Jan; 34(1):237-47.
Score: 0.012
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RTTN mutations link primary cilia function to organization of the human cerebral cortex. Am J Hum Genet. 2012 Sep 07; 91(3):533-40.
Score: 0.012
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Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis. Neurology. 2012 Sep 18; 79(12):1244-51.
Score: 0.012
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Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation. Brain. 2012 Aug; 135(Pt 8):2416-27.
Score: 0.012
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Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity. Brain. 2012 May; 135(Pt 5):1370-86.
Score: 0.012
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Mechanisms of interhemispheric transfer and patterns of cognitive function in acallosal patients of normal intelligence. Arch Neurol. 1992 Mar; 49(3):271-7.
Score: 0.012
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De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet. 2012 Feb 26; 44(4):440-4, S1-2.
Score: 0.012
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New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect. Am J Med Genet A. 2011 Dec; 155A(12):3035-41.
Score: 0.012
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Phenotypic spectrum associated with CASK loss-of-function mutations. J Med Genet. 2011 Nov; 48(11):741-51.
Score: 0.012
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Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene. Am J Med Genet A. 2011 Aug; 155A(8):1865-76.
Score: 0.011
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The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. J Med Genet. 2011 Jun; 48(6):396-406.
Score: 0.011
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Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C. Am J Med Genet A. 2011 Apr; 155A(4):706-16.
Score: 0.011
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Vascular abnormalities in epidermal nevus syndrome. Neurology. 1991 Feb; 41(2 ( Pt 1)):276-8.
Score: 0.011
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Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families. Neurology. 2011 Jan 25; 76(4):373-82.
Score: 0.011
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Familial hydrocephalus with normal cognition and distinctive radiological features. Am J Med Genet A. 2010 Nov; 152A(11):2743-8.
Score: 0.011
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Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain. 2011 Jan; 134(Pt 1):143-56.
Score: 0.011
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TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. Hum Mol Genet. 2010 Jul 15; 19(14):2817-27.
Score: 0.010
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Polio vaccine and BGS. Neurology. 1990 Apr; 40(4):729.
Score: 0.010
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Copy number and sequence variants implicate APBA2 as an autism candidate gene. Autism Res. 2009 Dec; 2(6):359-64.
Score: 0.010
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Practice parameter: Evaluation of the child with microcephaly (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology. 2009 Sep 15; 73(11):887-97.
Score: 0.010
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Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females. Brain. 2009 Jun; 132(Pt 6):1563-76.
Score: 0.010
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A novel SIX3 mutation segregates with holoprosencephaly in a large family. Am J Med Genet A. 2009 May; 149A(5):919-25.
Score: 0.010
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The neurogenetics of lissencephaly. Neurol Clin. 1989 Feb; 7(1):89-105.
Score: 0.010
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Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2. Am J Med Genet A. 2009 Feb; 149A(2):129-37.
Score: 0.010
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Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype. Am J Med Genet A. 2008 Dec 15; 146A(24):3173-80.
Score: 0.009
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The molecular landscape of ASPM mutations in primary microcephaly. J Med Genet. 2009 Apr; 46(4):249-53.
Score: 0.009
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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: 0.009
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Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type. Neurology. 2008 Nov 11; 71(20):1602-8.
Score: 0.009
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Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. Biol Psychiatry. 2008 Jun 15; 63(12):1111-7.
Score: 0.009
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Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet. 2008 Feb 15; 17(4):628-38.
Score: 0.009
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Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients. Am J Med Genet A. 2007 Dec 15; 143A(24):2981-3008.
Score: 0.009
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Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum. Am J Hum Genet. 2007 Aug; 81(2):292-303.
Score: 0.009
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Familial cavernous malformations of the central nervous system and retina. Ann Neurol. 1987 Jun; 21(6):578-83.
Score: 0.009
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The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. Brain. 2007 Mar; 130(Pt 3):828-35.
Score: 0.008
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Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. Brain. 2006 Jul; 129(Pt 7):1892-906.
Score: 0.008
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Cerebellar ataxia with progressive improvement. Arch Neurol. 2006 Apr; 63(4):594-7.
Score: 0.008
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AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Ann Neurol. 2006 Mar; 59(3):527-34.
Score: 0.008
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Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts. Neuromuscul Disord. 2006 Feb; 16(2):132-6.
Score: 0.008
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Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. Ann Neurol. 2005 Nov; 58(5):680-7.
Score: 0.008
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Genotypically defined lissencephalies show distinct pathologies. J Neuropathol Exp Neurol. 2005 Oct; 64(10):847-57.
Score: 0.008
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Interneuron deficits in patients with the Miller-Dieker syndrome. Acta Neuropathol. 2005 Apr; 109(4):400-4.
Score: 0.007
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POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. J Med Genet. 2004 Oct; 41(10):e115.
Score: 0.007
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Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation. Nat Genet. 2004 Oct; 36(10):1053-5.
Score: 0.007
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MICRO syndrome: an entity distinct from COFS syndrome. Am J Med Genet A. 2004 Jul 30; 128A(3):235-45.
Score: 0.007
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The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. Am J Hum Genet. 2004 Jul; 75(1):82-91.
Score: 0.007
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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: 0.007
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Toriello-Carey syndrome: delineation and review. Am J Med Genet A. 2003 Nov 15; 123A(1):84-90.
Score: 0.007
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Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16. Ann Neurol. 2003 May; 53(5):596-606.
Score: 0.006
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Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females. Brain. 2002 Nov; 125(Pt 11):2507-22.
Score: 0.006
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"Molecular rulers" for calibrating phenotypic effects of telomere imbalance. J Med Genet. 2002 Oct; 39(10):734-40.
Score: 0.006
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Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene. Neurology. 2001 Jul 24; 57(2):327-30.
Score: 0.006
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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: 0.006
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Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14. J Med Genet. 2001 Jan; 38(1):26-34.
Score: 0.005
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Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings. Pediatr Radiol. 2000 Nov; 30(11):748-55.
Score: 0.005
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Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes. Am J Hum Genet. 2000 Sep; 67(3):574-81.
Score: 0.005
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Familial perisylvian polymicrogyria: a new familial syndrome of cortical maldevelopment. Ann Neurol. 2000 Jul; 48(1):39-48.
Score: 0.005
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Genetic and neuroradiological heterogeneity of double cortex syndrome. Ann Neurol. 2000 Feb; 47(2):265-9.
Score: 0.005
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Unsuccessful physostigmine therapy in Reye syndrome. Ann Neurol. 1979 Aug; 6(2):141.
Score: 0.005
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Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13. Ann Neurol. 1999 Aug; 46(2):176-82.
Score: 0.005
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Microcephaly with simplified gyral pattern in six related children. Am J Med Genet. 1999 May 21; 84(2):137-44.
Score: 0.005
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Clinical spectrum of Wilson's disease (hepatolenticular degeneration). Mayo Clin Proc. 1979 Jan; 54(1):35-42.
Score: 0.005
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Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. Hum Mol Genet. 1997 Feb; 6(2):157-64.
Score: 0.004
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Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I. J Neurol. 1996 Oct; 243(10):700-5.
Score: 0.004
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Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation. Am J Med Genet. 1995 Jul 03; 57(3):403-9.
Score: 0.004
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Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Nat Genet. 1995 Apr; 9(4):358-64.
Score: 0.004
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Familial remitting chorea, nystagmus, and cataracts. Am J Med Genet. 1993 Dec 01; 47(8):1215-7.
Score: 0.003
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Antibodies to ACTH in opsoclonus-myoclonus. Neuropediatrics. 1993 Jun; 24(3):131-3.
Score: 0.003
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Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). Am J Hum Genet. 1991 Dec; 49(6):1207-18.
Score: 0.003
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Plasmapheresis with acute inflammatory polyneuropathy. Pediatr Neurol. 1990 Jan-Feb; 6(1):17-9.
Score: 0.003
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Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome. Am J Med Genet. 1986 Jul; 24(3):421-32.
Score: 0.002
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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.
Score: 0.002