William Dobyns to Brain
This is a "connection" page, showing publications William Dobyns has written about Brain.
Connection Strength
8.036
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The spectrum of brain malformations and disruptions in twins. Am J Med Genet A. 2021 09; 185(9):2690-2718.
Score: 0.372
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Subcortical heterotopic gray matter brain malformations: Classification study of 107 individuals. Neurology. 2019 10 01; 93(14):e1360-e1373.
Score: 0.342
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Two Hundred Thirty-Six Children With Developmental Hydrocephalus: Causes and Clinical Consequences. J Child Neurol. 2016 Mar; 31(3):309-20.
Score: 0.257
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Progress in autism and related disorders of brain development. Lancet Neurol. 2015 Nov; 14(11):1069-70.
Score: 0.253
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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: 0.223
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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: 0.223
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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: 0.201
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Clinical and brain imaging heterogeneity of severe microcephaly. Pediatr Neurol. 2010 Jul; 43(1):7-16.
Score: 0.181
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Brain anomalies in encephalocraniocutaneous lipomatosis. Am J Med Genet A. 2007 Dec 15; 143A(24):2963-72.
Score: 0.152
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Flores hominid: new species or microcephalic dwarf? Anat Rec A Discov Mol Cell Evol Biol. 2006 Nov; 288(11):1123-45.
Score: 0.141
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Comment on "The Brain of LB1, Homo floresiensis". Science. 2006 May 19; 312(5776):999; author reply 999.
Score: 0.136
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Periventricular nodular heterotopia with overlying polymicrogyria. Brain. 2005 Dec; 128(Pt 12):2811-21.
Score: 0.132
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Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype. J Med Genet. 2005 Dec; 42(12):913-21.
Score: 0.127
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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: 0.123
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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: 0.117
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New syndrome: focal dermal hypoplasia, morning glory anomaly, and polymicrogyria. Am J Med Genet A. 2004 Jan 15; 124A(2):202-8.
Score: 0.116
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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: 0.103
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Classification system for malformations of cortical development: update 2001. Neurology. 2001 Dec 26; 57(12):2168-78.
Score: 0.100
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NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain. Mol Cell. 2021 11 18; 81(22):4663-4676.e8.
Score: 0.099
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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: 0.098
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Expanding the KIF4A-associated phenotype. Am J Med Genet A. 2021 12; 185(12):3728-3739.
Score: 0.098
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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: 0.097
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Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia. Eur J Hum Genet. 2001 Jan; 9(1):5-12.
Score: 0.094
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Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A). J Neuropathol Exp Neurol. 2020 09 01; 79(9):998-1010.
Score: 0.092
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Diffuse polymicrogyria associated with congenital hydrocephalus, craniosynostosis, severe mental retardation, and minor facial and genital anomalies. J Child Neurol. 2000 Jul; 15(7):493-5.
Score: 0.091
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Immune Evasion Strategies Used by Zika Virus to Infect the Fetal Eye and Brain. Viral Immunol. 2020 Jan/Feb; 33(1):22-37.
Score: 0.087
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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: 0.085
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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: 0.085
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Classical lissencephaly syndromes: does the face reflect the brain? J Med Genet. 1998 Nov; 35(11):920-3.
Score: 0.081
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Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. Genet Med. 2018 11; 20(11):1354-1364.
Score: 0.078
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Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation. Eur J Paediatr Neurol. 2018 May; 22(3):525-531.
Score: 0.076
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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: 0.076
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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: 0.074
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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: 0.071
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Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients. Genet Med. 2017 06; 19(6):691-700.
Score: 0.070
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Fetal brain lesions after subcutaneous inoculation of Zika virus in a pregnant nonhuman primate. Nat Med. 2016 11; 22(11):1256-1259.
Score: 0.070
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X-linked malformations of neuronal migration. Neurology. 1996 Aug; 47(2):331-9.
Score: 0.069
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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: 0.068
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Cobblestone lissencephaly with normal eyes and muscle. Neuropediatrics. 1996 Apr; 27(2):70-5.
Score: 0.067
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Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations. J Med Genet. 2016 06; 53(6):427-30.
Score: 0.066
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Lissencephaly and other malformations of cortical development: 1995 update. Neuropediatrics. 1995 Jun; 26(3):132-47.
Score: 0.064
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Malformations of cortical development and epilepsy. Cold Spring Harb Perspect Med. 2015 May 01; 5(5):a022392.
Score: 0.063
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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: 0.063
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Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors. Neuron. 2014 Dec 17; 84(6):1226-39.
Score: 0.062
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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: 0.059
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Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. JAMA. 1993 Dec 15; 270(23):2838-42.
Score: 0.058
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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: 0.057
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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: 0.056
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PRKDC mutations in a SCID patient with profound neurological abnormalities. J Clin Invest. 2013 Jul; 123(7):2969-80.
Score: 0.055
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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: 0.055
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Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. Am J Hum Genet. 2013 Mar 07; 92(3):468-74.
Score: 0.055
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Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis. Neurology. 2012 Sep 18; 79(12):1244-51.
Score: 0.053
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Causal heterogeneity in isolated lissencephaly. Neurology. 1992 Jul; 42(7):1375-88.
Score: 0.052
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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: 0.051
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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: 0.051
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Genetic and biologic classification of infantile spasms. Pediatr Neurol. 2011 Dec; 45(6):355-67.
Score: 0.050
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Phenotypic spectrum associated with CASK loss-of-function mutations. J Med Genet. 2011 Nov; 48(11):741-51.
Score: 0.049
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Clinical and molecular diagnosis of Miller-Dieker syndrome. Am J Hum Genet. 1991 Mar; 48(3):584-94.
Score: 0.047
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Epidermal nevus syndrome: a neurologic variant with hemimegalencephaly, gyral malformation, mental retardation, seizures, and facial hemihypertrophy. Neurology. 1991 Feb; 41(2 ( Pt 1)):266-71.
Score: 0.047
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Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain. 2011 Jan; 134(Pt 1):143-56.
Score: 0.046
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Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex. Am J Hum Genet. 2010 Nov 12; 87(5):667-70.
Score: 0.046
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Agenesis of the corpus callosum and gyral malformations are frequent manifestations of nonketotic hyperglycinemia. Neurology. 1989 Jun; 39(6):817-20.
Score: 0.042
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Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet. 1989 Feb; 32(2):195-210.
Score: 0.041
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The neurogenetics of lissencephaly. Neurol Clin. 1989 Feb; 7(1):89-105.
Score: 0.041
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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: 0.040
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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: 0.039
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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: 0.039
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Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case. Neuropediatrics. 2007 Aug; 38(4):200-3.
Score: 0.037
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Developmental aspects of lissencephaly and the lissencephaly syndromes. Birth Defects Orig Artic Ser. 1987; 23(1):225-41.
Score: 0.036
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Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. Brain. 2006 Jul; 129(Pt 7):1892-906.
Score: 0.034
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Genotypically defined lissencephalies show distinct pathologies. J Neuropathol Exp Neurol. 2005 Oct; 64(10):847-57.
Score: 0.033
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Further comments on the lissencephaly syndromes. Am J Med Genet. 1985 Sep; 22(1):197-211.
Score: 0.032
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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: 0.032
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Genetic links between brain development and brain evolution. Nat Rev Genet. 2005 Jul; 6(7):581-90.
Score: 0.032
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Interneuron deficits in patients with the Miller-Dieker syndrome. Acta Neuropathol. 2005 Apr; 109(4):400-4.
Score: 0.031
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POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. J Med Genet. 2004 Oct; 41(10):e115.
Score: 0.030
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Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly. Am J Med Genet. 1984 Jul; 18(3):509-26.
Score: 0.030
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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: 0.030
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Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature. Neuropediatrics. 2003 Dec; 34(6):287-92.
Score: 0.029
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Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes. J Med Genet. 2003 Dec; 40(12):e128.
Score: 0.029
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Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. Neurology. 2003 Oct 28; 61(8):1042-6.
Score: 0.029
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14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome. Nat Genet. 2003 Jul; 34(3):274-85.
Score: 0.028
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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: 0.028
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Lissencephaly and the molecular basis of neuronal migration. Hum Mol Genet. 2003 Apr 01; 12 Spec No 1:R89-96.
Score: 0.027
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Primary microcephaly: new approaches for an old disorder. Am J Med Genet. 2002 Nov 01; 112(4):315-7.
Score: 0.027
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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: 0.026
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Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1). Hum Mutat. 2002 Jan; 19(1):4-15.
Score: 0.025
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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: 0.024
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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: 0.024
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DLG4-related synaptopathy: a new rare brain disorder. Genet Med. 2021 05; 23(5):888-899.
Score: 0.024
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Polymicrogyria and motor neuropathy in Micro syndrome. Neuropediatrics. 2000 Aug; 31(4):218-21.
Score: 0.023
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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: 0.023
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Defining the phenotypical spectrum associated with variants in TUBB2A. J Med Genet. 2021 01; 58(1):33-40.
Score: 0.023
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Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development. Mech Dev. 2000 Apr; 92(2):263-71.
Score: 0.022
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Approach to overgrowth syndromes in the genome era. Am J Med Genet C Semin Med Genet. 2019 12; 181(4):483-490.
Score: 0.022
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Duplication 2p16 is associated with perisylvian polymicrogyria. Am J Med Genet A. 2019 12; 179(12):2343-2356.
Score: 0.022
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X-linked lissencephaly with absent corpus callosum and ambiguous genitalia. Am J Med Genet. 1999 Oct 08; 86(4):331-7.
Score: 0.022
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Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. Hum Mol Genet. 1999 Sep; 8(9):1757-60.
Score: 0.021
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Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller-Dieker syndrome (MDS) critical region in chromosome 17p13.3. Am J Med Genet. 1999 Aug 06; 85(4):369-75.
Score: 0.021
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Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics. Brain. 2019 04 01; 142(4):867-884.
Score: 0.021
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LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. Hum Mol Genet. 1998 Dec; 7(13):2029-37.
Score: 0.020
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Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron. 1998 Dec; 21(6):1315-25.
Score: 0.020
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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: 0.020
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Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence. Genet Med. 1998 Nov-Dec; 1(1):29-33.
Score: 0.020
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De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. PLoS Genet. 2018 05; 14(5):e1007281.
Score: 0.020
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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: 0.019
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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: 0.019
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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: 0.018
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Human mutations in integrator complex subunits link transcriptome integrity to brain development. PLoS Genet. 2017 May; 13(5):e1006809.
Score: 0.018
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Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities. Am J Med Genet. 1997 May 02; 70(1):67-73.
Score: 0.018
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A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. Hum Mol Genet. 1997 Feb; 6(2):147-55.
Score: 0.018
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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: 0.018
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Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. Am J Med Genet A. 2016 10; 170(10):2644-51.
Score: 0.017
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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: 0.017
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Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy. Elife. 2015 Dec 03; 4.
Score: 0.016
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Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes. Hum Mol Genet. 2015 Sep 15; 24(18):5313-25.
Score: 0.016
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Agenesis of the corpus callosum and Dandy-Walker malformation associated with hemimegalencephaly in the sebaceous nevus syndrome. Am J Med Genet. 1995 Mar 27; 56(2):147-50.
Score: 0.016
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Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly. Epilepsia. 2015 Mar; 56(3):422-30.
Score: 0.016
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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: 0.015
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Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism. Am J Med Genet A. 2014 Jan; 164A(1):120-8.
Score: 0.014
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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: 0.014
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Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature. 1993 Aug 19; 364(6439):717-21.
Score: 0.014
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Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis. Am J Med Genet A. 2013 Oct; 161A(10):2420-30.
Score: 0.014
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Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of a-dystroglycan. Am J Hum Genet. 2013 Mar 07; 92(3):354-65.
Score: 0.014
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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: 0.013
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Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly. Am J Hum Genet. 1992 Jan; 50(1):182-9.
Score: 0.013
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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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Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization. Am J Hum Genet. 1991 Oct; 49(4):707-14.
Score: 0.012
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Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene. Am J Med Genet A. 2011 Oct; 155A(10):2516-20.
Score: 0.012
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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: 0.012
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X-linked hereditary hemihypotrophy hemiparesis hemiathetosis. Am J Med Genet A. 2010 Nov; 152A(11):2727-30.
Score: 0.012
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Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. Nat Genet. 2010 Nov; 42(11):1015-20.
Score: 0.012
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WDR62 is associated with the spindle pole and is mutated in human microcephaly. Nat Genet. 2010 Nov; 42(11):1010-4.
Score: 0.012
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Rapid diagnosis of Miller-Dieker syndrome and isolated lissencephaly sequence by the polymerase chain reaction. Hum Genet. 1990 Oct; 85(5):555-9.
Score: 0.012
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Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus. Am J Med Genet A. 2010 Jun; 152A(6):1488-97.
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: 0.011
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Isolated lissencephaly: report of four patients from two unrelated families. J Child Neurol. 1990 Jan; 5(1):52-9.
Score: 0.011
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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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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: 0.010
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Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome. Am J Hum Genet. 1988 Nov; 43(5):587-96.
Score: 0.010
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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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Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation. Am J Med Genet A. 2007 May 01; 143A(9):939-44.
Score: 0.009
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Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17. Am J Med Genet. 1986 Apr; 23(4):853-9.
Score: 0.008
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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: 0.007
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Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia. J Med Genet. 2003 Jun; 40(6):441-6.
Score: 0.007
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Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Nat Genet. 2002 Nov; 32(3):359-69.
Score: 0.007
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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: 0.007
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Genetic and neuroradiological heterogeneity of double cortex syndrome. Ann Neurol. 2000 Feb; 47(2):265-9.
Score: 0.006
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Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell. 1998 Jan 09; 92(1):63-72.
Score: 0.005
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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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Childhood stroke and lupus anticoagulant. Pediatr Neurol. 1994 Feb; 10(1):54-7.
Score: 0.004
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New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13. Hum Genet. 1984; 67(2):193-200.
Score: 0.002