William Dobyns to Magnetic Resonance Imaging
This is a "connection" page, showing publications William Dobyns has written about Magnetic Resonance Imaging.
Connection Strength
2.531
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Lissencephaly: Expanded imaging and clinical classification. Am J Med Genet A. 2017 Jun; 173(6):1473-1488.
Score: 0.258
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Clinical and brain imaging heterogeneity of severe microcephaly. Pediatr Neurol. 2010 Jul; 43(1):7-16.
Score: 0.161
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Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. Brain. 2010 May; 133(Pt 5):1415-27.
Score: 0.158
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Subcortical heterotopic gray matter brain malformations: Classification study of 107 individuals. Neurology. 2019 10 01; 93(14):e1360-e1373.
Score: 0.076
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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: 0.063
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Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients. Genet Med. 2017 06; 19(6):691-700.
Score: 0.062
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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: 0.057
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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: 0.056
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Ultra-high-field MR imaging in polymicrogyria and epilepsy. AJNR Am J Neuroradiol. 2015 Feb; 36(2):309-16.
Score: 0.054
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De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy. Am J Hum Genet. 2014 Apr 03; 94(4):634-41.
Score: 0.052
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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: 0.045
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Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible? Am J Med Genet A. 2010 Sep; 152A(9):2268-76.
Score: 0.041
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Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes. Am J Med Genet A. 2009 May; 149A(5):868-76.
Score: 0.037
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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: 0.034
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Brain anomalies in encephalocraniocutaneous lipomatosis. Am J Med Genet A. 2007 Dec 15; 143A(24):2963-72.
Score: 0.034
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A developmental classification of malformations of the brainstem. Ann Neurol. 2007 Dec; 62(6):625-39.
Score: 0.034
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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: 0.033
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Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation. Am J Med Genet A. 2006 Nov 15; 140(22):2416-25.
Score: 0.031
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Periventricular nodular heterotopia with overlying polymicrogyria. Brain. 2005 Dec; 128(Pt 12):2811-21.
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: 0.026
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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: 0.024
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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: 0.024
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Primary microcephaly: new approaches for an old disorder. Am J Med Genet. 2002 Nov 01; 112(4):315-7.
Score: 0.024
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Refining the Neuroimaging Definition of the Dandy-Walker Phenotype. AJNR Am J Neuroradiol. 2022 10; 43(10):1488-1493.
Score: 0.023
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A locus for bilateral perisylvian polymicrogyria maps to Xq28. Am J Hum Genet. 2002 Apr; 70(4):1003-8.
Score: 0.022
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Lissencephaly: Update on diagnostics and clinical management. Eur J Paediatr Neurol. 2021 Nov; 35:147-152.
Score: 0.022
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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: 0.022
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Radiologic classification of malformations of cortical development. Curr Opin Neurol. 2001 Apr; 14(2):145-9.
Score: 0.021
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Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A). J Neuropathol Exp Neurol. 2020 09 01; 79(9):998-1010.
Score: 0.020
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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: 0.020
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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: 0.020
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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: 0.020
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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: 0.020
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Bilateral frontal polymicrogyria: a newly recognized brain malformation syndrome. Neurology. 2000 Feb 22; 54(4):909-13.
Score: 0.020
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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: 0.019
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Genotype correlates with clinical severity in PIK3CA-associated lymphatic malformations. JCI Insight. 2019 11 01; 4(21).
Score: 0.019
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Duplication 2p16 is associated with perisylvian polymicrogyria. Am J Med Genet A. 2019 12; 179(12):2343-2356.
Score: 0.019
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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: 0.019
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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: 0.019
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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: 0.019
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Epilepsy and malformations of the cerebral cortex. Neurologia. 1999 May; 14 Suppl 3:32-47.
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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De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. PLoS Genet. 2018 05; 14(5):e1007281.
Score: 0.017
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De novo mutations in GRIN1 cause extensive bilateral polymicrogyria. Brain. 2018 03 01; 141(3):698-712.
Score: 0.017
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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: 0.017
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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: 0.017
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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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Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: a new X-linked mental retardation syndrome. Neurology. 1997 Oct; 49(4):1042-7.
Score: 0.017
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GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. J Med Genet. 2017 07; 54(7):460-470.
Score: 0.016
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Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22. Am J Med Genet A. 2017 Jan; 173(1):245-249.
Score: 0.016
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Congenital pontocerebellar atrophy in three patients: clinical, radiologic and etiologic considerations. Neuroradiology. 1996 Oct; 38(7):684-7.
Score: 0.015
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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: 0.015
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X-linked malformations of neuronal migration. Neurology. 1996 Aug; 47(2):331-9.
Score: 0.015
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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: 0.015
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Cobblestone lissencephaly with normal eyes and muscle. Neuropediatrics. 1996 Apr; 27(2):70-5.
Score: 0.015
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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: 0.015
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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: 0.014
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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: 0.014
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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: 0.014
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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: 0.014
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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: 0.013
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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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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: 0.012
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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: 0.012
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CDKL5 and ARX mutations in males with early-onset epilepsy. Pediatr Neurol. 2013 May; 48(5):367-77.
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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Causal heterogeneity in isolated lissencephaly. Neurology. 1992 Jul; 42(7):1375-88.
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: 0.011
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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: 0.011
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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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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: 0.010
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Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families. Neurology. 2011 Jan 25; 76(4):373-82.
Score: 0.010
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X-linked hereditary hemihypotrophy hemiparesis hemiathetosis. Am J Med Genet A. 2010 Nov; 152A(11):2727-30.
Score: 0.010
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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: 0.010
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Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain. 2011 Jan; 134(Pt 1):143-56.
Score: 0.010
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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: 0.010
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Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. Am J Hum Genet. 2010 Sep 10; 87(3):354-64.
Score: 0.010
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Pontocerebellar hypoplasia type 6: A British case with PEHO-like features. Am J Med Genet A. 2010 Aug; 152A(8):2079-84.
Score: 0.010
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Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome? Am J Med Genet A. 2010 Jul; 152A(7):1621-6.
Score: 0.010
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A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly affected mother with somatic mosaicism. J Child Neurol. 2010 Jun; 25(6):738-41.
Score: 0.010
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The neurogenetics of lissencephaly. Neurol Clin. 1989 Feb; 7(1):89-105.
Score: 0.009
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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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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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The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families. Neurology. 2008 Feb 12; 70(7):556-65.
Score: 0.009
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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: 0.008
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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: 0.007
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AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Ann Neurol. 2006 Mar; 59(3):527-34.
Score: 0.007
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Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. Ann Neurol. 2005 Nov; 58(5):680-7.
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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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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Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mutat. 2004 Feb; 23(2):147-159.
Score: 0.006
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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: 0.006
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Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. Neurology. 2003 Oct 28; 61(8):1042-6.
Score: 0.006
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Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations. Ann Neurol. 2003 Jul; 54(1):30-7.
Score: 0.006
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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: 0.006
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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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Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. Hum Mol Genet. 2001 Aug 15; 10(17):1775-83.
Score: 0.005
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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: 0.005
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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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Polymicrogyria and motor neuropathy in Micro syndrome. Neuropediatrics. 2000 Aug; 31(4):218-21.
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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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: 0.005
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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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Characterization of mutations in the gene doublecortin in patients with double cortex syndrome. Ann Neurol. 1999 Feb; 45(2):146-53.
Score: 0.005
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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: 0.004
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Microlissencephaly: a heterogeneous malformation of cortical development. Neuropediatrics. 1998 Jun; 29(3):113-9.
Score: 0.004
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Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset. Ann Neurol. 1997 Dec; 42(6):933-50.
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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Childhood stroke and lupus anticoagulant. Pediatr Neurol. 1994 Feb; 10(1):54-7.
Score: 0.003
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Clinical manifestations and evaluation of isolated lissencephaly. Childs Nerv Syst. 1993 Nov; 9(7):387-90.
Score: 0.003
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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: 0.003