William Dobyns to Syndrome
This is a "connection" page, showing publications William Dobyns has written about Syndrome.
Connection Strength
2.767
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Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR. Am J Med Genet C Semin Med Genet. 2019 12; 181(4):582-590.
Score: 0.165
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Identification of genomic loci contributing to agenesis of the corpus callosum. Am J Med Genet A. 2010 Sep; 152A(9):2145-59.
Score: 0.089
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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: 0.081
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Brain anomalies in encephalocraniocutaneous lipomatosis. Am J Med Genet A. 2007 Dec 15; 143A(24):2963-72.
Score: 0.073
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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: 0.068
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Periventricular nodular heterotopia with overlying polymicrogyria. Brain. 2005 Dec; 128(Pt 12):2811-21.
Score: 0.064
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Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype. J Med Genet. 2005 Dec; 42(12):913-21.
Score: 0.061
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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: 0.059
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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: 0.056
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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: 0.056
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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: 0.053
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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: 0.043
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Bilateral frontal polymicrogyria: a newly recognized brain malformation syndrome. Neurology. 2000 Feb 22; 54(4):909-13.
Score: 0.043
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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: 0.042
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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: 0.042
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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: 0.042
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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: 0.042
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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: 0.042
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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: 0.042
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Epilepsy and malformations of the cerebral cortex. Neurologia. 1999 May; 14 Suppl 3:32-47.
Score: 0.040
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Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome. Hum Mutat. 1999; 14(5):369-76.
Score: 0.039
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Classical lissencephaly syndromes: does the face reflect the brain? J Med Genet. 1998 Nov; 35(11):920-3.
Score: 0.039
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Bilateral periventricular nodular heterotopia with mental retardation and frontonasal malformation. Neurology. 1998 Aug; 51(2):499-503.
Score: 0.038
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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: 0.038
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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: 0.036
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Human mutations in integrator complex subunits link transcriptome integrity to brain development. PLoS Genet. 2017 May; 13(5):e1006809.
Score: 0.035
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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: 0.035
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Rapid-onset dystonia-parkinsonism in a second family. Neurology. 1997 Apr; 48(4):1066-9.
Score: 0.035
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Autosomal dominant torsion dystonia with onset in infancy. Pediatr Neurol. 1996 Oct; 15(3):245-8.
Score: 0.034
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Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. J Med Genet. 2016 06; 53(6):419-25.
Score: 0.032
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Absence makes the search grow longer. Am J Hum Genet. 1996 Jan; 58(1):7-16.
Score: 0.032
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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: 0.032
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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: 0.031
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Congenital muscular dystrophies: clinical review and proposed classification. Pediatr Neurol. 1995 Sep; 13(2):97-103.
Score: 0.031
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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: 0.030
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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.
Score: 0.030
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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: 0.029
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De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Nat Genet. 2014 May; 46(5):510-515.
Score: 0.028
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Rapid-onset dystonia-parkinsonism. Neurology. 1993 Dec; 43(12):2596-602.
Score: 0.028
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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: 0.027
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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: 0.027
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Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP. Am J Med Genet C Semin Med Genet. 2013 May; 163C(2):122-30.
Score: 0.027
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Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. Nat Genet. 2013 May; 45(5):556-62.
Score: 0.026
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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet. 2012 Jun 24; 44(8):934-40.
Score: 0.025
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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: 0.025
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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: 0.024
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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: 0.023
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Vascular abnormalities in epidermal nevus syndrome. Neurology. 1991 Feb; 41(2 ( Pt 1)):276-8.
Score: 0.023
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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: 0.022
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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: 0.022
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Expanding CEP290 mutational spectrum in ciliopathies. Am J Med Genet A. 2009 Oct; 149A(10):2173-80.
Score: 0.021
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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: 0.021
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Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). J Med Genet. 2010 Jan; 47(1):8-21.
Score: 0.020
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Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet. 1989 Feb; 32(2):195-210.
Score: 0.020
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The neurogenetics of lissencephaly. Neurol Clin. 1989 Feb; 7(1):89-105.
Score: 0.020
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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: 0.020
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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: 0.019
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Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nat Genet. 2008 Sep; 40(9):1065-7.
Score: 0.019
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Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. Am J Hum Genet. 2008 Aug; 83(2):170-9.
Score: 0.019
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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: 0.019
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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: 0.018
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Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling. Am J Hum Genet. 2007 Jul; 81(1):77-86.
Score: 0.018
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Developmental aspects of lissencephaly and the lissencephaly syndromes. Birth Defects Orig Artic Ser. 1987; 23(1):225-41.
Score: 0.017
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AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. J Med Genet. 2006 Apr; 43(4):334-9.
Score: 0.016
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Deficiency of chromosome 8p21.1----8pter: case report and review of the literature. Am J Med Genet. 1985 Sep; 22(1):125-34.
Score: 0.016
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Further comments on the lissencephaly syndromes. Am J Med Genet. 1985 Sep; 22(1):197-211.
Score: 0.016
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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: 0.016
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Computed tomographic appearance of lissencephaly syndromes. AJNR Am J Neuroradiol. 1985 Jul-Aug; 6(4):545-50.
Score: 0.015
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Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nat Genet. 2005 Mar; 37(3):221-3.
Score: 0.015
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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: 0.015
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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: 0.015
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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: 0.014
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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: 0.014
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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: 0.014
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Toriello-Carey syndrome: delineation and review. Am J Med Genet A. 2003 Nov 15; 123A(1):84-90.
Score: 0.014
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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: 0.014
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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: 0.013
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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: 0.013
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Miller-Dieker syndrome: lissencephaly and monosomy 17p. J Pediatr. 1983 Apr; 102(4):552-8.
Score: 0.013
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Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. Am J Hum Genet. 2003 Apr; 72(4):918-30.
Score: 0.013
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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: 0.013
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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: 0.012
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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: 0.011
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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: 0.010
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Clinical spectrum of Wilson's disease (hepatolenticular degeneration). Mayo Clin Proc. 1979 Jan; 54(1):35-42.
Score: 0.010
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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: 0.009
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Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia. Am J Hum Genet. 1997 Aug; 61(2):379-87.
Score: 0.009
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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: 0.009
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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: 0.009
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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: 0.008
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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: 0.008
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Familial remitting chorea, nystagmus, and cataracts. Am J Med Genet. 1993 Dec 01; 47(8):1215-7.
Score: 0.007
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Clinical manifestations and evaluation of isolated lissencephaly. Childs Nerv Syst. 1993 Nov; 9(7):387-90.
Score: 0.007
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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: 0.006
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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: 0.006
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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: 0.006
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Isolated lissencephaly: report of four patients from two unrelated families. J Child Neurol. 1990 Jan; 5(1):52-9.
Score: 0.005
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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: 0.005
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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: 0.004
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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: 0.004
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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: 0.004
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New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13. Hum Genet. 1984; 67(2):193-200.
Score: 0.003