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Quoted phrase not found in phrase index: "Autism, susceptibility to, X-linked 5"
Page 1
Clinical whole exome sequencing in child neurology practice.
Srivastava S, Cohen JS, Vernon H, Barañano K, McClellan R, Jamal L, Naidu S, Fatemi A. Srivastava S, et al. Ann Neurol. 2014 Oct;76(4):473-83. doi: 10.1002/ana.24251. Epub 2014 Aug 30. Ann Neurol. 2014. PMID: 25131622
RESULTS: The overall presumptive diagnostic rate for our cohort was 41% (n = 32 of 78 patients). Nineteen patients had a single autosomal dominant (AD) disorder, 11 had a single autosomal recessive (AR) disorder, 1 had an X-linked dominant disorder …
RESULTS: The overall presumptive diagnostic rate for our cohort was 41% (n = 32 of 78 patients). Nineteen patients had a single autosomal do …
MECP2 structural and 3'-UTR variants in schizophrenia, autism and other psychiatric diseases: a possible association with autism.
Shibayama A, Cook EH Jr, Feng J, Glanzmann C, Yan J, Craddock N, Jones IR, Goldman D, Heston LL, Sommer SS. Shibayama A, et al. Am J Med Genet B Neuropsychiatr Genet. 2004 Jul 1;128B(1):50-3. doi: 10.1002/ajmg.b.30016. Am J Med Genet B Neuropsychiatr Genet. 2004. PMID: 15211631
Mutations in the gene coding for methyl-CpG-binding protein 2 (MECP2) cause Rett syndrome (RTT) and have also been reported in a number of X-linked mental retardation syndromes. Furthermore, putative mutations recently have been described in a few autistic pa …
Mutations in the gene coding for methyl-CpG-binding protein 2 (MECP2) cause Rett syndrome (RTT) and have also been reported in a number of …
Double Genetic Hit: Fragile X Syndrome and Partial Deletion of Protein Patched Homolog 1 Antisense as Cause of Severe Autism Spectrum Disorder.
Saldarriaga W, Payán-Gómez C, González-Teshima LY, Rosa L, Tassone F, Hagerman RJ. Saldarriaga W, et al. J Dev Behav Pediatr. 2020 Dec;41(9):724-728. doi: 10.1097/DBP.0000000000000850. J Dev Behav Pediatr. 2020. PMID: 32947579
BACKGROUND: Fragile X syndrome (FXS) is an X-linked genetic disorder caused by the absence of the fragile X mental retardation 1 protein. FXS is the most common inherited cause of intellectual disability and autism spectrum disorder (ASD). Appro …
BACKGROUND: Fragile X syndrome (FXS) is an X-linked genetic disorder caused by the absence of the fragile X mental reta …
A genomewide scan for loci involved in attention-deficit/hyperactivity disorder.
Fisher SE, Francks C, McCracken JT, McGough JJ, Marlow AJ, MacPhie IL, Newbury DF, Crawford LR, Palmer CG, Woodward JA, Del'Homme M, Cantwell DP, Nelson SF, Monaco AP, Smalley SL. Fisher SE, et al. Am J Hum Genet. 2002 May;70(5):1183-96. doi: 10.1086/340112. Epub 2002 Mar 28. Am J Hum Genet. 2002. PMID: 11923911 Free PMC article.
Attention deficit/hyperactivity disorder (ADHD) is a common heritable disorder with a childhood onset. ...Allele-sharing linkage methods enabled us to exclude any loci with a lambda(s) of > or =3 from 96% of the genome and those with a lambda(s) of > or =2. …
Attention deficit/hyperactivity disorder (ADHD) is a common heritable disorder with a childhood onset. ...Allele-sharing linka …
Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder.
Carter MT, Nikkel SM, Fernandez BA, Marshall CR, Noor A, Lionel AC, Prasad A, Pinto D, Joseph-George AM, Noakes C, Fairbrother-Davies C, Roberts W, Vincent J, Weksberg R, Scherer SW. Carter MT, et al. Clin Genet. 2011 Nov;80(5):435-43. doi: 10.1111/j.1399-0004.2010.01578.x. Epub 2010 Nov 29. Clin Genet. 2011. PMID: 21114665
Subsequently, this male individual was found to have a missense mutation in the X-linked PTCHD1 autism susceptibility gene, which may also contribute to the phenotype. ...Our study suggests that hemizygous deletions involving the DPYD locus present wit …
Subsequently, this male individual was found to have a missense mutation in the X-linked PTCHD1 autism susceptibilit …
Phenotypic and genotypic variability in four males with MECP2 gene sequence aberrations including a novel deletion.
Psoni S, Sofocleous C, Traeger-Synodinos J, Kitsiou-Tzeli S, Kanavakis E, Fryssira-Kanioura H. Psoni S, et al. Pediatr Res. 2010 May;67(5):551-6. doi: 10.1203/PDR.0b013e3181d4ecf7. Pediatr Res. 2010. PMID: 20098342
The MECP2 gene mutations cause Rett syndrome (RTT) (OMIM: 312750), an X-linked dominant disorder primarily affecting girls. Until RTT was considered lethal in males, although now approximately 60 cases have been reported. ...Four boys (aged, 3-11 y) were eval …
The MECP2 gene mutations cause Rett syndrome (RTT) (OMIM: 312750), an X-linked dominant disorder primarily affecting gi …