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Quoted phrase not found in phrase index: "Autism, susceptibility to, X-linked 2"
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Synthesis of genetic association studies on autism spectrum disorders using a genetic model-free approach.
Mpoulimari I, Zintzaras E. Mpoulimari I, et al. Psychiatr Genet. 2022 Jun 1;32(3):91-104. doi: 10.1097/YPG.0000000000000316. Epub 2022 Mar 31. Psychiatr Genet. 2022. PMID: 35353796
BACKGROUND: Autism spectrum disorder (ASD) is a clinically and genetically heterogeneous group of neurodevelopmental disorders. ...For variants with available allele frequencies, the examined model was the allele contrast. RESULTS: Overall, 57 candidate genes …
BACKGROUND: Autism spectrum disorder (ASD) is a clinically and genetically heterogeneous group of neurodevelopmental disorders …
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.
Jiang YH, Yuen RK, Jin X, Wang M, Chen N, Wu X, Ju J, Mei J, Shi Y, He M, Wang G, Liang J, Wang Z, Cao D, Carter MT, Chrysler C, Drmic IE, Howe JL, Lau L, Marshall CR, Merico D, Nalpathamkalam T, Thiruvahindrapuram B, Thompson A, Uddin M, Walker S, Luo J, Anagnostou E, Zwaigenbaum L, Ring RH, Wang J, Lajonchere C, Wang J, Shih A, Szatmari P, Yang H, Dawson G, Li Y, Scherer SW. Jiang YH, et al. Am J Hum Genet. 2013 Aug 8;93(2):249-63. doi: 10.1016/j.ajhg.2013.06.012. Epub 2013 Jul 11. Am J Hum Genet. 2013. PMID: 23849776 Free PMC article.
Autism Spectrum Disorder (ASD) demonstrates high heritability and familial clustering, yet the genetic causes remain only partially understood as a result of extensive clinical and genomic heterogeneity. ...Among ASD probands, we identified deleterious de novo mutat …
Autism Spectrum Disorder (ASD) demonstrates high heritability and familial clustering, yet the genetic causes remain only part …
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 …
The behavioral phenotype in MECP2 duplication syndrome: a comparison with idiopathic autism.
Peters SU, Hundley RJ, Wilson AK, Warren Z, Vehorn A, Carvalho CM, Lupski JR, Ramocki MB. Peters SU, et al. Autism Res. 2013 Feb;6(1):42-50. doi: 10.1002/aur.1262. Epub 2012 Nov 20. Autism Res. 2013. PMID: 23169761 Free PMC article.
Alterations in the X-linked gene MECP2 encoding the methyl-CpG-binding protein 2 have been linked to autism spectrum disorders (ASDs). ...Within the MECP2 duplication group, breakpoint size does not predict differences in clinical severity. In addition …
Alterations in the X-linked gene MECP2 encoding the methyl-CpG-binding protein 2 have been linked to autism spectrum di …
The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation.
Puusepp H, Kall K, Salomons GS, Talvik I, Männamaa M, Rein R, Jakobs C, Õunap K. Puusepp H, et al. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S5-11. doi: 10.1007/s10545-008-1063-y. J Inherit Metab Dis. 2010. PMID: 24137762
The urinary creatine:creatinine (Cr:Crn) ratio was measured in males from 49 families with a family history compatible with X-linked mental retardation (XLMR) in order to estimate the prevalence of SLC6A8 deficiency in Estonia. ...Patients 1 and 3 had relatively mil …
The urinary creatine:creatinine (Cr:Crn) ratio was measured in males from 49 families with a family history compatible with X-link …