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Quoted phrase not found in phrase index: "Autism, susceptibility to, X-linked 2"
Page 1
The role of the urokinase receptor in epilepsy, in disorders of language, cognition, communication and behavior, and in the central nervous system.
Bruneau N, Szepetowski P. Bruneau N, et al. Curr Pharm Des. 2011;17(19):1914-23. doi: 10.2174/138161211796718198. Curr Pharm Des. 2011. PMID: 21711233 Review.
Qualitative and quantitative changes in the expressions of uPAR and of its canonical ligand uPA have been observed in a large variety of epileptic disorders, either in human or in animal models, as well as in other brain diseases (stroke and brain trauma, multiple sclerosi …
Qualitative and quantitative changes in the expressions of uPAR and of its canonical ligand uPA have been observed in a large variety …
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. ...In the allele contrast model of cases versus healthy controls, significant associations were observed for Adrenoceptor Alpha 1B …
BACKGROUND: Autism spectrum disorder (ASD) is a clinically and genetically heterogeneous group of neurodevelopmental disorders …
Microdeletions of 3q29 confer high risk for schizophrenia.
Mulle JG, Dodd AF, McGrath JA, Wolyniec PS, Mitchell AA, Shetty AC, Sobreira NL, Valle D, Rudd MK, Satten G, Cutler DJ, Pulver AE, Warren ST. Mulle JG, et al. Am J Hum Genet. 2010 Aug 13;87(2):229-36. doi: 10.1016/j.ajhg.2010.07.013. Am J Hum Genet. 2010. PMID: 20691406 Free PMC article.
We focused on one 836 kb de novo deletion at chromosome 3q29 that falls within a 1.3-1.6 Mb deletion previously identified in children with intellectual disability (ID) and autism, because increasing evidence suggests an overlap of specific rare copy-number variants (CNVs) …
We focused on one 836 kb de novo deletion at chromosome 3q29 that falls within a 1.3-1.6 Mb deletion previously identified in children with …
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 …
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 …
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 a …
Alterations in the X-linked gene MECP2 encoding the methyl-CpG-binding protein 2 have been linked to autism spec …
MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype-phenotype correlations and validation of high-resolution melting analysis for mutation scanning.
Zahorakova D, Lelkova P, Gregor V, Magner M, Zeman J, Martasek P. Zahorakova D, et al. J Hum Genet. 2016 Jul;61(7):617-25. doi: 10.1038/jhg.2016.19. Epub 2016 Mar 17. J Hum Genet. 2016. PMID: 26984561
Rett syndrome (RTT) is an X-linked neurodevelopmental disorder characterized by developmental regression with loss of motor, communication and social skills, onset of stereotypic hand movements and often seizures. RTT is primarily caused by de novo mutations …
Rett syndrome (RTT) is an X-linked neurodevelopmental disorder characterized by developmental regression with loss of m …
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.
Under a strict diagnostic scheme we could exclude all screened regions of the X chromosome for a locus-specific lambda(s) of >/=2 in brother-brother pairs, demonstrating that the excess of affected males with ADHD is probably not attributable to a major X-link …
Under a strict diagnostic scheme we could exclude all screened regions of the X chromosome for a locus-specific lambda(s) of >/=2 …
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 …
20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition.
Piton A, Poquet H, Redin C, Masurel A, Lauer J, Muller J, Thevenon J, Herenger Y, Chancenotte S, Bonnet M, Pinoit JM, Huet F, Thauvin-Robinet C, Jaeger AS, Le Gras S, Jost B, Gérard B, Peoc'h K, Launay JM, Faivre L, Mandel JL. Piton A, et al. Eur J Hum Genet. 2014 Jun;22(6):776-83. doi: 10.1038/ejhg.2013.243. Epub 2013 Oct 30. Eur J Hum Genet. 2014. PMID: 24169519 Free PMC article.
It is the case of the X-linked gene encoding monoamine oxidase A (MAOA), for which only one nonsense mutation has been identified in Brunner syndrome, characterized in a single family by mild non-dysmorphic ID and impulsive, violent and aggressive behaviors. We have …
It is the case of the X-linked gene encoding monoamine oxidase A (MAOA), for which only one nonsense mutation has been identif …