Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2008 1
2010 3
2013 1
2014 2
2018 1
2019 1
2022 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

9 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Autism, susceptibility to, X-linked 4"
Page 1
Functional impact of global rare copy number variation in autism spectrum disorders.
Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Almeida J, Bacchelli E, Bader GD, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Bryson SE, Carson AR, Casallo G, Casey J, Chung BH, Cochrane L, Corsello C, Crawford EL, Crossett A, Cytrynbaum C, Dawson G, de Jonge M, Delorme R, Drmic I, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Goldberg J, Green A, Green J, Guter SJ, Hakonarson H, Heron EA, Hill M, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Korvatska O, Kustanovich V, Lajonchere CM, Lamb JA, Laskawiec M, Leboyer M, Le Couteur A, Leventhal BL, Lionel AC, Liu XQ, Lord C, Lotspeich L, Lund SC, Maestrini E, Mahoney W, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Merikangas A, Migita O, Minshew NJ, Mirza GK, Munson J, Nelson SF, Noakes C, Noor A, Nygren G, Oliveira G, Papanikolaou K, Parr JR, Parrini B, Paton T, Pickles A, Pilorge M, Piven J, Ponting CP, Posey DJ, Poustka A, Poustka F, Prasad A, Ragoussis J, Renshaw K, Ri… See abstract for full author list ➔ Pinto D, et al. Nature. 2010 Jul 15;466(7304):368-72. doi: 10.1038/nature09146. Epub 2010 Jun 9. Nature. 2010. PMID: 20531469 Free PMC article.
The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in reciprocal social interaction and communication, and the presence of restricted and repetitive behaviours. ...When comparing 996 ASD individuals of European ancestry to 1,287 mat …
The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in reciprocal social interaction and comm …
Nonsyndromic types of ichthyoses - an update.
Traupe H, Fischer J, Oji V. Traupe H, et al. J Dtsch Dermatol Ges. 2014 Feb;12(2):109-21. doi: 10.1111/ddg.12229. Epub 2013 Oct 11. J Dtsch Dermatol Ges. 2014. PMID: 24119255 Free article. Review.
It is associated with a higher risk for the development of atopic diseases, such as atopic eczema and allergic rhinitis. Recessive X-linked ichthyosis (RXLI) occurs almost exclusively in boys; in Germany it has a prevalence of around 1:4,000. It is caused by …
It is associated with a higher risk for the development of atopic diseases, such as atopic eczema and allergic rhinitis. Recessive X- …
PGD gender selection for non-Mendelian disorders with unequal sex incidence.
Amor DJ, Cameron C. Amor DJ, et al. Hum Reprod. 2008 Apr;23(4):729-34. doi: 10.1093/humrep/dem433. Epub 2008 Jan 24. Hum Reprod. 2008. PMID: 18222917 Review.
Consideration should also be given to the interests of the family and the child to be born, the seriousness of the condition and the couple's procreative autonomy. To illustrate these issues we use the example of autism, a non-Mendelian disorder that is considerably …
Consideration should also be given to the interests of the family and the child to be born, the seriousness of the condition and the couple' …
High Functioning Autism with Missense Mutations in Synaptotagmin-Like Protein 4 (SYTL4) and Transmembrane Protein 187 (TMEM187) Genes: SYTL4- Protein Modeling, Protein-Protein Interaction, Expression Profiling and MicroRNA Studies.
Rafi SK, Fernández-Jaén A, Álvarez S, Nadeau OW, Butler MG. Rafi SK, et al. Int J Mol Sci. 2019 Jul 9;20(13):3358. doi: 10.3390/ijms20133358. Int J Mol Sci. 2019. PMID: 31323913 Free PMC article.
Multiple in-silico predictions described in our study indicate a potentially damaging status for both X-linked genes. Analysis of predicted atomic threading models of the mutant and the native SYTL4 proteins suggest a potential structural change induced by th …
Multiple in-silico predictions described in our study indicate a potentially damaging status for both X-linked genes. A …
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 (ADRA1B …
BACKGROUND: Autism spectrum disorder (ASD) is a clinically and genetically heterogeneous group of neurodevelopmental disorders …
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 …
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 …
Whole-genome sequencing in a family with twin boys with autism and intellectual disability suggests multimodal polygenic risk.
McKenna B, Koomar T, Vervier K, Kremsreiter J, Michaelson JJ. McKenna B, et al. Cold Spring Harb Mol Case Stud. 2018 Dec 17;4(6):a003285. doi: 10.1101/mcs.a003285. Print 2018 Dec. Cold Spring Harb Mol Case Stud. 2018. PMID: 30559312 Free PMC article.
Over the past decade, a focus on de novo mutations has rapidly accelerated gene discovery in autism spectrum disorder (ASD), intellectual disability (ID), and other neurodevelopmental disorders (NDDs). ...Through whole-genome sequencing of the probands and their par …
Over the past decade, a focus on de novo mutations has rapidly accelerated gene discovery in autism spectrum disorder (ASD), i …
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. ...Patient 4 showed dysmorphic …
The MECP2 gene mutations cause Rett syndrome (RTT) (OMIM: 312750), an X-linked dominant disorder primarily affecting gi …