The genetic basis of non-syndromic intellectual disability: a review
Intellectual disability (ID), also referred to as mental retardation (MR), is frequently the result
of genetic mutation. Where ID is present together with additional clinical symptoms or …
of genetic mutation. Where ID is present together with additional clinical symptoms or …
Portrait of autosomal recessive diseases in the French‐Canadian founder population of Saguenay‐Lac‐Saint‐Jean
T Cruz Marino, J Leblanc, A Pratte… - American Journal of …, 2023 - Wiley Online Library
The population of the Saguenay‐Lac‐Saint‐Jean (SLSJ) region, located in the province of
Quebec, Canada, is recognized as a founder population, where some rare autosomal …
Quebec, Canada, is recognized as a founder population, where some rare autosomal …
[LIVRE][B] Consanguinity in context
AH Bittles - 2012 - books.google.com
An essential guide to this major contemporary issue, Consanguinity in Context is a uniquely
comprehensive account of intra-familial marriage. Detailed information on past and present …
comprehensive account of intra-familial marriage. Detailed information on past and present …
Reanalysis of exome sequencing data of intellectual disability samples: yields and benefits
M Al‐Nabhani, S Al‐Rashdi, F Al‐Murshedi… - Clinical …, 2018 - Wiley Online Library
Recently, with the advancement in next generation sequencing (NGS) along with the
improvement of bioinformatics tools, whole exome sequencing (WES) has become the most …
improvement of bioinformatics tools, whole exome sequencing (WES) has become the most …
Homozygosity map** in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity
R Abou Jamra, S Wohlfart, M Zweier, S Uebe… - European Journal of …, 2011 - nature.com
Non-specific intellectual disability of autosomal recessive inheritance (NS-ARID) represents
an important fraction of severe cognitive dysfunction disorders. To date, only 10 genes have …
an important fraction of severe cognitive dysfunction disorders. To date, only 10 genes have …
Mutations in the alpha 1, 2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability
We have used genome-wide genoty** to identify an overlap** homozygosity-by-
descent locus on chromosome 9q34. 3 (MRT15) in four consanguineous families affected by …
descent locus on chromosome 9q34. 3 (MRT15) in four consanguineous families affected by …
HomozygosityMapper2012—bridging the gap between homozygosity map** and deep sequencing
Homozygosity map** is a common method to map recessive traits in consanguineous
families. To facilitate these analyses, we have developed HomozygosityMapper, a web …
families. To facilitate these analyses, we have developed HomozygosityMapper, a web …
Autosomal recessive mental retardation: homozygosity map** identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots
Mental retardation (MR) has a worldwide prevalence of around 2% and is a frequent cause
of severe disability. Significant excess of MR in the progeny of consanguineous matings as …
of severe disability. Significant excess of MR in the progeny of consanguineous matings as …
Identifying genes responsible for intellectual disability in consanguineous families
Z Iqbal, H Van Bokhoven - Human heredity, 2014 - karger.com
Consanguinity is an important determinant of birth defects including intellectual disability
(ID). Consanguineous populations have a relative high prevalence of autosomal recessive …
(ID). Consanguineous populations have a relative high prevalence of autosomal recessive …
Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature
Abstract FBXL3 (F-Box and Leucine Rich Repeat Protein 3) encodes a protein that contains
an F-box and several tandem leucine-rich repeats (LRR) domains. FBXL3 is part of the SCF …
an F-box and several tandem leucine-rich repeats (LRR) domains. FBXL3 is part of the SCF …