Fragile X and X-linked intellectual disability: four decades of discovery

HA Lubs, RE Stevenson, CE Schwartz - The American Journal of Human …, 2012 - cell.com
X-Linked intellectual disability (XLID) accounts for 5%–10% of intellectual disability in males.
Over 150 syndromes, the most common of which is the fragile X syndrome, have been …

A high density of X-linked genes for general cognitive ability: a run-away process shaping human evolution?

U Zechner, M Wilda, H Kehrer-Sawatzki, W Vogel… - TRENDS in …, 2001 - cell.com
The incidence of mental disability is 30% higher in males than in females. We have
examined entries in the OMIM database that are associated with mental disability and for …

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family

F Laumonnier, F Bonnet-Brilhault, M Gomot… - The American Journal of …, 2004 - cell.com
A large French family including members affected by nonspecific X-linked mental
retardation, with or without autism or pervasive developmental disorder in affected male …

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency

F Laumonnier, N Ronce, BCJ Hamel, P Thomas… - The American Journal of …, 2002 - cell.com
Physical mapping of the breakpoints of a pericentric inversion of the X chromosome (46, X,
inv [X][p21q27]) in a female patient with mild mental retardation revealed localization of the …

Molecular and comparative genetics of mental retardation

JK Inlow, LL Restifo - Genetics, 2004 - academic.oup.com
Abstract Affecting 1-3% of the population, mental retardation (MR) poses significant
challenges for clinicians and scientists. Understanding the biology of MR is complicated by …

Monogenic causes of X-linked mental retardation

J Chelly, JL Mandel - Nature Reviews Genetics, 2001 - nature.com
Mutations in X-linked genes are likely to account for the observation that more males than
females are affected by mental retardation. Causative mutations have recently been …

SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome

GD Gilfillan, KK Selmer, I Roxrud, R Smith… - The American Journal of …, 2008 - cell.com
Linkage analysis and DNA sequencing in a family exhibiting an X-linked mental retardation
(XLMR) syndrome, characterized by microcephaly, epilepsy, ataxia, and absent speech and …

X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome

A Lauren Cason, Y Ikeguchi, C Skinner… - European journal of …, 2003 - nature.com
Abstract Polyamines (putrescine, spermidine, spermine) are ubiquitous, simple molecules
that interact with a variety of other molecules in the cell, including nucleic acids …

Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX

P Strømme, ME Mangelsdorf, IE Scheffer, J Gécz - Brain and Development, 2002 - Elsevier
Clinical data from 50 mentally retarded (MR) males in nine X-linked MR families, syndromic
and non-specific, with mutations (duplication, expansion, missense, and deletion mutations) …

XLMR genes: update 2007

P Chiurazzi, CE Schwartz, J Gecz, G Neri - European Journal of Human …, 2008 - nature.com
X-linked mental retardation (XLMR) is a common cause of inherited intellectual disability
with an estimated prevalence of∼ 1/1000 males. Most XLMR conditions are inherited as X …