[HTML][HTML] Loss of ZDHHC15 expression in a woman with a balanced translocation t (X; 15)(q13. 3; cen) and severe mental retardation

MR Mansouri, L Marklund, P Gustavsson… - European journal of …, 2005 - nature.com
X-linked mental retardation (XLMR) affects one in 600 males and is highly heterogeneous.
We describe here a 29-year-old woman with severe nonsyndromic mental retardation and a …

Cloning and Characterization of DXS6673E, a Candidate Gene for X-linked Mental Retardation in Xq13.1

SM van der Maarel, IHJM Scholten… - Human molecular …, 1996 - academic.oup.com
In several families with non-specific X-linked mental retardation (XLMR) linkage analyses
have assigned the underlying gene defect to the pericentromeric region of the X …

Novel JARID1C/SMCX mutations in patients with X‐linked mental retardation

A Tzschach, S Lenzner, B Moser, R Reinhardt… - Human …, 2006 - Wiley Online Library
X-linked mental retardation (XLMR) is a heterogeneous disorder that affects approximately 2
in 1000 males. JARID1C/SMCX is relatively new among the known XLMR genes, and seven …

[HTML][HTML] Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation

LR Jensen, M Amende, U Gurok, B Moser… - The American Journal of …, 2005 - cell.com
In families with nonsyndromic X-linked mental retardation (NS-XLMR),> 30% of mutations
seem to cluster on proximal Xp and in the pericentric region. In a systematic screen of brain …

Identification of a 650 kb duplication at the X chromosome breakpoint in a patient with 46, X, t (X; 8)(q28; q12) and non-syndromic mental retardation

JJ Cox, ST Holden, S Dee, JI Burbridge… - Journal of medical …, 2003 - jmg.bmj.com
A female patient with non-syndromic mental retardation was shown by high resolution GTL
banding to have inherited an apparently balanced translocation, 46, X, t (X; 8)(q28; q12) …

Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia

FE Abidi, L Holloway, CA Moore, DD Weaver… - Journal of medical …, 2008 - jmg.bmj.com
Background: Mutations in the JARID1C (Jumonji AT-rich interactive domain 1C) gene were
recently associated with X-linked mental retardation (XLMR). Mutations in this gene are …

A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25

DA Cabezas, R Slaugh, F Abidi, JF Arena… - Journal of medical …, 2000 - jmg.bmj.com
METHODS A large family is described in which mental retardation segregates as an X linked
trait. Six affected males in three generations were studied by linkage and clinical …

X‐linked intellectual disability related genes disrupted by balanced X‐autosome translocations

M Moysés‐Oliveira, RS Guilherme… - American Journal of …, 2015 - Wiley Online Library
Detailed molecular characterization of chromosomal rearrangements involving X‐
chromosome has been a key strategy in identifying X‐linked intellectual disability‐causing …

[HTML][HTML] A functional link between the histone demethylase PHF8 and the transcription factor ZNF711 in X-linked mental retardation

D Kleine-Kohlbrecher, J Christensen, J Vandamme… - Molecular cell, 2010 - cell.com
X-linked mental retardation (XLMR) is an inherited disorder that mostly affects males and is
caused by mutations in genes located on the X chromosome. Here, we show that the XLMR …

[PDF][PDF] MEHMO (mental retardation, epileptic seizures, hypogonadism and-genitalism, microcephaly, obesity), a novel syndrome: assignment of disease locus to xp21 …

R Steinmüller, D Steinberger, U Müller - European Journal of Human …, 1998 - academia.edu
A previously unrecognised X-chromosomal mental retardation syndrome is described.
Clinical hallmarks are mental retardation, epileptic seizures, hypogonadism, and-genitalism …