Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. (Q36927223)

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7 January 2020

title

Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH (English)

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5

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Joris A Veltman

12

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Hans van Bokhoven

15

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author name string

D Lugtenberg

1

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A P M de Brouwer

2

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T Kleefstra

3

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A R Oudakker

4

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C T R M Schrander-Stumpel

6

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J P Fryns

7

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L R Jensen

8

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J Chelly

9

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C Moraine

10

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G Turner

11

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B C J Hamel

13

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B B A de Vries

14

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H G Yntema

16

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language of work or name

English

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publication date

16 September 2005

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Journal of Medical Genetics

7 January 2020

published in

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volume

43

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page(s)

362-370

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issue

4

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Diagnostic genome profiling in mental retardation

7 January 2020

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Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

29 September 2017

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29 September 2017

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29 September 2017

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Mapping and characterization of the mouse and human SS18 genes, two human SS18-like genes and a mouse Ss18 pseudogene

29 September 2017

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29 September 2017

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Functional analysis of ARHGAP6, a novel GTPase-activating protein for RhoA

29 September 2017

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X-linked mental retardation: evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region

29 September 2017

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Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis

29 September 2017

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Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22

29 September 2017

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Xp-duplications with and without sex reversal

29 September 2017

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Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to chromosomal region Xp21.1-Xp22.3

29 September 2017

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29 September 2017

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Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome

29 September 2017

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4 September 2018

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4 September 2018

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Another family with nonspecific X-linked mental retardation (MRX78) maps to Xp11.4-p11.23.

4 September 2018

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Systematic analysis of X-inactivation in 19XLMR families: extremely skewed profiles in carriers in three families.

4 September 2018

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4 September 2018

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X-linked mental retardation with isolated growth hormone deficiency is mapped to Xq22-Xq27.2 in one family

4 September 2018

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4 September 2018

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Pericentromeric genes for non-specific X-linked mental retardation (MRX)

4 September 2018

1 reference

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Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses

20 October 2018

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12 December 2020

X-linked mental retardation with neonatal hypotonia in a French family (MRX15): gene assignment to Xp11.22-Xp21.1.

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12 December 2020

Further linkage evidence for localization of mutational sites for nonsyndromic types of X-linked mental retardation at the pericentromeric region

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12 December 2020

How many X-linked genes for non-specific mental retardation (MRX) are there?

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12 December 2020

Identifiers

DOI

10.1136/JMG.2005.036178

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7 January 2020

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7 January 2020

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