About: Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders

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About: Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders Goto Sponge NotDistinct Permalink

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scientific article published on 30 May 2002

Attributes	Values
rdf:type	Item
description	videnskabelig artikel (da) article científic (ca) articolo scientifico (it) artigo científico (pt) bilimsel makale (tr) vedecký článok (sk) vetenskaplig artikel (sv) vědecký článek (cs) wetenschappelijk artikel (nl) wissenschaftlicher Artikel (de) научни чланак (sr) bài báo khoa học (vi) article scientifique (fr) artículu científicu espublizáu en 2002 (ast) наукова стаття, опублікована в травні 2002 (uk) scientific article published on 30 May 2002 (en) مقالة علمية نشرت في 30 مايو 2002 (ar)
publication date	wds:Q37361965-8E092BA0-E453-4C58-80C7-CA4AA55D86B3
publication date	2002-05-30 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q37361965-957D0268-A9F1-44DE-9C0B-5E89242ED486
language of work or name	English
cites work	wds:Q37361965-160E376E-0779-45C5-A44D-16DC37274A6B wds:Q37361965-1B974E9E-F5BE-403C-9B20-592FD57662E2 wds:Q37361965-1BF3C746-5E2B-47C0-82BB-780A4243FC08 wds:Q37361965-2C479C8F-68B3-41A0-A21C-C02CFDE5969C wds:Q37361965-2D2CDB2E-C709-4F39-B0D9-0A84529392AE wds:Q37361965-2D8316A6-1D51-4561-9D0F-6570D8747EBC wds:Q37361965-40B73F6E-DD9F-4D34-8CAF-3AD2EF467A8A wds:Q37361965-465280DF-1B8F-4106-AE8B-4FB3A04BB725 wds:Q37361965-46B2BF92-D64B-42AA-92A3-EF78391321F4 wds:Q37361965-4BA4D28D-C535-404F-B920-5396E5BCEB6E wds:Q37361965-5BDDE4E5-FD64-42DD-B489-07D9EEF73DA9 wds:Q37361965-6B84EBC8-CE9B-4024-AB51-EC7041809361 wds:Q37361965-71206257-B5C5-4FC3-8399-C15D3337BEF9 wds:Q37361965-8CE89167-486A-4377-B065-E1E0591A3793 wds:Q37361965-8D2A56EF-2BDD-4ACE-9C74-B7BDB1E82092 wds:Q37361965-8FE2A95E-B107-42E4-8461-270DFE66A738 wds:Q37361965-95048F47-A439-4067-9921-4E18B541CB39 wds:Q37361965-A6ACF061-E03A-4257-816B-1F2442FBC70E wds:Q37361965-A9C37032-DBD8-45D6-A672-4E860D04BB66 wds:Q37361965-AF71726E-7CF1-4B4B-8F4D-C5886A502800 wds:Q37361965-BABBC50D-6B7E-4C94-B3B8-0B86770363D6 wds:Q37361965-C1A033A9-0935-4E00-8387-C9FD11278FEF wds:Q37361965-C1D49BE3-B8FC-4C61-8637-B036D54CF798 wds:Q37361965-C25F8DA5-7896-4E57-9A18-D94D95C75DC4 wds:Q37361965-E99DA7D7-2176-4E08-9D30-9D8885138403 wds:Q37361965-EFB9E05F-D072-4DDA-9072-615702AF00B6 wds:Q37361965-F048778C-3F1A-4283-9A23-29CE9E1191A6
cites work	Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 Evidence that mutations in the X-linked DDP gene cause incompletely penetrant and variable skewed X inactivation Patterns of X chromosome inactivation in the Rett syndrome Gene action in the X-chromosome of the mouse (Mus musculus L.) GENETIC TESTS WITH A SEX-LINKED MARKER: GLUCOSE-6-PHOSPHATE DEHYDROGENASE XLMR genes: update 1998. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation Mutations in GDI1 are responsible for X-linked non-specific mental retardation PAK3 mutation in nonsyndromic X-linked mental retardation Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation Monogenic causes of X-linked mental retardation. Rett syndrome: confirmation of X-linked dominant inheritance, and localization of the gene to Xq28. X chromosome-inactivation patterns in patients with Rett syndrome MECP2 is highly mutated in X-linked mental retardation. Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome Father-to-daughter transmission of focal dermal hypoplasia associated with nonrandom X-inactivation: support for X-linked inheritance and paternal X chromosome mosaicism Insights into lymphocyte development from X-linked immune deficiencies X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis Heritability of X chromosome--inactivation phenotype in a large family Genetic control of X inactivation and processes leading to X-inactivation skewing. Tissue specificity of X-chromosome inactivation patterns X inactivation in females with X-linked disease. X Inactivation in Females with X-Linked Disease A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation Syndromic XLMR genes (MRXS): update 2000. Study of X-linked mental retardation (XLMR): summary of 61 families in the Miami/Greenwood Study XLMR database.
author name string	wds:Q37361965-24F5D5F3-19EC-4612-91C6-6D72105D5095 wds:Q37361965-3EDECD4F-9457-4902-9F4D-46B825008644 wds:Q37361965-61BB48B1-7C4E-47F3-9EE3-0644844B9458 wds:Q37361965-F0CA4D8E-B47B-46D7-B255-B39F470EBF3C wds:Q37361965-FF46D5D1-9A6B-4DDF-A0C5-DB4750140049
author name string	Charles E Schwartz Herbert A Lubs Huntington F Willard Robert M Plenge Roger A Stevenson
rdfs:label	Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders (en) Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders (nl) Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders (ast)
skos:prefLabel	Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders (en) Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders (nl) Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders (ast)
name	Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders (en) Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders (nl) Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders (ast)
title	wds:Q37361965-01C84DB1-800B-4606-92BC-240B74724B22
title	Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders (en)
page(s)	wds:Q37361965-8A96F81F-AC40-49D6-A7D0-D493461698DC
page(s)	168-173
instance of	wds:Q37361965-289275A1-1087-476D-A8AF-C039DA0C9938

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