About: A large patient study confirming that facioscapulohumeral muscular dystrophy (FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA-defined 4qter subtelomere

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: A large patient study confirming that facioscapulohumeral muscular dystrophy (FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA-defined 4qter subtelomere Goto Sponge NotDistinct Permalink

An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

scientific article published on 20 September 2006

Attributes	Values
rdf:type	Item
description	videnskabelig artikel (da) article científic (ca) article scientific (oc) articol științific (ro) articolo scientifico (it) artigo científico (gl) artigo científico (pt) artigo científico (pt-br) artikull shkencor (sq) artikulong pang-agham (tl) artykuł naukowy (pl) bilimsel makale (tr) scienca artikolo (eo) teaduslik artikkel (et) tieteellinen artikkeli (fi) tudományos cikk (hu) vedecký článok (sk) vetenskaplig artikel (sv) vitenskapelig artikkel (nb) vitskapeleg artikkel (nn) vědecký článek (cs) wetenschappelijk artikel (nl) wissenschaftlicher Artikel (de) επιστημονικό άρθρο (el) научна статия (bg) научная статья (ru) научни чланак (sr) מאמר מדעי (he) სამეცნიერო სტატია (ka) บทความทางวิทยาศาสตร์ (th) artikel ilmiah (id) bài báo khoa học (vi) naučni članak (sr-el) мақолаи илмӣ (tg-cyrl) научни чланак (sr-ec) article scientifique (fr) artículu científicu espublizáu en 2006 (ast) 2006 nî lūn-bûn (nan) 2006年の論文 (ja) 2006年論文 (zh-hk) 2006年論文 (zh-tw) 2006年論文 (zh-hant) 2006年論文 (yue) 2006年論文 (zh-mo) 2006年论文 (zh) 2006年论文 (zh-cn) 2006年论文 (zh-sg) 2006年论文 (zh-hans) 2006年论文 (wuu) 2006年论文 (zh-my) 2006년 논문 (ko) artículo científico publicado en 2006 (es) наукова стаття, опублікована у вересні 2006 (uk) ২০ সেপ্টেম্বর ২০০৬-এ প্রকাশিত বৈজ্ঞানিক নিবন্ধ (bn) scientific article published on 20 September 2006 (en) scientific article published on 20 September 2006 (en-ca) scientific article published on 20 September 2006 (en-gb) مقالة علمية نشرت في 20 سبتمبر 2006 (ar)
publication date	wds:Q42706421-E2B595A3-1E52-40E7-8499-F718FD7D66AF
publication date	2006-09-20 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q42706421-600D19E7-BD40-427E-A5FA-6408A8FED55E
language of work or name	English
cites work	wds:Q42706421-2ED4A41D-0CE5-459D-95B4-78512274F8ED wds:Q42706421-3A4E1E2F-8ED8-4972-8028-5CCF5D18A581 wds:Q42706421-4B73AD77-9A64-4FF7-B228-256443E6D33D wds:Q42706421-5C66AFFD-6440-4B93-B6DB-BA848CC063B9 wds:Q42706421-6582B7E7-D7A8-45A1-ADA7-8A31C42EA125 wds:Q42706421-68B6E338-20F3-4932-8383-9D33B536BE21 wds:Q42706421-77FB67BE-AF4D-44BF-9E7B-A4B7F7480D8B wds:Q42706421-87F05694-555E-4BC3-814F-136AFFDA1E11 wds:Q42706421-C14B0F43-2B93-431A-BDD8-88F7E01B6A5A wds:Q42706421-D0249F21-9A11-4FA6-AB71-D7B4DEC71CB1 wds:Q42706421-E8A5D7FC-ACAF-453B-BF13-0B1503721038 wds:Q42706421-FEE32D46-F0DD-46E4-91DB-DCCC680ACAB5
cites work	D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection. Mapping of facioscapulohumeral muscular dystrophy gene to chromosome 4q35-qter by multipoint linkage analysis and in situ hybridization FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy. Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin. High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DY Group. Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD) Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD Recurrent somatic mosaicism for D4Z4 contractions in a family with facioscapulohumeral muscular dystrophy Prenatal diagnosis for facioscapulohumeral muscular dystrophy (FSHD)
author name string	wds:Q42706421-26320490-B529-4027-BE80-90A65C30E2B2 wds:Q42706421-62200EC5-6094-4B55-9E43-8FE2B44FAA81 wds:Q42706421-81FF0E89-FD6B-4B23-BA62-1F8288A01275 wds:Q42706421-940343D7-E2E7-4954-9424-38F8E127C8C8 wds:Q42706421-ECDDEA94-71FF-431B-B6A3-D4C4EA0C363F
author name string	G Spurlock M MacDonald M Upadhyaya K Wiseman N S T Thomas
rdfs:label	A large patient study confirming that facioscapulohumeral muscular dystrophy (nl) A large patient study confirming that facioscapulohumeral muscular dystrophy (FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA-defined 4qter subtelomere (en)
skos:prefLabel	A large patient study confirming that facioscapulohumeral muscular dystrophy (nl)

Faceted Search & Find service v1.16.117 as of May 05 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3239 as of May 5 2024, on Linux (x86_64-centos_6-linux-gnu), Single-Server Edition (378 GB total memory, 190 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software