About: Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfoot

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

About: Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfoot Goto Sponge NotDistinct Permalink

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

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в липні 2012 (uk) im Juli 2012 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q62937915-7F65C72E-94A7-4381-811F-06FE6C25B1E8
publication date	2012-07-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q62937915-098F4A7C-8DD1-4D30-B2F3-6AD335C18EAC
language of work or name	English
cites work	wds:Q62937915-03316EF2-5B78-406C-84D9-AC881CC96A88 wds:Q62937915-0F181E64-0AF6-4DFA-949C-F4A2C23E679E wds:Q62937915-22E3996E-5D37-44D0-95F5-53EF12265FFA wds:Q62937915-2AB14154-D280-470B-A63C-6685BD6B859A wds:Q62937915-33453E75-338E-4822-B5C6-EC0438DF1E52 wds:Q62937915-3A1B56D5-3EF6-4E0C-AA21-577A054B19CE wds:Q62937915-3D892F22-609A-44FC-AEB7-7DD0D503EE4C wds:Q62937915-46938163-E7FF-4850-95D1-183D0982BEDB wds:Q62937915-53D023E4-79DF-4D9B-967E-67D7817B7F29 wds:Q62937915-55D19F58-5475-4E50-BB61-305AFC15FD12 wds:Q62937915-591B9843-A2D8-4337-9AB9-1146F5FFCBE2 wds:Q62937915-5B9F9AE3-1DD5-48E0-9CAE-4D3314E32185 wds:Q62937915-6D3CDC4A-7BBD-4BC1-AC41-D06E8130A826 wds:Q62937915-72CC31DA-768A-45C9-B058-58EC25BE62F8 wds:Q62937915-811B98EB-6350-42D3-B2F0-DFDD2E5048F1 wds:Q62937915-841579AD-ABD5-4336-87A8-3510C2317AA0 wds:Q62937915-8601A57A-265A-41EF-B0C7-ED5277B8EF4D wds:Q62937915-8BDE3558-C384-4216-B436-A454580790FD wds:Q62937915-95664C5E-0A49-4D85-B2CA-AC9714BE612D wds:Q62937915-A22A8799-0F85-4E30-896A-70B5D4767775 wds:Q62937915-A7A45059-2670-48A6-A7E0-36164BAFC3DC wds:Q62937915-A9CD49CD-A465-49F0-A5E6-56F65D9E9C90 wds:Q62937915-B6CC23CE-7C08-4D78-86AB-3EAB8D50F8A9 wds:Q62937915-C30A1114-CB59-4833-BCD8-5BF0EA450E53 wds:Q62937915-C98229EA-D1B8-4034-AA72-514B9A6346A1 wds:Q62937915-D0B121F0-1164-49B2-831F-45035387C638 wds:Q62937915-E537DA25-8597-4DB1-9780-0497EDC745B3 wds:Q62937915-E654601F-CB23-427C-823A-4B438501BA90 wds:Q62937915-E790B0F0-399C-403B-A335-308C80D76950 wds:Q62937915-ECB5C114-F50D-466E-BC3D-486624A3E039 wds:Q62937915-F27C09FE-2DC5-43C2-805E-ED61878CD21F wds:Q62937915-F9B97017-F87E-49C2-A56F-E23C05EE35CE wds:Q62937915-FBA22767-B364-4782-B092-C29662CFFA13 wds:Q62937915-FE2515B9-60D0-4699-B9E1-8B282F0A14F6
cites work	Merlin--rapid analysis of dense genetic maps using sparse gene flow trees The APL test: extension to general nuclear families and haplotypes and examination of its robustness Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4. A single-gene explanation for the probability of having idiopathic talipes equinovarus Dual hindlimb control elements in the Tbx4 gene and region-specific control of bone size in vertebrate limbs. Altered transmission of HOX and apoptotic SNPs identify a potential common pathway for clubfoot. Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot. Apoptotic Gene Analysis in Idiopathic Talipes Equinovarus (Clubfoot) Variation in CASP10 gene is associated with idiopathic talipes equinovarus Expression of the T-box family genes, Tbx1-Tbx5, during early mouse development. Role of Pitx1 upstream of Tbx4 in specification of hindlimb identity. BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function GOLD--graphical overview of linkage disequilibrium A test for linkage and association in general pedigrees: the pedigree disequilibrium test Genotype‐based association test for general pedigrees: The genotype‐PDT Detection of clinically relevant exonic copy-number changes by array CGH. Tbx5 and Tbx4 trigger limb initiation through activation of the Wnt/Fgf signaling cascade Tbx4 and tbx5 acting in connective tissue are required for limb muscle and tendon patterning A chromosomal duplication map of malformations: regions of suspected haplo- and triplolethality--and tolerance of segmental aneuploidy--in humans Pitx1 determines the morphology of muscle, tendon, and bones of the hindlimb Genetics of common disorders Family history, maternal smoking, and clubfoot: an indication of a gene-environment interaction Genetic and epidemiological studies of clubfoot in Hawaii: ascertainment and incidence Impact of congenital talipes equinovarus etiology on treatment outcomes. Outcome of antenatally diagnosed talipes equinovarus in an unselected obstetric population. Idiopathic talipes equinovarus (ITEV) (clubfeet) in Texas Risk indicators for talipes equinovarus in Washington State, 1987-1989 The inheritance of common congenital malformations cis-regulatory mutations are a genetic cause of human limb malformations Tbx4 is not required for hindlimb identity or post-bud hindlimb outgrowth. Segregation analysis of idiopathic talipes equinovarus in a Texan population A chromosomal deletion map of human malformations. Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities Na/Ca exchanger isoforms expressed in kidney.
author name string	wds:Q62937915-14E15844-4BCB-48E8-B19F-E669DE88FF6F wds:Q62937915-3468EACA-6A6E-4140-A1E3-82A4BD801EC5 wds:Q62937915-3C3D6BA2-D63F-472B-AE41-AB8EA55335E7 wds:Q62937915-487247D9-B915-4345-B89B-D713BE51675A wds:Q62937915-71FB6464-F00E-4C61-AF4D-16BF15B90634 wds:Q62937915-76DB134C-85C5-438A-9807-1233531C1AFD wds:Q62937915-84F4768C-6734-46CD-A986-C8BE629ECDAF wds:Q62937915-93B02289-0CCE-4469-87A8-AD5E250DF192 wds:Q62937915-A286865A-51F7-4FCD-BE61-8F6EC7086A5E wds:Q62937915-BA05344C-14AA-4930-BAA8-E16A88DCBF94
author name string	J T Hecht W Lu S H Blanton C A Bacino C Alvarez M Vella N Sikka F R Dietz B S Richards J E VanderMeer
rdfs:label	Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfoot (en) Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfoot (nl)
skos:prefLabel	Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfoot (en) Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfoot (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, 180 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2025 OpenLink Software