About: Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature

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About: Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature Goto Sponge NotDistinct Permalink

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scientific article published on 14 June 2013

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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) article scientifique (fr) artículu científicu espublizáu en 2013 (ast) наукова стаття, опублікована в червні 2013 (uk) scientific article published on 14 June 2013 (en) مقالة علمية نشرت في 14 يونيو 2013 (ar)
publication date	wds:Q37071236-F4EBECB6-1187-4F94-8936-89A0C60BDCBF
publication date	2013-06-14 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q37071236-B225F3D0-DF27-471C-8DB0-DAAA283272E3
language of work or name	English
cites work	wds:Q37071236-17530D80-8FE3-4B3F-B0CE-8675A0EFACB6 wds:Q37071236-2137CBD6-0646-4CFA-B3D3-B107EB4C10AF wds:Q37071236-218A8480-6B12-49A4-B728-7387815CF3FF wds:Q37071236-2483E836-0031-416D-BDF1-259BB7E8DE90 wds:Q37071236-30044017-22BF-4FF2-944C-11F21C1955F0 wds:Q37071236-34EBBFD4-3AEE-4682-B192-5CD6E7ED6EE4 wds:Q37071236-3AC3B717-E422-4E2F-A86B-9CEF2FAD80FA wds:Q37071236-41D8018B-5342-49D8-AAB4-DE99494B5608 wds:Q37071236-46473588-9BF7-4E30-9CEE-86DF802DD9C5 wds:Q37071236-58A26952-5221-47EA-BBA6-33104356828B wds:Q37071236-751BFB98-379D-479C-9191-50FDB78743C7 wds:Q37071236-78849A7F-7E61-4343-9C1F-A038898D4833 wds:Q37071236-7AD80E5D-5D4C-44C3-B2DE-63A9E6D641AD wds:Q37071236-7EFABEDA-A7BB-4624-8A6E-A253EC8613F9 wds:Q37071236-8EAB8D52-7A1C-448F-9426-62945470619B wds:Q37071236-BA7B8437-B6F3-458F-A8A9-E97ADB01E65D wds:Q37071236-BFD0DF2E-E1AA-4C84-B4D7-920087047D39 wds:Q37071236-DC7D644D-347D-49BD-A2BE-55EDD2F40233 wds:Q37071236-E9B113BD-5016-4873-9ABC-E9505654998B wds:Q37071236-ECCF2656-AF3E-4C92-A736-40B6493086DA wds:Q37071236-EF0E1B7E-A747-4252-9C68-C11FA1B7F6A1 wds:Q37071236-F57277A5-A13C-47A2-B2E1-05526A901FE6 wds:Q37071236-FD5C0DA4-1890-41E2-94B8-707BB1B65B2A
cites work	A map of human genome variation from population-scale sequencing Consensus statement on the diagnosis and treatment of children with idiopathic short stature: a summary of the Growth Hormone Research Society, the Lawson Wilkins Pediatric Endocrine Society, and the European Society for Paediatric Endocrinology Wor 2000 CDC Growth Charts for the United States: methods and development Noonan syndrome: clinical features, diagnosis, and management guidelines Hundreds of variants clustered in genomic loci and biological pathways affect human height A framework for variation discovery and genotyping using next-generation DNA sequencing data Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity. Human Gene Mutation Database: towards a comprehensive central mutation database IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation The skeletal dysplasias: clinical-molecular correlations Weighted pooling--practical and cost-effective techniques for pooled high-throughput sequencing Severe short stature caused by novel compound heterozygous mutations of the insulin-like growth factor 1 receptor (IGF1R) Epigenetic signatures of Silver-Russell syndrome. A variable degree of intrauterine and postnatal growth retardation in a family with a missense mutation in the insulin-like growth factor I receptor. Two short children born small for gestational age with insulin-like growth factor 1 receptor haploinsufficiency illustrate the heterogeneity of its phenotype Mutation at cleavage site of insulin-like growth factor receptor in a short-stature child born with intrauterine growth retardation. A familial insulin-like growth factor-I receptor mutant leads to short stature: clinical and biochemical characterization Familial short stature caused by haploinsufficiency of the insulin-like growth factor i receptor due to nonsense-mediated messenger ribonucleic acid decay IGF receptor gene variants in normal adolescents: effect on stature.
author name string	wds:Q37071236-487D49C5-25CB-4EC5-8759-530D2268436B wds:Q37071236-85C08075-9300-47EB-AAF0-68FBA790E65F wds:Q37071236-88B3E2CF-14B7-4CEE-BA27-CA24DB81E84A wds:Q37071236-8E7D9237-95CC-45ED-A1EF-4F385851455A wds:Q37071236-AC68D264-5768-448C-B884-9B8091A39151 wds:Q37071236-B4640C18-25BC-4F57-B0C7-6D8103A60369 wds:Q37071236-C28D3B46-0532-48FE-A95A-3A74C5E153EA
author name string	Andrew Dauber Heather Carmichael Jennifer E Moon Sophie R Wang Timothy C Miller Michael A Derr Shayne F Andrew
rdfs:label	Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature (en) Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature (ast) Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature. (nl)
skos:prefLabel	Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature (en) Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature (ast) Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature. (nl)
name	Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature (en) Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature (ast) Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature. (nl)
author	wds:Q37071236-1D88384A-912B-4824-A9EA-D8348D9964B0 wds:Q37071236-C98E6EB4-4D2D-4153-8FC3-AF6EC7A16CA4
author	Vivian Hwa Joel N Hirschhorn
title	wds:Q37071236-38BB965F-BFD5-403A-B959-4E016B337D17
title	Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature (en)
page(s)	wds:Q37071236-9CE7CD2D-679C-4EBA-9866-CBD802784138
page(s)	E1428-37
instance of	wds:Q37071236-B1DC8319-6956-439D-B657-EAD37D43ABA0
instance of	scholarly article

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