A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1. - Wikidata - awgldk - TriplyDB

A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1.

A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1.

http://www.wikidata.org/entity/Q34387671

about

The histone deacetylase 9 gene encodes multiple protein isoforms Mutations in a new member of the chromodomain gene family cause CHARGE syndrome Altered Twist1 and Hand2 dimerization is associated with Saethre-Chotzen syndrome and limb abnormalities Physiological Changes and Clinical Implications of Syndromic Craniosynostosis A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals Another TWIST on Baller-Gerold syndrome Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis Craniosynostosis in Twist heterozygous mice: a model for Saethre-Chotzen syndrome Guideline for Care of Patients With the Diagnoses of Craniosynostosis: Working Group on Craniosynostosis A newly described bovine type 2 scurs syndrome segregates with a frame-shift mutation in TWIST1 Destabilization of the TWIST1/E12 complex dimerization following the R154P point-mutation of TWIST1: an in silico approach.Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans Mutations in the human TWIST gene.Trisomy 7p resulting from 7p15;9p24 translocation: report of a new case and review of associated medical complications.Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses.Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS.Neuroprotection by histone deacetylase-related protein.Mechanisms of haploinsufficiency revealed by genome-wide profiling in yeast Mutations in snail family genes enhance craniosynostosis of Twist1 haplo-insufficient mice: implications for Saethre-Chotzen Syndrome Actual concepts in scaphocephaly : (an experience of 98 cases).Candidate Gene Analyses of Skeletal Variation in Malocclusion.Identification of disease genes by whole genome CGH arrays.Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.Syndromic craniosynostosis: from history to hydrogen bonds.Understanding craniosynostosis as a growth disorder Deciphering the molecular mechanisms underlying the binding of the TWIST1/E12 complex to regulatory E-box sequences.Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review.Genetics of craniosynostosis: review of the literature.Rapid and inexpensive screening of genomic copy number variations using a novel quantitative fluorescent PCR method.A twist of insight - the role of Twist-family bHLH factors in development.Genetic basis of single-suture synostoses: genes, chromosomes and clinical implications.Severe Developmental Delay in a Patient with 7p21.1-p14.3 Microdeletion Spanning the TWIST Gene and the HOXA Gene Cluster.A novel multidisciplinary approach toward a better understanding of cranial suture closure: the first evidence of genetic effects in adulthood.Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis.A Drosophila model to study the functions of TWIST orthologs in apoptosis and proliferation.Contiguous gene deletion neighboring TWIST1 identified in a patient with Saethre-Chotzen syndrome associated with neurodevelopmental delay: Possible contribution of HDAC9.Saethre-Chotzen syndrome, Pro136His TWIST mutation, hearing loss, and external and middle ear structural anomalies: report on a Brazilian family.Y-craniosynostosis by premature fusion of the metopic and coronal sutures: a new nosological entity or a variety of Saethre-Chotzen syndrome?Genetic analysis of patients with the Saethre-Chotzen phenotype.

P2860

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P2860

A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1.

http://www.wikidata.org/entity/Q34387671

description

1998 nî lūn-bûn

@nan

1998 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

1998 թվականի նոյեմբերին հրատարակված գիտական հոդված

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1998年の論文

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1998年論文

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1998年論文

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1998年論文

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1998年論文

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1998年論文

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1998年论文

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name

A comprehensive screen for TWI ...... ome of chromosome band 7p21.1.

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A comprehensive screen for TWI ...... ome of chromosome band 7p21.1.

@en

A comprehensive screen for TWI ...... ome of chromosome band 7p21.1.

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type

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A comprehensive screen for TWI ...... ome of chromosome band 7p21.1.

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A comprehensive screen for TWI ...... ome of chromosome band 7p21.1.

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A comprehensive screen for TWI ...... ome of chromosome band 7p21.1.

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prefLabel

A comprehensive screen for TWI ...... ome of chromosome band 7p21.1.

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A comprehensive screen for TWI ...... ome of chromosome band 7p21.1.

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A comprehensive screen for TWI ...... ome of chromosome band 7p21.1.

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P1433

American Journal of Human Genetics

P1476

A comprehensive screen for TWI ...... ome of chromosome band 7p21.1.

@en

P2093

D Johnson

http://www.w3.org/2001/XMLSchema#string

D M Moloney

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G J Ashworth

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J Kunz

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L Kearney

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M Barrow

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M Oldridge

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S A Wall

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S W Horsley

http://www.w3.org/2001/XMLSchema#string

S Walsh

http://www.w3.org/2001/XMLSchema#string

P2860

Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome

Mutations of the TWIST gene in the Saethre-Chotzen syndrome

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p

Genomic sequencing

A comprehensive genetic map of the human genome based on 5,264 microsatellites

Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of chromosome 7 using four cases with apparently balanced translocations at 7p21.2

Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome

The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases

The human H-twist gene is located at 7p21 and encodes a B-HLH protein that is 96% similar to its murine M-twist counterpart

P304

1282-1293

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scholarly article

P356

10.1086/302122

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P407

P433

5

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P478

63

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P50

Andrew Oliver Mungo Wilkie

Pål R Njølstad

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1998-11-01T00:00:00Z

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13493275

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9792856

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craniosynostosis

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1377539

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