Genetic analysis of patients with the Saethre-Chotzen phenotype. - Wikidata - wikimedia - TriplyDB

Genetic analysis of patients with the Saethre-Chotzen phenotype.

Genetic analysis of patients with the Saethre-Chotzen phenotype.

http://www.wikidata.org/entity/Q52117348

about

HOXA5-twist interaction alters p53 homeostasis in breast cancer cells Guideline for Care of Patients With the Diagnoses of Craniosynostosis: Working Group on Craniosynostosis Long-range control of gene expression: emerging mechanisms and disruption in disease.Palate morphogenesis: current understanding and future directions.A case of Pfeiffer syndrome Roles of FGFR3 during morphogenesis of Meckel's cartilage and mandibular bones.Syndromic craniosynostosis: from history to hydrogen bonds.Genetic analysis of non-syndromic craniosynostosis.Twist1 homodimers enhance FGF responsiveness of the cranial sutures and promote suture closure Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review.Clinical findings in four Brazilian families affected by Saethre-Chotzen syndrome without TWIST mutations.Saethre-Chotzen syndrome: a case report.Saethre-Chotzen syndrome, Pro136His TWIST mutation, hearing loss, and external and middle ear structural anomalies: report on a Brazilian family.Q289P mutation in FGFR2 gene causes Saethre-Chotzen syndrome: some considerations about familial heterogeneity.Germline mutation screening of the Saethre-Chotzen-associated genes TWIST1 and FGFR3 in families with BRCA1/2-negative breast cancer.Microdeletions of 5.5 Mb (4q13.2-q13.3) and 4.1 Mb (7p15.3-p21.1) associated with a saethre-chotzen-like phenotype, severe intellectual disability, and autism Saethre-Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7 The frequency of palatal anomalies in Saethre-Chotzen syndrome Deletion involving the TWIST locus and the HOXA cluster: a contiguous gene syndrome on 7p?

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P2860

Genetic analysis of patients with the Saethre-Chotzen phenotype.

http://www.wikidata.org/entity/Q52117348

description

2002 nî lūn-bûn

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2002年の論文

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2002年学术文章

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2002年学术文章

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2002年学术文章

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2002年学术文章

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2002年学术文章

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2002年学术文章

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2002年學術文章

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2002年學術文章

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name

Genetic analysis of patients with the Saethre-Chotzen phenotype.

@en

Genetic analysis of patients with the Saethre-Chotzen phenotype.

@nl

type

label

Genetic analysis of patients with the Saethre-Chotzen phenotype.

@en

Genetic analysis of patients with the Saethre-Chotzen phenotype.

@nl

prefLabel

Genetic analysis of patients with the Saethre-Chotzen phenotype.

@en

Genetic analysis of patients with the Saethre-Chotzen phenotype.

@nl

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P1433

American Journal of Medical Genetics Part A

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Genetic analysis of patients with the Saethre-Chotzen phenotype.

@en

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Ahmad S Teebi

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

Ikuko Teshima

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Jack H Jung

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Kathy Chun

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Kazuhiko Nakabayashi

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Peter N Ray

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Rachel Laframboise

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Shelley Kennedy

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

Wendy S Meschino

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P2860

Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location

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

Mutations of the TWIST gene in the Saethre-Chotzen syndrome

Identification of a new TWIST mutation (7p21) with variable eyelid manifestations supports locus homogeneity of BPES at 3q22

A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals

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

Interstitial deletion of the short arm of chromosome 7 without craniosynostosis

Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p

Cloning of the human twist gene: its expression is retained in adult mesodermally-derived tissues

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136-143

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scholarly article

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10.1002/AJMG.10400

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2

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110

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Stephen W. Scherer

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2002-06-01T00:00:00Z

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12116251

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