Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery. - Wikidata - wikimedia - TriplyDB

Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery.

Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery.

http://www.wikidata.org/entity/Q41965446

about

Mutations in the homeodomain of HOXD13 cause syndactyly type 1-c in two Chinese families Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report.Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.New insights into genotype-phenotype correlation for GLI3 mutations.Sporadic familial ulnar hexadactyly of all four limbs A transgenic, mesodermal specific, Dkk1 mouse model recapitulates a spectrum of human congenital limb reduction defects.A novel missense mutation in the TBX5 gene in a Saudi infant with Holt-Oram syndrome.Transient Inhibition of FGFR2b-ligands signaling leads to irreversible loss of cellular β-catenin organization and signaling in AER during mouse limb development Etiology of esophageal atresia and tracheoesophageal fistula: "mind the gap".The molecular basis of human congenital limb malformations.The two domain hypothesis of limb prepattern and its relevance to congenital limb anomalies.Defective Hand1 phosphoregulation uncovers essential roles for Hand1 in limb morphogenesis.Preaxial polydactyly of the foot.Intrafamilial variability of ZRS-associated syndrome: characterization of a mosaic ZRS mutation by pyrosequencing.Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly

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Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery.

http://www.wikidata.org/entity/Q41965446

description

2009 nî lūn-bûn

@nan

2009年の論文

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2009年論文

@yue

2009年論文

@zh-hant

2009年論文

@zh-hk

2009年論文

@zh-mo

2009年論文

@zh-tw

2009年论文

@wuu

2009年论文

@zh

2009年论文

@zh-cn

name

Genetic screening of 202 indiv ...... uiring reconstructive surgery.

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type

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Genetic screening of 202 indiv ...... uiring reconstructive surgery.

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Genetic screening of 202 indiv ...... uiring reconstructive surgery.

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JMG.2009.066027

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Journal of Medical Genetics

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Genetic screening of 202 indiv ...... quiring reconstructive surgery

@en

P2093

D Furniss

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D Johnson

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I B Taylor

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P S Critchley

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S-H Kan

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P2860

Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects

Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome

Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

Altered Twist1 and Hand2 dimerization is associated with Saethre-Chotzen syndrome and limb abnormalities

Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy

A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly

The vertebrate spalt genes in development and disease

A twist code determines the onset of osteoblast differentiation

Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E.

P304

730-735

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scholarly article

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10.1136/JMG.2009.066027

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11

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46

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Andrew Oliver Mungo Wilkie

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2009-05-07T00:00:00Z

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24415262

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19429598

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2764122

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