A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation. (Q52579802)

3 May 2018

title

A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation. (English)

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3 May 2018

Tibial aplasia-ectrodactyly syndrome

main subject

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5

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3 May 2018

Henk Giele

7

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3 May 2018

Andrew Oliver Mungo Wilkie

8

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3 May 2018

author name string

Christian Babbs

1

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3 May 2018

Raoul Heller

2

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3 May 2018

David B Everman

3

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3 May 2018

Mark Crocker

4

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3 May 2018

Charles E Schwartz

6

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3 May 2018

publication date

14 June 2007

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3 May 2018

published in

Human Genetics

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3 May 2018

volume

122

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3 May 2018

issue

2

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3 May 2018

page(s)

191-199

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3 May 2018

Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients.

cites work

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Crossref

https://api.crossref.org/works/10.1007%2FS00439-007-0390-7

Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-007-0390-7

Identification of a hot spot for microdeletions in patients with X- linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4

21 January 2018

1 reference

12 December 2020

Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development

1 reference

12 December 2020

Holoprosencephaly, hypertelorism, and ectrodactyly in a boy with an apparently balanced de novo t(2;4)(q14.2;q35)

1 reference

12 December 2020

Pathogenesis of split-hand/split-foot malformation.

1 reference

12 December 2020

Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.

1 reference

12 December 2020

Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region

1 reference

12 December 2020

Long-range control of gene expression: emerging mechanisms and disruption in disease

1 reference

12 December 2020

Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma

1 reference

12 December 2020

Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly

1 reference

12 December 2020

Control of embryonic Xenopus morphogenesis by a Ral-GDS/Xral branch of the Ras signalling pathway

1 reference

12 December 2020

Control of digit formation by activin signalling

1 reference

12 December 2020

Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1.

1 reference

12 December 2020

Mapping cis-regulatory domains in the human genome using multi-species conservation of synteny.

1 reference

12 December 2020

An epidemiological study of isolated split hand/foot in Hungary, 1975-1984.

1 reference

12 December 2020

p63 is a p53 homologue required for limb and epidermal morphogenesis

1 reference

12 December 2020

A novel member of the F-box/WD40 gene family, encoding dactylin, is disrupted in the mouse dactylaplasia mutant

1 reference

12 December 2020

On the inheritance of the split hand/split foot malformation

1 reference

12 December 2020

Cloning and sequencing of the mouse Gli2 gene: localization to the Dominant hemimelia critical region

1 reference

12 December 2020

Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function

1 reference

12 December 2020

Patterning Systems—From One End of the Limb to the Other

1 reference

12 December 2020

A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24.

1 reference

12 December 2020

Defect in the maintenance of the apical ectodermal ridge in the Dactylaplasia mouse

1 reference

12 December 2020

Patterning mechanisms controlling vertebrate limb development

1 reference

12 December 2020

Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome

1 reference

12 December 2020

p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.

1 reference

12 December 2020

p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development

1 reference

12 December 2020

A novel human gene encoding an F-box/WD40 containing protein maps in the SHFM3 critical region on 10q24

1 reference

12 December 2020

Tissue-specific expression of GTPas RalA and RalB during embryogenesis and regulation by epithelial-mesenchymal interaction

1 reference

12 December 2020

A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly

1 reference

12 December 2020

Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster

1 reference

12 December 2020

Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly

1 reference

12 December 2020

Retinoic-acid-induced limb malformations resulting from apical ectodermal ridge cell death

1 reference

12 December 2020

Bilateral absence of the tibias in three sibs

1 reference

12 December 2020

Global identification of human transcribed sequences with genome tiling arrays

1 reference

12 December 2020

A high-resolution map of active promoters in the human genome

1 reference

12 December 2020

An interstitial deletion of 6p24-p25 proximal to the FKHL7 locus and including AP-2alpha that affects anterior eye chamber development

1 reference

12 December 2020

P63 mutations are not a major cause of non-syndromic split hand/foot malformation

1 reference

12 December 2020

The dominant hemimelia mutation uncouples epithelial-mesenchymal interactions and disrupts anterior mesenchyme formation in mouse hindlimbs.

1 reference

12 December 2020

Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features

1 reference

12 December 2020

Aplasia of tibia with split-hand/split-foot deformity. Report of six families with 35 cases and considerations about variability and penetrance

1 reference

12 December 2020

10.1007/S00439-007-0390-7

Identifiers

DOI

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3 May 2018

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3 May 2018