Distal limb malformations: underlying mechanisms and clinical associations (Q34397705)

1 August 2017

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title

Distal limb malformations: underlying mechanisms and clinical associations (English)

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1 August 2017

Sifakis S

1

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1 August 2017

Basel D

2

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1 August 2017

Ianakiev P

3

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1 August 2017

Kilpatrick M

4

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1 August 2017

Tsipouras P

5

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1 August 2017

1 September 2001

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1 August 2017

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1 August 2017

60

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1 August 2017

3

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1 August 2017

165-172

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Genetics of limb anomalies in humans

1 August 2017

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

Vertebrate limb development

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

A positive feedback loop coordinates growth and patterning in the vertebrate limb.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

Interaction between the signaling molecules WNT7a and SHH during vertebrate limb development: dorsal signals regulate anteroposterior patterning.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

Sonic hedgehog: a key mediator of anterior-posterior patterning of the limb and dorso-ventral patterning of axial embryonic structures

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

Roles for FGF8 in the induction, initiation, and maintenance of chick limb development

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

The proximo-distal sequence of origin of the parts of the chick wing and the role of the ectoderm.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

Molecular models for vertebrate limb development

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

Dorsalizing signal Wnt-7a required for normal polarity of D-V and A-P axes of mouse limb

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

FGF-4 replaces the apical ectodermal ridge and directs outgrowth and patterning of the limb

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

FGF-2: apical ectodermal ridge growth signal for chick limb development

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

Developmental control of three-dimensional polarity in the avian limb

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

Position-dependent expression of two related homeobox genes in developing vertebrate limbs

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

The mouse Engrailed-1 gene and ventral limb patterning

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

Induction of the LIM homeobox gene Lmx1 by WNT6a establishes dorsoventral pattern in the vertebrate limb

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

Sonic hedgehog mediates the polarizing activity of the ZPA

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

Cloning, expression, and chromosomal location of SHH and IHH: two human homologues of the Drosophila segment polarity gene hedgehog

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

Genetics of limb development and congenital hand malformations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

A chick wingless mutation causes abnormality in maintenance of Fgf8 expression in the wing apical ridge, resulting in loss of the dorsoventral boundary.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

Some distal limb structures develop in mice lacking Sonic hedgehog signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

Targeted misexpression of constitutively active BMP receptor-IB causes bifurcation, duplication, and posterior transformation of digit in mouse limb.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

Mapping the mouse dactylaplasia mutation, Dac, and a gene that controls its expression, mdac

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

A second autosomal split hand/split foot locus maps to chromosome 10q24-q25.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: evidence for anticipation and segregation distortion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

cDNA cloning and expression analysis of new members of the mammalian F-box protein family

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

p63, a p53 homolog at 3q27-29, encodes multiple products with transactivating, death-inducing, and dominant-negative activities

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

p63 is a p53 homologue required for limb and epidermal morphogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

A new human p53 homologue

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

Cloning and functional analysis of human p51, which structurally and functionally resembles p53

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

The apical ectodermal ridge regulates Hox-7 and Hox-8 gene expression in developing chick limb buds.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

Heterozygous germline missense mutation in the p63 gene underlying EEC syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

Congenital abnormalities associated with limb deficiency defects: a population study based on cases from the Hungarian Congenital Malformation Registry (1975-1984).

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

Twenty-four cases of the EEC syndrome: clinical presentation and management

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

EEC syndrome: report on 20 new patients, clinical and genetic considerations

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

Sonic hedgehog and Fgf-4 act through a signaling cascade and feedback loop to integrate growth and patterning of the developing limb bud

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

Constructive antagonism in limb development

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

7 January 2021

Dactylaplasia in mice a two-locus model for development anomalies

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

7 January 2021

Ectoderm-mesenchyme and mesenchyme-mesenchyme interactions regulate Msx-1 expression and cellular differentiation in the murine limb bud

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

7 January 2021

Mapping of the gene for X-chromosomal split-hand/split-foot anomaly to Xq26-q26.1.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

7 January 2021

EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) is on 7p11.2-q21.3

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600301.X

7 January 2021

10.1034/J.1399-0004.2001.600301.X

Identifiers

DOI

1 reference

1 August 2017

1 reference