Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism (Q34327305)

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English	Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism	scientific article

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scholarly article

1 reference

Europe PubMed Central

1 August 2017

Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism (English)

1 reference

Europe PubMed Central

1 August 2017

haploinsufficiency

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author name string

Anneke T van Silfhout

1

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Europe PubMed Central

1 August 2017

Peter C van den Akker

2

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Europe PubMed Central

1 August 2017

Trijnie Dijkhuizen

3

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Europe PubMed Central

1 August 2017

Joke B G M Verheij

4

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Europe PubMed Central

1 August 2017

Maran J W Olderode-Berends

5

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Europe PubMed Central

1 August 2017

Klaas Kok

6

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Europe PubMed Central

1 August 2017

Birgit Sikkema-Raddatz

7

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Europe PubMed Central

1 August 2017

Conny M A van Ravenswaaij-Arts

8

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Europe PubMed Central

1 August 2017

language of work or name

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publication date

29 April 2009

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Europe PubMed Central

1 August 2017

European Journal of Human Genetics

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Europe PubMed Central

1 August 2017

17

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Europe PubMed Central

1 August 2017

11

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Europe PubMed Central

1 August 2017

1432-1438

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Europe PubMed Central

1 August 2017

https://scigraph.springernature.com/pub.10.1038/ejhg.2009.72

0 references

Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986677

6 July 2018

Regulation of Dlx5 and Dlx6 gene expression by p63 is involved in EEC and SHFM congenital limb defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986677

6 July 2018

DLX5 and DLX6 expression is biallelic and not modulated by MeCP2 deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986677

6 July 2018

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986677

6 July 2018

A review of gene linkage, association and expression studies in autism and an assessment of convergent evidence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986677

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Wnt-dependent regulation of inner ear morphogenesis is balanced by the opposing and supporting roles of Shh.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986677

6 July 2018

Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986677

6 July 2018

Refinement of the deletion in 7q21.3 associated with split hand/foot malformation type 1 and Mondini dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986677

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986677

6 July 2018

A new imprinted cluster on the human chromosome 7q21-q31, identified by human-mouse monochromosomal hybrids

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986677

6 July 2018

Human chromosome 7: DNA sequence and biology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986677

6 July 2018

Pathogenesis of split-hand/split-foot malformation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986677

6 July 2018

The Dlx5 and Dlx6 homeobox genes are essential for craniofacial, axial, and appendicular skeletal development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986677

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986677

6 July 2018

Evidence that members of the Cut/Cux/CDP family may be involved in AER positioning and polarizing activity during chick limb development.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986677

6 July 2018

Delineation of a complex karyotypic rearrangement by microdissection and CGH in a family affected with split foot

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986677

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986677

6 July 2018

Human frizzled 1 interacts with transforming Wnts to transduce a TCF dependent transcriptional response

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986677

6 July 2018

The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986677

6 July 2018

Cloning and characterization of two cytoplasmic dynein intermediate chain genes in mouse and human

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986677

6 July 2018

SEM1, a homologue of the split hand/split foot malformation candidate gene Dss1, regulates exocytosis and pseudohyphal differentiation in yeast

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986677

6 July 2018

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986677

6 July 2018

A new member of the frizzled family from Drosophila functions as a Wingless receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986677

6 July 2018

Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986677

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986677

6 July 2018

Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986677

6 July 2018

Bilateral split hand/foot malformation and inv(7)(p22q21.3)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986677

6 July 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.72

21 January 2018

Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.72

21 January 2018

Expression analysis and mutation detection of DLX5 and DLX6 in autism.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986677

27 October 2018

Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.72

21 January 2018

The expanding panorama of split hand foot malformation

1 reference

https://pubmed.ncbi.nlm.nih.gov/19401716

12 December 2020

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10.1038/EJHG.2009.72

1 reference

Europe PubMed Central

1 August 2017

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1 reference

Europe PubMed Central

1 August 2017

1 reference

Europe PubMed Central

1 August 2017

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