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A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly
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title
A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly
(English)
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main subject
synpolydactyly
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inferred from title
author
Peter J Scambler
object named as
Peter J Scambler
series ordinal
4
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author name string
Frances R Goodman
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1
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Frank Majewski
series ordinal
2
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Amanda L Collins
series ordinal
3
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language of work or name
English
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publication date
February 2002
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published in
American Journal of Human Genetics
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volume
70
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page(s)
547-55
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issue
2
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cites work
Initial sequencing and analysis of the human genome
1 reference
stated in
PubMed Central
reference URL
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7 April 2017
Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro
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reference URL
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retrieved
7 April 2017
Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384929
retrieved
7 April 2017
Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384929
retrieved
7 April 2017
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384929
retrieved
7 April 2017
Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13
1 reference
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PubMed Central
reference URL
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7 April 2017
Cloning and characterization of two members of the vertebrate Dlx gene family
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PubMed Central
reference URL
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7 April 2017
The Sequence of the Human Genome
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PubMed Central
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7 April 2017
A comprehensive genetic map of the human genome based on 5,264 microsatellites
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7 April 2017
Human HOX gene mutations
1 reference
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PubMed Central
reference URL
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7 April 2017
Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31-->q32.1
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PubMed Central
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7 April 2017
Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384929
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7 April 2017
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
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384929
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7 April 2017
The mouse Hoxd13(spdh) mutation, a polyalanine expansion similar to human type II synpolydactyly (SPD), disrupts the function but not the expression of other Hoxd genes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384929
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7 April 2017
Role of the Dlx homeobox genes in proximodistal patterning of the branchial arches: mutations of Dlx-1, Dlx-2, and Dlx-1 and -2 alter morphogenesis of proximal skeletal and soft tissue structures derived from the first and second arches
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384929
retrieved
7 April 2017
Synpolydactyly in mice with a targeted deficiency in the HoxD complex
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384929
retrieved
7 April 2017
Hox genes in vertebrate development
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384929
retrieved
7 April 2017
Interstitial deletion of the long arm of chromosome 2: a clinically recognizable microdeletion syndrome?
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384929
retrieved
27 September 2017
Hox genes in digit development and evolution
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384929
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27 September 2017
Hox gene expression in limbs: colinearity by opposite regulatory controls.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384929
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27 September 2017
Unequal homologous recombination between LINE-1 elements as a mutational mechanism in human genetic disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384929
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27 September 2017
A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384929
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27 September 2017
Dinucleotide repeat polymorphism in the HOX4E locus
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384929
retrieved
27 September 2017
Deletion of chromosome 2q24-q31 causes characteristic digital anomalies: case report and review
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384929
retrieved
27 September 2017
Five children with del (2)(q31q33) and one individual with dup (2)(q31q33) from a single family: review of brain, cardiac, and limb malformations
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384929
retrieved
27 September 2017
A LINE element is present at the site of a 300-kb deletion starting in intron 10 of the PAX6 gene in a case of familial aniridia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384929
retrieved
30 May 2018
Gene transpositions in the HoxD complex reveal a hierarchy of regulatory controls.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384929
retrieved
30 May 2018
Order of six loci at 2q24-q31 and orientation of the HOXD locus.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384929
retrieved
30 May 2018
Interstitial deletion of the long arm of chromosome 2 in a malformed infant with karyotype 46,XX,del(2)(q31q33).
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384929
retrieved
30 May 2018
Two cases with interstitial deletions of chromosome 2 and sex reversal in one.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384929
retrieved
28 November 2018
Haploinsufficiency of the HOXA gene cluster, in a patient with hand-foot-genital syndrome, velopharyngeal insufficiency, and persistent patent Ductus botalli
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384929
retrieved
28 November 2018
Breaking colinearity in the mouse HoxD complex.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384929
retrieved
28 November 2018
Genetic interactions of Hox genes in limb development: learning from compound mutants.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384929
retrieved
28 November 2018
Interstitial deletion of 2q associated with craniosynostosis, ocular coloboma, and limb abnormalities: cytogenetic and molecular investigation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384929
retrieved
28 November 2018
Identifiers
DOI
10.1086/338921
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release_kwdobbu3ebazhoezx5wzrped6i
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https://api.fatcat.wiki/v0/release/kwdobbu3ebazhoezx5wzrped6i
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24 November 2022
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PMCID
384929
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PubMed ID
11778160
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ResearchGate publication ID
11580180
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