(Q34410173)

2 August 2017

Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q. (English)

1 reference

2 August 2017

9

Stefan Mundlos

1 reference

2 August 2017

5

Cédric Le Caignec

0 references

Eva Klopocki

object named as

Eva Klopocki

2

0 references

author name string

Piranit N Kantaputra

1

1 reference

2 August 2017

Bianca P Hennig

3

1 reference

2 August 2017

Verayuth Praphanphoj

4

1 reference

2 August 2017

Bertrand Isidor

6

1 reference

2 August 2017

Mei L Kwee

7

1 reference

2 August 2017

Deborah J Shears

8

1 reference

2 August 2017

21 July 2010

1 reference

European Journal of Human Genetics

2 August 2017

1 reference

2 August 2017

18

1 reference

2 August 2017

12

1 reference

2 August 2017

1310-1314

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2010.116

2 August 2017

0 references

cites work

A highly annotated whole-genome sequence of a Korean individual

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002849

Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002849

The role of Hox genes during vertebrate limb development

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002849

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002849

Breakpoints around the HOXD cluster result in various limb malformations.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002849

Multiple roles of Hoxa11 and Hoxd11 in the formation of the mammalian forelimb zeugopod

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002849

Hox10 and Hox11 genes are required to globally pattern the mammalian skeleton

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002849

A global control region defines a chromosomal regulatory landscape containing the HoxD cluster

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002849

Limb malformations and the human HOX genes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002849

Ulnaless (Ul), a regulatory mutation inducing both loss-of-function and gain-of-function of posterior Hoxd genes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002849

Function of the Evx-2 gene in the morphogenesis of vertebrate limbs

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002849

A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002849

Mesomelic dysplasia, Kantaputra type: clinical report, prenatal diagnosis, no evidence for SHOX deletion/mutation.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002849

Kantaputra mesomelic dysplasia: a second reported family.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002849

Thirteen-year-follow up report on mesomelic dysplasia, Kantaputra type (MDK), and comments on the paper of the second reported family of MDK by Shears et al.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002849

A dual role for Hox genes in limb anterior-posterior asymmetry.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002849

Breakpoint analysis of a familial balanced translocation t(2;8)(q31;p21) associated with mesomelic dysplasia.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002849

A t(2;8) balanced translocation with breakpoints near the human HOXD complex causes mesomelic dysplasia and vertebral defects.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002849

Two cases with interstitial deletions of chromosome 2 and sex reversal in one.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002849

The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002849

The mouse Ulnaless mutation deregulates posterior HoxD gene expression and alters appendicular patterning.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002849

Dominant mesomelic dysplasia, ankle, carpal, and tarsal synostosis type: a new autosomal dominant bone disorder

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002849

[Phenotype anomalies in subjects with balanced chromosome translocation. Presentation of 4 cases]

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20648051

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Control of Hoxd genes' collinearity during early limb development

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20648051

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2010.116

1 reference

2 August 2017

1 reference

2 August 2017

1 reference