(Q51905478)

English

Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region.

scientific article published in July 2010

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

17 April 2018

http://europepmc.org/abstract/PMC/2909110

Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region. (English)

1 reference

Europe PubMed Central

PMC publication ID

17 April 2018

http://europepmc.org/abstract/PMC/2909110

terminal osseous dysplasia with pigmentary defects

0 references

Nicola Brunetti-Pierri

1

1 reference

Europe PubMed Central

PMC publication ID

17 April 2018

http://europepmc.org/abstract/PMC/2909110

3

1 reference

Europe PubMed Central

PMC publication ID

17 April 2018

http://europepmc.org/abstract/PMC/2909110

Pasquale Piccolo

5

1 reference

Europe PubMed Central

PMC publication ID

17 April 2018

http://europepmc.org/abstract/PMC/2909110

Ralph S. Lachman

2

object named as

Ralph Lachman

1 reference

Europe PubMed Central

PMC publication ID

17 April 2018

http://europepmc.org/abstract/PMC/2909110

Suzanne M. Leal

4

object named as

Suzanne M Leal

1 reference

Europe PubMed Central

PMC publication ID

17 April 2018

http://europepmc.org/abstract/PMC/2909110

author name string

Ignatia B Van Den Veyver

6

1 reference

Europe PubMed Central

PMC publication ID

17 April 2018

http://europepmc.org/abstract/PMC/2909110

Carlos A Bacino

7

1 reference

Europe PubMed Central

PMC publication ID

17 April 2018

http://europepmc.org/abstract/PMC/2909110

language of work or name

0 references

publication date

1 July 2010

1 reference

Europe PubMed Central

PMC publication ID

17 April 2018

http://europepmc.org/abstract/PMC/2909110

American Journal of Medical Genetics

1 reference

Europe PubMed Central

PMC publication ID

17 April 2018

http://europepmc.org/abstract/PMC/2909110

152A

1 reference

Europe PubMed Central

PMC publication ID

17 April 2018

http://europepmc.org/abstract/PMC/2909110

7

1 reference

Europe PubMed Central

PMC publication ID

17 April 2018

http://europepmc.org/abstract/PMC/2909110

1825-1831

1 reference

Europe PubMed Central

PMC publication ID

17 April 2018

http://europepmc.org/abstract/PMC/2909110

Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909110

22 May 2018

GDF5 is a second locus for multiple-synostosis syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909110

22 May 2018

Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909110

22 May 2018

Noninclusion-body infantile digital fibromatosis: a lesion heralding terminal osseous dysplasia and pigmentary defects syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909110

22 May 2018

Structural basis of BMP signalling inhibition by the cystine knot protein Noggin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909110

22 May 2018

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909110

22 May 2018

Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909110

22 May 2018

Recurrent digital fibroma, focal dermal hypoplasia, and limb malformations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909110

22 May 2018

Allegro, a new computer program for multipoint linkage analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909110

22 May 2018

Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909110

22 May 2018

A syndrome of digital fibromas, facial pigmentary dysplasia, and metacarpal and metatarsal disorganization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909110

22 May 2018

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909110

22 May 2018

Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909110

22 May 2018

Terminal osseous dysplasia and pigmentary defects in a Brazilian girl.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909110

13 August 2018

Frontometaphyseal dysplasia: Mutations inFLNA and phenotypic diversity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909110

13 August 2018

Terminal osseous dysplasia with pigmentary defects: Clinical description of a new family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909110

30 November 2018

Torg Syndrome Is Caused by Inactivating Mutations in MMP2 and Is Allelic to NAO and Winchester Syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909110

30 November 2018

Nosology and classification of genetic skeletal disorders: 2006 revision

1 reference

https://pubmed.ncbi.nlm.nih.gov/20583181

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/AJMG.A.33470

1 reference

Europe PubMed Central

PMC publication ID

17 April 2018

http://europepmc.org/abstract/PMC/2909110

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

17 April 2018

http://europepmc.org/abstract/PMC/2909110

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

17 April 2018

http://europepmc.org/abstract/PMC/2909110

ResearchGate publication ID

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