(Q33816008)

29 July 2017

1 reference

title

An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14. (English)

1 reference

29 July 2017

1 reference

1 reference

1 reference

1 reference

5

1 reference

29 July 2017

König R

2

1 reference

29 July 2017

Hasegawa T

series ordinal

3

1 reference

29 July 2017

Van Esch H

series ordinal

4

1 reference

29 July 2017

Schuffenhauer S

series ordinal

6

1 reference

29 July 2017

language of work or name

English

0 references

publication date

1 January 2000

1 reference

Journal of Medical Genetics

29 July 2017

1 reference

29 July 2017

37

1 reference

29 July 2017

1

1 reference

29 July 2017

33-37

1 reference

Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2).

29 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734454

MRI findings in a patient with partial monosomy 10p.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734454

Interstitial deletion of the short arm of chromosome 10: report of a case and review of the literature

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734454

Velo-cardio-facial and partial DiGeorge phenotype in a child with interstitial deletion at 10p13--implications for cytogenetics and molecular biology.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734454

DiGeorge syndrome and partial monosomy 10p: case report and review

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734454

Family with partial monosomy 10p and trisomy 10p.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734454

Partial deletion 10p syndrome. Report of two patients.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734454

Partial DiGeorge syndrome in two patients with a 10p rearrangement.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734454

Characterization of 10p deletions suggests two nonoverlapping regions contribute to the DiGeorge syndrome phenotype

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734454

HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13).

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734454

A common region of 10p deleted in DiGeorge and velocardiofacial syndromes

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734454

Autosomal Dominant Familial Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734454

Distal 10p deletion syndrome

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10633131

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

DiGeorge anomaly and chromosome 10p deletions: one or two loci?

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10633131

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.37.1.33

1 reference

release_vstbvtnspbh6tdpln2a57ltit4

29 July 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/vstbvtnspbh6tdpln2a57ltit4

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMCID

1734454

1 reference

29 July 2017

1 reference