(Q51979228)

19 April 2018

title

Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome. (English)

1 reference

19 April 2018

main subject

primary amenorrhea

0 references

author

Donna M McDonald-McGinn

2

object named as

Donna M McDonald-McGinn

1 reference

19 April 2018

author name string

Usha T Sundaram

1

1 reference

19 April 2018

Dale Huff

3

1 reference

19 April 2018

Beverly S Emanuel

4

1 reference

19 April 2018

Elaine H Zackai

5

1 reference

19 April 2018

Deborah A Driscoll

6

1 reference

19 April 2018

Joann Bodurtha

7

1 reference

19 April 2018

language of work or name

English

0 references

publication date

1 September 2007

1 reference

19 April 2018

American Journal of Medical Genetics

published in

1 reference

19 April 2018

volume

143A

1 reference

19 April 2018

issue

17

1 reference

19 April 2018

page(s)

2016-2018

1 reference

19 April 2018

Sex determination and differentiation

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810967

Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810967

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810967

A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810967

The 22q11.2 deletion syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810967

A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810967

The Philadelphia story: the 22q11.2 deletion: report on 250 patients

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810967

Chromosome 22q11 deletion presenting as the Potter sequence

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810967

Prevalence of 22q11 microdeletion

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810967

22 May 2018

Vaginal malformations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17676598

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Genitourinary malformations in chromosome 22q11.2 deletion

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17676598

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/AJMG.A.31736

1 reference

19 April 2018

PMC publication ID

2810967

1 reference

19 April 2018

PubMed publication ID

17676598

1 reference

19 April 2018