(Q37422356)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19889212%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

title

Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19889212%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

1 reference

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19889212%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Cristina Gervasini

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19889212%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Massimo Carella

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19889212%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Luigi Fedele

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19889212%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Antonio Novelli

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19889212%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Monica Miozzo

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19889212%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

6

Giada Frontino

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19889212%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

author name string

Laura Bernardini

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19889212%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Stefania Gimelli

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19889212%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Anwar Baban

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19889212%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Giancarlo Barbano

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19889212%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Maria Teresa Divizia

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19889212%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Frédérique Béna

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19889212%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Faustina Lalatta

12

1 reference

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11 February 2020

publication date

4 November 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19889212%20AND%20SRC:MED&resulttype=core&format=json

Orphanet Journal of Rare Diseases

11 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19889212%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

volume

4

1 reference

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11 February 2020

page(s)

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19889212%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1186/1750-1172-4-25

11 February 2020

exact match

0 references

cites work

Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777856

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777856

Phenotypic variability of a 4q34-->qter inherited deletion: MRKH syndrome in the daughter, cardiac defect and Fallopian tube cancer in the mother.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777856

WNT4 deficiency--a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: a case report

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777856

Role of HOXA7 to HOXA13 and PBX1 genes in various forms of MRKH syndrome (congenital absence of uterus and vagina).

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777856

LIM-homeodomain genes in mammalian development and human disease.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777856

Distinct and sequential tissue-specific activities of the LIM-class homeobox gene Lim1 for tubular morphogenesis during kidney development

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777856

Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777856

Genetics of the female reproductive ducts

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777856

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777856

Chromosome 22q11 deletion presenting as the Potter sequence

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777856

The MURCS association: Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777856

Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777856

Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777856

Mutations in hepatocyte nuclear factor-1beta and their related phenotypes

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777856

Mayer-Rokitansky-Küster-Hauser anomaly and its associated malformations.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777856

Further evidence that the WT1 gene does not have a role in the development of the derivatives of the müllerian duct.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777856

Genomic imbalances associated with mullerian aplasia

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777856

Report of a del22q11 in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) anomaly and exclusion ofWNT-4,RAR-gamma, andRXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women

3 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777856

Hepatocyte nuclear factor-1beta: a new kindred with renal cysts and diabetes and gene expression in normal human development

3 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19889212

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Autosomal translocation of chromosomes 12q & 14q in mullerian duct failure

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19889212

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1750-1172-4-25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19889212%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

11 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19889212%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

PubMed publication ID

19889212

1 reference