(Q35878239)

10 August 2017

High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia (English)

1 reference

10 August 2017

11

Andreas R Janecke

1 reference

10 August 2017

Tomas Fitzgerald

7

0 references

Stefan P Renner

object named as

Stefan P Renner

12

0 references

Serena Nik-Zainal

1

object named as

Serena Nik-Zainal

1 reference

10 August 2017

18

Matthias W Beckmann

1 reference

10 August 2017

16

Sara Brucker

1 reference

10 August 2017

Reiner Strick

2

1 reference

10 August 2017

Mekayla Storer

3

1 reference

10 August 2017

Ni Huang

4

1 reference

10 August 2017

Roland Rad

5

1 reference

10 August 2017

Lionel Willatt

6

1 reference

10 August 2017

Vicki Martin

8

1 reference

10 August 2017

Richard Sandford

9

1 reference

10 August 2017

Nigel P Carter

10

1 reference

10 August 2017

Patricia G Oppelt

13

1 reference

10 August 2017

Peter Oppelt

14

1 reference

10 August 2017

Christine Schulze

15

1 reference

10 August 2017

Matthew Hurles

17

1 reference

10 August 2017

Pamela L Strissel

19

1 reference

10 August 2017

Charles Shaw-Smith

20

1 reference

10 August 2017

language of work or name

English

0 references

publication date

28 January 2011

1 reference

Journal of Medical Genetics

10 August 2017

1 reference

10 August 2017

48

1 reference

10 August 2017

3

1 reference

10 August 2017

197-204

1 reference

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322361

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322361

Large, rare chromosomal deletions associated with severe early-onset obesity

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322361

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322361

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322361

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322361

Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322361

Duplication hotspots, rare genomic disorders, and common disease

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322361

Segmental duplications mediate novel, clinically relevant chromosome rearrangements

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322361

Association between microdeletion and microduplication at 16p11.2 and autism

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322361

22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322361

Recurrent 16p11.2 microdeletions in autism

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322361

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322361

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322361

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322361

Clinical aspects of Mayer-Rokitansky-Kuester-Hauser syndrome: recommendations for clinical diagnosis and staging

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322361

A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46,XX woman

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322361

Requirement of Lim1 for female reproductive tract development

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322361

Müllerian agenesis: etiology, diagnosis, and management

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322361

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322361

Reproductive impact of congenital Müllerian anomalies

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322361

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322361

Chromosome 22q11 deletion presenting as the Potter sequence

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322361

Mayer-Rokitansky-Küster-Hauser syndrome: distinction between two forms based on excretory urographic, sonographic, and laparoscopic findings.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322361

Increased neutrophil respiratory burst in bcr-null mutants

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322361

Aplasia of the Müllerian system: evidence for probable sex-limited autosomal dominant inheritance

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322361

Müllerian Anomalies: A Proposed Classification (An Analysis of 144 Cases)

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322361

A familial 593-kb microdeletion of 16p11.2 associated with mental retardation and hemivertebrae.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322361

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322361

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322361

Female genital malformations and their associated abnormalities.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322361

CD25+/Foxp3+ T cells regulate gastric inflammation and Helicobacter pylori colonization in vivo.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322361

Uterine anomalies. How common are they, and what is their distribution among subtypes?

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322361

Genomic imbalances associated with mullerian aplasia

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322361

Hypertolerance to morphine in G(z alpha)-deficient mice

14 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21278390

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Familial müllerian agenesis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21278390

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Defective somite patterning in mouse embryos with reduced levels of Tbx6

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21278390

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.2010.082412

1 reference

10 August 2017

1 reference

10 August 2017

PubMed publication ID

21278390

1 reference