(Q34774223)

4 August 2017

title

Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci (English)

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4 August 2017

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5

Cédric Le Caignec

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author name string

Karine Morcel

1

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4 August 2017

Tanguy Watrin

2

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4 August 2017

Laurent Pasquier

3

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4 August 2017

Lucie Rochard

4

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4 August 2017

Christèle Dubourg

6

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4 August 2017

Philippe Loget

7

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4 August 2017

Bernard-Jean Paniel

8

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4 August 2017

Sylvie Odent

9

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4 August 2017

Véronique David

10

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4 August 2017

Isabelle Pellerin

11

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4 August 2017

Claude Bendavid

12

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4 August 2017

Daniel Guerrier

13

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4 August 2017

publication date

15 March 2011

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Orphanet Journal of Rare Diseases

4 August 2017

published in

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4 August 2017

volume

6

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4 August 2017

page(s)

9

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Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia

4 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

Deletion 22q11: spectrum of associated disorders

7 July 2018

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The microRNA miR-124 antagonizes the anti-neural REST/SCP1 pathway during embryonic CNS development

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

The Fat1 cadherin integrates vascular smooth muscle cell growth and migration signals

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

Identification of chromosomal alterations important in the development of cervical intraepithelial neoplasia and invasive carcinoma using alignment of DNA microarray data

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

The Mayer-Rokitansky-Küster-Hauser syndrome (congenital absence of uterus and vagina)--phenotypic manifestations and genetic approaches

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

New insights into Fat cadherins

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

Multiplex PCR/liquid chromatography assay for detection of gene rearrangements: application to RB1 gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

Protocadherin FAT1 binds Ena/VASP proteins and is necessary for actin dynamics and cell polarization.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

The fat-like gene of Drosophila is the true orthologue of vertebrate fat cadherins and is involved in the formation of tubular organs.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

Tetralogy of Fallot, imperforate anus, and Müllerian, renal, and cervical spine (MURCS) anomalies in a 15-year-old girl

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes).

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

Expression and mutation analysis of BRUNOL3, a candidate gene for heart and thymus developmental defects associated with partial monosomy 10p

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

Interstitial deletion 4q32-34 with ulnar deficiency: 4q33 may be the critical region in 4q terminal deletion syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

Müllerian agenesis: etiology, diagnosis, and management

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

GATA3 haplo-insufficiency causes human HDR syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

A paternally inherited terminal deletion, del(8)(p23.1)pat, detected prenatally in an amniotic fluid sample: a review of deletion 8p23.1 cases

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

Child with velocardiofacial syndrome and del (4)(q34.2): another critical region associated with a velocardiofacial syndrome-like phenotype

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

Tankyrase, a poly(ADP-ribose) polymerase at human telomeres

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

Chromosome 22q11 deletion presenting as the Potter sequence

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

Terminal deletion of the long arm of chromosome 4 in a mother and two sons

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

Terminal deletion in chromosome region 8p23.1-8pter in a child with features of velo-cardio-facial syndrome.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

Chromosomal localization of the mammalian peptide-methionine sulfoxide reductase gene and its differential expression in various tissues

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

Molecular cloning and tissue expression of FAT, the human homologue of the Drosophila fat gene that is located on chromosome 4q34-q35 and encodes a putative adhesion molecule

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

Hearing loss and the Mayer-Rokitansky-Küster-Hauser syndrome.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

Absent vagina and the Klippel-Feil anomaly.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

Relationship between Mayer-Rokitansky-Küster (MRK) anomaly and hereditary renal adysplasia (HRA)

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

Cytogenetic findings in a prospective series of patients with DiGeorge anomaly

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

Interstitial deletion, del(4)(q33q35.1), in a mother and two children

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

Rokitansky sequence in association with the facio-auriculo-vertebral sequence: part of a mesodermal malformation spectrum?

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

DiGeorge anomaly associated with 10p deletion

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

Müllerian tract abnormalities and associated auditory defects.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

Distal 8p deletion (8p23.1----8pter): a common deletion?

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

Oculo-auriculo-vertebral complex and uncommon associated anomalies: report on 8 unrelated Brazilian patients

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

Spinal abnormalities and the atypical form of the Mayer-Rokitansky-Küster-Hauser syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

Congenital absence of the vagina. The Mayer-Rokitansky-Kuster-Hauser syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome.

7 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-9

Atypical deletion of 22q11.2: detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-9

Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-9

Prenatal diagnosis of deletion 17p13 associated with DiGeorge anomaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-9

Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: study of two cases and review of the literature.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-9

A region on human chromosome 4 (q35.1-->qter) induces senescence in cell hybrids and is involved in cervical carcinogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-9

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

The phenotypic spectrum of the 10p deletion syndrome versus the classical DiGeorge syndrome.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

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

26 October 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-9

Genomic imbalances associated with mullerian aplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-9

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3072926

Identification of tumor suppressor loci on the long arm of chromosome 4 in primary small cell lung cancers

26 October 2018

1 reference

12 December 2020

MURCS association with duplicated thumb

1 reference

12 December 2020

The 22q11.2 deletion syndrome

1 reference

12 December 2020

DNA copy number changes in cervical adenocarcinoma

1 reference

12 December 2020

Facio-auriculo-vertebral sequence in association with DiGeorge sequence, Rokitansky sequence, and Dandy-Walker malformation: case report

1 reference

12 December 2020

Mayer-Rokitansky-Küster-Hauser syndrome associated with pulmonary stenosis

1 reference

12 December 2020

Evaluation of radiographic abnormalities of the hand in patients with the Mayer-Rokitansky-Küster-Hauser syndrome

1 reference

12 December 2020

Vaginal atresia (von Mayer-Rokitansky-Küster or MRK anomaly) in hereditary renal adysplasia (HRA)

1 reference

12 December 2020

Concurrence of the Holt-Oram syndrome and the Rokitansky-Kuster-Hauser syndrome. A case report

1 reference

12 December 2020

Rokitansky-Küster-Hauser syndrome with ectrodactyly

1 reference

12 December 2020

GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease

1 reference

12 December 2020

Expanding the phenotype of 22q11 deletion syndrome: the MURCS association

1 reference

12 December 2020

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-6-9

1 reference

Dimensions Publication ID

4 August 2017

0 references

1 reference

4 August 2017

1 reference