About: 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

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About: 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 Goto Sponge NotDistinct Permalink

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rdf:type	Item
description	article (en) wetenschappelijk artikel (nl) наукова стаття, опублікована у 2006 (uk) article scientifique publié en 2006 (fr) im Juni 2006 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q57235011-94DDA636-A22E-4244-858D-5D0D80A82988
publication date	2006-06-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q57235011-D1846FFD-E840-43F5-99B3-1443B6E3203A
language of work or name	English
author name string	wds:Q57235011-47305BE0-BB74-4594-AFC3-8C6387FFC623 wds:Q57235011-54E3E60C-2EF1-48D6-9162-D13494B2E99C wds:Q57235011-8E289BD2-30EA-4BB2-B699-58A11C275A54 wds:Q57235011-DD4299A2-B9C9-4B31-8DC5-199B7EBE9328
author name string	Fernanda Sarquis Jehee Carola Cheroki Ivo Pavanello Filho Vicente R Bagnoli
rdfs:label	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 (en) 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 (nl)
skos:prefLabel	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 (en) 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 (nl)
name	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 (en) 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 (nl)
author	wds:Q57235011-5A20240E-459F-42EE-84C7-63800F18DD9D wds:Q57235011-7F617C3E-D359-4F49-9D8D-F5CA7212F3A7 wds:Q57235011-7F91E8D1-1212-48D0-B8C7-DE5C7E04BDEB wds:Q57235011-9122B157-125A-4F85-8AB8-6576F59BDB79 wds:Q57235011-92C2DF8F-E383-42FA-BA08-360CBAB16189 wds:Q57235011-9BBFD576-A389-4F2A-8BFF-966A9AEFD864 wds:Q57235011-C7A9EE9F-C57A-49BD-AC86-C98C40E4F113 wds:Q57235011-D05D389A-9228-43DB-B451-05C0E7E48E88
author	Chong Ae Kim Carla Rosenberg Berenice Bilharinho Mendonca Regina Celia Mingroni Netto Ana Cristina Krepischi Karoly Szuhai Paulo A Otto Sebastião Marques Zanforlin Filho
title	wds:Q57235011-BA61E7A0-5169-42F3-BDCD-292EBF404898
title	Report of a del22q11 in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) anomaly and exclusion of WNT-4, RAR-gamma, and RXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women (en)
page(s)	wds:Q57235011-1F99558F-8EA8-45EA-B971-9C44EDB10DDC
page(s)	1339-1342
instance of	wds:Q57235011-DBA10B3E-9F1C-49AE-8B0D-1FDAFC818130
instance of	scholarly article
main subject	wds:Q57235011-71153C9A-2401-434A-B48E-1F99A2C23892 wds:Q57235011-BEAE3BC1-5D6D-4CC5-93D8-DD6BB9CADAD8
main subject	Müllerian agenesis Patients
PubMed ID	wds:Q57235011-8BBFF55E-A401-48FA-BEF6-E68DD97E1D71
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/16691591
PubMed ID	16691591
published in	wds:Q57235011-D15A05EE-966A-4DCD-AAB4-FBF0CE3C03FC
published in	American Journal of Medical Genetics
issue	wds:Q57235011-CE3EE2C1-408D-41DC-8B2A-FF74DC1E8AF1
volume	wds:Q57235011-ED3B8310-9067-46C8-92FC-20C3BF56B978
issue	12
volume	140
DOI	wds:Q57235011-458590EA-8A2F-4C7B-95FB-5F6FC7B4E378
DOI	http://dx.doi.org/10.1002/AJMG.A.31254
DOI	10.1002/AJMG.A.31254
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q57235011
is cites work of	TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia Evaluation of SHOX copy number variations in patients with Müllerian aplasia Molecular analysis of the beta-catenin gene in patients with the Mayer-Rokitansky-Küster-Hauser syndrome. Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome. In utero phthalate effects in the female rat: a model for MRKH syndrome Phenotypic variability of distal 22q11.2 copy number abnormalities A combination of transcriptome and methylation analyses reveals embryologically-relevant candidate genes in MRKH patients Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Are children with congenital solitary kidney at risk for lifelong complications? A lack of prediction demands caution. Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci Clinical utility gene card for: Mayer-Rokitansky-Küster-Hauser syndrome Clinical and genetic aspects of Mayer-Rokitansky-Küster-Hauser syndrome. Etiologies of uterine malformations. Mullerian dysgenesis: a critical review of the literature Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia. Candidate gene analysis in a case of congenital absence of the endometrium Copy Number Variations in Female Infertility in China
is cites work of	wds:Q21202853-41F0ABB6-B4BE-4652-A995-BA47D8D73D90 wds:Q52661767-97F379A3-2BA7-41AF-AFBA-188098EB1AB0 wds:Q35679731-69A834C9-E5B6-4768-99C6-F4304FDCDB99 wds:Q35068075-27321CFF-839F-48B2-80E4-20750C8C836E wds:Q35173572-077FA825-3C66-4B73-9300-D142E767E22D wds:Q37238996-ECA77A17-2B82-4C4E-AABF-DB85A63678B9 wds:Q38975135-8A65E84F-D869-4647-B0B5-504C2B6D351B wds:Q39256834-AB4662B4-8337-446C-8D66-AED7B2248513 wds:Q51541942-FFD03B86-CB1F-4A81-AD63-2779E6B730FA wds:Q21203017-554539A3-6563-401C-87AA-4B06086B8A7F wds:Q33655040-5BECD00A-9C8E-4F41-8DD2-C0A198B73679 wds:Q34774223-97BCB1E0-E33D-4295-B90A-33F301888111 wds:Q37677172-580FF503-B9ED-4ACD-8C41-D5E82C2E9CA2 wds:Q37422356-EF82BED3-E22E-41DE-AAF1-D4BFE9D8C5CC wds:Q53087377-FA20ABCA-E971-4271-8697-D18FA6DCDBD3 wds:Q56232663-2B5B6CA4-0BCA-4C7D-84D9-3B8E66C66205 wds:Q36995787-2DEC00AE-6DD6-41BD-B6F5-DFD2181454C4 wds:Q49542526-3F2ECF35-9B92-40AE-A72A-BC249E51D582

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