Literature DB >> 16691591

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.

Carola Cheroki1, Ana Cristina Krepischi-Santos, Carla Rosenberg, Fernanda Sarquis Jehee, Regina Célia Mingroni-Netto, Ivo Pavanello Filho, Sebastião Zanforlin Filho, Chong Ae Kim, Vicente R Bagnoli, Berenice B Mendonça, Karoly Szuhai, Paulo A Otto.   

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Year:  2006        PMID： 16691591     DOI： 10.1002/ajmg.a.31254

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  18 in total

Review 1.  Are children with congenital solitary kidney at risk for lifelong complications? A lack of prediction demands caution.

Authors:  Marco Zaffanello; Milena Brugnara; Michele Zuffante; Massimo Franchini; Vassilios Fanos
Journal:  Int Urol Nephrol       Date:  2008-08-09       Impact factor: 2.370

2.  Clinical utility gene card for: Mayer-Rokitansky-Küster-Hauser syndrome.

Authors:  Karine Morcel; Bruno Dallapiccola; Laurent Pasquier; Tanguy Watrin; Laura Bernardini; Daniel Guerrier
Journal:  Eur J Hum Genet       Date:  2011-09-07       Impact factor: 4.246

3.  Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome.

Authors:  Na Chen; Sen Zhao; Angad Jolly; Lianlei Wang; Hongxin Pan; Jian Yuan; Shaoke Chen; André Koch; Congcong Ma; Weijie Tian; Ziqi Jia; Jia Kang; Lina Zhao; Chenglu Qin; Xin Fan; Katharina Rall; Zeynep Coban-Akdemir; Zefu Chen; Shalini Jhangiani; Ze Liang; Yuchen Niu; Xiaoxin Li; Zihui Yan; Yong Wu; Shuangshuang Dong; Chengcheng Song; Guixing Qiu; Shuyang Zhang; Pengfei Liu; Jennifer E Posey; Feng Zhang; Guangnan Luo; Zhihong Wu; Jianzhong Su; Jianguo Zhang; Eugenia Y Chen; Konstantinos Rouskas; Stavros Glentis; Flora Bacopoulou; Efthymios Deligeoroglou; George Chrousos; Stanislas Lyonnet; Michel Polak; Carla Rosenberg; Irene Dingeldein; Ximena Bonilla; Christelle Borel; Richard A Gibbs; Jennifer E Dietrich; Antigone S Dimas; Stylianos E Antonarakis; Sara Y Brucker; James R Lupski; Nan Wu; Lan Zhu
Journal:  Am J Hum Genet       Date:  2021-02-04       Impact factor: 11.025

4.  Molecular analysis of the beta-catenin gene in patients with the Mayer-Rokitansky-Küster-Hauser syndrome.

Authors:  Juliana B Drummond; Camila F Rezende; Fabio C Peixoto; Joana S Carvalho; Fernando M Reis; Luiz De Marco
Journal:  J Assist Reprod Genet       Date:  2008-11-01       Impact factor: 3.412

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

Authors:  Karine Morcel; Tanguy Watrin; Laurent Pasquier; Lucie Rochard; Cédric Le Caignec; Christèle Dubourg; Philippe Loget; Bernard-Jean Paniel; Sylvie Odent; Véronique David; Isabelle Pellerin; Claude Bendavid; Daniel Guerrier
Journal:  Orphanet J Rare Dis       Date:  2011-03-15       Impact factor: 4.123

6.  A combination of transcriptome and methylation analyses reveals embryologically-relevant candidate genes in MRKH patients.

Authors:  Katharina Rall; Gianmaria Barresi; Michael Walter; Sven Poths; Karina Haebig; Karin Schaeferhoff; Birgitt Schoenfisch; Olaf Riess; Diethelm Wallwiener; Michael Bonin; Sara Brucker
Journal:  Orphanet J Rare Dis       Date:  2011-05-28       Impact factor: 4.123

7.  Evaluation of SHOX copy number variations in patients with Müllerian aplasia.

Authors:  Maria Sandbacka; Mervi Halttunen; Varpu Jokimaa; Kristiina Aittomäki; Hannele Laivuori
Journal:  Orphanet J Rare Dis       Date:  2011-08-02       Impact factor: 4.123

Review 8.  Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.

Authors:  Karine Morcel; Laure Camborieux; Daniel Guerrier
Journal:  Orphanet J Rare Dis       Date:  2007-03-14       Impact factor: 4.123

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

Authors:  Laura Bernardini; Stefania Gimelli; Cristina Gervasini; Massimo Carella; Anwar Baban; Giada Frontino; Giancarlo Barbano; Maria Teresa Divizia; Luigi Fedele; Antonio Novelli; Frédérique Béna; Faustina Lalatta; Monica Miozzo; Bruno Dallapiccola
Journal:  Orphanet J Rare Dis       Date:  2009-11-04       Impact factor: 4.123

Review 10.  Studying Müllerian duct anomalies - from cataloguing phenotypes to discovering causation.

Authors:  Laura Santana González; Mara Artibani; Ahmed Ashour Ahmed
Journal:  Dis Model Mech       Date:  2021-06-23       Impact factor: 5.758
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