Literature DB >> 21897448

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

Karine Morcel1, Bruno Dallapiccola, Laurent Pasquier, Tanguy Watrin, Laura Bernardini, Daniel Guerrier.   

Abstract

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Year:  2011        PMID： 21897448      PMCID： PMC3260917          DOI： 10.1038/ejhg.2011.158

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  13 in total

Review 1.  Müllerian agenesis: etiology, diagnosis, and management.

Authors:  M Folch; I Pigem; J C Konje
Journal:  Obstet Gynecol Surv       Date:  2000-10       Impact factor: 2.347

2.  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.

Authors:  Carola Cheroki; 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
Journal:  Am J Med Genet A       Date:  2006-06-15       Impact factor: 2.802

3.  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.

Authors:  T H Lindner; P R Njolstad; Y Horikawa; L Bostad; G I Bell; O Sovik
Journal:  Hum Mol Genet       Date:  1999-10       Impact factor: 6.150

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

Authors:  Claude Bendavid; Laurent Pasquier; Tanguy Watrin; Karine Morcel; Josette Lucas; Isabelle Gicquel; Christèle Dubourg; Catherine Henry; Véronique David; Sylvie Odent; Jean Levêque; Isabelle Pellerin; Daniel Guerrier
Journal:  Eur J Med Genet       Date:  2006-10-01       Impact factor: 2.708

Review 5.  WNT4 and sex development.

Authors:  A Biason-Lauber; D Konrad
Journal:  Sex Dev       Date:  2008-11-05       Impact factor: 1.824

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

Authors:  Vera Uliana; Nicola Giordano; Rossella Caselli; Filomena Tiziana Papa; Francesca Ariani; Claudio Marcocci; Elena Gianetti; Giuseppe Martini; Panagiotis Papakostas; Fabio Rollo; Ilaria Meloni; Francesca Mari; Manuela Priolo; Alessandra Renieri; Ranuccio Nuti
Journal:  Clin Dysmorphol       Date:  2008-01       Impact factor: 0.816

7.  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

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

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

Authors:  Cristina Gervasini; Francesca Romana Grati; Faustina Lalatta; Silvia Tabano; Barbara Gentilin; Patrizia Colapietro; Simona De Toffol; Giada Frontino; Francesca Motta; Silvia Maitz; Laura Bernardini; Bruno Dallapiccola; Luigi Fedele; Lidia Larizza; Monica Miozzo
Journal:  Genet Med       Date:  2010-10       Impact factor: 8.822
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  8 in total

1.  A genome-wide screen for copy number alterations in an adolescent pilot cohort with müllerian anomalies.

Authors:  Jaclyn B Murry; Xiomara M Santos; Xiaoling Wang; Ying-Wooi Wan; Ignatia B Van den Veyver; Jennifer E Dietrich
Journal:  Fertil Steril       Date:  2014-12-06       Impact factor: 7.329

2.  Involvement of ITIH5, a candidate gene for congenital uterovaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome), in female genital tract development.

Authors:  Karine Morcel; Tanguy Watrin; Frédérique Jaffre; Stéphane Deschamps; Francis Omilli; Isabelle Pellerin; Jean Levêque; Daniel Guerrier
Journal:  Gene Expr       Date:  2012

Review 3.  Clinical and genetic aspects of Mayer-Rokitansky-Küster-Hauser syndrome.

Authors:  Susanne Ledig; Peter Wieacker
Journal:  Med Genet       Date:  2018-02-21

4.  Rare genital malformations in women's health research: sociodemographic, regional, and disease-related characteristics of patients with Mayer-Rokitansky-Küster-Hauser syndrome.

Authors:  Sara Yvonne Brucker; Leonie-Sophia Pösch; Joachim Graf; Alexander N Sokolov; Norbert Schaeffeler; Andrea Kronenthaler; Hanna Hiltner; Anke Wagner; Esther Ueding; Monika A Rieger; Dorit Schöller; Diana Stefanescu; Kristin Katharina Rall; Diethelm Wallwiener; Elisabeth Simoes
Journal:  BMC Womens Health       Date:  2020-06-29       Impact factor: 2.809

5.  Detection of de novo genetic variants in Mayer-Rokitansky-Küster-Hauser syndrome by whole genome sequencing.

Authors:  Hong-Xin Pan; Guang-Nan Luo; Sheng-Qing Wan; Cheng-Lu Qin; Jie Tang; Meng Zhang; Min Du; Ke-Ke Xu; Jin-Qiu Shi
Journal:  Eur J Obstet Gynecol Reprod Biol X       Date:  2019-08-02

6.  Protein-protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer-Rokitansky-Küster-Hauser syndrome.

Authors:  Paola Pontecorvi; Laura Bernardini; Anna Capalbo; Simona Ceccarelli; Francesca Megiorni; Enrica Vescarelli; Irene Bottillo; Nicoletta Preziosi; Maria Fabbretti; Giorgia Perniola; Pierluigi Benedetti Panici; Antonio Pizzuti; Paola Grammatico; Cinzia Marchese
Journal:  Sci Rep       Date:  2021-01-11       Impact factor: 4.379

Review 7.  The Embryological Landscape of Mayer-Rokitansky-Kuster-Hauser Syndrome: Genetics and Environmental Factors.

Authors:  Isaac Kyei-Barffour; Miranda Margetts; Alla Vash-Margita; Emanuele Pelosi
Journal:  Yale J Biol Med       Date:  2021-12-29

Review 8.  Identification of Genetic Causes in Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome: A Systematic Review of the Literature.

Authors:  Varvara Ermioni Triantafyllidi; Despoina Mavrogianni; Andreas Kalampalikis; Michael Litos; Stella Roidi; Lina Michala
Journal:  Children (Basel)       Date:  2022-06-27
  8 in total

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