Literature DB >> 7449179

Hereditary urogenital adysplasia.

R N Schimke, C R King.   

Abstract

A family is reported in which three-generation transmission of renal agenesis-dysplasia occurred without any skeletal defects, but with uterine anomaly. The term, hereditary urogenital adysplasia is suggested and the mode of inheritance is discussed.

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Mesh：

Year:  1980        PMID： 7449179     DOI： 10.1111/j.1399-0004.1980.tb01786.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  9 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.  Hereditary renal adysplasia, pulmonary hypoplasia and Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a case report.

Authors:  Pedro Acién; Francisco Galán; Irene Manchón; Eva Ruiz; Maribel Acién; Luis A Alcaraz
Journal:  Orphanet J Rare Dis       Date:  2010-04-14       Impact factor: 4.123

3.  Mayer-Rokitansky-Kuster-Hauser syndrome diagnosed by magnetic resonance imaging. Role of imaging to identify and evaluate the uncommon variation in development of the female genital tract.

Authors:  Valeria Fiaschetti; Amedeo Taglieri; Vito Gisone; Irene Coco; Giovanni Simonetti
Journal:  J Radiol Case Rep       Date:  2012-04-01

4.  Genetic bases of renal agenesis in the ACI rat: mapping of Renag1 to chromosome 14.

Authors:  James D Shull; Cynthia M Lachel; Tracy E Strecker; Thomas J Spady; Martin Tochacek; Karen L Pennington; Clare R Murrin; Jane L Meza; Beverly S Schaffer; Lisa A Flood; Karen A Gould
Journal:  Mamm Genome       Date:  2006-07-14       Impact factor: 2.957

5.  An autosomal dominant syndrome of renal and anogenital malformations with syndactyly.

Authors:  A J Green; R N Sandford; B C Davison
Journal:  J Med Genet       Date:  1996-07       Impact factor: 6.318

Review 6.  The Mayer-Rokitansky-Küster-Hauser syndrome (congenital absence of uterus and vagina)--phenotypic manifestations and genetic approaches.

Authors:  Daniel Guerrier; Thomas Mouchel; Laurent Pasquier; Isabelle Pellerin
Journal:  J Negat Results Biomed       Date:  2006-01-27

Review 7.  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

8.  Genetic etiology of renal agenesis: fine mapping of Renag1 and identification of Kit as the candidate functional gene.

Authors:  Nyssa Becker Samanas; Tessa W Commers; Kirsten L Dennison; Quincy Eckert Harenda; Scott G Kurz; Cynthia M Lachel; Kristen Leland Wavrin; Michael Bowler; Isaac J Nijman; Victor Guryev; Edwin Cuppen; Norbert Hubner; Ruth Sullivan; Chad M Vezina; James D Shull
Journal:  PLoS One       Date:  2015-02-18       Impact factor: 3.240

Review 9.  Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update.

Authors:  Morten Krogh Herlin; Michael Bjørn Petersen; Mats Brännström
Journal:  Orphanet J Rare Dis       Date:  2020-08-20       Impact factor: 4.123
  9 in total

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