Literature DB >> 12676922

A novel duplication in the HOXA13 gene in a family with atypical hand-foot-genital syndrome.

L Frisén1, K Lagerstedt, M Tapper-Persson, I Kockum, A Nordenskjöld.   

Abstract

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Year:  2003        PMID： 12676922      PMCID： PMC1735421          DOI： 10.1136/jmg.40.4.e49

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  11 in total

Review 1.  Molecular basis for skeletal variation: insights from developmental genetic studies in mice.

Authors:  C Kappen; A Neubüser; R Balling; R Finnell
Journal:  Birth Defects Res B Dev Reprod Toxicol       Date:  2007-12

2.  A missense mutation of HOXA13 underlies hand-foot-genital syndrome in a Chinese family.

Authors:  Lihua Cao; Chen Chen; Yunji Leng; Lulu Yan; Shusen Wang; Xue Zhang; Yang Luo
Journal:  J Genet       Date:  2017-09       Impact factor: 1.166

3.  Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development.

Authors:  Elizabeth J Bhoj; Purita Ramos; Linda A Baker; Vidu Garg; Nicholas Cost; Agneta Nordenskjöld; Frederick F Elder; Steven B Bleyl; Neil E Bowles; Cammon B Arrington; Brigitte Delhomme; Amandine Vanhoutteghem; Philippe Djian; Andrew R Zinn
Journal:  Eur J Hum Genet       Date:  2011-02-02       Impact factor: 4.246

4.  A novel mutation of HOXA13 in a family with hand-foot-genital syndrome and the role of polyalanine expansions in the spectrum of Müllerian fusion anomalies.

Authors:  Elisa M Jorgensen; Jane I Ruman; Leo Doherty; Hugh S Taylor
Journal:  Fertil Steril       Date:  2009-07-09       Impact factor: 7.329

5.  Diminished vaginal HOXA13 expression in women with pelvic organ prolapse.

Authors:  Kathleen A Connell; Marsha K Guess; Alison Tate; Vaagn Andikyan; Richard Bercik; Hugh S Taylor
Journal:  Menopause       Date:  2009 May-Jun       Impact factor: 2.953

6.  Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion.

Authors:  Morten Dunø; Hanne Hove; Maria Kirchhoff; Koenraad Devriendt; Marianne Schwartz
Journal:  Hum Genet       Date:  2004-09-18       Impact factor: 4.132

Review 7.  Male Reproductive Disorders and Fertility Trends: Influences of Environment and Genetic Susceptibility.

Authors:  Niels E Skakkebaek; Ewa Rajpert-De Meyts; Germaine M Buck Louis; Jorma Toppari; Anna-Maria Andersson; Michael L Eisenberg; Tina Kold Jensen; Niels Jørgensen; Shanna H Swan; Katherine J Sapra; Søren Ziebe; Lærke Priskorn; Anders Juul
Journal:  Physiol Rev       Date:  2016-01       Impact factor: 37.312

8.  Severe Developmental Delay in a Patient with 7p21.1-p14.3 Microdeletion Spanning the TWIST Gene and the HOXA Gene Cluster.

Authors:  H Fryssira; P Makrythanasis; A Kattamis; K Stokidis; B Menten; K Kosaki; P Willems; E Kanavakis
Journal:  Mol Syndromol       Date:  2011-11-12

9.  7p15 deletion as the cause of hand-foot-genital syndrome: a case report, literature review and proposal of a minimum region for this phenotype.

Authors:  Emiy Yokoyama; Dennise Lesley Smith-Pellegrin; Silvia Sánchez; Bertha Molina; Alfredo Rodríguez; Rocío Juárez; Esther Lieberman; Silvia Avila; José Luis Castrillo; Victoria Del Castillo; Sara Frías
Journal:  Mol Cytogenet       Date:  2017-11-15       Impact factor: 2.009

Review 10.  HoxA Genes and the Fin-to-Limb Transition in Vertebrates.

Authors:  João Leite-Castro; Vanessa Beviano; Pedro Nuno Rodrigues; Renata Freitas
Journal:  J Dev Biol       Date:  2016-02-17
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