Literature DB >> 11303518

A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes?

V Pingault, N Bondurand, N Lemort, M Sancandi, I Ceccherini, J P Hugot, P S Jouk, M Goossens.   

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Year:  2001        PMID: 11303518      PMCID: PMC1734825          DOI: 10.1136/jmg.38.3.205

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


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  10 in total

1.  Clinical relationship between EDN-3 gene, EDNRB gene and Hirschsprung's disease.

Authors:  Xiang-Long Duan; Xian-Sheng Zhang; Guo-Wei Li
Journal:  World J Gastroenterol       Date:  2003-12       Impact factor: 5.742

2.  Shah Waardenberg syndrome.

Authors:  P R Gupta; S K Chowdhary; K Joshi; R Shukla; K L N Rao
Journal:  Indian J Pediatr       Date:  2002-05       Impact factor: 1.967

Review 3.  Building a brain in the gut: development of the enteric nervous system.

Authors:  A M Goldstein; R M W Hofstra; A J Burns
Journal:  Clin Genet       Date:  2012-11-27       Impact factor: 4.438

Review 4.  Endothelin and the Cardiovascular System: The Long Journey and Where We Are Going.

Authors:  Andreas Haryono; Risa Ramadhiani; Gusty Rizky Teguh Ryanto; Noriaki Emoto
Journal:  Biology (Basel)       Date:  2022-05-16

5.  Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.

Authors:  Nadege Bondurand; Florence Dastot-Le Moal; Laure Stanchina; Nathalie Collot; Viviane Baral; Sandrine Marlin; Tania Attie-Bitach; Irina Giurgea; Laurent Skopinski; William Reardon; Annick Toutain; Pierre Sarda; Anis Echaieb; Marilyn Lackmy-Port-Lis; Renaud Touraine; Jeanne Amiel; Michel Goossens; Veronique Pingault
Journal:  Am J Hum Genet       Date:  2007-10-22       Impact factor: 11.025

6.  Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.

Authors:  Christopher T Gordon; Florence Petit; Peter M Kroisel; Linda Jakobsen; Roseli Maria Zechi-Ceide; Myriam Oufadem; Christine Bole-Feysot; Solenn Pruvost; Cécile Masson; Frédéric Tores; Thierry Hieu; Patrick Nitschké; Pernille Lindholm; Philippe Pellerin; Maria Leine Guion-Almeida; Nancy Mizue Kokitsu-Nakata; Siulan Vendramini-Pittoli; Arnold Munnich; Stanislas Lyonnet; Muriel Holder-Espinasse; Jeanne Amiel
Journal:  Am J Hum Genet       Date:  2013-11-21       Impact factor: 11.025

7.  Genetic analysis of an Indian family with members affected with Waardenburg syndrome and Duchenne muscular dystrophy.

Authors:  Saketh Kapoor; Parayil Sankaran Bindu; Arun B Taly; Sanjib Sinha; Narayanappa Gayathri; S Vasantha Rani; Giriraj Ratan Chandak; Arun Kumar
Journal:  Mol Vis       Date:  2012-07-20       Impact factor: 2.367

8.  Waardenburg Syndrome Expression and Penetrance.

Authors:  Myeshia V Shelby
Journal:  J Rare Dis Res Treat       Date:  2017-12-10

9.  A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1.

Authors:  Filiz Hazan; A Taylan Ozturk; Hamit Adibelli; Nurettin Unal; Ajlan Tukun
Journal:  Mol Vis       Date:  2013-01-29       Impact factor: 2.367

10.  Genetic Analyses of a Three Generation Family Segregating Hirschsprung Disease and Iris Heterochromia.

Authors:  Long Cui; Emily Hoi-Man Wong; Guo Cheng; Manoel Firmato de Almeida; Man-Ting So; Pak-Chung Sham; Stacey S Cherny; Paul Kwong-Hang Tam; Maria-Mercè Garcia-Barceló
Journal:  PLoS One       Date:  2013-06-26       Impact factor: 3.240

  10 in total

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