Literature DB >> 19267408

LAPS syndrome and Myhre syndrome: two disorders or one?

Noralane M Lindor1.   

Abstract

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Year:  2009        PMID： 19267408     DOI： 10.1002/ajmg.a.32719

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


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  3 in total

1.  Natural history and life-threatening complications in Myhre syndrome and review of the literature.

Authors:  Livia Garavelli; Ilenia Maini; Federica Baccilieri; Ivan Ivanovski; Marzia Pollazzon; Simonetta Rosato; Lorenzo Iughetti; Sheila Unger; Andrea Superti-Furga; Marco Tartaglia
Journal:  Eur J Pediatr       Date:  2016-08-25       Impact factor: 3.183

2.  Myhre and LAPS syndromes: clinical and molecular review of 32 patients.

Authors:  Caroline Michot; Carine Le Goff; Clémentine Mahaut; Alexandra Afenjar; Alice S Brooks; Philippe M Campeau; Anne Destree; Maja Di Rocco; Dian Donnai; Raoul Hennekam; Delphine Heron; Sébastien Jacquemont; Peter Kannu; Angela E Lin; Sylvie Manouvrier-Hanu; Sahar Mansour; Sandrine Marlin; Ruth McGowan; Helen Murphy; Annick Raas-Rothschild; Marlène Rio; Marleen Simon; Irene Stolte-Dijkstra; James R Stone; Yves Sznajer; John Tolmie; Renaud Touraine; Jenneke van den Ende; Nathalie Van der Aa; Ton van Essen; Alain Verloes; Arnold Munnich; Valérie Cormier-Daire
Journal:  Eur J Hum Genet       Date:  2014-01-15       Impact factor: 4.246

3.  A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.

Authors:  Viviana Caputo; Luciano Cianetti; Marcello Niceta; Claudio Carta; Andrea Ciolfi; Gianfranco Bocchinfuso; Eugenio Carrani; Maria Lisa Dentici; Elisa Biamino; Elga Belligni; Livia Garavelli; Loredana Boccone; Daniela Melis; Generoso Andria; Bruce D Gelb; Lorenzo Stella; Margherita Silengo; Bruno Dallapiccola; Marco Tartaglia
Journal:  Am J Hum Genet       Date:  2012-01-13       Impact factor: 11.025
  3 in total

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