Literature DB >> 12843331

Myhre syndrome: new reports, review, and differential diagnosis.

L Burglen, D Héron, A Moerman, A Dieux-Coeslier, J-P Bourguignon, A Bachy, J-C Carel, V Cormier-Daire, S Manouvrier, A Verloes.   

Abstract

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Year:  2003        PMID： 12843331      PMCID： PMC1735530          DOI： 10.1136/jmg.40.7.546

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


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  10 in total

1.  17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations.

Authors:  Sarah Vergult; Andrew Dauber; Barbara Delle Chiaie; Elke Van Oudenhove; Marleen Simon; Ali Rihani; Bart Loeys; Joel Hirschhorn; Jean Pfotenhauer; John A Phillips; Shehla Mohammed; Caroline Ogilvie; John Crolla; Geert Mortier; Björn Menten
Journal:  Eur J Hum Genet       Date:  2011-12-14       Impact factor: 4.246

2.  Novel Ocular and Inner Ear Anomalies in a Patient with Myhre Syndrome.

Authors:  Semra Gürsoy; Filiz Hazan; Tülay Öztürk; Halil Ateş
Journal:  Mol Syndromol       Date:  2019-12-20

3.  SMAD4 mutations and cross-talk between TGF-β/IFNγ signaling accelerate rates of DNA damage and cellular senescence, resulting in a segmental progeroid syndrome-the Myhre syndrome.

Authors:  Renuka Kandhaya-Pillai; Deyin Hou; Jiaming Zhang; Xiaomeng Yang; Goli Compoginis; Takayasu Mori; Tamara Tchkonia; George M Martin; Fuki M Hisama; James L Kirkland; Junko Oshima
Journal:  Geroscience       Date:  2021-01-05       Impact factor: 7.713

4.  Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.

Authors:  Carine Le Goff; Clémentine Mahaut; Avinash Abhyankar; Wilfried Le Goff; Valérie Serre; Alexandra Afenjar; Anne Destrée; Maja di Rocco; Delphine Héron; Sébastien Jacquemont; Sandrine Marlin; Marleen Simon; John Tolmie; Alain Verloes; Jean-Laurent Casanova; Arnold Munnich; Valérie Cormier-Daire
Journal:  Nat Genet       Date:  2011-12-11       Impact factor: 38.330

Review 5.  Chondrodysplasias and TGFβ signaling.

Authors:  Carine Le Goff; Valerie Cormier-Daire
Journal:  Bonekey Rep       Date:  2015-03-11

6.  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

7.  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

8.  Autism Spectrum Disorder and Psychiatric Comorbidity in a Patient with Myhre Syndrome.

Authors:  Pehlivanidis Artemios; Spyropoulou Areti; Papanikolaou Katerina; Fryssira Helen; Tsoytsoy Eirini; Papageorgiou Charalambos
Journal:  J Autism Dev Disord       Date:  2019-07

9.  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

10.  Clinical application of exome sequencing in undiagnosed genetic conditions.

Authors:  Anna C Need; Vandana Shashi; Yuki Hitomi; Kelly Schoch; Kevin V Shianna; Marie T McDonald; Miriam H Meisler; David B Goldstein
Journal:  J Med Genet       Date:  2012-05-11       Impact factor: 6.318
  10 in total

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