Literature DB >> 7296942

A new growth deficiency syndrome.

S A Myhre, R H Ruvalcaba, C B Graham.   

Abstract

Entities:  

Mesh：

Year:  1981        PMID： 7296942     DOI： 10.1111/j.1399-0004.1981.tb01798.x

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


× No keyword cloud information.
  17 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.  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

4.  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

5.  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

6.  Increased risk of thyroid and pancreatic carcinoma in familial adenomatous polyposis.

Authors:  F M Giardiello; G J Offerhaus; D H Lee; A J Krush; A C Tersmette; S V Booker; N C Kelley; S R Hamilton
Journal:  Gut       Date:  1993-10       Impact factor: 23.059

7.  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

8.  SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan.

Authors:  Pasquale Piccolo; Pratibha Mithbaokar; Valeria Sabatino; John Tolmie; Daniela Melis; Maria Cristina Schiaffino; Mirella Filocamo; Generoso Andria; Nicola Brunetti-Pierri
Journal:  Eur J Hum Genet       Date:  2014-01-08       Impact factor: 4.246

9.  Acromelic dysplasias: how rare musculoskeletal disorders reveal biological functions of extracellular matrix proteins.

Authors:  Sarah Stanley; Zerina Balic; Dirk Hubmacher
Journal:  Ann N Y Acad Sci       Date:  2020-09-02       Impact factor: 5.691

10.  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
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.