标题
Myhre syndrome
作者
关键词
-
出版物
CLINICAL GENETICS
Volume 85, Issue 6, Pages 503-513
出版商
Wiley
发表日期
2014-03-03
DOI
10.1111/cge.12365
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Myhre and LAPS syndromes: clinical and molecular review of 32 patients
- (2014) Caroline Michot et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Recurrent Pericarditis in Myhre Syndrome
- (2013) Paolo Picco et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome
- (2012) Viviana Caputo et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations of SMAD4 account for both LAPS and Myhre syndromes
- (2012) Noralane M. Lindor et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- From tall to short: The role of TGFβ signaling in growth and its disorders
- (2012) Carine Le Goff et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- Retinal involvement in two unrelated patients with Myhre syndrome
- (2012) Essam Al Ageeli et al. European Journal of Medical Genetics
- Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias
- (2011) Carine Le Goff et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome
- (2011) Carine Le Goff et al. NATURE GENETICS
- Overlapping spectra ofSMAD4mutations in juvenile polyposis (JP) and JP-HHT syndrome
- (2010) Carol Gallione et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- The Myhre syndrome: report of two cases
- (2010) D. Garcia-Cruz et al. CLINICAL GENETICS
- A new syndrome of short stature, joint limitation and muscle hypertrophy
- (2010) Michael A. Soljak et al. CLINICAL GENETICS
- A new growth deficiency syndrome
- (2010) Selma A. Myhre et al. CLINICAL GENETICS
- Mutations in Fibrillin-1 Cause Congenital Scleroderma: Stiff Skin Syndrome
- (2010) B. L. Loeys et al. Science Translational Medicine
- LAPS syndrome and Myhre syndrome: Two disorders or one?
- (2009) Noralane M. Lindor AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- The fifth female patient with Myhre syndrome: further delineation
- (2009) Luis E. Becerra-Solano et al. CLINICAL DYSMORPHOLOGY
- ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation
- (2008) Carine Le Goff et al. NATURE GENETICS
- How the Smads regulate transcription
- (2007) Sarah Ross et al. INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
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