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。Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human Disease
Anne Goriely et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome
Viviana Caputo et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Mutations of SMAD4 account for both LAPS and Myhre syndromes
Noralane M. Lindor et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
Retinal involvement in two unrelated patients with Myhre syndrome
Essam Al Ageeli et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2012)
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome
Carine Le Goff et al.
NATURE GENETICS (2012)
The Myhre syndrome: report of two cases
D. Garcia-Cruz et al.
CLINICAL GENETICS (2010)
A new syndrome of short stature, joint limitation and muscle hypertrophy
Michael A. Soljak et al.
CLINICAL GENETICS (2010)
A new growth deficiency syndrome
Selma A. Myhre et al.
CLINICAL GENETICS (2010)
LAPS Syndrome and Myhre Syndrome; Two Disorders or One?
Noralane M. Lindor
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
Chondrocyte-Specific Smad4 Gene Conditional Knockout Results in Hearing Loss and Inner Ear Malformation in Mice
Shi-ming Yang et al.
DEVELOPMENTAL DYNAMICS (2009)
The fifth female patient with Myhre syndrome:: further delineation
Luis E. Becerra-Solano et al.
CLINICAL DYSMORPHOLOGY (2008)
Myhre syndrome in a female with previously undescribed symptoms: Further delineation of the phenotype
MAM van Steensel et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Smad4 is required for the normal organization of the cartilage growth plate
JH Zhang et al.
DEVELOPMENTAL BIOLOGY (2005)
Myhre's syndrome in a girl with normal intelligence
I Rulli et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Second female case of Myhre syndrome
MG Lopez-Cardona et al.
CLINICAL DYSMORPHOLOGY (2004)
Myhre syndrome:: new reports, review, and differential diagnosis
L Burglen et al.
JOURNAL OF MEDICAL GENETICS (2003)
Mechanisms of TGF-β signaling from cell membrane to the nucleus
YG Shi et al.
CELL (2003)
Confirmation of existence of a new syndrome: LAPS syndrome
NM Lindor et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2002)
Case of Myhre syndrome with autism and peculiar skin histological findings
L Titomanlio et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2001)
A new case of Myhre syndrome
ML Whiteford et al.
CLINICAL DYSMORPHOLOGY (2001)