Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors

Spermatogonial stem cells: Mouse and human comparisons

(2009) Martin Dym et al.   BIRTH DEFECTS RESEARCH PART C-EMBRYO TODAY-REVIEWS

Genetic Reconstruction of Mouse Spermatogonial Stem Cell Self-Renewal In Vitro by Ras-Cyclin D2 Activation

(2009) Jiyoung Lee et al.   Cell Stem Cell

The role of senescence and prosurvival signaling in controlling the oncogenic activity of FGFR2 mutants associated with cancer and birth defects

(2009) Sara Ota et al.   HUMAN MOLECULAR GENETICS

Understanding what determines the frequency and pattern of human germline mutations

(2009) Norman Arnheim et al.   NATURE REVIEWS GENETICS

The Ups and Downs of Mutation Frequencies during Aging Can Account for the Apert Syndrome Paternal Age Effect

(2009) Song-Ro Yoon et al.   PLoS Genetics

The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US

(2008) D.K. Waller et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Hypochondroplasia and acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene?

(2008) Lidia Castro-Feijóo et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders

(2008) Yoko Aoki et al.   HUMAN MUTATION

Common and rare variants in multifactorial susceptibility to common diseases

(2008) Walter Bodmer et al.   NATURE GENETICS

A germ-line-selective advantage rather than an increased mutation rate can explain some unexpectedly common human disease mutations

(2008) S.-K. Choi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Role of ERK1/2 signaling in congenital valve malformations in Noonan syndrome

(2008) M. Krenz et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Drug-sensitive FGFR2 mutations in endometrial carcinoma

(2008) A. Dutt et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Increased achondroplasia mutation frequency with advanced age and evidence for G1138A mosaicism in human testis biopsies

(2007) Mbarka Dakouane Giudicelli et al.   FERTILITY AND STERILITY

Gdnf Upregulates c-Fos Transcription via the Ras/Erk1/2 Pathway to Promote Mouse Spermatogonial Stem Cell Proliferation

(2007) Zuping He et al.   STEM CELLS