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。A bibliometric overview of craniosynostosis research development
Rik Iping et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2021)
Use of the Growth Hormone Stimulation Test Result in the Management of Patients With a Short Stature
Moeber M. Mahzari et al.
CUREUS JOURNAL OF MEDICAL SCIENCE (2020)
Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis
Said C. Azoury et al.
INTERNATIONAL JOURNAL OF BIOLOGICAL SCIENCES (2017)
Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing
Fernanda A. Correa et al.
ARCHIVES OF ENDOCRINOLOGY METABOLISM (2017)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Short Stature, Accelerated Bone Maturation, and Early Growth Cessation Due to Heterozygous Aggrecan Mutations
Ola Nilsson et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2014)
A Ser252Trp Mutation in Fibroblast Growth Factor Receptor 2 (FGFR2) Mimicking Human Apert Syndrome Reveals an Essential Role for FGF Signaling in the Regulation of Endochondral Bone Formation
Peng Chen et al.
PLOS ONE (2014)
Bent Bone Dysplasia-FGFR2 type, a Distinct Skeletal Disorder, Has Deficient Canonical FGF Signaling
Amy E. Merrill et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Craniosynostosis
David Johnson et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2011)
Elements of Morphology: Standard Terminology for the Hands and Feet
Leslie G. Biesecker et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion
Nelio A. J. Oliveira et al.
BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY (2006)
Pfeiffer syndrome
Annick Vogels et al.
ORPHANET JOURNAL OF RARE DISEASES (2006)
Growth hormone therapy and quality of life in adults and children
DJ Radcliffe et al.
PHARMACOECONOMICS (2004)
Regulation of bone mass by growth hormone
RC Olney
MEDICAL AND PEDIATRIC ONCOLOGY (2003)
FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease
DM Ornitz et al.
GENES & DEVELOPMENT (2002)
Signaling by fibroblast growth factors (FGF) and fibroblast growth factor receptor 2 (FGFR2)-activating mutations blocks mineralization and induces apoptosis in osteoblasts
A Mansukhani et al.
JOURNAL OF CELL BIOLOGY (2000)