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。Laron syndrome - A historical perspective
Zvi Laron et al.
REVIEWS IN ENDOCRINE & METABOLIC DISORDERS (2021)
Clinical Characteristics of Short-Stature Patients With an NPR2 Mutation and the Therapeutic Response to rhGH
Xiaoan Ke et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2021)
Familial Short Stature-A Novel Phenotype of Growth Plate Collagenopathies
Lukas Plachy et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2021)
Integrated analysis of COL2A1 variant data and classification of type II collagenopathies
Boyan Zhang et al.
CLINICAL GENETICS (2020)
High Prevalence of Growth Plate Gene Variants in Children With Familial Short Stature Treated With GH
Lukas Plachy et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2019)
Identification of two novel COL10A1 heterozygous mutations in two Chinese pedigrees with Schmid-type metaphyseal chondrodysplasia
Lingchi Kong et al.
BMC MEDICAL GENETICS (2019)
Genetic short stature
Michelle Grunauer et al.
GROWTH HORMONE & IGF RESEARCH (2018)
Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations
Alexandra Gkourogianni et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2017)
Noonan syndrome in diverse populations
Paul Kruszka et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)
A Study of the Clinical and Radiological Features in a Cohort of 93 Patients with a COL2A1 Mutation Causing Spondyloepiphyseal Dysplasia Congenita or a Related Phenotype
Paulien A. Terhal et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)
Nosology and Classification of Genetic Skeletal Disorders: 2015 Revision
Luisa Bonafe et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)
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)
A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing
Huiwen Zhang et al.
JOURNAL OF HUMAN GENETICS (2015)
Short and tall stature: a new paradigm emerges
Jeffrey Baron et al.
NATURE REVIEWS ENDOCRINOLOGY (2015)
Efficacy and Safety of Growth Hormone Treatment in Children with Hypochondroplasia: Comparison with an Historical Cohort
Graziella Pinto et al.
HORMONE RESEARCH IN PAEDIATRICS (2014)
The Collagenopathies: Review of Clinical Phenotypes and Molecular Correlations
Rebekah Jobling et al.
CURRENT RHEUMATOLOGY REPORTS (2014)
Development of the Endochondral Skeleton
Fanxin Long et al.
COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2013)
The skeletal dysplasias
Deborah Krakow et al.
GENETICS IN MEDICINE (2010)
Effect of Long-Term Growth Hormone Treatment on Final Height of Children with Russell-Silver Syndrome
Meropi Toumba et al.
HORMONE RESEARCH IN PAEDIATRICS (2010)
Fast and accurate short read alignment with Burrows-Wheeler transform
Heng Li et al.
BIOINFORMATICS (2009)
GH Therapy in Noonan Syndrome: Review of Final Height Data
Jovanna Dahlgren
HORMONE RESEARCH (2009)
Targeted Induction of Endoplasmic Reticulum Stress Induces Cartilage Pathology
M. Helen Rajpar et al.
PLOS GENETICS (2009)
Growth hormone treatment completely normalizes adult height and improves body composition in Prader-Willi syndrome: Experience from KIGS (Pfizer international growth database)
A. C. Lindgren et al.
HORMONE RESEARCH (2008)
Identification of Four Novel COL10A1 Missense Mutations in Schmid Metaphyseal Chondrodysplasia: Further Evidence That Collagen X NC1 Mutations Impair Trimer Assembly
John F. Bateman et al.
HUMAN MUTATION (2004)
A stop codon mutation in COL11A2 induces Exon skipping and leads to non-ocular Stickler syndrome
MM Vuoristo et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
Efficacy of growth hormone therapy for patients with skeletal dysplasia
H Kanazawa et al.
JOURNAL OF BONE AND MINERAL METABOLISM (2003)
A mutation in COL9A1 causes multiple epiphyseal dysplasia:: Further evidence for locus heterogeneity
M Czarny-Ratajczak et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Collagen XI nucleates self-assembly and limits lateral growth of cartilage fibrils
UK Blaschke et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2000)
分享论文
