Associated Papers
Pathways to Facilitate Early Recognition and Diagnosis of Hypochondroplasia.
Irving M et al.
Advances in Therapy, 2026
Infigratinib low dose therapy is an effective strategy to treat hypochondroplasia.
Demuynck B et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2025
Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience.
Kim SJ et al.
Annals of Pediatric Endocrinology & Metabolism, 2024
Clinical and radiologic evaluation of a Turkish family with hypochondroplasia and a rare FGFR3 variant.
Ekinci S et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2022
Cilia kinases in skeletal development and homeostasis.
Abraham SP et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2022
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Identification of a novel mutation of FGFR3 gene in a large Chinese pedigree with hypochondroplasia by next-generation sequencing: A case report and brief literature review.
Yao G et al.
Medicine, 2019
Noninvasive prenatal test for FGFR3-related skeletal dysplasia based on next-generation sequencing and plasma cell-free DNA: Test performance analysis and feasibility exploration.
Ren Y et al.
Prenatal Diagnosis, 2018
A novel S269C mutation in fibroblast growth factor receptor 3 in a Japanese child with hypochondroplasia.
Takahashi I et al.
Human Genome Variation, 2018
Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach.
Chitty LS et al.
Prenatal Diagnosis, 2015
FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry.
Xue Y et al.
Molecular Genetics & Genomic Medicine, 2014
Hypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation: Is It Just an Association?
Mustafa M et al.
Case Reports in Endocrinology, 2014
Detection of a de novo Y278C mutation in FGFR3 in a pregnancy with severe fetal hypochondroplasia: prenatal diagnosis and literature review.
Chen CP et al.
Taiwanese Journal of Obstetrics & Gynecology, 2013
A novel missense mutation of FGFR3 in a Chinese female and her fetus with Hypochondroplasia by next-generation sequencing.
Wang H et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2013
Radiological clues to the early diagnosis of hypochondroplasia in the neonatal period: report of two patients.
Saito T et al.
American Journal of Medical Genetics. Part A, 2012
FGFR3 related skeletal dysplasias diagnosed prenatally by ultrasonography and molecular analysis: presentation of 17 cases.
Hatzaki A et al.
American Journal of Medical Genetics. Part A, 2011
Thanatophoric dysplasia caused by double missense FGFR3 mutations.
Pannier S et al.
American Journal of Medical Genetics. Part A, 2009
Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene.
Leroy JG et al.
American Journal of Medical Genetics. Part A, 2007
Clinical dividends from the molecular genetic diagnosis of craniosynostosis.
Wilkie AO et al.
American Journal of Medical Genetics. Part A, 2007
Clinical dividends from the molecular genetic diagnosis of craniosynostosis.
Wilkie AO et al.
American Journal of Medical Genetics. Part A, 2006
The new bone biology: pathologic, molecular, and clinical correlates.
Cohen MM
American Journal of Medical Genetics. Part A, 2006
Prenatal diagnosis of hypochondroplasia: report of two cases.
Karadimas C et al.
American Journal of Medical Genetics. Part A, 2006
Prevalence of Mutations in the FGFR3 Gene in Individuals with Idiopathic Short Stature.
Mamada M et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2006
A germline mutation in KIT in familial diffuse cutaneous mastocytosis.
Tang X et al.
Journal of Medical Genetics, 2004
[Mutations in the Fibroblast Growth Factor Receptor 3 gene (FGFR3) in Chilean patients with idiopathic short stature, hypochondroplasia and achondroplasia].
Mancilla EE et al.
Revista Medica De Chile, 2003
Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.
Thauvin-Robinet C et al.
American Journal of Medical Genetics. Part A, 2003
Some chondrodysplasias with short limbs: molecular perspectives.
Cohen MM
American Journal of Medical Genetics, 2002
Prenatal diagnosis and genetic analysis of type I and type II thanatophoric dysplasia.
Chen CP et al.
Prenatal Diagnosis, 2001
Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.
Bellus GA et al.
American Journal of Human Genetics, 2000
Asn540Lys mutation in fibroblast growth factor receptor 3 and phenotype in hypochondroplasia.
Grigelioniené G et al.
Acta Paediatrica (oslo, Norway : 1992), 2000
The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans.
Vajo Z et al.
Endocrine Reviews, 2000
Identification of a common N540K mutation in 8/18 Taiwanese hypochondroplasia patients: further evidence for genetic heterogeneity.
Tsai FJ et al.
Clinical Genetics, 1999
Clinical spectrum of fibroblast growth factor receptor mutations.
Passos-Bueno MR et al.
Human Mutation, 1999
Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia.
Deutz-Terlouw PP et al.
Human Mutation, 1998
Thanatophoric dysplasia type I.
Chang TK et al.
Acta Paediatrica Taiwanica = Taiwan Er Ke Yi Xue Hui Za Zhi, 0
High specificity of head circumference to recognize N540K mutation in hypochondroplasia.
Fano V et al.
Annals of Human Biology, 0