Associated Papers
Hereditary Multiple Osteochondromas and Acute Lymphoblastic Leukemia: A Possible Role for EXT1 and EXT2 in Hematopoietic Malignancies.
Comisi F et al.
American Journal of Medical Genetics. Part A, 2025
Evaluating seven bioinformatics platforms for tertiary analysis of genomic data from whole exome sequencing in a pilot group of patients.
Bastida-Lertxundi N et al.
Advances in Laboratory Medicine, 2025
Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center study.
Zhang R et al.
Bmc Pediatrics, 2024
Secondary peripheral chondrosarcoma in multiple osteochondromas: a retrospective single-institution case series.
Gnoli M et al.
Orphanet Journal of Rare Diseases, 2024
A Genotype-Phenotype Study of Multiple Hereditary Exostoses in Forty-Three Patients.
Kim S et al.
Journal of Clinical Medicine, 2022
Identification of Novel EXT Mutations in Patients with Hereditary Multiple Exostoses Using Whole-Exome Sequencing.
Liang C et al.
Orthopaedic Surgery, 2020
Identification of a novel mutation in EXT2 in a fourth-generation Korean family with multiple osteochondromas and overview of mutation spectrum.
Yang A et al.
Annals of Human Genetics, 2019
Structural Features of Heparan Sulfate from Multiple Osteochondromas and Chondrosarcomas.
Veraldi N et al.
Molecules (basel, Switzerland), 2018
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
Whitworth J et al.
American Journal of Human Genetics, 2018
Clinical characteristics of hereditary multiple exostoses: a retrospective study of mainland chinese cases in recent 23 years.
Guo XL et al.
Journal of Huazhong University of Science and Technology. Medical Sciences = Hua Zhong Ke Ji Da Xue Xue Bao. Yi Xue Ying De Wen Ban = Huazhong Keji Daxue Xuebao. Yixue Yingdewen Ban, 2014
New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas.
Heinritz W et al.
Annals of Human Genetics, 2009
Three novel EXT1 and EXT2 gene mutations in Taiwanese patients with multiple exostoses.
Chen WC et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2006
An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas.
Wuyts W et al.
Clinical Genetics, 2005
Genotype-phenotype correlation in hereditary multiple exostoses.
Francannet C et al.
Journal of Medical Genetics, 2001
Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes.
Wuyts W et al.
Human Mutation, 2000
Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.
Wuyts W et al.
American Journal of Human Genetics, 1998
Positional cloning of a gene involved in hereditary multiple exostoses.
Wuyts W et al.
Human Molecular Genetics, 1996
[Positional cloning of the putative gene responsible for transient abnormal myelopoiesis and that for multiple cartilaginous exostoses].
Niikawa N
Rinsho Byori. the Japanese Journal of Clinical Pathology, 1996
Mutation analysis of hereditary multiple exostoses in the Chinese.
Xu L et al.
Human Genetics, 0