Novel CLCN7 mutation identified in a Han Chinese family with autosomal dominant osteopetrosis-2

Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis

(2015) Eleonora Palagano et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADO-II) and intermediate autosomal recessive osteopetrosis (IARO) in Chinese patients

(2015) Q. Pang et al.   OSTEOPOROSIS INTERNATIONAL

Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss

(2015) Hong Xia et al.   PLoS One

Osteopetrosis and Its Relevance for the Discovery of New Functions Associated with the Skeleton

(2015) Amélie E. Coudert et al.   International Journal of Endocrinology

Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita

(2015) Xiangjun Huang et al.   PLoS One

The A242T Mutation in the Low-density Lipoprotein Receptor-related Protein 5 Gene in One Chinese Family with Osteosclerosis

(2014) Chun Wang et al.   INTERNAL MEDICINE

Identification of TCIRG1 and CLCN7 gene mutations in a patient with autosomal recessive osteopetrosis

(2014) TINGTING YU et al.   Molecular Medicine Reports

Mutant Cohesin in Premature Ovarian Failure

(2014) Sandrine Caburet et al.   NEW ENGLAND JOURNAL OF MEDICINE

A Fatal Case of Infantile Malignant Osteopetrosis Complicated by Pulmonary Arterial Hypertension after Hematopoietic Stem Cell Transplantation

(2014) Yuichi Kuroyanagi et al.   TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE

A NovelCOL4A5Mutation Identified in a Chinese Han Family Using Exome Sequencing

(2014) Xiaofei Xiu et al.   Biomed Research International

Generation of the first autosomal dominant osteopetrosis type II (ADO2) disease models

(2013) Imranul Alam et al.   BONE

Genetics in Endocrinology: Autosomal dominant osteopetrosis revisited: lessons from recent studies

(2013) Jens Bollerslev et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Skeletal dysplasias with increased bone density: Evolution of molecular pathogenesis in the last century

(2013) Shagun Aggarwal   GENE

Identification of two novel CLCN7 gene mutations in three Chinese families with autosomal dominant osteopetrosis type II

(2013) Hui Zheng et al.   JOINT BONE SPINE

A case of autosomal dominant osteopetrosis type II with a novel TCIRG1 gene mutation

(2013) Keiko Wada et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Osteopetrosis: genetics, treatment and new insights into osteoclast function

(2013) Cristina Sobacchi et al.   Nature Reviews Endocrinology

The virulence gene and clinical phenotypes of osteopetrosis in the Chinese population: six novel mutations of the CLCN7 gene in twelve osteopetrosis families

(2011) Chun Wang et al.   JOURNAL OF BONE AND MINERAL METABOLISM

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations

(2009) Alessandra Pangrazio et al.   HUMAN MUTATION

Osteopetrosis

(2009) Zornitza Stark et al.   Orphanet Journal of Rare Diseases