Associated Papers
Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.
Pierce SE et al.
Nature, 2025
Acroosteolysis and facial dysmorphia: a new case of Hajdu-Cheney syndrome.
González Del Pozo P et al.
Reumatologia Clinica, 2023
Progress and Current Status in Hajdu-Cheney Syndrome with Focus on Novel Genetic Research.
Aida N et al.
International Journal of Molecular Sciences, 2022
Hajdu Cheney Syndrome due to NOTCH2 defect - First case report from Pakistan and review of literature.
Ahmed S et al.
Annals of Medicine and Surgery (2012), 2021
Genetics Evaluation of Targeted Exome Sequencing in 223 Chinese Probands With Genetic Skeletal Dysplasias.
Lv S et al.
Frontiers in Cell and Developmental Biology, 2021
Distinct severity of phenotype in Hajdu-Cheney syndrome: a case report and literature review.
Zeng C et al.
Bmc Musculoskeletal Disorders, 2020
NOTCH2 Hajdu-Cheney Mutations Escape SCFFBW7-Dependent Proteolysis to Promote Osteoporosis.
Fukushima H et al.
Molecular Cell, 2017
The developmental biology of genetic Notch disorders.
Mašek J et al.
Development (cambridge, England), 2017
A mutation in NOTCH2 gene in a Chinese patient with Hajdu-Cheney syndrome.
Gu JM et al.
Joint Bone Spine, 2013
Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome.
Narumi Y et al.
American Journal of Medical Genetics. Part A, 2013
Severe osteoporosis and mutation in NOTCH2 gene in a woman with Hajdu-Cheney syndrome.
Stathopoulos IP et al.
Bone, 2013
Whole-genome sequencing identifies recurrent somatic NOTCH2 mutations in splenic marginal zone lymphoma.
Kiel MJ et al.
The Journal of Experimental Medicine, 2012
Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome.
Gray MJ et al.
European Journal of Human Genetics : Ejhg, 2012
Mutations in NOTCH2 in families with Hajdu-Cheney syndrome.
Majewski J et al.
Human Mutation, 2011
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss.
Simpson MA et al.
Nature Genetics, 2011
[Hajdu-Cheney Syndrome: a case of acroosteolysis].
Cunha I et al.
Acta Reumatologica Portuguesa, 0