Associated Papers
Clinical Validation of a Rapid Automated Lymphoma Next-Generation Sequencing Panel.
Krigstein M et al.
Annals of Laboratory Medicine, 2025
A NOTCH2 pathogenic variant and HES1 regulate osteoclastogenesis in induced pluripotent stem cells.
Canalis E et al.
Bone, 2025
Progress and Current Status in Hajdu-Cheney Syndrome with Focus on Novel Genetic Research.
Aida N et al.
International Journal of Molecular Sciences, 2022
Diagnostic Impact of Next-Generation Sequencing Panels for Lymphoproliferative Neoplasms on Small-Volume Biopsies.
Fei F et al.
American Journal of Clinical Pathology, 2022
Novel bioinformatic classification system for genetic signatures identification in diffuse large B-cell lymphoma.
Zhang W et al.
Bmc Cancer, 2020
Antisense oligonucleotides targeting Notch2 ameliorate the osteopenic phenotype in a mouse model of Hajdu-Cheney syndrome.
Canalis E et al.
The Journal of Biological Chemistry, 2020
Clinical and experimental aspects of notch receptor signaling: Hajdu-Cheney syndrome and related disorders.
Canalis E
Metabolism: Clinical and Experimental, 2018
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
An Antibody to Notch2 Reverses the Osteopenic Phenotype of Hajdu-Cheney Mutant Male Mice.
Canalis E et al.
Endocrinology, 2017
Hajdu Cheney Syndrome; report of a novel NOTCH2 mutation and treatment with denosumab.
Adami G et al.
Bone, 2016
Landscape of somatic mutations in 560 breast cancer whole-genome sequences.
Nik-Zainal S et al.
Nature, 2016
Hajdu-Cheney syndrome: phenotypical progression with de-novo NOTCH2 mutation.
Descartes M et al.
Clinical Dysmorphology, 2014
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
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
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.
Isidor B et al.
Nature Genetics, 2011