Associated Papers
Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.
Pierce SE et al.
Nature, 2025
41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen
Progress and Current Status in Hajdu-Cheney Syndrome with Focus on Novel Genetic Research.
Aida N et al.
International Journal of Molecular Sciences, 2022
The developmental biology of genetic Notch disorders.
Mašek J et al.
Development (cambridge, England), 2017
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
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
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