Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Endocrine Alterations in Patients With Pachydermoperiostosis.
Stelmachowska-Banaś M et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Insights into Natural History, Phenotypic, and Molecular Spectrum in a Large Cohort of Osteosclerotic Disorders.
Uludağ Alkaya D et al.
Calcified Tissue International, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Palmoplantar keratoderma and digital clubbing in 2 sisters with hypertrophic osteoarthropathy.
Eriksson D et al.
Jaad Case Reports, 2023
Clinical and biochemical characteristics of 12 Chinese primary hypertrophic osteoarthropathy patients with HPGD mutations.
Lu Q et al.
International Journal of Biological Sciences, 2022
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
A novel mutation in the HPGD gene results in the unusual phenotype of palmoplantar keratoderma with digital clubbing and hyperhidrosis.
Stephan C et al.
Jaad Case Reports, 2018
A novel mutation in the HPGD gene causing primary hypertrophic osteoarthropathy with digital clubbing in a Pakistani family.
Khan AK et al.
Annals of Human Genetics, 2018
A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy.
Erken E et al.
Modern Rheumatology, 2015
Primary hypertrophic osteoarthropathy with digital clubbing and palmoplantar hyperhidrosis caused by 15-PGHD/HPGD loss-of-function mutations.
Bergmann C et al.
Experimental Dermatology, 2011
GeneScreen: a program for high-throughput mutation detection in DNA sequence electropherograms.
Carr IM et al.
Journal of Medical Genetics, 2011
Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy.
Diggle CP et al.
Rheumatology (oxford, England), 2010
Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy.
Yüksel-Konuk B et al.
Rheumatology International, 2009
Mutation in the HPGD gene encoding NAD+ dependent 15-hydroxyprostaglandin dehydrogenase underlies isolated congenital nail clubbing (ICNC).
Tariq M et al.
Journal of Medical Genetics, 2009
Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy.
Uppal S et al.
Nature Genetics, 2008