Associated Papers
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.3
Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features.
Zhou Y et al.
Italian Journal of Pediatrics, 2014
[The progress in molecular genetics and clinical features of arthrogryposis-renal tubular dysfunction-cholestasis syndrome].
Lan T et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014
Glomerular involvement in the arthrogryposis, renal dysfunction and cholestasis syndrome.
Holme A et al.
Clinical Kidney Journal, 2013
Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.
Smith H et al.
Human Mutation, 2012
Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.
Cullinane AR et al.
Human Mutation, 2009
A novel VPS33B mutation in an ARC syndrome patient presenting with osteopenia and fractures at birth.
Taha D et al.
American Journal of Medical Genetics. Part A, 2007
Clinical and molecular genetic features of ARC syndrome.
Gissen P et al.
Human Genetics, 2006
Comparative evolutionary analysis of VPS33 homologues: genetic and functional insights.
Gissen P et al.
Human Molecular Genetics, 2005
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.
Gissen P et al.
Nature Genetics, 2004
[G6PD deficiency in a western area of Genoa. Genetic study of 4 new variants].
Perroni L et al.
La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics, 0
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