Results 171 to 180 of about 3,078 (183)

Rearrangements of the ABCC6 gene in Italian patients with PXE

2011
The objective of this study was to search for the deletion of exon 24 and exons 24-27 that had been previously reported in Italian patients affected by pseudoxanthoma elasticum, anb autosomal recessive disorder characterized by calcification and fragmentation of elastic fibers as a conseguence of mutations in the ABCC6 gene.
GUERRA, Deanna, COSTA, SONIA, J. ROGGIANI, RABACCHI, CLAUDIO, CALANDRA BUONAURA, Sebastiano, I. PASQUALI RONCHETTI, QUAGLINO, Daniela   +6 more
openaire   +1 more source

ABCC6 and CKD: The Phenotypic Expansion of Pseudoxanthoma Elasticum

Journal of the American Society of Nephrology, 2023
Clara Schott, Cadence Baker, Samantha Colaiacovo, Dervla M. Connaughton   +3 more
openaire   +1 more source

ABCC6 et biominéralisation rénale et vasculaire

La survenue de calcifications ectopiques est un problème majeur de santé publique. Les calculs rénaux notamment affectent 10 % de la population générale et peuvent avoir de multiples complications pouvant aller jusqu’à l’insuffisance rénale chronique terminale. Les calculs de type « oxalo-calciques » sont les plus fréquents.
openaire   +1 more source

Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum

Human Genetics, 2001
Jouni Uitto, Leena Pulkkinen, Franziska Ringpfeil   +2 more
exaly  

Mutational analysis of theABCC6 gene and the proximalABCC6 gene promoter in German patients with pseudoxanthoma elasticum (PXE)

Human Mutation, 2006
Doris Hendig
exaly  

Contribution ofABCC6 genomic rearrangements to the diagnosis of pseudoxanthoma elasticum in French patients

Human Mutation, 2007
Alain Hovnanian
exaly  

Copy number variation in the ATP‐binding cassette transporter ABCC6 gene and ABCC6 pseudogenes in patients with pseudoxanthoma elasticum

Molecular Genetics & Genomic Medicine, 2015
Sharon F Terry, Doris Hendig, Jens P Berg   +2 more
exaly  

Immunohistochemical characterization of elastofibroma and exclusion of ABCC6 as a predisposing gene

British Journal of Dermatology, 2007
M, Naouri, P, Michenet, N, Chassaing, L, Martin   +3 more
openaire   +2 more sources

Analysis of the Frequent R1141X Mutation in theABCC6Gene in Pseudoxanthoma Elasticum

2003
Ronald Peek, Arthur Bergen, Paulus T V M de Jong   +2 more
exaly  

Mutation spectrum in the ABCC6 gene and genotype–phenotype correlations in a French cohort with pseudoxanthoma elasticum

Genetics in Medicine, 2017
Anne Legrand, Xavier Jeunemaitre, Boris Keren   +2 more
exaly