H
Hubert J.M. Smeets
Researcher at Maastricht University
Publications - 206
Citations - 9846
Hubert J.M. Smeets is an academic researcher from Maastricht University. The author has contributed to research in topics: Mitochondrial DNA & Heteroplasmy. The author has an hindex of 50, co-authored 195 publications receiving 8912 citations. Previous affiliations of Hubert J.M. Smeets include University of Kansas & Maastricht University Medical Centre.
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Journal ArticleDOI
Identification of Mutations in the Alpha-3(iv) and Alpha-4(iv) Collagen Genes in Autosomal Recessive Alport Syndrome
Toshio Mochizuki,Toshio Mochizuki,Henny H. Lemmink,Mariko Mariyama,Corinne Antignac,Marie-Claire Gubler,Yves Pirson,Christine Verellen-Dumoulin,Belinda Chan,Cornelis H. Schröder,Hubert J.M. Smeets,Stephen T. Reeders,Stephen T. Reeders +12 more
TL;DR: Alport syndrome is an hereditary disease of basement membranes characterized by progressive renal failure and deafness and there is an autosomal form of AS in addition to the previously-defined X-linked form, demonstrating that these chains are important in the structural integrity of the GBM.
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X-linked Alport Syndrome Natural History in 195 Families and Genotype- Phenotype Correlations in Males
Jean-Philippe Jais,Bertrand Knebelmann,Iannis Giatras,Mario De Marchi,Gianfranco Rizzoni,Alessandra Renieri,Manfred Weber,Oliver Gross,Kai-Olaf Netzer,Frances Flinter,Yves Pirson,Christine Verellen,Jörgen Wieslander,Ulf Persson,Karl Tryggvason,Paula Martin,Jens Michael Hertz,Cornelis H. Schröder,Marek Sanak,Sarka Krejcova,Maria Fernanda Carvalho,Juan Saus,Corinne Antignac,Hubert J.M. Smeets,Marie Claire Gubler +24 more
TL;DR: The natural history of X-linked AS and correlations with COL4A5 mutations have been established in a large cohort of male patients and these data could be used for further evaluation of therapeutic approaches.
Journal ArticleDOI
X-Linked Alport Syndrome: Natural History and Genotype-Phenotype Correlations in Girls and Women Belonging to 195 Families: A "European Community Alport Syndrome Concerted Action" study
Jean-Philippe Jais,Bertrand Knebelmann,Iannis Giatras,Mario De Marchi,Gianfranco Rizzoni,Alessandra Renieri,Manfred Weber,Oliver Gross,Kai-Olaf Netzer,Frances Flinter,Yves Pirson,Karin Dahan,Jörgen Wieslander,Ulf Persson,Karl Tryggvason,Paula Martin,Jens Michael Hertz,Cornelis H. Schröder,Marek Sanak,Maria Fernanda Carvalho,Juan Saus,Corinne Antignac,Hubert J.M. Smeets,Marie Claire Gubler +23 more
TL;DR: Because of the absence of genotype-phenotype correlation and the large intrafamilial phenotypic heterogeneity, early prognosis of the disease in X-linked Alport syndrome carriers remains moot.
Journal ArticleDOI
Auditory stimuli as a trigger for arrhythmic events differentiate HERG- related (LQTS2) patients from KVLQT1-related patients (LQTS1)
Arthur A.M. Wilde,Rosalie J.E. Jongbloed,Pieter A. Doevendans,Donald R. Düren,Richard N.W. Hauer,Irene M. van Langen,J. Peter van Tintelen,Hubert J.M. Smeets,Henk Meyer,Jan L.M.C Geelen +9 more
TL;DR: Whereas exercise-related cardiac events dominate the clinical picture of LQTS1 patients, auditory stimuli as a trigger for arrhythmic events were only seen in LQ TS2 patients, which suggests arrhythmic Events triggered by auditory stimuli may differentiate L QTS2 from LQts1 patients.
Journal ArticleDOI
Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients.
Aimee D C Paulussen,Ronaldus A. H. J. Gilissen,Martin Armstrong,Pieter A. Doevendans,Peter Verhasselt,Hubert J.M. Smeets,Eric Schulze-Bahr,Wilhelm Haverkamp,Giinter Breithardt,Nadine Cohen,Jeroen Aerssens +10 more
TL;DR: It is concluded that missense mutations in the examined cLQ TS genes explain only a minority of aLQTS cases, and are thus unlikely to significantly influence aL QTS susceptibility.