Hubert J.M. Smeets

Overview

Best Publications

• 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

  701
  Citations

• 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

  697
  Citations

• Cloning of the essential myotonic dystrophy region and mapping of the putative defect

  Aslanidis C;Jansen G;Amemiya C;Shutler G

  643
  Citations

• Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA–Haplogroup Background

  Gavin Hudson;Valerio Carelli;Valerio Carelli;Liesbeth Spruijt;Mike Gerards

  415
  Citations

• 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

  411
  Citations

• Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients.

  Aimée D. C. Paulussen;Ronaldus A. H. J. Gilissen;Martin Armstrong;Pieter A. Doevendans

  392
  Citations

• 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

  353
  Citations

• Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors

  J Zhou;T Mochizuki;H Smeets;C Antignac

  334
  Citations

• Age and causes of death in adult-onset myotonic dystrophy.

  C.E.M. de Die-Smulders;C.J. Höweler;C.T.M. Thijs;J.F. Mirandolle

  312
  Citations

• Mutations in the type IV collagen α3 (COL4A3) gene in autosomal recessive Alport syndrome

  Henny H. Lemmink;Toshlo MochlzukJ;Lambertus P.W.J. van den Heuvel;Cornells H. Schröder

  285
  Citations

• Benign familial hematuria due to mutation of the type IV collagen alpha4 gene.

  H H Lemmink;W N Nillesen;T Mochizuki;Cornelis Schröder

  270
  Citations

• A functional polymorphism of the mu-opioid receptor gene (OPRM1) influences cue-induced craving for alcohol in male heavy drinkers.

  Esther van den Wildenberg;Reinout W Wiers;Joelle Dessers;Rob G J H Janssen

  262
  Citations

• Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm.

  G Jansen;P Willems;M Coerwinkel;W Nillesen

  233
  Citations

• REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.

  Christian Beetz;Rebecca Schüle;Tine Deconinck;Khanh Nhat Tran-Viet

  211
  Citations

• Identification of an X-Chromosomal Locus and Haplotype Modulating the Phenotype of a Mitochondrial DNA Disorder

  Gavin Hudson;Sharon Keers;Patrick Yu Wai Man;Philip Griffiths

  208
  Citations

• How do changes in the mtDNA and mitochondrial dysfunction influence cancer and cancer therapy? Challenges, opportunities and models.

  M. W. van Gisbergen;A. M. Voets;M. H. W. Starmans;I. F. M. de Coo

  207
  Citations

• Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation.

  Frank T.L. Van Der Loop;Laurence Heidet;Erika D.J. Timmer;Bianca J.C. Van Den Bosch

  198
  Citations

• Normal phenotype in two brothers with a full FMR1 mutation

  H.J.M. Smeets;A.P.T. Smits;C.E. Verheij;J.P.G. Theelen

  195
  Citations

• Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis.

  K. Buiting;B. Dittrich;S. Gross;C. Lich

  187
  Citations

• MLL2 mutation spectrum in 45 patients with Kabuki syndrome.

  Aimee D. C. Paulussen;Alexander P. A. Stegmann;Marinus J. Blok;Demis Tserpelis

  178
  Citations