Dicky J. J. Halley

Overview

Best Publications

• Identification and characterization of the tuberous sclerosis gene on chromosome 16

  Mark Nellist;Bart Janssen;Phillip T. Brook-Carter;Arjenne L. W. Hesseling-Janssen

  2172
  Citations

• Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

  Marjon van Slegtenhorst;Ronald de Hoogt;Caroline Hermans;Mark Nellist

  1817
  Citations

• THE POLYCYSTIC KIDNEY-DISEASE-1 GENE ENCODES A 14-KB TRANSCRIPT AND LIES WITHIN A DUPLICATED REGION ON CHROMOSOME-16

  Christopher Ward;Belén Peral;Jim Hughes;Siep Thomas

  1143
  Citations

• Identification of the familial cylindromatosis tumour-suppressor gene.

  Graham R. Bignell;William Warren;Sheila Seal;Meiko Takahashi

  833
  Citations

• Interaction Between Hamartin and Tuberin, the TSC1 and TSC2 Gene Products

  Marjon van Slegtenhorst;Mark Nellist;Bas Nagelkerken;Jeremy Cheadle

  655
  Citations

• Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex

  Ozgur Sancak;Mark Nellist;Miriam Goedbloed;Peter Elfferich

  568
  Citations

• Phosphatidylinositol 3-Kinase/Akt Pathway Regulates Tuberous Sclerosis Tumor Suppressor Complex by Phosphorylation of Tuberin

  Han C. Dan;Mei Sun;Lin Yang;Richard I. Feldman

  458
  Citations

• The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination

  Giovanna Benvenuto;Shaowei Li;Samantha J. Brown;Richard Braverman

  308
  Citations

• The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature

  Marije E.C. Meuwissen;Dicky J.J. Halley;Liesbeth S. Smit;Maarten H. Lequin

  301
  Citations

• Screening and Diagnosis for the Fragile X Syndrome Among the Mentally Retarded: An Epidemiological and Psychological Survey

  Bert B. A. de Vries;Ans M. W. van den Ouweland;Serieta Mohkamsing;Hugo J. Duivenvoorden

  286
  Citations

• 17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations.

  Alm Boehmer;AO Brinkmann;LA Sandkuijl;Djj Halley

  237
  Citations

• Characterization of the cytosolic tuberin-hamartin complex. Tuberin is a cytosolic chaperone for hamartin.

  Mark Nellist;Marjon A. van Slegtenhorst;Miriam Goedbloed;Ans M.W. van den Ouweland

  228
  Citations

• High rate of mosaicism in tuberous sclerosis complex.

  Senno Verhoef;Lida Bakker;Anita M.P. Tempelaars;Arjenne L.W. Hesseling-Janssen

  227
  Citations

• Broad spectrum of Pompe disease in patients with the same c.-32-13T→G haplotype

  M. A. Kroos;R. J. Pomponio;M. L. Hagemans;J.L.M. Keulemans

  220
  Citations

• Chloride conductance and genetic background modulate the cystic fibrosis phenotype of ΔF508 homozygous twins and siblings

  Inez Bronsveld;Frauke Mekus;Jan Bijman;Manfred Ballmann

  212
  Citations

• A Cystic Fibrosis Mutation Associated with Mild Lung Disease

  Kh Gan;Hj Veeze;Amw Vandenouweland;Djj Halley

  199
  Citations

• The Spectrum of Mutations in UBE3A Causing Angelman Syndrome

  Ping Fang;Efrat Lev-Lehman;Ting Fen Tsai;Toshinobu Matsuura;Toshinobu Matsuura

  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

• Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating

  Marian Kroos;Robert J. Pomponio;Laura van Vliet;Rachel E. Palmer

  186
  Citations

• The TSC1 gene product, hamartin, negatively regulates cell proliferation

  Angelina Miloloza;Margit Rosner;Mark Nellist;Dicky Halley

  179
  Citations