Marie-Claire Gubler

Best Publications

• NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome

  Nicolas Boute;Olivier Gribouval;Séverine Roselli

  1774
  Citations

• Donor splice-site mutations in WT1 are responsible for Frasier syndrome.

  Sandrine Barbaux;Patrick Niaudet;Marie-Claire Gubler;Jean-Pierre Grünfeld

  983
  Citations

• Two Splice Variants of the Wilms' Tumor 1 Gene Have Distinct Functions during Sex Determination and Nephron Formation

  Annette Hammes;Jian-Kan Guo;Gudrun Lutsch;Joerg-Robert Leheste

  731
  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

• Podocin localizes in the kidney to the slit diaphragm area.

  Séverine Roselli;Olivier Gribouval;Nicolas Boute;Mireille Sich

  443
  Citations

• WT1 is a key regulator of podocyte function: reduced expression levels cause crescentic glomerulonephritis and mesangial sclerosis

  Jian-Kan Guo;Aswin Menke;Marie-Claire Gubler;Alan Richard Clarke

  335
  Citations

• Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome

  Lekbir Baala;Sophie Audollent;Jéléna Martinovic;Catherine Ozilou

  334
  Citations

• Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database

  C. Jeanpierre;E. Denamur;I. Henry;M.-O. Cabanis

  314
  Citations

• INF2 Mutations in Charcot–Marie–Tooth Disease with Glomerulopathy

  Olivia Boyer;Fabien Nevo;Emmanuelle Plaisier;Benoit Funalot

  306
  Citations

• The Meckel-Gruber Syndrome Gene, MKS3, Is Mutated in Joubert Syndrome

  Lekbir Baala;Stéphane Romano;Rana Khaddour;Sophie Saunier

  272
  Citations

• Genetic heterogeneity of Alport syndrome.

  Josué Feingold;Etienne Bois;Agnès Chompert;Michel Broyer

  264
  Citations

• Early renal changes in hemizygous and heterozygous patients with Fabry's disease

  Marie-Claire Gubler;Gérard Lenoir;Jean-Pierre Grünfeld;André Ulmann

  261
  Citations

• Dense deposit disease: a variant of membranoproliferative glomerulonephritis.

  Renée Habib;Marie-Claire Gubler;Chantal Loirat;H. Ben Maïz

  260
  Citations

• Idiopathic membranoproliferative glomerulonephritis in children. Report of 105 cases.

  Habib R;Kleinknecht C;Gubler Mc;Levy M

  246
  Citations

• Expression of the Nonmuscle Myosin Heavy Chain IIA in the Human Kidney and Screening for MYH9 Mutations in Epstein and Fechtner Syndromes

  Christelle Arrondel;Nicolas Vodovar;Bertrand Knebelmann;Jean-Pierre Grünfeld

  240
  Citations

• The nephropathy associated with male pseudohermaphroditism and Wilms' tumor (Drash syndrome): a distinctive glomerular lesion--report of 10 cases.

  R Habib;C Loirat;M C Gubler;P Niaudet

  228
  Citations

• Autosomal recessive Alport syndrome: Immunohistochemical study of type IV collagen chain distribution

  Marie-Claire Gubler;Bertrand Knebelmann;Agnès Beziau;Michel Broyer

  221
  Citations

• WT1 and glomerular diseases

  Patrick Niaudet;Marie-Claire Gubler

  217
  Citations

• Nail-patella syndrome. Overview on clinical and molecular findings

  Ernie M H F Bongers;Marie-Claire Gubler;Nine V A M Knoers

  199
  Citations

• WT1 is a key regulator of podocyte function

  Jian-Kan Guo;Aswin L Menke;Marie-Claire Gubler;Alan Clarke

  2
  Citations