Christine Bole-Feysot

Overview

Best Publications

• Prolactin (PRL) and Its Receptor: Actions, Signal Transduction Pathways and Phenotypes Observed in PRL Receptor Knockout Mice

  Christine Bole-Feysot;Vincent Goffin;Marc Edery;Nadine Binart

  2564
  Citations

• Targeted therapy in patients with PIK3CA-related overgrowth syndrome

  Quitterie Venot;Thomas Blanc;Thomas Blanc;Thomas Blanc;Smail Hadj Rabia;Smail Hadj Rabia;Laureline Berteloot

  492
  Citations

• ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

  Shazia Ashraf;Heon Yung Gee;Stephanie Woerner;Stephanie Woerner;Letian X. Xie

  369
  Citations

• A human immunodeficiency caused by mutations in the PIK3R1 gene

  Marie-Céline Deau;Lucie Heurtier;Pierre Frange;Felipe Suarez

  346
  Citations

• Fgf9 and FGF20 maintain the stemness of nephron progenitors in mice and man

  Hila Barak;Sung Ho Huh;Shuang Chen;Cécile Jeanpierre;Cécile Jeanpierre

  310
  Citations

• Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

  Jan Halbritter;Albane A. Bizet;Miriam Schmidts;Jonathan D. Porath

  276
  Citations

• Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

  Cecilie Bredrup;Sophie Saunier;Sophie Saunier;MacHteld M. Oud;Torunn Fiskerstrand;Torunn Fiskerstrand

  265
  Citations

• KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

  Audrey Putoux;Sophie Thomas;Karlien L.M. Coene;Erica E. Davis

  260
  Citations

• Bacterial ClpB heat-shock protein, an antigen-mimetic of the anorexigenic peptide α-MSH, at the origin of eating disorders

  N Tennoune;N Tennoune;P Chan;J Breton;J Breton;R. Legrand;R. Legrand

  257
  Citations

• Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias

  Carine Le Goff;Clémentine Mahaut;Lauren W Wang;Slimane Allali

  229
  Citations

• Increased Proteasome-Mediated Degradation of Occludin in Irritable Bowel Syndrome

  Moïse Coëffier;Romain Gloro;Nabile Boukhettala;Moutaz Aziz

  219
  Citations

• Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.

  Isabelle Perrault;Sophie Saunier;Sylvain Hanein;Emilie Filhol

  217
  Citations

• B cell depletion in immune thrombocytopenia reveals splenic long-lived plasma cells.

  Matthieu Mahévas;Pauline Patin;François Huetz;Marc Descatoire

  211
  Citations

• Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome

  Tenzin Gayden;Fernando E. Sepulveda;Dong-Anh Khuong-Quang;Dong-Anh Khuong-Quang;Jonathan Pratt

  192
  Citations

• TTC7A mutations disrupt intestinal epithelial apicobasal polarity

  Amélie E. Bigorgne;Henner F. Farin;Roxane Lemoine;Nizar Mahlaoui

  188
  Citations

• Improving Mutation Screening in Familial Hematuric Nephropathies through Next Generation Sequencing

  Vincent Morinière;Karin Dahan;Pascale Hilbert;Marieline Lison

  169
  Citations

• Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.

  Sandrine Vuillaumier-Barrot;Céline Bouchet-Séraphin;Malika Chelbi;Louise Devisme

  164
  Citations

• Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation

  Aude Magerus-Chatinet;Bénédicte Neven;Marie Claude Stolzenberg;Cécile Daussy

  159
  Citations

• TCTN3 Mutations Cause Mohr-Majewski Syndrome

  Sophie Thomas;Sophie Thomas;Marine Legendre;Sophie Saunier;Sophie Saunier;Bettina Bessières

  156
  Citations

• De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

  Christopher T. Gordon;Christopher T. Gordon;Shifeng Xue;Gökhan Yigit;Hicham Filali;Hicham Filali;Hicham Filali

  139
  Citations