Philippe Duquesnoy

Overview

Best Publications

• Mutations in NALP12 cause hereditary periodic fever syndromes

  I. Jéru;P. Duquesnoy;T. Fernandes-Alnemri;E. Cochet

  412
  Citations

• Laron Dwarfism and Mutations of the Growth Hormone–Receptor Gene

  Serge Amselem;Philippe Duquesnoy;Olivier Attree;Giuseppe Novelli

  403
  Citations

• CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

  Anne-Christine Merveille;Erica E Davis;Anita Becker-Heck;Anita Becker-Heck;Marie Legendre

  388
  Citations

• Syndromic Short Stature in Patients with a Germline Mutation in the LIM Homeobox LHX4

  Kalotina Machinis;Jacques Pantel;Irène Netchine;Juliane Léger

  376
  Citations

• Identification of MEFV-Independent Modifying Genetic Factors for Familial Mediterranean Fever

  Cécile Cazeneuve;Hasmik Ajrapetyan;Stéphanie Papin;Françoise Roudot-Thoraval

  337
  Citations

• Species-specific alternative splice mimicry at the growth hormone receptor locus revealed by the lineage of retroelements during primate evolution.

  Jacques Pantel;Kalotina Machinis;Marie-Laure Sobrier;Philippe Duquesnoy

  315
  Citations

• Alternatively spliced forms in the cytoplasmic domain of the human growth hormone (GH) receptor regulate its ability to generate a soluble GH-binding protein.

  Florence Dastot;Marie-Laure Sobrier;Philippe Duquesnoy;Benedicte Duriez

  223
  Citations

• A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia.

  Bénédicte Duriez;Philippe Duquesnoy;Estelle Escudier;Anne-Marie Bridoux

  223
  Citations

• A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH-binding activity by abolishing receptor homodimerization.

  P. Duquesnoy;M.L. Sobrier;B. Duriez;F. Dastot

  220
  Citations

• Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.

  Esther Kott;Marie Legendre;Bruno Copin;Jean-François Papon

  207
  Citations

• Loss-of-Function Mutations in LRRC6, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary Dyskinesia

  Esther Kott;Philippe Duquesnoy;Bruno Copin;Marie Legendre

  199
  Citations

• Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene.

  Alain Hovnanian;Philippe Duquesnoy;Claudine Blanchet-Bardon;Robert G. Knowlton

  192
  Citations

• Impact of human monocyte and macrophage polarization on NLR expression and NLRP3 inflammasome activation

  Fawaz Awad;Eman Assrawi;Claire Jumeau;Sophie Georgin-Lavialle

  190
  Citations

• Expression and binding properties of two isoforms of the human growth hormone receptor.

  Marie-Laure Sobrier;Philippe Duquesnoy;Bénédicte Duriez;Serge Amselem

  178
  Citations

• Human Prop‐1: cloning, mapping, genomic structure

  Philippe Duquesnoy;Anne Roy;Florence Dastot;Isis Ghali

  177
  Citations

• Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia.

  Philippe Duquesnoy;Estelle Escudier;Laetitia Vincensini;Laetitia Vincensini;Judy Freshour

  176
  Citations

• A homozygous insertion–deletion in the type VII collagen gene (COL7A1) in Hallopeau–Siemens dystrophic epidermolysis bullosa

  Hilal L;Rochat A;Duquesnoy P;Blanchet-Bardon C

  173
  Citations

• Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome

  Serge Amselem;Philippe Duquesnoy;Bénédicte Duriez;Florence Dastot

  154
  Citations

• Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia.

  Marjorie Whitfield;Marjorie Whitfield;Marjorie Whitfield;Lucie Thomas;Emilie Bequignon;Alain Schmitt;Alain Schmitt;Alain Schmitt

  152
  Citations

• X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

  Chiara Olcese;Chiara Olcese;Mitali P. Patel;Amelia Shoemark;Santeri Kiviluoto

  149
  Citations