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Philippe Duquesnoy | doi.page

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Philippe Duquesnoy

Inserm(FR)Sorbonne Université(FR)Hôpital Armand-Trousseau(FR)Maladies génétiques d’expression pédiatrique

Publications by Year

Research Areas

Growth Hormone and Insulin-like Growth Factors, Inflammasome and immune disorders, Neonatal Respiratory Health Research, Cystic Fibrosis Research Advances, Genetic and Kidney Cyst Diseases

Most-Cited Works

→ Mutations in NALP12 cause hereditary periodic fever syndromes(2008)365 cited
→ CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs(2010)340 cited
→ Laron Dwarfism and Mutations of the Growth Hormone–Receptor Gene(1989)316 cited
→ Syndromic Short Stature in Patients with a Germline Mutation in the LIM Homeobox LHX4(2001)273 cited
→ Species-specific Alternative Splice Mimicry at the Growth Hormone Receptor Locus Revealed by the Lineage of Retroelements during Primate Evolution(2000)200 cited
→ Identification of MEFV-Independent Modifying Genetic Factors for Familial Mediterranean Fever(2000)197 cited

→ A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia(2007)

191 cited

→ Loss-of-Function Mutations in LRRC6 , a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary Dyskinesia(2012)188 cited

→ Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia(2019)183 cited

→ Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects(2013)180 cited