Philippe Duquesnoy

Paris, 75012, France

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 30 publications

Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia.

Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia.

Journal: Journal of medical genetics
Published: October 19, 2023

Hypomorphic pathogenic variant in SFTPB leads to adult pulmonary fibrosis.

Hypomorphic pathogenic variant in SFTPB leads to adult pulmonary fibrosis.

Journal: European journal of human genetics : EJHG
Published: December 12, 2022

RNF213-associated urticarial lesions with hypercytokinemia.

RNF213-associated urticarial lesions with hypercytokinemia.

Journal: The Journal of allergy and clinical immunology
Published: November 16, 2021

Functional assessment and phenotypic heterogeneity of SFTPA1 and SFTPA2 mutations in interstitial lung diseases and lung cancer.

Functional assessment and phenotypic heterogeneity of SFTPA1 and SFTPA2 mutations in interstitial lung diseases and lung cancer.

Journal: The European respiratory journal
Published: April 26, 2020

The NLRP3 p.A441V Mutation in NLRP3-AID Pathogenesis: Functional Consequences, Phenotype-Genotype Correlations and Evidence for a Recurrent Mutational Event.

The NLRP3 p.A441V Mutation in NLRP3-AID Pathogenesis: Functional Consequences, Phenotype-Genotype Correlations and Evidence for a Recurrent Mutational Event.

Journal: ACR open rheumatology
Published: November 29, 2019

TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella.

TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella.

Journal: American journal of human genetics
Published: October 11, 2019

NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations.

NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations.

Journal: The Journal of allergy and clinical immunology
Published: September 24, 2019

Somatic Mosaic NLRP3 Mutations and Inflammasome Activation in Late-Onset Chronic Urticaria.

Somatic Mosaic NLRP3 Mutations and Inflammasome Activation in Late-Onset Chronic Urticaria.

Journal: The Journal of investigative dermatology
Published: March 05, 2019

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

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

Journal: American journal of human genetics
Published: March 03, 2019

Expression of SAA1, SAA2 and SAA4 genes in human primary monocytes and monocyte-derived macrophages.

Expression of SAA1, SAA2 and SAA4 genes in human primary monocytes and monocyte-derived macrophages.

Journal: PloS one
Published: October 27, 2018

Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations.

Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations.

Journal: Human mutation
Published: August 13, 2018

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

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

Journal: PloS one
Published: December 13, 2016
Showing 1-12 of 30

Last Updated: 09/26/2026