P. Duquesnoy

发表

Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.

S. Amselem, B. Crestani, B. Copin, 2016, American journal of human genetics.

Surfactant protein A: A key player in lung homeostasis.

S. Amselem, A. Clément, P. Duquesnoy, 2016, The international journal of biochemistry & cell biology.

A nonsense mutation in the human homolog of Drosophila rogdi causes Kohlschutter-Tonz syndrome.

H. Mandel, R. Gershoni-baruch, E. Dagan, 2012, American journal of human genetics.

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

J. Bernaudin, S. Amselem, P. Duquesnoy, 2019, PloS one.

PYPAF1 nonsense mutation in a patient with an unusual autoinflammatory syndrome: role of PYPAF1 in inflammation.

S. Amselem, P. Duquesnoy, T. Sarkisian, 2006, Arthritis and rheumatism.

Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever.

F. Roudot-thoraval, J. Kouyoumdjian, C. Cazeneuve, 2000, American journal of human genetics.

Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia

A. Rousseau, S. Amselem, H. Dollfus, 2012, Journal of Medical Genetics.

Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia

A. Rousseau, S. Amselem, A. Clément, 2012, Journal of Medical Genetics.

Haemorrhagic fever in Gabon. I. Incidence of Lassa, Ebola and Marburg viruses in Haut-Ogooué.

J. McCormick, J. Gonzalez, J. Saluzzo, 1982, Transactions of the Royal Society of Tropical Medicine and Hygiene.

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

Shane A. McCarthy, Richard D Emes, Klaudia Walter, 2017, Nature Communications.

Isolated growth hormone (GH) deficiency type 1A associated with a double deletion in the human GH gene cluster.

P. Czernichow, M. Goossens, P. Duquesnoy, 1986, The Journal of clinical endocrinology and metabolism.

RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes.

S. Amselem, A. Clément, B. Copin, 2015, American journal of human genetics.

Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia.

S. Amselem, A. Clément, B. Copin, 2012, American journal of human genetics.

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

J. Belmont, H. Zentgraf, J. Towbin, 2011, Nature Genetics.

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

S. Amselem, A. Clément, D. Escalier, 2009, American journal of human genetics.

Molecular genetics of Laron-type GH insensitivity syndrome.

S. Amselem, M. Goossens, P. Duquesnoy, 1993, Recent progress in hormone research.

Recurrent nonsense mutations in the growth hormone receptor from patients with Laron dwarfism.

B. Dallapiccola, S. Amselem, M. Goossens, 1991, The Journal of clinical investigation.

Molecular Defects in the Growth Hormone Receptor

S. Amselem, P. Duquesnoy, M. Sobrier, 1991, Acta paediatrica Scandinavica. Supplement.

The peculiar spectrum of β-thalassemia genes in Tunisia

M. Vidaud, M. Pirastu, M. Goossens, 1988, Human Genetics.

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

S. Amselem, A. Loyens, A. Schmitt, 2019, American journal of human genetics.

Role of interleukin-1β in NLRP12-associated autoinflammatory disorders and resistance to anti-interleukin-1 therapy.

S. Amselem, P. Duquesnoy, S. Normand, 2011, Arthritis and rheumatism.

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

S. Amselem, I. Melki, B. Copin, 2019, The Journal of allergy and clinical immunology.

Changes in serum IGF‐I and IGFBP‐3 concen_trations during the IGF‐I generation test performed prospectively in children with short stature

M. Savage, A. Cotterill, P. Duquesnoy, 1998, Clinical endocrinology.

The insulin‐like growth factor I generation test in the investigation of short stature

P. Duquesnoy, C. Martinelli, A. Cotterill, 1994, Acta paediatrica (Oslo, Norway : 1992). Supplement.

Frequent detection of minimal residual disease by use of the polymerase chain reaction in long-term survivors after bone marrow transplantation for chronic myeloid leukemia.

M. Vidaud, S. Amselem, C. Cordonnier, 1990, Leukemia.

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

Y. Barrandon, J. Uitto, A. Christiano, 1993, Nature Genetics.

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

S. Amselem, M. Goossens, P. Duquesnoy, 1996, Proceedings of the National Academy of Sciences of the United States of America.

Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD.

S. Liebhaber, S. Amselem, B. Stanger, 2016, Human Molecular Genetics.

10th Congress of International Society of Systemic Auto-Inflammatory Diseases (ISSAID)

S. Amselem, P. Duquesnoy, E. Grimprel, 2019, Pediatric Rheumatology.

Evolutionary divergence of the truncated growth hormone receptor isoform in its ability to generate a soluble growth hormone binding protein

S. Amselem, M. Goossens, P. Duquesnoy, 1998, Molecular and Cellular Endocrinology.

An exon‐skipping mutation in thebtk gene of a patient with X‐linked agammaglobulinemia and isolated growth hormone deficiency

S. Amselem, P. Bougnères, M. Goossens, 1994, FEBS letters.

Molecular basis of inherited growth hormone resistance in childhood.

S. Amselem, M. Goossens, P. Duquesnoy, 1996, Bailliere's clinical endocrinology and metabolism.

First Trimester Diagnosis of Genetic Diseases by DNA Analysis of Chorionic Villi: Preliminary Experience

P. Duquesnoy, M. Goossens, Y. Dumez, 1985 .

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

S. Amselem, M. Goossens, P. Duquesnoy, 1993, FEBS letters.

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.

M. Preece, S. Amselem, M. Savage, 1994, The EMBO journal.

The role of GHR and IGF1 genes in the genetic determination of African pygmies’ short stature

E. Heyer, S. Amselem, M. Georges, 2012, European Journal of Human Genetics.

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

M Goossens, L Dubertret, M. Lathrop, 1992, The Journal of clinical investigation.

Exclusion of linkage between the collagenase gene and generalized recessive dystrophic epidermolysis bullosa phenotype.

M. Lathrop, L. Dubertret, A. Hovnanian, 1991, The Journal of clinical investigation.

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

V. Drouin‐Garraud, A. Tassin, S. Amselem, 2020, American journal of human genetics.

Somatic mosaic NLRP3 mutations and inflammasome activation in late-onset chronic urticaria.

S. Amselem, B. Copin, E. El Khouri, 2020, The Journal of investigative dermatology.

Evaluation of parental mitochondrial inheritance in neonates born after intracytoplasmic sperm injection.

C. Cazeneuve, S. Amselem, W. Lissens, 1999, American journal of human genetics.

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

P. Chanson, M. Polak, S. Lyonnet, 2019, Human mutation.

Mutations in GAS8, a Gene Encoding a Nexin‐Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization

S. Amselem, A. Clément, I. Sermet-Gaudelus, 2016, Human mutation.

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

S. Amselem, Lucie Thomas, P. Duquesnoy, 2017, PloS one.

Characterization of SLC26A9 in Patients with CF‐Like Lung Disease

Annick Thomas, N. Farman, S. Amselem, 2013, Human mutation.

A naturally occurring growth hormone receptor mutation: in vivo and in vitro evidence for the functional importance of the WS motif common to all members of the cytokine receptor superfamily.

S. Amselem, M. Tixier-Boichard, M. Zeman, 1993, Molecular endocrinology.

Isolated Growth Hormone Deficiency Type IA Associated with a 45-Kilobase Gene Deletion within the Human Growth Hormone Gene Cluster in an Italian Family

S. Bernasconi, L. Ghizzoni, M. Goossens, 1994, Pediatric Research.

Species-specific Alternative Splice Mimicry at the Growth Hormone Receptor Locus Revealed by the Lineage of Retroelements during Primate Evolution

J. Pantel, S. Amselem, P. Duquesnoy, 2000, The Journal of Biological Chemistry.

Donor Dependent Variations in Hematopoietic Differentiation among Embryonic and Induced Pluripotent Stem Cell Lines

A. Bennaceur-Griscelli, N. Oudrhiri, P. Duquesnoy, 2016, PloS one.

Laron dwarfism and mutations of the growth hormone-receptor gene.

G. Novelli, S. Amselem, M. Goossens, 1989, The New England journal of medicine.

Subcellular localisation of marenostrin/pyrin isoforms carrying the most common mutations involved in familial Mediterranean fever in the presence or absence of its binding partner ASC

C. Cazeneuve, S. Amselem, P. Duquesnoy, 2004, Journal of Medical Genetics.

The Tumor Necrosis Factor α-dependent Activation of the Human Mediterranean Fever (MEFV) Promoter Is Mediated by a Synergistic Interaction between C/EBPβ and NFκB p65*

C. Cazeneuve, S. Amselem, D. Sahali, 2003, Journal of Biological Chemistry.

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

B. Housset, S. Amselem, R. Epaud, 2013, American journal of human genetics.

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

S. Amselem, B. Copin, S. Chantot-Bastaraud, 2019, ACR open rheumatology.

Oriented Scanning Is the Leading Mechanism Underlying 5′ Splice Site Selection in Mammals

S. Amselem, K. Borensztajn, P. Duquesnoy, 2006, PLoS genetics.

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

S. Amselem, J. Bercher, D. Escalier, 2007, Proceedings of the National Academy of Sciences.

The Risk of Familial Mediterranean Fever in MEFV Heterozygotes: A Statistical Approach

S. Amselem, P. Duquesnoy, E. Grimprel, 2013, PloS one.

Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4.

P. Czernichow, J. Pantel, S. Amselem, 2001, American journal of human genetics.

Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancer.

S. Amselem, L. Gouya, A. Clément, 2016, Human molecular genetics.

Germline SFTPA 1 mutation in familial idiopathic interstitial pneumonia and lung cancer

S. Amselem, L. Gouya, A. Clément, 2016 .

Interaction of pyrin with 14.3.3 in an isoform-specific and phosphorylation-dependent manner regulates its translocation to the nucleus.

J. Camonis, C. Cazeneuve, S. Amselem, 2005, Arthritis and rheumatism.

Amyloidosis and auto-inflammatory syndromes.

N. Ravet, L. Cuisset, C. Cazeneuve, 2005, Current drug targets. Inflammation and allergy.

Mutations in NALP12 cause hereditary periodic fever syndromes

S. Marlin, E. Alnemri, T. Fernandes-Alnemri, 2008, Proceedings of the National Academy of Sciences.

SPECTRUM OF GROWTH HORMONE RECEPTOR MUTATIONS AND ASSOCIATED HAPLOTYPES IN LARON SYNDROME

S. Amselem, M. Goossens, P. Duquesnoy, 1993, Pediatric Research.

[Molecular genetics of growth hormone resistance syndrome].

S. Amselem, M. Goossens, P. Duquesnoy, 1992, Comptes rendus des seances de la Societe de biologie et de ses filiales.

Molecular basis of Laron dwarfism

S. Amselem, M. Goossens, P. Duquesnoy, 1991, Trends in Endocrinology & Metabolism.

Defective membrane expression of human growth hormone (GH) receptor causes Laron-type GH insensitivity syndrome.

S. Amselem, M. Goossens, P. Duquesnoy, 1991, Proceedings of the National Academy of Sciences of the United States of America.

Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients

D. Larizza, M. Maghnie, M. Polak, 2016, The Journal of clinical endocrinology and metabolism.

The tumor necrosis factor alpha-dependent activation of the human mediterranean fever (MEFV) promoter is mediated by a synergistic interaction between C/EBP beta and NF kappaB p65.

C. Cazeneuve, S. Amselem, D. Sahali, 2003, Journal of Biological Chemistry.

Alternative splicing at the MEFV locus involved in familial Mediterranean fever regulates translocation of the marenostrin/pyrin protein to the nucleus.

J. Pantel, C. Cazeneuve, S. Amselem, 2000, Human molecular genetics.

Involvement of the Modifier Gene of a Human Mendelian Disorder in a Negative Selection Process

S. Amselem, P. Duquesnoy, J. Feingold, 2009, PloS one.

Nine novel growth hormone receptor gene mutations in patients with Laron syndrome.

S. Amselem, M. Goossens, P. Duquesnoy, 1997, The Journal of clinical endocrinology and metabolism.

Involvement of the Same TNFR1 Residue in Mendelian and Multifactorial Inflammatory Disorders

S. Amselem, C. Dodé, B. Copin, 2013, PloS one.

Identification and functional consequences of a recurrent NLRP12 missense mutation in periodic fever syndromes.

S. Amselem, P. Duquesnoy, T. Sarkisian, 2011, Arthritis and rheumatism.

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

S. Leroy, J. Dalphin, A. Cazes, 2020, European Respiratory Journal.

Functional consequences of a germline mutation in the leucine-rich repeat domain of NLRP3 identified in an atypical autoinflammatory disorder.

E. Alnemri, L. Cuisset, S. Amselem, 2010, Arthritis and rheumatism.

Long‐Lasting Catch‐up Growth under Bio‐Methionyl Growth Hormone Treatment in an Infant with Isolated Growth Hormone Deficiency Type 1A 1

F. Lombardo, M. Goossens, P. Duquesnoy, 1991, Acta paediatrica Scandinavica.

Brief Report: Involvement of TNFRSF11A Molecular Defects in Autoinflammatory Disorders

S. Amselem, L. Faivre, B. Copin, 2014, Arthritis & rheumatology.

Human Prop‐1: cloning, mapping, genomic structure

C. Teinturier, S. Amselem, J. Chaussain, 1998, FEBS letters.

Ciliary defects and genetics of primary ciliary dyskinesia.

S. Amselem, J. Papon, P. Duquesnoy, 2009, Paediatric respiratory reviews.

Mutations in familial combined pituitary hormone de¢ciency 1

S. Amselem, M. Goossens, P. Duquesnoy, 1998 .

RNF213-associated urticarial lesions with hypercytokinemia.

S. Amselem, O. Chosidow, P. de la Grange, 2022, The Journal of allergy and clinical immunology.

Hypomorphic pathogenic variant in SFTPB leads to adult pulmonary fibrosis

S. Amselem, G. Prévot, A. Coulomb, 2023, European Journal of Human Genetics.