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

Tekijä Duquesnoy, P, Sobrier, M L, Amselem, S, Goossens, M
Julkaistu 1991

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...

Tekijä Cazeneuve, C, Papin, S, Jeru, I, Duquesnoy, P, Amselem, S
Julkaistu 2004

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

Tekijä Dastot, F, Sobrier, M L, Duquesnoy, P, Duriez, B, Goossens, M, Amselem, S
Julkaistu 1996

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

Tekijä Hovnanian, A, Duquesnoy, P, Amselem, S, Blanchet-Bardon, C, Lathrop, M, Dubertret, L, Goossens, M
Julkaistu 1991

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

Tekijä Amselem, S, Sobrier, M L, Duquesnoy, P, Rappaport, R, Postel-Vinay, M C, Gourmelen, M, Dallapiccola, B, Goossens, M
Julkaistu 1991

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

Tekijä Danan, C, Sternberg, D, Van Steirteghem, A, Cazeneuve, C, Duquesnoy, P, Besmond, C, Goossens, M, Lissens, W, Amselem, S
Julkaistu 1999

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

Tekijä Hovnanian, A, Duquesnoy, P, Blanchet-Bardon, C, Knowlton, R G, Amselem, S, Lathrop, M, Dubertret, L, Uitto, J, Goossens, M
Julkaistu 1992

OR2-002 – The risk of FMF in MEFV heterozygotes

Tekijä Jéru, I, Hentgen, V, Cochet, E, Duquesnoy, P, Le Borgne, G, Grimprel, E, Stojanovic, K Stankovic, Karabina, S, Grateau, G, Amselem, S
Julkaistu 2013

P02-014 - Consequences of Arginine 92 mutations in TNFR1

Tekijä Jéru, I, Charmion, S, Cochet, E, Copin, B, Le Borgne, G, Cathebras, P, Gaillat, J, Duquesnoy, P, Karabina, S, Hentgen, V, Amselem, S
Julkaistu 2013

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 activit...

Tekijä Duquesnoy, P, Sobrier, M L, Duriez, B, Dastot, F, Buchanan, C R, Savage, M O, Preece, M A, Craescu, C T, Blouquit, Y, Goossens, M
Julkaistu 1994

OR13-003 - TNFRSF11A molecular defects cause autoinflammatory disorders

Tekijä Jéru, I, Cochet, E, Duquesnoy, P, Hentgen, V, Copin, B, Mitjavila-Garcia, M, Sheykholeslami, S, Le Borgne, G, Dastot, F, Karabina, S, Mahevas, M, Chantot-Bastaraud, S, Faivre, L, Amselem, S
Julkaistu 2013

Mutations in NALP12 cause hereditary periodic fever syndromes

Tekijä Jéru, I., Duquesnoy, P., Fernandes-Alnemri, T., Cochet, E., Yu, J. W., Lackmy-Port-Lis, M., Grimprel, E., Landman-Parker, J., Hentgen, V., Marlin, S., McElreavey, K., Sarkisian, T., Grateau, G., Alnemri, E. S., Amselem, S.
Julkaistu 2008

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

Tekijä Legendre, M, Blanchon, S, Copin, B, Duquesnoy, P, Montantin, G, Kott, E, Dastot, F, Jeanson, L, Cachanado, M, Rousseau, A, Papon, JF, Tamalet, A, Vojtek, AM, Escalier, D, Coste, A, de Blic, J, Clément, A, Escudier, E, Amselem, S
Julkaistu 2012