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

von Duquesnoy, P, Sobrier, M L, Amselem, S, Goossens, M
Veröffentlicht 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...

von Cazeneuve, C, Papin, S, Jeru, I, Duquesnoy, P, Amselem, S
Veröffentlicht 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.

von Dastot, F, Sobrier, M L, Duquesnoy, P, Duriez, B, Goossens, M, Amselem, S
Veröffentlicht 1996

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

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

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

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

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

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

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

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

OR2-002 – The risk of FMF in MEFV heterozygotes

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

P02-014 - Consequences of Arginine 92 mutations in TNFR1

von Jéru, I, Charmion, S, Cochet, E, Copin, B, Le Borgne, G, Cathebras, P, Gaillat, J, Duquesnoy, P, Karabina, S, Hentgen, V, Amselem, S
Veröffentlicht 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...

von 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
Veröffentlicht 1994

OR13-003 - TNFRSF11A molecular defects cause autoinflammatory disorders

von 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
Veröffentlicht 2013

Mutations in NALP12 cause hereditary periodic fever syndromes

von 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.
Veröffentlicht 2008

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

von 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
Veröffentlicht 2012