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

ανά Duquesnoy, P, Sobrier, M L, Amselem, S, Goossens, M
Έκδοση 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...

ανά Cazeneuve, C, Papin, S, Jeru, I, Duquesnoy, P, Amselem, S
Έκδοση 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.

ανά Dastot, F, Sobrier, M L, Duquesnoy, P, Duriez, B, Goossens, M, Amselem, S
Έκδοση 1996

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

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

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

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

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

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

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

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

OR2-002 – The risk of FMF in MEFV heterozygotes

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

P02-014 - Consequences of Arginine 92 mutations in TNFR1

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

ανά 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
Έκδοση 1994

OR13-003 - TNFRSF11A molecular defects cause autoinflammatory disorders

ανά 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
Έκδοση 2013

Mutations in NALP12 cause hereditary periodic fever syndromes

ανά 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.
Έκδοση 2008

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

ανά 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
Έκδοση 2012