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

Yazar: Duquesnoy, P, Sobrier, M L, Amselem, S, Goossens, M
Baskı/Yayın Bilgisi 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...

Yazar: Cazeneuve, C, Papin, S, Jeru, I, Duquesnoy, P, Amselem, S
Baskı/Yayın Bilgisi 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.

Yazar: Dastot, F, Sobrier, M L, Duquesnoy, P, Duriez, B, Goossens, M, Amselem, S
Baskı/Yayın Bilgisi 1996

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

Yazar: Hovnanian, A, Duquesnoy, P, Amselem, S, Blanchet-Bardon, C, Lathrop, M, Dubertret, L, Goossens, M
Baskı/Yayın Bilgisi 1991

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

Yazar: Amselem, S, Sobrier, M L, Duquesnoy, P, Rappaport, R, Postel-Vinay, M C, Gourmelen, M, Dallapiccola, B, Goossens, M
Baskı/Yayın Bilgisi 1991

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

Yazar: Danan, C, Sternberg, D, Van Steirteghem, A, Cazeneuve, C, Duquesnoy, P, Besmond, C, Goossens, M, Lissens, W, Amselem, S
Baskı/Yayın Bilgisi 1999

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

Yazar: Hovnanian, A, Duquesnoy, P, Blanchet-Bardon, C, Knowlton, R G, Amselem, S, Lathrop, M, Dubertret, L, Uitto, J, Goossens, M
Baskı/Yayın Bilgisi 1992

OR2-002 – The risk of FMF in MEFV heterozygotes

Yazar: Jéru, I, Hentgen, V, Cochet, E, Duquesnoy, P, Le Borgne, G, Grimprel, E, Stojanovic, K Stankovic, Karabina, S, Grateau, G, Amselem, S
Baskı/Yayın Bilgisi 2013

P02-014 - Consequences of Arginine 92 mutations in TNFR1

Yazar: Jéru, I, Charmion, S, Cochet, E, Copin, B, Le Borgne, G, Cathebras, P, Gaillat, J, Duquesnoy, P, Karabina, S, Hentgen, V, Amselem, S
Baskı/Yayın Bilgisi 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...

Yazar: 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
Baskı/Yayın Bilgisi 1994

OR13-003 - TNFRSF11A molecular defects cause autoinflammatory disorders

Yazar: 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
Baskı/Yayın Bilgisi 2013

Mutations in NALP12 cause hereditary periodic fever syndromes

Yazar: 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.
Baskı/Yayın Bilgisi 2008

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

Yazar: 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
Baskı/Yayın Bilgisi 2012