Sex Chromosome Genetics '99. Male infertility and the Y chromosome.

av McElreavey, K, Krausz, C
Publicerad 1999

New Technologies for the Identification of Novel Genetic Markers of Disorders of Sex Development (DSD)

av Bashamboo, A., Ledig, S., Wieacker, P., Achermann, J., McElreavey, K.
Publicerad 2010

A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development.

av McElreavey, K, Vilain, E, Abbas, N, Herskowitz, I, Fellous, M
Publicerad 1993

Familial case with sequence variant in the testis-determining region associated with two sex phenotypes.

av Vilain, E, McElreavey, K, Jaubert, F, Raymond, J P, Richaud, F, Fellous, M
Publicerad 1992

Gene dosage effects in 46, XY DSD: usefulness of CGH technologies for diagnosis

av Jaillard, S., Bashamboo, A., Pasquier, L., Belaud-Rotureau, M. A., McElreavey, K., Odent, S., Ravel, Célia
I publikationen J Assist Reprod Genet (2014)

A novel mutation in the putative DNA helicase XH2 is responsible for male-to-female sex reversal associated with an atypical form of the ATR-X syndrome.

av Ion, A., Telvi, L., Chaussain, J. L., Galacteros, F., Valayer, J., Fellous, M., McElreavey, K.
Publicerad 1996

Y chromosome haplotypes and testicular cancer in the English population

av Quintana-Murci, L, Weale, M, Thomas, M, Erdei, E, Bradman, N, Shanks, J, Krausz, C, McElreavey, K
Publicerad 2003

A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalities.

av Telvi, L, Ion, A, Carel, J C, Desguerre, I, Piraud, M, Boutin, A M, Feingold, J, Ponsot, G, Fellous, M, McElreavey, K
Publicerad 1996

Transmission of an unbalanced (Y;1) translocation in Brittany, France

av Morel, F, Dugueperoux, I, McElreavey, K, Le Bris, M-J, Herry, A, Parent, P, Le Martelot, M-T, Fellous, M, De Braekeleer, M
Publicerad 2002

Loss of sequences 3' to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination.

av McElreavey, K, Vilain, E, Barbaux, S, Fuqua, J S, Fechner, P Y, Souleyreau, N, Doco-Fenzy, M, Gabriel, R, Quereux, C, Fellous, M, Berkovitz, G D
Publicerad 1996

GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘...

av Audí, L, Ahmed, S F, Krone, N, Cools, M, McElreavey, K, Holterhus, P M, Greenfield, A, Bashamboo, A, Hiort, O, Wudy, S A, McGowan, R
I publikationen Eur J Endocrinol (2018)

Deletion of 9p associated with gonadal dysfunction in 46,XY but not in 46,XX human fetuses

av Vialard, F, Ottolenghi, C, Gonzales, M, Choiset, A, Girard, S, Siffroi, J, McElreavey, K, Vibert-Guigue, C, Sebaoun, M, Joye, N, Portnoi, M, Jaubert, F, Fellous, M
Publicerad 2002

Mutations in NALP12 cause hereditary periodic fever syndromes

av 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.
Publicerad 2008

Swyer syndrome and 46,XY partial gonadal dysgenesis associated with 9p deletions in the absence of monosomy-9p syndrome.

av Veitia, R A, Nunes, M, Quintana-Murci, L, Rappaport, R, Thibaud, E, Jaubert, F, Fellous, M, McElreavey, K, Gonçalves, J, Silva, M, Rodrigues, J C, Caspurro, M, Boieiro, F, Marques, R, Lavinha, J
Publicerad 1998

Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility

av Machev, N, Saut, N, Longepied, G, Terriou, P, Navarro, A, Levy, N, Guichaoua, M, Metzler-Guillemai..., C, Collignon, P, Frances, A, Belougne, J, Clemente, E, Chiaroni, J, Chevillard, C, Durand, C, Ducourneau, A, Pech, N, McElreavey, K, Mattei, M, Mitchell, M
Publicerad 2004