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Author/Creator Mattei, M-G

1. Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation. Issue 2 (1st February 2002)

Authors:
Lossi, A-M; Laugier-Anfossi, F; Depetris, D; Gecz, J; Gedeon, A; Kooy, F; Schwartz, C; Mattei, M-G; Croquette, M-F; Villard, L
Journal:
Journal of medical genetics
Issue:
Volume 39:Issue 2(2002)
Page Start:
113
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genes. Issue 3 (2nd March 2005)

Authors:
Aubourg, P; Krahn, M; Bernard, R; Nguyen, K; Forzano, O; Boccaccio, I; Delague, V; De Sandre-Giovannoli, A; Pouget, J; Depétris, D; Mattei, M-G; Philip, N; Lévy, N
Journal:
Journal of medical genetics
Issue:
Volume 42:Issue 3(2005)
Page Start:
253
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility. Issue 11 (1st November 2004)

Authors:
Machev, N; Saut, N; Longepied, G; Terriou, P; Navarro, A; Levy, N; Guichaoua, M; Metzler-Guillemain, C; Collignon, P; Frances, A-M; Belougne, J; Clemente, E; Chiaroni, J; Chevillard, C; Durand, C; Ducourneau, A; Pech, N; McElreavey, K; Mattei, M-G; Mitchell, M J
Journal:
Journal of medical genetics
Issue:
Volume 41:Issue 11(2004)
Page Start:
814
Record Type:
Journal Article
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5. Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations. Issue 9 (5th September 2003)

Authors:
Luciani, J J; de Mas, P; Depetris, D; Mignon-Ravix, C; Bottani, A; Prieur, M; Jonveaux, P; Philippe, A; Bourrouillou, G; de Martinville, B; Delobel, B; Vallee, L; Croquette, M-F; Mattei, M-G
Journal:
Journal of medical genetics
Issue:
Volume 40:Issue 9(2003)
Page Start:
690
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗