Renal oncocytoma with a novel chromosomal rearrangement, der(13)t(13;16)(p11;p11), associated with a renal cell carcinoma

Por Leroy, X, Leteurtre, E, Mahe, P H, Gosselin, B, Delobel, B, Croquette, M F
Publicado em 2002

Characterisation of a highly polymorphic microsatellite at the DXS207 locus: confirmation of very close linkage to the retinoschisis disease gene.

Por Oudet, C, Weber, C, Kaplan, J, Segues, B, Croquette, M F, Roman, E O, Hanauer, A
Publicado em 1993

Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study.

Por Stavropoulou, C, Mignon, C, Delobel, B, Moncla, A, Depetris, D, Croquette, M F, Mattei, M G
Publicado em 1998

Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome

Por Manouvrier-Hanu, S, Amiel, J, Jacquot, S, Merienne, K, Moerman, A, Coeslier, A, Labarriere, F, Vallee, L, Croquette, M, Hanauer, A
Publicado em 1999

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

Por Lossi, A, Laugier-Anfossi, F, Depetris, D, Gecz, J, Gedeon, A, Kooy, F, Schwartz, C, Mattei, M, Croquette, M, Villard, L
Publicado em 2002

Breast cancer risk in ataxia telangiectasia (AT) heterozygotes: haplotype study in French AT families

Por Janin, N, Andrieu, N, Ossian, K, Laugé, A, Croquette, M-F, Griscelli, C, Debré, M, Bressac-de-Paillerets, B, Aurias, A, Stoppa-Lyonnet, D
Publicado em 1999

Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations

Por Luciani, 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, Mattei, M
Publicado em 2003

Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation

Por GIRAUDEAU, F., TAINE, L., BIANCALANA, V., DELOBEL, B., JOURNEL, H., MISSIRIAN, C., LACOMBE, D., BONNEAU, D., PARENT, P., AUBERT, D., HAUCK, Y., CROQUETTE, M. F., TOUTAIN, A., MATTEI, M. G., LOISEAU, H. A., DAVID, A., VERGNAUD, G.
Publicado em 2001

Physical mapping by FISH of the DiGeorge critical region (DGCR): Involvement of the region in familial cases

Por Desmaze, C., Prieur, M., Amblard, F., Aïkem, M., LeDeist, F., Demczuk, S., Zucman, J., Plougastel, B., Delattre, O., Croquette, M.-F., Brevière, G.-M., Huon, C., Le Merrer, M., Mathieu, M., Sidi, D., Stephan, J.-L., Aurias, A.
Publicado em 1993

DNA polymorphism analysis in families with recurrence of free trisomy 21

Por Pangalos, Constantinos G., Talbot, C. Conover, Lewis, John G., Adelsberger, Patricia A., Petersen, Michael B., Serre, Jean-Louis, Rethoré, Marie-Odile, de Blois, Marie-Christine, Parent, Philipe, Schinzel, Albert A., Binkert, Franz, Boue, Joelle, Corbin, Elisabeth, Croquette, M. F., Gilgenkrantz, Simone, de Grouchy, Jean, Bertheas, M. F., Prieur, Marguerite, Raoul, Odile, Serville, Francoise, Siffroi, J. P., Thepot, Francois, Lejeune, Jerome, Antonarakis, Stylianos E.
Publicado em 1992