Agenesis of cruciate ligaments and menisci causing severe knee dysplasia in TAR syndrome

by Heron, D., Bonnard, C., Moraine, C., Toutain, A.
Published 2001

Familial neurofibromatosis microdeletion syndrome complicated by rhabdomyosarcoma

by Lampe, A, Seymour, G, Thompson, P, Toutain, A, Lynch, S
Published 2002

A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family.

by Ronce, N, Moizard, M P, Robb, L, Toutain, A, Villard, L, Moraine, C
Published 1997

Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia.

by Villard, L., Toutain, A., Lossi, A. M., Gecz, J., Houdayer, C., Moraine, C., Fontès, M.
Published 1996

Blood concentrations of pancreatitis associated protein in neonates: relevance to neonatal screening for cystic fibrosis

by Sarles, J., Barthellemy, S., Ferec, C., Iovanna, J., Roussey, M., Farriaux, J., Toutain, A., Berthelot, J., Maurin, N., Codet, J., Berthezene, P., Dagorn, J.
Published 1999

PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience

by Keren, B, Hadchouel, A, Saba, S, Sznajer, Y, Bonneau, D, Leheup, B, Boute, O, Gaillard, D, Lacombe, D, Layet, V, Marlin, S, Mortier, G, Toutain, A, Beylot, C, Baumann, C, Verloes, A, Cave, H, t for
Published 2004

Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III

by Raas-Rothschild, A, Bargal, R, Goldman, O, Ben-Asher, E, Groener, J, Toutain, A, Stemmer, E, Ben-Neriah, Z, Flusser, H, Beemer, F, Penttinen, M, Olender, T, Rein, A, Bach, G, Zeigler, M
Published 2004

Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions

by Dubourg, C., Bonnet-Brilhault, F., Toutain, A., Mignot, C., Jacquette, A., Dieux, A., Gérard, M., Beaumont-Epinette, M.-P., Julia, S., Isidor, B., Rossi, M., Odent, S., Bendavid, C., Barthélémy, C., Verloes, A., David, V.
Published 2014

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

by 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.
Published 2001

Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study

by Thauvin‐Robinet, C, Cossée, M, Cormier‐Daire, V, Van Maldergem, L, Toutain, A, Alembik, Y, Bieth, E, Layet, V, Parent, P, David, A, Goldenberg, A, Mortier, G, Héron, D, Sagot, P, Bouvier, A M, Huet, F, Cusin, V, Donzel, A, Devys, D, Teyssier, J R
Published 2006

Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly

by Schaefer, E., Zaloszyc, A., Lauer, J., Durand, M., Stutzmann, F., Perdomo-Trujillo, Y., Redin, C., Bennouna Greene, V., Toutain, A., Perrin, L., Gérard, M., Caillard, S., Bei, X., Lewis, R.A., Christmann, D., Letsch, J., Kribs, M., Mutter, C., Muller, J., Stoetzel, C., Fischbach, M., Marion, V., Katsanis, N., Dollfus, H.
Published 2011