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

Por Heron, D., Bonnard, C., Moraine, C., Toutain, A.
Publicado em 2001

Familial neurofibromatosis microdeletion syndrome complicated by rhabdomyosarcoma

Por Lampe, A, Seymour, G, Thompson, P, Toutain, A, Lynch, S
Publicado em 2002

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

Por Ronce, N, Moizard, M P, Robb, L, Toutain, A, Villard, L, Moraine, C
Publicado em 1997

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

Por Villard, L., Toutain, A., Lossi, A. M., Gecz, J., Houdayer, C., Moraine, C., Fontès, M.
Publicado em 1996

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

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

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

Por 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
Publicado em 2004

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

Por 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
Publicado em 2004

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

Por 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.
Publicado em 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

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

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

Por 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
Publicado em 2006

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

Por 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.
Publicado em 2011