Adamts-1 Is Essential for the Development and Function of the Urogenital System von MITTAZ, L, RUSSELL, D. L, WILSON, T, BRASTED, M, TKALCEVIC, J, SALAMONSEN, L. A, HERTZOG, P. J, PRITCHARD, M. A

Volltext

Evidence for catabolic pathway of propionate metabolism in CNS: expression pattern of methylmalonyl-CoA mutase and propionyl-CoA carboxylase alpha-subunit in developing and adult r... von Ballhausen, D, Mittaz, L, Boulat, O, Bonafé, L, Braissant, O

Volltext

Circulating matrix γ‐carboxyglutamate protein (MGP) species are refractory to vitamin K treatment in a new case of Keutel syndrome von CRANENBURG, E. C. M., VAN SPAENDONCK‐ZWARTS, K. Y., BONAFE, L., MITTAZ CRETTOL, L., RÖDIGER, L. A., DIKKERS, F. G., VAN ESSEN, A. J., SUPERTI‐FURGA, A., ALEXANDRAKIS, E., VERMEER, C., SCHURGERS, L. J., LAVERMAN, G. D.

Volltext

Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population von Barbosa, M, Sousa, AB, Medeira, A, Lourenço, T, Saraiva, J, Pinto-Basto, J, Soares, G, Fortuna, AM, Superti-Furga, A, Mittaz, L, Reis-Lima, M, Bonafé, L

Volltext

Autosomal dominant nemaline myopathy: A new phenotype unlinked to previously known genetic loci von Jeannet, P.Y, Mittaz, L, Dunand, M, Lobrinus, J.A, Bonafe, L, Kuntzer, T

Volltext

Neonatal calyceal dilation and renal fibrosis resulting from loss of Adamts-1 in mouse kidney is due to a developmental dysgenesis von Mittaz, Laureane, Ricardo, Sharon, Martinez, Gemma, Kola, Ismail, Kelly, Darren J., Little, Melissa H., Hertzog, Paul J., Pritchard, Melanie A.

Volltext

Adamts-1 Is Essential for the Development and Function of the Urogenital System1 von Mittaz, L, Russell, D. L, Wilson, T, Brasted, M, Tkalcevic, J, Salamonsen, L. A, Hertzog, P. J, Pritchard, M. A

Volltext

P40 Description of a Brazilian case of atelosteogenesis II: from prenatal to preimplantation diagnosis von Sanseverino, M.T.V, Magalhães, J.A, Mittaz-Crettol, L, Azambuja, R, Okada, L, Cavalcanti, D, Cuzzi, J, Badalotti, M, Petracco, R, Petracco, A

Volltext

P.378A complex movement disorder associated with myasthenic features: a novel phenotype caused by a homozygous NGLY1 mutation von Jacquier, D., Good, J., Laubscher, B., Mercati, D., Roulet-Perez, E., Kuntzer, T., Royer-Bertrand, B., Mittaz-Crettol, L., Fostad, H., Superti-Furga, A., Klein, A.

Volltext

Common Mutations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients of Different Origins von Scott, Hamish S, Heino, Maarit, Peterson, Pärt, Mittaz, Lauréane, Lalioti, Maria D, Betterle, Corrado, Cohen, Amnon, Seri, Marco, Lerone, Margherita, Romeo, Giovanni, Collin, Pekka, Salo, Matti, Metcalfe, Russell, Weetman, Anthony, Papasavvas, Marie-Pierre, Rossier, Colette, Nagamine, Kentaro, Kudoh, Jun, Shimizu, Nobuyoshi, Krohn, Kai J. E, Antonarakis, Stylianos E

Volltext

Structure of the human Lanosterol Synthase gene and its analysis as a candidate for holoprosencephaly (HPE1) von ROESSLER, E, MITTAZ, L, YANGZHU DU, SCOTT, H. S, CHANG, J, ROSSIER, C, GUIPPONI, M, MATSUDA, S. P. T, MUENKE, M, ANTONARAKIS, S. E

Volltext

Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins von Scott, H S, Heino, M, Peterson, P, Mittaz, L, Lalioti, M D, Betterle, C, Cohen, A, Seri, M, Lerone, M, Romeo, G, Collin, P, Salo, M, Metcalfe, R, Weetman, A, Papasavvas, M P, Rossier, C, Nagamine, K, Kudoh, J, Shimizu, N, Krohn, K J, Antonarakis, S E

Volltext

Mutation analyses of North American APS-1 patients von Heino, Maarit, Scott, Hamish S., Chen, Qiaoyi, Peterson, Pärt, Mäenpää, Ulla, Papasavvas, Marie-Pierre, Mittaz, Laureane, Barras, Christine, Rossier, Colette, Chrousos, George P., Stratakis, Constantine A., Nagamine, Kentaro, Kudoh, Jun, Shimizu, Nobuyoshi, Maclaren, Noel, Antonarakis, Stylianos E., Krohn, Kai

Volltext

Refined genetic mapping of the autosomal recessive non-syndromic deafness locus DFNB8 on human chromosome 21q22.3 von Scott, H S, Antonarakis, S E, Mittaz, L, Lalioti, M D, Younus, F, Mohyuddin, A, Mehdi, S Q, Gal, A

Volltext

Isolation and characterization of the mouse Aire gene von Mittaz, L, Rossier, C, Heino, M, Peterson, P, Krohn, K J, Gos, A, Morris, M A, Kudoh, J, Shimizu, N, Antonarakis, S E, Scott, H S

Volltext

Adamts-1 is Essential for the Development and Function of the Urogenital System von Mittaz, L, Russell, D, Wilson, T, Brasted, M, Tkalcevic, J, Salamonsen, L, Hertzog, P, Pritchard, M

Volltext

Cloning of a Human RNA Editing Deaminase (ADARB1) of Glutamate Receptors That Maps to Chromosome 21q22.3 von Mittaz, Lauréane, Scott, Hamish S., Rossier, Colette, Seeburg, Peter H., Higuchi, Miyoko, Antonarakis, Stylianos E.

Volltext

Localization of a novel human RNA-editing deaminase (hRED2 or ADARB2) to chromosome 10p15 von MITTAZ, L, ANTONARAKIS, S. E, HIGUCHI, M, SCOTT, H. S

Volltext

Structure of the human Lanosterol Synthase gene and its analysis as a candidate for holoprosencephaly (HPE1) von Roessler, E., Mittaz, L., Du, Y., Scott, H.S., Chang, J., Rossier, C., Guipponi, M., Matsuda, S.P.T., Muenke, M., Antonarakis, S.E.

Volltext

ADAMTS‐1–Knockout mice do not exhibit abnormalities in aggrecan turnover in vitro or in vivo von Little, Chris B., Mittaz, Laureane, Belluoccio, Daniele, Rogerson, Fraser M., Campbell, Ian K., Meeker, Clare T., Bateman, John F., Pritchard, Melanie A., Fosang, Amanda J.

Volltext