FISH studies in a girl with sporadic aniridia and an apparently balanced de novo t(11;13)(p13;q33) translocation detect a microdeletion involving the WAGR region

Autor: J.C. Llerena Jr., J.C. Cabral de Almeida, E. Bastos, J.A. Crolla

Publikováno v: Genetics and Molecular Biology, Vol 23, Iss 3, Pp 535-539 (2000)

Conventional cytogenetic studies on a female infant with sporadic aniridia revealed what appeared to be a balanced de novo t(11;13) (p13;q33) translocation. Fluorescence in situ hybridization (FISH) investigations, however, detected the presence of a

Externí odkaz: https://doaj.org/article/e1522747f07647ba8dc78b45ace338e2

Brief Gene Mapping Reports A / B / C

Autor: O.A. Haas, J. Yuan, R.M. Anderson, B. Hoyheim, A. Sanchís, C. Rodellar, S. Floriot, W. Liu, P.C. Cooley, K.H. Howell, J. Ando, N.D. Sumption, A.J. Cuticchia, T. Hayashi, R. Schnabel, A. Dufke, N. Lemieux, F. Piumi, D.G. Papworth, A. Van Zeveren, R.M. Brunner, R.B. Phillips, E.L. Smith, S. Maione, Y. Maeda, U. Claussen, B.F. Koop, M. Kuro-o, S.S. Bhat, T. Benazzou, B. Zhu, M. DesGroseilliers, Z.L. Liu, G.P. Di Meo, L. Biltueva, M. Höglund, R.T.D. Oliver, K.C. Jung, G.B. Hubbard, L.J. Peelman, G.A. Rohrer, N. Mandahl, A. Eggen, Y.J. Lee, M.J. Paape, C.G. Artieri, T. Haaf, D. Incarnato, F. von Eggeling, A. Yoshimura, B.D. Young, H. Hiraiwa, K. Mrasek, A. Ozawa, C.M. Moore, F. Fortin, K.R. Schmidt, Y. Takano, N. Martínez Guardia, P. Zaragoza, H. Barthenschlager, K.M. Brasky, D.D. Bannerman, S.E. Parisotto, W.E. Parris, J.E. Womack, A.K. Srivastava, V.K. Maloney, I. Martín-Burriel, D.L. Stevens, L. Yu, M. Yerle, J.H. Lee, R.D. Hall, C. Ramel, G.W. Silk, A. Hill, M.S. Ashwell, M.J. Wakefield, C. Von Kap-Herr, J.C. Strefford, D. Milan, M. Gross, A. Nakata, S.H.S. Ng, M. Nilsson, F. Mertens, N.J. Foot, H. Suzuki, C.S. Park, M. Rachidi, D.T. Goodhead, K. Ohashi, A. Perucatti, G. Rohrer, K.C. Kim, M.E. Szperka, Y. Yue, L. Granjon, J.A. Rogers, N.S. Thomas, N. Li, T.J. Robinson, M. Van Poucke, V. Volobouev, S. Ladd, S.L. Yu, R. Rasero, K.S. Kim, L. Rodríguez, K. Jacobs, S. Taourit, A. Polityko, L. Iannuzzi, I. Panagopoulos, M. Raveendran, D.J. Driscoll, S. Chen, J. Lyahyai, T. Shimogiri, L.A. Mitchell, D. Soglia, T. Liehr, J. Shipley, A. Weise, T. Goldammer, A. Alsop, Y. Obara, R.D. Kulkarni, E. Lemyre, J.A. Crolla, L. Ordovas, R.G. Danzmann, V.M. Aniskin, R.J. Simensen, P.W. Nathanielsz, H.J. Jung, Y. Ando, R.E. Stevenson, M. Mattheeuws, J.L. Williams, H. Yasue, A.-L. Delezoide, D.I. Jin, V. Trifonov, E.E. Connor, T.M. Lane, W.S. Davidson, P. Sacchi, L. LeRoux, S. Kiuchi, M.M. Leland, J.M. Delabar, R. Roy, C.E. Schwartz, A.M. Khalil, N.E. Schlabritz-Loutsevitch, B.G. Dunn, A. Engelbrecht, B.R. DuPont, J.R. Vermeesch, H. Starke, A.E. Cockwell, C. Lopes, M. Morasch, P. Bass, J. Anderson, R. Rullo, Y. Matsuda, Y.-J. Lu, G. Dobigny, A.G. Terasaki, P. Gonda

Publikováno v: Cytogenetic and Genome Research. 98:108-108

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::66a3e0dadfb5d5987c258a92b039ba9a
https://doi.org/10.1159/000069467

Meiosis in trisomic female mice with Robertsonian translocations

Autor: H.J. Roberts, J.A. Crolla, P.E. Polani

Publikováno v: Cytogenetic and Genome Research. 52:111-117

The prophase oocytes of two murine Robertsonian translocation (Rb) trisomies of chromosomes 16 and 19 were investigated using electron microscopy and a whole-cell micro-spreading technique after silver staining. About 20% of fetuses of each type were

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f9fb30f1b54d6a8d591f404f7fb066fa
https://doi.org/10.1159/000132858

PRENATAL MORTALITY OF TRISOMY 21 (DOWN'S SYNDROME)

Autor: M.R. Creasy, J.A Crolla

Publikováno v: The Lancet. 303:473-474

In a series of 724 spontaneous abortuses of known chromosome constitution 24 had an extra chromosome of the G group. 8 of these were identified as trisomy 21 and 9 as trisomy 22 (1 with a short-arm deletion). There was no significant difference betwe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a7c5b01572e8b054e20a711d83ac3e4
https://doi.org/10.1016/s0140-6736(74)92784-6

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