Zobrazeno 1 - 10
of 60
pro vyhledávání: '"C Mackie Ogilvie"'
Publikováno v:
Acta Paediatrica. 87:48-53
Williams syndrome is a rare neurodevelopmental disorder with variable phenotypic expression and a contiguous gene syndrome caused by deletion of the elastin gene. In our study, hemizygosity at the elastin locus was investigated using FISH analyses in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55412cc8f840ce3f4b6214f0c84eebc4
https://doi.org/10.1111/j.1651-2227.1998.tb01384.x
https://doi.org/10.1111/j.1651-2227.1998.tb01384.x
Publikováno v:
Cytogenetic and Genome Research. 92:69-73
A two year-old child presented with mild developmental delay. On karyotype analysis, a supernumerary small marker chromosome (SMC) was found in all cells examined. This SMC was approximately the size of an isochromosome 18p, being symmetrical with a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb5d469bb83170ca45ef2e12a29782ec
https://doi.org/10.1159/000056871
https://doi.org/10.1159/000056871
Publikováno v:
Scopus-Elsevier
Multicolour fluorescence in situ hybridisation (FISH) analysis of interphase nuclei in cleavage stage human embryos has highlighted a high incidence of postzygotic chromosomal mosaicism, including both aneuploid and ploidy mosaicism. Indeed, some emb
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20310ef17b71779f9046293669ed5356
https://doi.org/10.1017/s0967199400001015
https://doi.org/10.1017/s0967199400001015
Publikováno v:
Prenatal Diagnosis. 20:587-592
A couple were referred for preimplantation genetic diagnosis (PGD) following diagnosis of a reciprocal translocation in the female partner: 46,XX,t(14;22)(q11.2;q13.3). PGD was carried out using fluorescence in situ hybridization (FISH) with probes s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8310cf0bc4c954bdd9347a101f8363b1
https://doi.org/10.1002/1097-0223(200007)20:7<587::aid-pd873>3.0.co
https://doi.org/10.1002/1097-0223(200007)20:7<587::aid-pd873>3.0.co
Publikováno v:
Cancer Genetics and Cytogenetics. 117:149-152
The chromosomal characterization of a non-small cell lung cancer cell line (NCIH358) is described. This characterization was achieved using a simple, cheap and technically straightforward multiwell fluorescence in situ hybridization (FISH) method. Th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ecce39671ed2fea3a4ae9dea9d60408
https://doi.org/10.1016/s0165-4608(99)00148-x
https://doi.org/10.1016/s0165-4608(99)00148-x
Publikováno v:
Prenatal Diagnosis. 18:1437-1449
Preimplantation genetic diagnosis (PGD) offers polymerase chain reaction tests for an increasing range of single gene defects, and fluorescence in situ hybridization tests for sex determination (for X-linked conditions) and for aneuploidy detection.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8fade1bb3e89d3b4732dda643c96700f
https://doi.org/10.1002/(sici)1097-0223(199812)18:13<1437::aid-pd497>3.0.co
https://doi.org/10.1002/(sici)1097-0223(199812)18:13<1437::aid-pd497>3.0.co
Autor:
Monika Ziegler, Anja Weise, Nadezda Kosyakova, Mariano Rocchi, A. Ovens-Raeder, C. Kraus, Susanne Morlot, W. Fischer, A Polityko, C. Mackie Ogilvie, M. Meins, Marianne Volleth, Elisabeth Klein, Thomas Liehr
Since the first report in 1993, an ectopic centromere, i.e. neocentromere formation, has been reported in more than 100 small supernumerary marker chromosomes (sSMC), in 7 instances of centromere repositioning, and in about a dozen cases with more co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fe1f8bd6a66e8d25738091d6e1009b6
https://opus4.kobv.de/opus4-fau/files/468/CGR2012136003163.pdf
https://opus4.kobv.de/opus4-fau/files/468/CGR2012136003163.pdf
Autor:
Fernando Kok, Laurence Colleaux, Marie-Louise Bondeson, Göran Annerén, David A. Koolen, Michèle Mathieu-Dramard, Willie Reardon, Frances Flinter, C. Mackie Ogilvie, Louis Vallée, Bruno Delobel, Francesco Papadia, Joris Andrieux, Catherine Vincent-Delorme, N. de Leeuw, J. Sa, L. Ronsbro Darling, Valérie Malan, R. Pfundt, C Le Caignec, S. Kjaergaard, Leopoldo Zelante, Anna-Maja Molin, Valérie Cormier-Daire, Albert David, Ana Cristina Victorino Krepischi, S. Maia, Massimo Carella, Bénédicte Duban-Bedu, Marlène Rio, Arnold Munnich, Rita Fischetto, Orazio Palumbo, Carla Rosenberg, A. Receveur
Publikováno v:
Journal of Medical Genetics
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Journal of Medical Genetics, 49, 104-9
Journal of Medical Genetics, 49, 2, pp. 104-9
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Journal of Medical Genetics, 49, 104-9
Journal of Medical Genetics, 49, 2, pp. 104-9
Item does not contain fulltext BACKGROUND: Congenital deletions affecting 3q11q23 have rarely been reported and only five cases have been molecularly characterised. Genotype-phenotype correlation has been hampered by the variable sizes and breakpoint
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c729079c62a259a60f1c0385d06df697
https://doi.org/10.1136/jmedgenet-2011-100534
https://doi.org/10.1136/jmedgenet-2011-100534
Publikováno v:
Human reproduction (Oxford, England). 26(6)
BACKGROUND: The aim of this study was to ascertain the prevalence of meiotic segregation products in embryos from carriers of I3/I4 and I4/2I Robertsonian translocations and to estimate the predictive value of testing single cells using the fluoresce
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9346ee5d0282f7e8d6339a63aac9302
https://pubmed.ncbi.nlm.nih.gov/21441546
https://pubmed.ncbi.nlm.nih.gov/21441546
Autor:
T. Brueckmann, W. Brenner, M. Steinemann, W. Vogel, S. Schlaubitz, C. Zühlke, M. Lombard, F. Boán, K. Benirschke, S. Naumann, S.W. Bremer, C. Steinlein, S. Steinemann, F. Richard, P.D. Thomsen, M. Yerle, K.D. Zang, Z. Docherty, C. Amid, K. Mrasek, I. Schubert, M. Mende, I. Nanda, T. Paiss, C. Genêt, L.J. Peelman, I. Chudoba, M. Hughes, R.-D. Wegner, U. Claussen, L. Sánchez, B. Seipel, F. Grützner, F.J. García-Cozar, D. Prawitt, B.U. Zabel, J.L. Wright, A. Van Zeveren, K. Stout, V. Kalscheuer, M. Stumm, R.V. Rambau, N. Reissmann, D.S. Gallagher, B. Zabel, A. Ishikawa, C. Messaoudi, A.T. Kumamoto, E.C. Akeson, A. Mujica, A. Dalski, P. Kaiser, T. Liehr, J.G. Scammell, S. Bremer, C. Pfeifer, S. Munsche, M.M. Valdivia, M. Van Poucke, M. Schmid, C.M. Tuck-Muller, H. Starke, F. Domínguez, Y. Matsuda, S. Störkel, C.G. Mathew, F.F.B. Elder, S. Narayanswami, H. Scherthan, J. Decker, E. Schwinger, A. Niveleau, V. Trifonov, H. Mayrhofer, J. Gómez-Márquez, J.P. Lambert, S.-E. Bikar, E. Zend-Ajusch, L.J. Bechtel, T. Haaf, Y.A. Wang, A. Viñas, C. Iglesias, C. Mackie Ogilvie, A. Bahr, T. Nagase, A. Dufke, H.H.Q. Heng, A. Winterpacht, W. Lu, T.J. Robinson, C. Maier, K. Matsubara, A. Heller, A. Kuroiwa, M. Rocchi, B. Dutrillaux, C.J. Ye, N. Nomura, N. Rubtsov, E.R. Schmidt, T. Namikawa, M.T. Davisson, C. Tuggle, K. Gardiner, H. Enders, G. Liu, M. Buceta, H. Hanson, H. Hauser, N. Sampson, H. Neitzel, P.D. Waters, T. Hankeln, H. Tönnies, C. Pendón, J. Bolívar, M.L. Houck, D. Reutzel, M. Leipoldt, A. Cichutek, P. Moens, J.A.M. Graves, P.J. Kirby, B. Maurer, A. Astola, S.A. Krawetz, F. Piumi
Publikováno v:
Cytogenetic and Genome Research. 93:321-323
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d881c0645e719a905d6afec6763e227f
https://doi.org/10.1159/000057007
https://doi.org/10.1159/000057007