Browsing by Author Koiffmann, Celia P.

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Showing results 1 to 5 of 5
Issue DateTitleAuthor(s)
1-Jan-2010Extending the Phenotype of Monosomy 1p36 Syndrome and Mapping of a Critical Region for Obesity and HyperphagiaD'Angelo, Carla S.; Kohl, Ilana; Varela, Monica Castro; Castro, Claudia I. E. de; Kim, Chong A.; Bertola, Debora R.; Lourenco, Charles M.; Koiffmann, Celia P.; Universidade de São Paulo (USP); Universidade Federal de São Paulo (UNIFESP)
1-Jun-2009Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangementsD'Angelo, Carla S.; Gajecka, Marzena; Kim, Chong A.; Gentles, Andrew J.; Glotzbach, Caron D.; Shaffer, Lisa G.; Koiffmann, Celia P.; Universidade de São Paulo (USP); Washington State Univ; Polish Acad Sci; Universidade Federal de São Paulo (UNIFESP); Stanford Univ; Signature Genom Labs
31-Oct-2014Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probesD'Angelo, Carla S.; Varela, Monica C.; Castro, Claudia I. E. de; Kim, Chong A.; Bertola, Debora R.; Lourenco, Charles M.; Perez, Ana Beatriz Alvarez [UNIFESP]; Koiffmann, Celia P.; Universidade de São Paulo (USP); Universidade Federal de São Paulo (UNIFESP)
1-Sep-2009MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reportedFagali, Claudia; Kok, Fernando; Nicola, Pablo [UNIFESP]; Kim, Chong; Bertola, Debora; Albano, Lilian; Koiffmann, Celia P.; Universidade de São Paulo (USP); Universidade Federal de São Paulo (UNIFESP)
1-Mar-2010A Rare Case of Trisomy 15pter-q21.2 Due to a de Novo Marker ChromosomePacanaro, Ade Nubia Xavier [UNIFESP]; Christofolini, Denise Maria; Kulikowski, Leslie Domenici; Nogueira Belangero, Sintia Iole; Silva Bellucco, Fernanda Teixeira da; Varela, Monica C.; Koiffmann, Celia P.; Yoshimoto, Maisa; Squire, Jeremy A.; Schiavon, Adriana V.; Heck, Benjamin; Melaragno, Maria Isabel [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Universidade de São Paulo (USP); Univ Toronto; Hosp Sao Camilo Pompeia