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Cytogenetic and Molecular Evaluation and 20-Year Follow-Up of a Patient With Ring Chromosome 14
(WILEY-LISS, 2010)
We present a 20-year follow-up on a patient with a ring chromosome 14. The ring chromosome was studied by fluorescence in-situ hybridization (FISH), multiplex-ligation probe amplification (MLPA), and genome wide SNP array, ...
Cytogenetic and Molecular Evaluation and 20-Year Follow-Up of a Patient With Ring Chromosome 14
(Wiley-Blackwell, 2010-11-01)
We present a 20-year follow-up on a patient with a ring chromosome 14. the ring chromosome was studied by fluorescence in-situ hybridization (FISH), multiplex-ligation probe amplification (MLPA), and genome wide SNP array, ...
Síndrome da deleção do braço curto do cromossomo 18: avaliação clínica e citogenômica
(Universidade Federal de São Paulo (UNIFESP), 2016-03-30)
Chromosome 18p deletion syndrome [del(18p)] (OMIM 146390) has been well described in the literature with over 300 patients reported on, but few of them evaluated by cytogenomic techniques. Objective: We studied 12 patients ...
Estudo clínico e citogenético-molecular de pacientes portadores de cromossomos autossômicos em anel
(Universidade Federal de São Paulo (UNIFESP), 2010-07-28)
Ring chromosomes usually result from breaks in their short and long arms followed by fusion of both ends causing genetic material loss. Nowadays with more sensible molecular techniques it is possible to better define the ...
Asociación de variantes genéticas en el gen DEAR1 con cáncer de seno y desenlace clínico en población colombiana
(Instituto de BiotecnologíaUniversidad Nacional de Colombia - Sede Bogotá, 2017-03-15)
Breast cancer is the most common cancer and is the leading cause of cancer death in women worldwide. In Colombia, it is the leading cause of cancer death in women. For this reason is important to identify genes that may ...