Search Results - "Batista, Denise AS"
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A non-mosaic transchromosomic mouse model of down syndrome carrying the long arm of human chromosome 21
Published in eLife (29-06-2020)“…Animal models of Down syndrome (DS), trisomic for human chromosome 21 (HSA21) genes or orthologs, provide insights into better understanding and treatment…”
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The impact of chromosomal microarray on clinical management: a retrospective analysis
Published in Genetics in medicine (01-09-2014)“…Purpose: Chromosomal microarray has been widely adopted as the first-tier clinical test for individuals with multiple congenital anomalies, developmental…”
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Familial TAB2 microdeletion and congenital heart defects including unusual valve dysplasia and tetralogy of fallot
Published in American journal of medical genetics. Part A (01-11-2015)“…Haploinsufficiency of TAB2 was recently implicated as a cause for a variety of congenital heart defects. Reported cases have genomic deletions of 2–10 Mbs…”
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Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings
Published in American journal of medical genetics. Part A (01-05-2015)“…Recently, mutations in FARS2, which encodes for mitochondrial phenylalanyl–tRNA synthetase, have been implicated in autosomal recessive combined oxidative…”
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Tumor-Infiltrating Macrophages in Post-Transplant, Relapsed Classical Hodgkin Lymphoma Are Donor-Derived
Published in PloS one (29-09-2016)“…Tumor-associated inflammatory cells in classical Hodgkin lymphoma (CHL) typically outnumber the neoplastic Hodgkin/Reed-Sternberg (H/RS) cells. The composition…”
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Acute mixed lineage leukemia and a t(6;14)(q25;q32) in two adults
Published in Cancer genetics and cytogenetics (01-08-2008)“…Abstract Acute mixed lineage leukemia (AMLL) is a rare form of leukemia in which both myeloid and lymphoid markers are present. Few chromosome abnormalities…”
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