Search Results - "Dorfman, Luiza Emy"

Microarray-based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances by Emy Dorfman, Luiza, Leite, Júlio César L., Giugliani, Roberto, Riegel, Mariluce

“…To identify chromosomal imbalances by whole-genome microarray-based comparative genomic hybridization (array-CGH) in DNA samples of neonates with congenital…”
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The rs11755527 polymorphism in the BACH2 gene and type 1 diabetes mellitus: case control study in a Brazilian population by Dieter, Cristine, Lemos, Natália Emerim, Dorfman, Luiza Emy, Duarte, Guilherme Coutinho Kullmann, Assmann, Taís Silveira, Crispim, Daisy

“…Objective Type 1 diabetes mellitus (T1DM) is an autoimmune disorder caused by a complex interaction between environmental and genetic risk factors. BTB domain…”
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The role of cytogenetics and molecular biology in the diagnosis, treatment and monitoring of patients with chronic myeloid leukemia by Dorfman, Luiza Emy, Floriani, Maiara A., Oliveira, Tyana Mara R. D. R., Cunegatto, Bibiana, Rosa, Rafael Fabiano M., Zen, Paulo Ricardo G.

“…ABSTRACT Chronic myeloid leukemia (CML) is the most common myeloproliferative disorder among chronic neoplasms. The history of this disease joins with the…”
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Report of a patient with fragile X syndrome unexpectedly identified by karyotype analysis by Floriani, Maiara A., Boas, Marcelo R. Vilas, Rosa, Rafael Fabiano M., Trevisan, Patrícia, Dorfman, Luiza Emy, Rosa, Rosana C. M., Zen, Tatiana D., Zen, Paulo Ricardo G.

“…ABSTRACT Fragile X syndrome is considered the main known cause of inherited learning disabilities and it is characterized by mutations in the FMR1 gene. Our…”
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Applications of electron microscopy in health: the example of epidermolysis bullosa by Floriani, Maiara A., Bau, Ana Elisa K., Silva, Raquel P., Graziadio, Carla, Dorfman, Luiza Emy, Zen, Tatiana D., Rosa, Rafael Fabiano M., Zen, Paulo Ricardo G.

“…ABSTRACT We report the case of a patient with dystrophic epidermolysis bullosa (DEB) diagnosed by transmission electron microscopy (TEM), emphasizing the…”
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Microarray‐based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances by Emy Dorfman, Luiza, Leite, Júlio César L., Giugliani, Roberto, Riegel, Mariluce

“…Objective: To identify chromosomal imbalances by whole‐genome microarray‐based comparative genomic hybridization (array‐CGH) in DNA samples of neonates with…”
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The rs2292239 polymorphism in ERBB3 gene is associated with risk for type 1 diabetes mellitus in a Brazilian population by Lemos, Natália Emerim, Dieter, Cristine, Dorfman, Luiza Emy, Assmann, Taís Silveira, Duarte, Guilherme Coutinho Kullmann, Canani, Luis Henrique, Bauer, Andrea Carla, Crispim, Daisy

“…The Erb-b2 receptor tyrosine kinase 3 (ERBB3) belongs to a family of epidermal growth factor receptors of protein tyrosine kinases, and regulates cell…”
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16p11.2 Microduplication Syndrome with Increased Fluid in the Cisterna: Coincidence or Phenotype Extension? by Nascimento, Lívia Polisseni Cotta, Mergener, Rafaella, Nunes, Marcela Rodrigues, Muniz, Victória Feitosa, Catao, Juliana Rossi, Silveira, Ana Kalise Böttcher da, Dorfman, Luiza Emy, Graziadio, Carla, Zen, Paulo Ricardo Gazzola

“…We report the first case of a child with 16p11.2 microduplication syndrome with increased fluid in the cisterna magna seen on magnetic resonance imaging (MRI)…”
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Development and validation of homebrew FISH Probes for 22q11.2 deletion syndrome by Dorfman, Luiza Emy, Trevisan, Patrícia, Paskulin, Diego A., Floriani, Maiara A., Scherner, Luiza Carolina R., Bassani, Naiane C., Santos, Andressa S., Rosa, Rafael F. M., Zen, Paulo Ricardo G.

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Microarray-based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances by Luiza Emy Dorfman, Júlio César L. Leite, Roberto Giugliani, Mariluce Riegel

“…OBJECTIVE: To identify chromosomal imbalances by whole-genome microarray-based comparative genomic hybridization (array-CGH) in DNA samples of neonates with…”
Get full text

Microarray‐based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances by Emy Dorfman, Luiza, Leite, Júlio César L., Giugliani, Roberto, Riegel, Mariluce

“…To identify chromosomal imbalances by whole‐genome microarray‐based comparative genomic hybridization (array‐CGH) in DNA samples of neonates with congenital…”
Get full text