Search Results - "DE LUCA, Gisele"

Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients by Borsatto, Taciane, Sperb-Ludwig, Fernanda, Pinto, Louise L C, Luca, Gisele R De, Carvalho, Francisca L, Souza, Carolina F M De, Medeiros, Paula F V De, Lourenço, Charles M, Lo Filho, Reinaldo, Neto, Eurico C, Bernardi, Pricila, Leistner-Segal, Sandra, Schwartz, Ida V

“…Biotinidase deficiency (BD) is an inborn error of metabolism in which some genetic variants correlate with the level of enzyme activity. Biotinidase activity,…”
Get full text

Attention Deficit Disorder with Hyperactivity Symptoms in Early-Treated Phenylketonuria Patients by Beckhauser, Mayara Thays, Beghini Mendes Vieira, Marcella, Moehlecke Iser, Betine, Rozone DE Luca, Gisele, Rodrigues Masruha, Marcelo, Lin, Jaime, Luiz Streck, Emilio

“…Objectives To assess the presence of symptoms consistent with Attention Deficit Disorder with Hyperactivity (ADHD) in all patients with early-treated…”
Get full text

A cohort study of neurodevelopmental disorders and/or congenital anomalies using high resolution chromosomal microarrays in southern Brazil highlighting the significance of ASD by Chaves, Tiago Fernando, Ocampos, Maristela, Barbato, Ingrid Tremel, de Camargo Pinto, Louise Lapagesse, de Luca, Gisele Rozone, Barbato Filho, Jorge Humberto, Bernardi, Priscila, Costa Netto Muniz, Yara, Francesca Maris, Angelica

“…Chromosomal microarray (CMA) is the reference in evaluation of copy number variations (CNVs) in individuals with neurodevelopmental disorders (NDDs), such as…”
Get full text

Copy Number Variations in a Cohort of 420 Individuals with Neurodevelopmental Disorders From the South of Brazil by Chaves, Tiago Fernando, Baretto, Nathacha, Oliveira, Luan Freitas de, Ocampos, Maristela, Barbato, Ingrid Tremel, Anselmi, Mayara, De Luca, Gisele Rozone, Barbato Filho, Jorge Humberto, Pinto, Louise Lapagesse de Camargo, Bernardi, Pricila, Maris, Angelica Francesca

“…Chromosomal microarray (CMA) is now recommended as first tier for the evaluation in individuals with unexplained neurodevelopmental disorders (ND). However, in…”
Get full text

Guidelines for the Management of Mucopolysaccharidosis Type I by Martins, Ana Maria, MD, PhD, Dualibi, Ana Paula, MD, PhD, Norato, Denise, MD, PhD, Takata, Edna Tiemi, MD, Santos, Emerson S., MD, Valadares, Eugênia Ribeiro, MD, PhD, Porta, Gilda, MD, PhD, de Luca, Gisele, MD, Moreira, Gustavo, MD, PhD, Pimentel, Helena, MD, Coelho, Janice, PhD, Brum, Jaime Moritz, MD, PhD, Filho, José Semionato, MD, Kerstenetzky, Marcelo Soares, MD, Guimarães, Márcia R., MD, Muñoz Rojas, Maria Verónica, MD, Aranda, Paulo Cesar, MD, Pires, Ricardo Flores, MD, Faria, Rodrigo G.C., MD, Mota, Ronald Moura Vale, MD, Matte, Ursula, PhD, Guedes, Zelita Caldeira Ferreira, PhD

Get full text

Etiology of intellectual disability in individuals from special education schools in the south of Brazil by Oliveira, Luan Freitas, Chaves, Tiago Fernando, Baretto, Nathacha, de Luca, Gisele Rozone, Barbato, Ingrid Tremel, Barbato Filho, Jorge Humberto, Ocampos, Maristela, Maris, Angelica Francesca

“…Intellectual Disability (ID) is characterized by significant limitations that affect intellectual functioning, adaptive behavior, and practical skills which…”
Get full text

Intragenic RBFOX1 Deletions in Patients With Neurodevelopmental Disorders: Report of Two Cases by Chaves, Tiago Fernando, Ocampos, Maristela, Barbato, Ingrid T, Pinto, Louise L, Barbato Filho, Jorge H, de Luca, Gisele R, Maris, Angelica F

Get full text

Partial Trisomy of 7q31.32-q33, Revealed by Microarray CGH, in Three Patients With Intellectual Disability, Hypotonia and Growth Delay by Ocampos, Maristela, Chaves, Tiago Fernando, Barbato, Ingrid T, de Luca, Gisele R, Filho, Jorge H. Barbato, Maris, Angelica F

Get full text

Long contiguous stretches of homozygosity detected by chromosomal microarrays (CMA) in patients with neurodevelopmental disorders in the South of Brazil by Chaves, Tiago Fernando, Oliveira, Luan Freitas, Ocampos, Maristela, Barbato, Ingrid Tremel, de Luca, Gisele Rozone, Barbato Filho, Jorge Humbeto, de Camargo Pinto, Louise Lapagesse, Bernardi, Pricila, Maris, Angelica Francesca

“…Currently, chromosomal microarrays (CMA) are recommended as first-tier test in the investigation of developmental disorders to examine copy number variations…”
Get full text

The Constitutional Microarray Comparative Genomic Hybridization (aCGH) Experience at the Joana de Gusmão Children's Hospital by Ocampos, Maristela, Barbato, Ingrid T, Chaves, Tiago Fernando, de Luca, Gisele R, Filho, Jorge H. Barbato, Pinto, Louise L, Maris, Angelica F

Get full text

Array CGH and Conventional Karyotyping: The Description of Two Selected Cases by Barbato, Ingrid T, Ocampos, Maristela, de Liz, Tania S, de Luca, Gisele R, BarbatoFilho, Jorge H, Pinto, Louise L, Maris, Angelica F

Get full text

INITIAL CLINICAL PRESENTATION IN CASES OF INBORN ERRORS OF METABOLISM IN A REFERENCE CHILDREN'S HOSPITAL: STILL A DIAGNOSTIC CHALLENGE by Romão, Andressa, Simon, Priscila Endlich Alves, Góes, José Eduardo Coutinho, Pinto, Louise Lapagessede Camargo, Giugliani, Roberto, Luca, Gisele Rozone de, Carvalho, Francisca Ligia Cirilo

“…To assess the initial clinical presentation of confirmed cases of inborn errors of metabolism (IEM) at a reference facility for pediatric care…”
Get full text

Neuroradiological Findings of an Adolescent with Early Treated Phenylketonuria: Is Phenylalanine Restriction Enough? by Beckhauser, Mayara Thays, Peruchi, Mirella Maccarini, de Luca, Gisele Rozone, Lin, Katia, Esteves, Sofia, Vilarinho, Laura, Lin, Jaime

“…Phenylketonuria is caused by mutations in the enzyme phenylalanine hydroxylase gene, that can result in abnormal concentrations of phenylalanine on blood,…”
Get full text

52 - Partial Trisomy of 7q31.32-q33, Revealed by Microarray CGH, in Three Patients With Intellectual Disability, Hypotonia and Growth Delay by Ocampos, Maristela, Chaves, Tiago Fernando, Barbato, Ingrid T., de Luca, Gisele R., Filho, Jorge H. Barbato, Maris, Angelica F.

Get full text

55 - Intragenic RBFOX1 Deletions in Patients With Neurodevelopmental Disorders: Report of Two Cases by Chaves, Tiago Fernando, Ocampos, Maristela, Barbato, Ingrid T., Pinto, Louise L., Barbato Filho, Jorge H., de Luca, Gisele R., Maris, Angelica F.

Get full text

45 - The Constitutional Microarray Comparative Genomic Hybridization (aCGH) Experience at the Joana de Gusmão Children's Hospital by Ocampos, Maristela, Barbato, Ingrid T., Chaves, Tiago Fernando, de Luca, Gisele R., Filho, Jorge H. Barbato, Pinto, Louise L., Maris, Angelica F.

Get full text

APRESENTAÇÃO CLÍNICA INICIAL DOS CASOS DE ERROS INATOS DO METABOLISMO DE UM HOSPITAL PEDIÁTRICO DE REFERÊNCIA: AINDA UM DESAFIO DIAGNÓSTICO by Andressa Romão, Priscila Endlich Alves Simon, José Eduardo Coutinho Góes, Louise Lapagessede Camargo Pinto, Roberto Giugliani, Gisele Rozone de Luca, Francisca Ligia Cirilo Carvalho

“…RESUMO Objetivo: Avaliar a apresentação clínica inicial dos casos com diagnóstico confirmado de erros inatos do metabolismo (EIM) em um serviço de referência…”
Get full text

APRESENTAÇÃO CLÍNICA INICIAL DOS CASOS DE ERROS INATOS DO METABOLISMO DE UM HOSPITAL PEDIÁTRICO DE REFERÊNCIA: AINDA UM DESAFIO DIAGNÓSTICO by Romão, Andressa, Simon, Priscila Endlich Alves, Góes, José Eduardo Coutinho, Pinto, Louise Lapagessede Camargo, Giugliani, Roberto, Luca, Gisele Rozone de, Carvalho, Francisca Ligia Cirilo

“…RESUMO Objetivo: Avaliar a apresentação clínica inicial dos casos com diagnóstico confirmado de erros inatos do metabolismo (EIM) em um serviço de referência…”
Get full text

Mapeamento Epidemiológico das Parasitoses Intestinais em Seis Bairros do Município de Araraquara/SP by Souza, Viviane Ferre de, Lucca, Gisele De, Anibal, Fernanda De Freitas

“…No Brasil, grandes inquéritos coproparasitológicos foram realizados até a década de 70. Nos últimos anos, contamos apenas com trabalhos isolados, que nem…”
Get full text

Longos trechos de contíguos de homozigose frequentes em exames de CGH array, no estado de SC by Chaves, Tiago Fernando, Oliveira, Luan Freitas de, O'Campos, Maristela, Barbato, Ingrid Tremel, Luca, Gisele Rozoni de, Barbato Filho, Jorge Humberto, Pinto, Louise L., Bernardi, Pricila, Maris, Angélica Francesca

“…Longos trechos contínuos de homozigose (LCSH) são segmentos cromossômicos neutros, resultantes de homozigose cromossômica ou segmentar (HMZ). Os LCSH podem ser…”
Get full text