Search Results - "Leite, Julio César L."

Recognition of the phenotype of thalidomide embryopathy in countries endemic for leprosy: new cases and review of the main dysmorphological findings by Vianna, Fernanda S.L., Schüler-Faccini, Lavínia, Leite, Julio César L., de Sousa, Silvia H.C., da Costa, Lea Márcia M., Dias, Murilo F., Morelo, Elaine F., Doriqui, Maria Juliana R., Maximino, Claudia M., Sanseverino, Maria Teresa V.

“…Thalidomide is the best-known teratogen worldwide. It was first marketed as a sedative in the late 1950s, but the birth of ∼10 000 children with birth defects…”
Get full text

Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability by Mattos, Eduardo P., Silva, André Anjos da, Magalhães, José Antônio A, Leite, Júlio César L., Leistner-Segal, Sandra, Gus-Kessler, Rejane, Perez, Juliano Adams, Vedolin, Leonardo M., Torreblanca-Zanca, Albertina, Lapunzina, Pablo, Ruiz-Perez, Victor L., Sanseverino, Maria Teresa V.

“…In some cases Neu‐Laxova syndrome (NLS) is linked to serine deficiency due to mutations in the phosphoglycerate dehydrogenase (PHGDH) gene. We describe the…”
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

Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations by Mattos, Eduardo P, Sanseverino, Maria Teresa V, Magalhães, José Antônio A, Leite, Júlio César L, Félix, Temis Maria, Todeschini, Luiz Alberto, Cavalcanti, Denise P, Schüler-Faccini, Lavinia

“…Campomelic dysplasia (CD) is an autosomal, dominantly inherited, skeletal abnormality belonging to the subgroup of bent bone dysplasias. In addition to bowed…”
Get full text

Beare‐Stevenson syndrome: Two south american patients with FGFR2 analysis by Vargas, Rosa Andrea Pardo, Maegawa, Gustavo Henrique Boff, Taucher, Silvia Castillo, Leite, Júlio César L., Sanz, Patricia, Cifuentes, Juan, Parra, Mauro, Muñoz, Hernán, Maranduba, Carlos Magno, Passos‐Bueno, Maria R.

“…We report two patients with Beare‐Stevenson syndrome. This syndrome presents craniosynostosis with or without clover‐leaf skull, craniofacial anomalies, cutis…”
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

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

Cardiac surgery unmasks latent hypoparathyroidism in a child with the 22q11.2 deletion syndrome by Schaan, Beatriz D'Agord, Huber, Janaina, Leite, Julio Cesar L, Kiss, Andrea

“…The 22q11.2 deletion syndrome is a developmental field defect of the third and fourth pharyngeal pouches characterized by a spectrum of thymic and parathyroid…”
Get more information

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

Molecular cytogenetic evaluation of chromosomal microdeletions: the experience of a public hospital in Southern Brazil by Riegel, Mariluce, Barcellos, Natália, Mergener, Rafaella, Souza, Karen Regina S. de, Leite, Júlio César L., Gus, Rejane, Moreira, Lilia Maria A., Giugliani, R.

“…Introduction: During the past few decades, the number of diseases identified to be caused by chromosomal microdeletions has increased quickly, bringing a new…”
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

Beare-Stevenson syndrome: Two south american patients with FGFR2 analysis by Vargas, Rosa Andrea Pardo, Maegawa, Gustavo Henrique Boff, Taucher, Silvia Castillo, Leite, Júlio César L., Sanz, Patricia, Cifuentes, Juan, Parra, Mauro, Muñoz, Hernán, Maranduba, Carlos Magno, Passos-Bueno, Maria R.

Get full text