Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability
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.
Published in American journal of medical genetics. Part A (01.06.2015)
Published in American journal of medical genetics. Part A (01.06.2015)
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Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations
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
Published in Genetics and molecular biology (01.03.2015)
Published in Genetics and molecular biology (01.03.2015)
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Journal Article
Beare‐Stevenson syndrome: Two south american patients with FGFR2 analysis
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.
Published in American journal of medical genetics. Part A (15.08.2003)
Published in American journal of medical genetics. Part A (15.08.2003)
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Journal Article
Recognition of the phenotype of thalidomide embryopathy in countries endemic for leprosy: new cases and review of the main dysmorphological findings
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
Published in Clinical dysmorphology (01.04.2013)
Published in Clinical dysmorphology (01.04.2013)
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Microarray‐based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances
Emy Dorfman, Luiza, Leite, Júlio César L., Giugliani, Roberto, Riegel, Mariluce
Published in Jornal de Pediatria (Versão em Português) (01.01.2015)
Published in Jornal de Pediatria (Versão em Português) (01.01.2015)
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Journal Article
Molecular cytogenetic evaluation of chromosomal microdeletions: the experience of a public hospital in Southern Brazil
Riegel, Mariluce, Barcellos, Natália, Mergener, Rafaella, Souza, Karen Regina S. de, Leite, Júlio César L., Gus, Rejane, Moreira, Lilia Maria A., Giugliani, R.
Published in Clinical and Biomedical Research (01.11.2014)
Published in Clinical and Biomedical Research (01.11.2014)
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Journal Article
Microarray‐based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances
Emy Dorfman, Luiza, Leite, Júlio César L., Giugliani, Roberto, Riegel, Mariluce
Published in Jornal de Pediatria (Versão em Português) (01.01.2015)
Published in Jornal de Pediatria (Versão em Português) (01.01.2015)
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Journal Article
Cardiac Surgery Unmasks Latent Hypoparathyroidism in a Child with the 22q11.2 Deletion Syndrome
Schaan, B.D., Huber, J., Leite, J.C.L., Kiss, A.
Published in Journal of Pediatric Endocrinology and Metabolism (01.07.2006)
Published in Journal of Pediatric Endocrinology and Metabolism (01.07.2006)
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Journal Article
Beare-Stevenson syndrome: Two south american patients with FGFR2 analysis
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.
Published in American Journal of Medical Genetics Part A (15.08.2003)
Published in American Journal of Medical Genetics Part A (15.08.2003)
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