Search Results - "Pina‐Neto, João M."

COL1A1 and miR-29b show lower expression levels during osteoblast differentiation of bone marrow stromal cells from Osteogenesis Imperfecta patients by Kaneto, Carla M, Lima, Patrícia S P, Zanette, Dalila L, Prata, Karen L, Pina Neto, João M, de Paula, Francisco J A, Silva, Jr, Wilson A

“…The majority of Osteogenesis Imperfecta (OI) cases are caused by mutations in one of the two genes, COL1A1 and COL1A2 encoding for the two chains that…”
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A clinical study of 77 patients with mucopolysaccharidosis type II by Schwartz, Ida VD, Ribeiro, Márcia G, Mota, João G, Toralles, Maria Betânia P, Correia, Patrícia, Horovitz, Dafne, Santos, Emerson S, Monlleo, Isabella L, Fett-Conte, Agnes C, Sobrinho, Ruy P Oliveira, Norato, Denise YJ, Paula, Anna Carolina, Kim, Chong A, Duarte, Andréa R, Boy, Raquel, Valadares, Eugênia, De Michelena, Maria, Mabe, Paulina, Martinhago, Cyro D, Pina-Neto, João M, Kok, Fernando, Leistner-Segal, Sandra, Burin, Maira G, Giugliani, Roberto

“…Aim: This study aims to assess the clinical features of 77 South American patients (73 Brazilian) with mucopolysaccharidosis type II (MPS II). Methods: Details…”
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Osteoblastic differentiation of bone marrow mesenchymal stromal cells in Bruck Syndrome by Kaneto, Carla M, Lima, Patrícia S P, Zanette, Dalila Lucíola, Oliveira, Thiago Yukio Kikuchi, de Assis Pereira, Francisco, Lorenzi, Julio Cesar Cetrulo, Dos Santos, Jane Lima, Prata, Karen L, Neto, João M Pina, de Paula, Francisco J A, Silva, Jr, Wilson A

“…Osteogenesis Imperfecta (OI) (OMIM %259450) is a heterogeneous group of inherited disorders characterized by increased bone fragility, with clinical severity…”
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The phenotypic spectrum of congenital Zika syndrome by del Campo, Miguel, Feitosa, Ian M. L., Ribeiro, Erlane M., Horovitz, Dafne D. G., Pessoa, André L. S., França, Giovanny V. A., García‐Alix, Alfredo, Doriqui, Maria J. R., Wanderley, Hector Y. C., Sanseverino, Maria V. T., Neri, João I. C. F., Pina‐Neto, João M., Santos, Emerson S., Verçosa, Islane, Cernach, Mirlene C. S. P., Medeiros, Paula F. V., Kerbage, Saile C., Silva, André A., van der Linden, Vanessa, Martelli, Celina M. T., Cordeiro, Marli T., Dhalia, Rafael, Vianna, Fernanda S. L., Victora, Cesar G., Cavalcanti, Denise P., Schuler‐Faccini, Lavinia

“…In October 2015, Zika virus (ZIKV) outbreak the Brazilian Ministry of Health (MoH). In response, the Brazilian Society of Medical Genetics established a task…”
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Two new Brazilian patients with Gómez–López‐Hernández syndrome: Reviewing the expanded phenotype with molecular insights by Gomy, Israel, Heck, Benjamin, Santos, Antônio Carlos, Figueiredo, Maria Silvia L., Martinelli, Carlos E., Nogueira, Maria Priscila C., Pina‐Neto, João M.

“…Gómez–López‐Hernández (GLH) syndrome or cerebello‐trigeminal dysplasia is a neurocutaneous syndrome whose etiology is unknown at the present time. We report…”
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Leigh-like syndrome with the T8993G mutation in the mitochondrial ATPase 6 gene: long-term follow-up discloses a slowly progressive course by Sobreira, Cláudia, Marques, Wilson, Pontes Neto, Octávio M, Santos, Antônio Carlos, Pina Neto, João M, Barreira, Amilton A

“…Abstract We describe the long-term clinical outcome of a patient with Leigh-like syndrome presenting as an early onset encephalopathy and peripheral neuropathy…”
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Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis by Carvalho, Daniel R, Trad, Clovis S, Pina-Neto, João M

“…Prader-Willi syndrome is a mental retardation genetic disorder also characterized by hypogonadism, hyperphagia and obesity. We report on a four-years-old boy,…”
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A selective clinical cytogenetic study in prenatal and pediatric pathology: A comparison with unselected studies by Pina-Neto, João M., Ortolan, Daniela, Bitar, Vanessa S., Mazzucatto, Luis F., Fernandez, Heloísa H.L., Peres, Luiz C.

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COL1A1and miR-29b show lower expression levels during osteoblast differentiation of bone marrow stromal cells from Osteogenesis Imperfecta patients by Kaneto, Carla M, Lima, Patrícia SP, Zanette, Dalila L, Prata, Karen L, Pina Neto, João M, de Paula, Francisco JA, Silva, Wilson A

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Somatic and germ cell cytogenetic studies and AZF microdeletion screening in infertile men by Carrara, Rita C. V., Yamasaki, Rui, Mazucatto, Luís F., Veludo, Maria A. Llorach, Sartorato, Edi L., Pina-Neto, João M.

“…Clinical and cytogenetic studies were performed in 65 infertile individuals, and 56 of them were also screened for microdeletions in Yq11 (AZF region)…”
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Cerebello-trigeminal-dermal dysplasia (Gómez-López-Hernández syndrome): Description of three new cases and review by Muñoz R., M. Verónica, Santos, Antonio C., Graziadio, Carla, Pina-Neto, João M.

“…Cerebello‐trigemino‐dermal “dysplasia” is a rare neurocutaneous syndrome of craniosynostosis, ataxia, trigeminal anesthesia, scalp alopecia, cerebellar…”
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Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity by Jalali, Ali, Aldinger, Kimberly A., Chary, Ajit, Mclone, David G., Bowman, Robin M., Le, Luan Cong, Jardine, Phillip, Newbury-Ecob, Ruth, Mallick, Andrew, Jafari, Nadereh, Russell, Eric J., Curran, John, Nguyen, Pam, Ouahchi, Karim, Lee, Charles, Dobyns, William B., Millen, Kathleen J., Pina-Neto, Joao M., Kessler, John A., Bassuk, Alexander G.

“…We previously reported a Vietnamese-American family with isolated autosomal dominant occipital cephalocele. Upon further neuroimaging studies, we have…”
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Erros inatos do metabolismo confirmados no Hospital das Clínicas de Ribeirão Preto-SP no período de 2000 a 2008 by Righetto, André Luiz C., Turcato, Marlene Fátima, Anselmo, José Nilson N., Jotha, Maria Celeste D., Santos, Cristiane D., Garcia, Daniel F., Silveira, Emanuele A. B., Lourenço, Charles M., Sawamura, Regina, Camelo Junior, José S., Fernandes, Maria Inez M., Sobreira, Cláudia F. R., Maciel, Lea Maria Z., Funayama, Carolina A.R., Pina Neto, João M.

“…Os Erros Inatos do Metabolismo (EIM) vêm sendo cada vez mais identificados nos últimos anos. A preocupação com o diagnóstico precoce decorre do foco na…”
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Genetic counseling follow-up - a retrospective study with a quantitative approach by De Pina-Neto, João M., Petean, Eucia Beatriz L.

“…The impact of genetic counseling (GC) was evaluated in families, who were interviewed at least two and half years and at most seven years after GC at the…”
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Clinical-neurologic, cytogenetic and molecular aspects of the Prader-Willi and Angelman Syndromes by de Pina-Neto, J M, Ferraz, V E, de Molfetta, G A, Buxton, J, Richards, S, Malcolm, S

“…The Prader-Willi syndrome (PWS) and the Angelman syndrome (AS) are human neurogenetic disorders involving the imprinting mechanism, at the 15q11-13 chromosome…”
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Recurrent meningitis in a case of congenital anterior sacral meningocele and agenesis of sacral and coccygeal vertebrae by Funayama, C A, De F Turcato, M, Moura-Ribeiro, R, Rocha, G M, Pina Neto, J M, Moura-Ribeiro, M V

“…A rare case of recurrent meningitis due to congenital anterior sacral meningocele and agenesis of the sacral and coccygeal vertebrae is described. An autosomal…”
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Estudo genético-clínico e citogenético de crianças autistas by Molfetta, Greice A., Félix, Têmis Maria, Neto, João M. Pina

“…O autismo infantil é caracterizado pelo comportamento típico que pode ser causado por uma doença orgânica ou por um distúrbio emocional. Através de um estudo…”
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Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis Síndrome de Prader-Willi em paciente com Klinefelter (cariótipo XXY) e craniossinostose by Daniel R. Carvalho, Clovis S. Trad, João M. Pina-Neto

“…Prader-Willi syndrome is a mental retardation genetic disorder also characterized by hypogonadism, hyperphagia and obesity. We report on a four-years-old boy,…”
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Autosomal dominant atretic cephalocele with phenotype variability: Report of a Brazilian family with six affected in four generations by Carvalho, D.R., Giuliani, L.R., Simão, G.N., Santos, A.C., Pina‐Neto, J.M.

“…Atretic cephalocele is a clinicopathological entity, which is different from the common form of cephalocele. Its etiopathogenesis has not been completely…”
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Ablepharon-Macrostomia syndrome: First report of familial occurrence by Ferraz, Victor E.F., Melo, Débora G., Hansing, Susanne E., Cruz, Antonio A.V., Pina-Neto, João M.

“…Ablepharon‐macrostomia syndrome (AMS) is a rare condition comprising severe deficiency of the anterior lamella of both eyelids, abnormal ears, macrostomia,…”
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