COL1A1 and miR-29b show lower expression levels during osteoblast differentiation of bone marrow stromal cells from Osteogenesis Imperfecta patients von 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

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A clinical study of 77 patients with mucopolysaccharidosis type II von 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

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Osteoblastic differentiation of bone marrow mesenchymal stromal cells in Bruck Syndrome von 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

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The phenotypic spectrum of congenital Zika syndrome von 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

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Two new Brazilian patients with Gómez–López‐Hernández syndrome: Reviewing the expanded phenotype with molecular insights von Gomy, Israel, Heck, Benjamin, Santos, Antônio Carlos, Figueiredo, Maria Silvia L., Martinelli, Carlos E., Nogueira, Maria Priscila C., Pina‐Neto, João M.

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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 von Sobreira, Cláudia, Marques, Wilson, Pontes Neto, Octávio M, Santos, Antônio Carlos, Pina Neto, João M, Barreira, Amilton A

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A selective clinical cytogenetic study in prenatal and pediatric pathology: A comparison with unselected studies von Pina-Neto, João M., Ortolan, Daniela, Bitar, Vanessa S., Mazzucatto, Luis F., Fernandez, Heloísa H.L., Peres, Luiz C.

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Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis von Carvalho, Daniel R, Trad, Clovis S, Pina-Neto, João M

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COL1A1and miR-29b show lower expression levels during osteoblast differentiation of bone marrow stromal cells from Osteogenesis Imperfecta patients von 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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Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity von 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.

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

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Cerebello-trigeminal-dermal dysplasia (Gómez-López-Hernández syndrome): Description of three new cases and review von Muñoz R., M. Verónica, Santos, Antonio C., Graziadio, Carla, Pina-Neto, João M.

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Erros inatos do metabolismo confirmados no Hospital das Clínicas de Ribeirão Preto-SP no período de 2000 a 2008 von 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.

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Genetic counseling follow-up - a retrospective study with a quantitative approach von De Pina-Neto, João M., Petean, Eucia Beatriz L.

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Autosomal dominant atretic cephalocele with phenotype variability: Report of a Brazilian family with six affected in four generations von Carvalho, D.R., Giuliani, L.R., Simão, G.N., Santos, A.C., Pina‐Neto, J.M.

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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 craniossi... von Daniel R. Carvalho, Clovis S. Trad, João M. Pina-Neto

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Recurrent meningitis in a case of congenital anterior sacral meningocele and agenesis of sacral and coccygeal vertebrae von Funayama, C A, De F Turcato, M, Moura-Ribeiro, R, Rocha, G M, Pina Neto, J M, Moura-Ribeiro, M V

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Clinical-neurologic, cytogenetic and molecular aspects of the Prader-Willi and Angelman Syndromes von de Pina-Neto, J M, Ferraz, V E, de Molfetta, G A, Buxton, J, Richards, S, Malcolm, S

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Ablepharon-Macrostomia syndrome: First report of familial occurrence von Ferraz, Victor E.F., Melo, Débora G., Hansing, Susanne E., Cruz, Antonio A.V., Pina-Neto, João M.

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Estudo genético-clínico e citogenético de crianças autistas von Molfetta, Greice A., Félix, Têmis Maria, Neto, João M. Pina

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