Zobrazeno 1 - 10 of 20 pro vyhledávání: '"Pina Neto João Monteiro de"'
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Akademický článek
A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect
Autor: De Molfetta Greice Andreotti, Felix Temis Maria, Riegel Mariluce, Ferraz Victor Evangelista de Faria, Pina Neto João Monteiro de
Publikováno v: Arquivos de Neuro-Psiquiatria, Vol 60, Iss 4, Pp 1011-1014 (2002)
Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are distinct human neurogenetic disorders; however, a clinical overlap between AS and PWS has been identified. We report on a further case of a patient showing the PWS phenotype with the AS molec
Externí odkaz: https://doaj.org/article/2d515097dd854cef8b60d18c6bd79d74
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3
Aconselhamento genético
Autor: Pina-Neto, João Monteiro de
Publikováno v: Jornal de Pediatria v.84 n.4 suppl.0 2008
Jornal de Pediatria
Sociedade Brasileira de Pediatria (SBP)
instacron:SBPE
Jornal de Pediatria, Volume: 84, Issue: 4 Supplement, Pages: S20-S26, Published: AUG 2008
OBJETIVO: Esta revisão sobre aconselhamento genético (AG) teve o objetivo de mostrar os conceitos atuais e os princípios filosóficos e éticos aceitos na grande maioria dos países e recomendados pela Organização Mundial da Saúde, as fases do
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::7f73366b978dd4606fc6b3e9e9d03947
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0021-75572008000500004
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4
Investigação das causas de atraso no neurodesenvolvimento: recursos e desafios
Autor: Caram, Luiza Helena Acerbi, Funayama, Carolina Araújo Rodrigues, Spina, Cleide Íris, Giuliani, Liane de Rosso, Pina Neto, João Monteiro de
Publikováno v: Arquivos de Neuro-Psiquiatria, Volume: 64, Issue: 2b, Pages: 466-472, Published: JUN 2006
Com o objetivo de verificar o alcance da investigação de causas do retardo no desenvolvimento neuromotor (RDNM), apresenta-se a experiência no atendimento em Pediatria, Neurologia Infantil e Genética Clínica, em nível terciário, de 73 criança
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______608::13dad1585d0f5a149202d4368ee593b9
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2006000300022&lng=en&tlng=en
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7
A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect
Autor: De Molfetta, Greice Andreotti, Felix, Temis Maria, Riegel, Mariluce, Ferraz, Victor Evangelista de Faria, Pina Neto, João Monteiro de
Publikováno v: Arquivos de Neuro-Psiquiatria, Volume: 60, Issue: 4, Pages: 1011-1014, Published: DEC 2002
Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are distinct human neurogenetic disorders; however, a clinical overlap between AS and PWS has been identified. We report on a further case of a patient showing the PWS phenotype with the AS molec
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______608::f4478189dc03b37a1c780f382865f5d7
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2002000600024&lng=en&tlng=en
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8
Sotos syndrome (cerebral gigantism): analysis of 8 cases
Autor: Melo, Débora Gusmão, Acosta, Angelina Xavier, Salles, Maria Aparecida de Almeida, Pina-Neto, João Monteiro de, Castro, José Daniel Vieira de, Santos, Antonio Carlos
Publikováno v: Arquivos de Neuro-Psiquiatria, Volume: 60, Issue: 2A, Pages: 234-238, Published: JUN 2002
Sotos syndrome or cerebral gigantism is characterized by macrocephaly, overgrowth, mental retardation and central nervous system abnormalities. Congenital heart defects may be present. We report 8 patients with this syndrome and relate their clinical
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______608::241bf026a53626e66f5a6d8ea73c1991
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2002000200009&lng=en&tlng=en
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10
Fragile X syndrome: clinical and cytogenetic studies
Autor: FÉLIX, TÊMIS MARIA, PINA-NETO, JOÃO MONTEIRO DE
Publikováno v: Arquivos de Neuro-Psiquiatria, Volume: 56, Issue: 1, Pages: 09-17, Published: MAR 1998
Three families with the fragile X syndrome were studied with the aim to establish the most frequent clinical signs in the affected individuals and heterozygous women. The clinical evaluation, IQ level measurements and cytogenetic studies were perform
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______608::170835190cc05a8d0c605f1eb0ea8253
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1998000100002&lng=en&tlng=en
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