Results 1 to 10 of about 1,889 (81)

Correlação entre as características do perfil e desenvolvimento sensório-motor de crianças com síndromes genéticas [PDF]

Revista Eletrônica de Enfermagem, 2012
Este trabalho trata-se de estudo transversal cujo objetivo foi verificar correlação entre as características do perfil e desenvolvimento sensório-motor de crianças com síndromes genéticas.
Ana Paula Vasconcelos Alves, Cibelle Kayenne Martins Roberto Formiga, Fabiana Pavan Viana   +2 more
doaj   +8 more sources

Macrothrombocytopenia, renal dysfunction and nephrotic syndrome in a young male patient: a case report of MYH9-related disease [PDF]

Brazilian Journal of Nephrology, 2018
MYH9-related disease is an autosomal dominant disorder caused by mutations of the MYH9 gene, which encodes the non-muscle myosin heavy chain IIA on chromosome 22q12. It is characterized by congenital macrothrombocytopenia, bleeding tendency, hearing loss,
Gabriela Sevignani, Giovana Memari Pavanelli, Sibele Sauzem Milano, Bianca Ramos Ferronato, Maria Aparecida Pachaly, Hae II Cheong, Mauricio de Carvalho, Fellype Carvalho Barreto   +7 more
doaj   +2 more sources

Analysis of HFE gene mutations and HLA-A alleles in Brazilian patients with iron overload. [PDF]

Sao Paulo Med J, 2006
Cançado RD, Guglielmi AC, Vergueiro CS, Rolim EG, Figueiredo MS, Chiattone CS.   +5 more
europepmc   +2 more sources

Eugenia connection with issues bioethical: an integrative review [PDF]

, 2014
The objective of the study is analyzing the scientific productions that deal about binding- the eugenics with the bioethical issues. This is an integrative literature review.
Boery, Eduardo Nagib, Boery, Rita Narriman Silva De Oliveira, Fonseca, Jamile Guerra, Santos, Vanessa Cruz, Sena, Edite Lago Da Silva, Yarid, Sérgio Donha   +5 more
core   +1 more source

Síndrome trico-dento-óssea: uma breve revisão para odontologia

Revista da Faculdade de Odontologia de Porto Alegre, 2020
Introdução: A síndrome trico-dento-óssea é uma displasia ectodérmica ultra-rara relacionada a alterações genéticas no gene DLX3 de interesse para as ciências da saúde devido à suas manifestações clínicas.
Ricardo Barbosa Lima, Taigor Alves Azevedo, Amanda Lopes, Aquiles Sales Craveiro Sarmento, Carlos Eduardo Palanch Repeke   +4 more
doaj   +4 more sources

Risk, protection and resilience in the development of children and adolescents [PDF]

, 2005
Risk, protection and resilience are current issues in mental development researches. Risk factor concept is already well Risk, protection and resilience are current issues in mental development researches.
Pedromônico, Márcia Regina Marcondes, Sapienza, Graziela   +1 more
core   +4 more sources

The relation between the dignity of the disabled person and the value of human embryos [PDF]

, 2020
In the last few decades, it has been notorious the increased offer of genetic testing for prenatal diagnosis as well as their application for pregnancy interruption or discarding embryos in assisted reproduction.
Oliveira, Houda Izabela de, Sanches, Mário Antônio, Silva, Daiane Priscila Simão   +2 more
core   +2 more sources

Mais do que uma insuficiência de crescimento: relato de caso

Revista Portuguesa de Medicina Geral e Familiar, 2017
Introdução: A insuficiência de crescimento (IC) constitui um motivo frequente de referenciação a consultas médicas em idade pediátrica. As causas podem ser múltiplas, sendo a sua identificação fundamental para o tratamento e/ou prevenção de ...
Sara Magalhães, Marlene Rodrigues, Maria João Nabais Sá   +2 more
doaj   +1 more source

Evolutionism and genetics of posttraumatic stress disorder [PDF]

, 2008
The authors discuss, from the evolutionary concept, how flight and fight responses and tonic immobility can lead to a new understanding of posttraumatic stress disorder.
Bennett AJ, Bonne O, Bracha HS, Bracha HS, Bracha HS, Brand SR, Bremne JD, Breslau N, Brewin CR, Broekman BF, Caspi A, Caspi A, Caspi A, Champagne F, Champagne FA, Christopher M, Comings DE, Damásio AR, de Kloet ER, Elzinga BM, Faure J, Fraga MF, Gelernter J, Hariri AR, Hariri AR, Heim C, Homero Vallada, Hough CJ, Izquierdo I, Izquierdo I, Janet P, Jose Paulo Fiks, Kaffman A, Keay KA, Kendler KS, Kozlovsky N, Lawford BR, Lawford BR, Lee HJ, Lesch KP, Lindauer RJ, Marcelo Feijó de Mello, Marshall RD, Mello E Souza T, Munck A, Murphy DL, Nemeroff CB, Nesse RM, Nesse RM, Nina Leão Marques Valente, Noble EP, Olff M, Panksepp J, Pezawas L, Poulsen P, Rasmusson AM, Sack WH, Sapolsky RM, Sapolsky RM, Segman RH, Selye H, Sharov AA, Silove D, Sonenreich C, Sotres-Bayon F, True WR, Veenema AH, Weaver IC, Williams LM, Yehuda R, Yehuda R, Zanatta MS   +71 more
core   +4 more sources

Five years results after intrafamilial kidney post-transplant in a case of familial hypomagnesemia due to a claudin-19 mutation

Brazilian Journal of Nephrology, 2014
Introduction: Familial Hypomagnesaemia with hypercalciuria and nephrocalcinosis, with severe ocular impairment secondary to claudin-19 mutation, is a rare recessive autossomic disorder. Its spectrum includes renal Mg2+ wasting, medullary nephrocalcinosis
Jorge Reis Almeida, Gabriel de Almeida Machado, Márcia Maria Guimarães dos Santos, Patricia de Fátima Lopes, Jorge Paulo Strogoff de Matos, Aderbal Cypriano Neves, Jocemir Ronaldo Lugon   +6 more
doaj   +1 more source