Zobrazeno 1 - 10 of 115 pro vyhledávání: '"X fragile syndrome"'
1
Sujeitos e linguagem na Síndrome do X/Frágil
Autor: Silva, Michelli Alessandra, 1980
Publikováno v: Biblioteca Digital de Teses e Dissertações da Universidade Estadual de Campinas (UNICAMP)
Universidade Estadual de Campinas (UNICAMP)
instacron:UNICAMP
Orientador: Maria Irma Hadler Coudry Tese (doutorado) - Universidade Estadual de Campinas, Instituto de Estudos da Linguagem Resumo: Neste trabalho, apresento um conjunto de investigações sobre a linguagem na Síndrome do X-Frágil (abreviada como
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::255a5a4bbc412bd5749400137e755376
https://doi.org/10.47749/t/unicamp.2014.928760
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2
Síndrome do X frágil: breve revisão e relato de caso
Autor: Laiamma Ribeiro do Amaral, Hugo Christiano Soares Melo
Publikováno v: Evidência, Vol 17, Iss 2 (2017)
A Síndrome do X Frágil é considerada a maior causa de retardo mental herdado, e a segunda causa genética mais comum de deficiência mental. Ela atinge todos os grupos étnicos e raças, porém tem pouca prevalência. Estima-se que a cada 1000 cri
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d80d685497ebe94859006b77c3b01b9d
https://doi.org/10.18593/eba.v17i2.16146
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3
Transição para a Vida Pós-Escolar: Participação de um aluno com Síndrome de X-Frágil em atividades escolares, sociais e laborais
Autor: Vigário, Paula Cristina Nicolau Vitorino Gonçalves
Publikováno v: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Projeto de Intervenção apresentado à Escola Superior de Educação de Lisboa para obtenção de grau de Mestre em Educação Especial Submitted by Rui Teófilo (ruit@eselx.ipl.pt) on 2020-02-07T10:11:48Z No. of bitstreams: 1 Participação de um j
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3056::d3ab5f7e55036b815bdde04aa7e85eb3
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4
Genetic testing in patients with global developmental delay / intellectual disabilities. A review
Autor: Ioan Victor Pop, Loredana Peca, Zina Cuzmici, Diana Miclea
Publikováno v: Clujul Medical
Genetic factors are responsible for up to 40 % developmental disability cases, such as global developmental delay/ intellectual disability (GDD/DI). The American and more recently, the European guidelines on this group of diseases state that genetic
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5eb10aa131f28b007d7c21ec11f1aace
http://europepmc.org/articles/PMC4632884
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5
Síndrome X Frágil: eficacia en el ensayo experimental con antioxidantes de un trastorno genético del neurodesarrollo infantil
Autor: Calvo Medina, Rocío
Publikováno v: RIUMA. Repositorio Institucional de la Universidad de Málaga
instname
La principal causa hereditaria de trastornos del desarrollo infantil, que cursa con discapacidad intelectual, es el Síndrome X frágil (SXF), afecta a 1 de cada 2600 recién nacidos. A pesar de ser una de las enfermedades hereditarias de la infancia
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::29583b9a3f41a0e1a1f75bf379a44138
http://hdl.handle.net/10630/12468
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7
CONVERSATIONAL SKILLS OF INDIVIDUALS WITH FRAGILE-X SYNDROME: A COMPARISON WITH AUTISM AND DOWN SYNDROME
Autor: Jennifer Johnston, Anthony S. Bashir, David L. Meryash, Peter H. Wolff, Linda J. Ferrier
Publikováno v: Developmental Medicine & Child Neurology. 33:776-788
UMMARY The conversational skills of 18 individuals with fragile-X syndrome (FXS) were compared with those of two other matched groups with autism and Down syndrome. The FXS group used more eliciting forms in conversation than those with Down syndrome
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a86e3cecef821e7223a1c350abd159dd
https://doi.org/10.1111/j.1469-8749.1991.tb14961.x
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8
The female and the fragile X syndrome: data on clinical and psychological findings in 7 fra(X) carriers
Autor: Martine Borghgraef, H. Van den Berghe, J. P. Fryns
Publikováno v: Clinical Genetics. 37:341-346
In this report we present precise data on the clinical, intellectual and behavioural findings in 7 young fra(X) positive girls. The two most common and most important findings are an overgrowth syndrome present from birth on and common behavioural fe
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c37d964d705af4544d488f50e04ffea7
https://doi.org/10.1111/j.1399-0004.1990.tb03516.x
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9
Simultaneous expression of the rare and common fragile sites on the X chromosome
Autor: Ann-Leslie Zaslav, W. Ted Brown
Publikováno v: Clinical Genetics. 40:423-429
The fragile X [fra(X)] syndrome is the most common inherited form of X-linked mental retardation and is associated with a rare folate sensitive fragile site on the X chromosome at band Xq27.3. Recently, a common fragile site located at chromosome ban
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a836842e6a451ed14571fcce78974c7
https://doi.org/10.1111/j.1399-0004.1991.tb03113.x
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10
The common fragile site in band q27 of the human X chromosome is not coincident with the fragile X
Autor: Grant R. Sutherland, Elizabeth Baker
Publikováno v: Clinical Genetics. 37:167-172
The common fragile site on the end of the long arm of the human X chromosome has been shown to be at a different location from the rare fragile site which produces the fragile X syndrome of intellectual handicap. The different locations can be clearl
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d6f111f5d1114ea10c37f9d40dc35d8
https://doi.org/10.1111/j.1399-0004.1990.tb03498.x
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