Zobrazeno 1 - 5
of 5
pro vyhledávání: '"C. M. Erwenne"'
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 37, Iss 4, Pp 420-423 (1979)
Os autores relatam um caso de um paciente do sexo masculino com 12 anos de idade e que desde os 10 anos apresenta oftalmoplegia progressiva completa associada a ptose palpebral. O exame eletromiográfico mostrou alterações de padrão miopático em
Externí odkaz:
https://doaj.org/article/d715c03ba86d4e49afc0b9cc33d5fc67
Publikováno v:
Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas. 26(10)
Inactivation of the Rb (retinoblastoma) tumor suppressor gene is associated with hereditary and sporadic cases of retinoblastoma and other Rb-related tumors. Early diagnosis and genetic counseling heavily depend on practical methods for the detection
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::817c3b1a81de6b7689601f9c9719c941
https://pubmed.ncbi.nlm.nih.gov/7906172
https://pubmed.ncbi.nlm.nih.gov/7906172
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 37, Iss 4, Pp 420-423 (1979)
Repositório Institucional da UNIFESP
Universidade Federal de São Paulo (UNIFESP)
instacron:UNIFESP
Repositório Institucional da UNIFESP
Universidade Federal de São Paulo (UNIFESP)
instacron:UNIFESP
A case of progressive ophtalmoplegia and ptosis afecting a 12 year old boy is reported. A miopatic pattern was detected by the electromyography, the cerebrospinal fluid showed an increase of the protein content and retinal pigmentary degeneration was
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e23bee3c72d4a24bb66969340590061
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1979000400008&lng=en&tlng=en
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1979000400008&lng=en&tlng=en
Publikováno v:
Arquivos de neuro-psiquiatria. 37(4)
A case of progressive ophtalmoplegia and ptosis affecting a 12 year old boy is reported. A miopatic pattern was detected by the electromyography, the cerebrospinal fluid showed an increase of the protein content and retinal pigmentary degeneration wa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3b0d7776944526fe9423a30b3e345cff
https://pubmed.ncbi.nlm.nih.gov/533389
https://pubmed.ncbi.nlm.nih.gov/533389
Publikováno v:
Cancer genetics and cytogenetics. 32(2)
Fifteen retinoblastoma patients were studied cytogenetically using G- and R-banding techniques. One patient showed 13q-mosaicism. It is suggested that a postzygotic deficiency in mosaic cases and in tumoral cells may be secondary to germinal mutation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::43891733c68e3792560d18917f02e205
https://pubmed.ncbi.nlm.nih.gov/3365680
https://pubmed.ncbi.nlm.nih.gov/3365680