Zobrazeno 1 - 7
of 7
pro vyhledávání: '"S B, Copelli"'
Publikováno v:
Medicina (Buenos Aires), Vol 63, Iss 3, Pp 237-248 (2003)
El carcinoma de esófago existe en dos formas principales: el carcinoma de células escamosas o pavimentoso y el adenocarcinoma. En este artículo se describen las principales alteraciones genéticas halladas en ambos tipos de carcinomas y la implica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doajarticles::5f95127161de7f1a6a9238fb0f4ab481
http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S0025-76802003000300012
http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S0025-76802003000300012
Autor:
S B, Copelli, S, Lumbroso, F, Audran, E H, Pellizzari, J J, Heinrich, S B, Cigorraga, C, Sultan, H E, Chemes
Publikováno v:
Asian journal of andrology. 1(1-2)
To study a 46, XY newborn patient with a phenotype suggestive of an androgen insensitivity syndrome to confirm an anomaly in the AR gene.Genomic DNA from leukocytes was isolated in order to analyze SRY gene by PCR and sequencing of the eight exons of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5a8dc9a72b0fbb5315c876d3afe39536
https://pubmed.ncbi.nlm.nih.gov/11225909
https://pubmed.ncbi.nlm.nih.gov/11225909
Autor:
T Pasqualini, S B Copelli
Publikováno v:
Journal of pediatric endocrinologymetabolism : JPEM. 13(5)
We report two phenotypically and genetically different diseases in the same family. One patient presented with Turner phenotype as a result of chromosomal mosaicism 45,X/46,X, inv(X)(q21;q24) (30%/70%). Her father's sister showed 46,XY female gonadal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5d50dc19740a70ac1989765364de75b
https://pubmed.ncbi.nlm.nih.gov/10803875
https://pubmed.ncbi.nlm.nih.gov/10803875
Publikováno v:
Medicina. 59(5 Pt 1)
A lot of evidence supports the existence of a monoclonal origin for pituitary tumors, and several genetic alterations have already been confirmed as necessary or sufficient for unrestrained cellular growth and pituitary function. The p53 gene, a know
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fc2ba67b10a9bafca2c7df0a1a492f07
https://pubmed.ncbi.nlm.nih.gov/10684166
https://pubmed.ncbi.nlm.nih.gov/10684166
Autor:
S B, Copelli, C, Bergadá, A E, Billerbeck, A C, Goldberg, J, Kalil, D, Damiani, H M, Targovnik
Publikováno v:
Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas. 29(6)
The SRY (sex region of Y) gene determines testis formation but not all cases of sex reversal in humans can be explained by alterations in this gene. We studied one 46,XY female, four 46,XX males, and nine true hermaphrodites (TH): three with an XY an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0214b281923853cdaaf44fe4dc20b9ff
https://pubmed.ncbi.nlm.nih.gov/9070386
https://pubmed.ncbi.nlm.nih.gov/9070386
Autor:
H M, Targovnik, V, Varela, G D, Frechtel, G E, Cerrone, S B, Copelli, F V, Propato, F, Mendive
Publikováno v:
Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas. 27(12)
1. Hereditary goiter and the various degrees of thyroid hypofunction are the result of structural changes in the thyroglobulin (Tg) or thyroperoxidase (TPO) proteins, the inability to couple iodotyrosines or defective iodination, impairing or substan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9c3d87ab464824a9cdd2b35205a8a47c
https://pubmed.ncbi.nlm.nih.gov/7549998
https://pubmed.ncbi.nlm.nih.gov/7549998
Autor:
D Damiani, Viviana Varela, C Bergadá, A Goldberg, S. B. Copelli, A E Billerbeck, Héctor M. Targovnik
Publikováno v:
Pediatric Research. 36:675-675
The aim of our work was to investigate the testicular differentiation mechanism in true hermaphrodites with karyotype XX in order to study the SRY gene and Y heterochromatic region (Yql2-Yqter) by PCR (Polymerase chain Reaction) in these patients and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ed9401ec052b6c5a618f2e60f9cf5e8b
https://doi.org/10.1203/00006450-199411000-00045
https://doi.org/10.1203/00006450-199411000-00045