Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Regina C. Mingroni-Netto"'
Autor:
Gerson S. Kobayashi, Gleiciele A. Vieira-Silva, Elisa Varella-Branco, Danielle P. Moreira, João Paulo F.W. Kitajima, Claudia R.M.L. Hemza, Regina C. Mingroni-Netto, Fernando H. Lojudice, Jeanne Oiticica, Ricardo F. Bento, Ana C. Batissoco, Karina Lezirovitz
Publikováno v:
Stem Cell Research, Vol 71, Iss , Pp 103181- (2023)
The DFNA58 locus contains a genomic duplication involving three protein-coding genes (CNRIP1, PLEK, and PPP3R1′s exon 1) and other uncharacterized lncRNA genes (LOC101927723, LOC107985892 and LOC102724389). To clarify the role of these genes in hea
Externí odkaz:
https://doaj.org/article/855b29607a3a458690d0ee602118aa54
Autor:
Vitor G.L. Dantas, Karina Lezirovitz, Guilherme L. Yamamoto, Carolina Fischinger Moura de Souza, Simone Gomes Ferreira, Regina C. Mingroni-Netto
Publikováno v:
Genetics and Molecular Biology, Vol 37, Iss 4, Pp 616-621 (2014)
We studied a family presenting 10 individuals affected by autosomal dominant deafness in all frequencies and three individuals affected by high frequency hearing loss. Genomic scanning using the 50k Affymetrix microarray technology yielded a Lod Scor
Externí odkaz:
https://doaj.org/article/c364bfd91c294499bab93aaae51f8e5e
Autor:
Eliete Pardono, Juliana F. Mazzeu, Karina Lezirovitz, Maria Teresa B.M. Auricchio, Paula Iughetti, Rafaella M.P. Nascimento, Regina C. Mingroni-Netto, Paulo A. Otto
Publikováno v:
Genetics and Molecular Biology, Vol 29, Iss 4, Pp 601-604 (2006)
We describe two different novel mutations in the PAX3 gene, detected in two families with cases of Waardenburg syndrome type I (WSI). The missense mutation detected in one family involved a single substitution in exon 2 (c.142 G > T) and was present
Externí odkaz:
https://doaj.org/article/b238f0dc81c149b28f4296f915ae23cd
Publikováno v:
Genetics and Molecular Biology, Vol 28, Iss 1, Pp 10-15 (2005)
In order to investigate the stability of the FMR1 (Fragile X Mental Retardation 1) alleles from the normal population, when maternally inherited, we analyzed 75 mother-to-son transmissions. Sixty-eight alleles fell within the common range with 20-40
Externí odkaz:
https://doaj.org/article/5b9a6660c0b34bd892ba75f5015550a5
Autor:
Angela M. Vianna-Morgante, Silvia S. Costa, Rita de C.M. Pavanello, P.A. Otto, Regina C. Mingroni-Netto
Publikováno v:
Genetics and Molecular Biology, Vol 22, Iss 4, Pp 471-474 (1999)
The gynecological and reproductive histories of 193 women from fragile X families were surveyed. Among the 101 carriers of the premutation, 14 experienced premature menopause, contrarily to their 37 fully mutated and 55 noncarrier female relatives. A
Externí odkaz:
https://doaj.org/article/1a01192ca0194a96ade9ed62e78a03bb
Autor:
Altair Cadrobbi Pupo, Sulene Pirana, Mauro Spinelli, Karina Lezirovitz, Regina C. Mingroni Netto, Lisandra S. Macedo
Publikováno v:
Revista Brasileira de Otorrinolaringologia, Vol 74, Iss 5, Pp 786-789 (2008)
O presente estudo teve como objetivo descrever os achados audiológicos e genéticos de nove membros de uma família brasileira que apresenta a mutação no DNA mitocondrial. Todos os nove membros realizaram estudo genético, avaliação foniátrica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doajarticles::847a1bfb92a315a07864b8eb49bfc140
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0034-72992008000500023
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0034-72992008000500023
Autor:
Silviene F. Oliveira, Maria Angélica F. Pedrosa, Sandra M. B. Sousa, Regina C. Mingroni-Netto, Kiyoko Abe-Sandes, Íris Ferrari, Ana A. L. Barbosa, Maria Teresa B. M. Auricchio, Maria de Nazaré Klautau-Guimarães
Publikováno v:
International Journal of Human Genetics. 2:153-159
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c23575c2530bae70fc782c455f9c6759
https://doi.org/10.1080/09723757.2002.11885799
https://doi.org/10.1080/09723757.2002.11885799
Autor:
Uirá S, Melo, Silvana, Santos, Hannalice G, Cavalcanti, Wagner T, Andrade, Vitor G, Dantas, Marine Rd, Rosa, Regina C, Mingroni-Netto
Publikováno v:
International journal of molecular epidemiology and genetics. 5(1)
The overall aim of this study was to estimate the contribution of genetic factors to the etiology of hearing loss (HL) in two counties in the Brazilian northeastern region. A cross-sectional study, based on the key informant approach (KI) was conduct
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6ab836a651126f21bdb4c2aacbbbc0ac
https://pubmed.ncbi.nlm.nih.gov/24596593
https://pubmed.ncbi.nlm.nih.gov/24596593
Autor:
Karina Lezirovitz, Eliete Pardono, Maria TB de Mello Auricchio, Fernando L de Carvalho e Silva, Juliana J Lopes, Ronaldo S Abreu-Silva, Jihane Romanos, Ana C Batissoco, Regina C Mingroni-Netto
Publikováno v:
European Journal of Human Genetics. 16:660-660
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::466f9c58e25b58f3b75659d604a1043c
https://doi.org/10.1038/sj.ejhg.20082
https://doi.org/10.1038/sj.ejhg.20082
Autor:
Renan B Lemes, Kelly Nunes, Juliana E P Carnavalli, Lilian Kimura, Regina C Mingroni-Netto, Diogo Meyer, Paulo A Otto
Publikováno v:
PLoS ONE, Vol 13, Iss 4, p e0196360 (2018)
The analysis of genomic data (~400,000 autosomal SNPs) enabled the reliable estimation of inbreeding levels in a sample of 541 individuals sampled from a highly admixed Brazilian population isolate (an African-derived quilombo in the State of São Pa
Externí odkaz:
https://doaj.org/article/1dabe12456ed40d59d517e060af7717e