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Medical Genetics
| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
|---|---|---|---|
| 1 |
Material Type: Artigo
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Chromosome imbalances in syndromic hearing lossCatelani, ALPM ; Krepischi, ACV ; Kim, CA ; Kok, F ; Otto, PA ; Auricchio, MTBM ; Mazzeu, JF ; Uehara, DT ; Costa, SS ; Knijnenburg, J ; Tabith Jr, A ; Vianna-Morgante, AM ; Mingroni-Netto, RC ; Rosenberg, CClinical genetics, 2009-11, Vol.76 (5), p.458-464 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
| 2 |
Material Type: Artigo
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A PCR-based test suitable for screening for fragile X syndrome among mentally retarded malesHADDAD, L. A ; MINGRONI-NETTO, R. C ; VIANNA-MORGANTE, A. M ; PENA, S. D. JHuman genetics, 1996-06, Vol.97 (6), p.808-812 [Periódico revisado por pares]Heidelberg: SpringerTexto completo disponível |
| 3 |
Material Type: Artigo
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FRAXF in a patient with chromosome 8 duplicationVianna-Morgante, A M ; Mingroni-Netto, R C ; Barbosa, A C ; Otto, P A ; Rosenberg, CJournal of medical genetics, 1996-07, Vol.33 (7), p.611-614 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
| 4 |
Material Type: Artigo
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A novel autosomal dominant deafness locus (DFNA58) maps to 2p12-p21. Authors' replyLEZIROVITZ, K ; BRAGA, M. C. C ; THIELE-AGUIAR, R. S ; AURICCHIO, M. T. B. M ; PEARSON, P. L ; OTTO, P. A ; MINGRONI-NETTO, R. CClinical genetics, 2009, Vol.75 (5), p.490-493 [Periódico revisado por pares]Oxford: Wiley-BlackwellTexto completo disponível |
| 5 |
Material Type: Artigo
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DXS548/FRAXAC1 haplotypes in fragile X chromosomes in the Brazilian population: X-linked mental retardation. Part IIMINGRONI-NETTO, R. C ; COSTA, S. S ; ANGELI, C. B ; VIANNA-MORGANTE, A. MAmerican journal of medical genetics, 1999, Vol.84 (3), p.204-207 [Periódico revisado por pares]New York, NY: Wiley-LissTexto completo disponível |
| 6 |
Material Type: Artigo
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Fully mutated and gray-zone FRAXA alleles in brazilian mentally retarded boys: X-linked mental retardation. Part IIHADDAD, L. A ; AGUIAR, M. J. B ; COSTA, S. S ; MINGRONI-NETTO, R. C ; VIANNA-MORGANTE, A. M ; PENA, S. D. JAmerican journal of medical genetics, 1999, Vol.84 (3), p.198-201 [Periódico revisado por pares]New York, NY: Wiley-LissTexto completo disponível |
| 7 |
Material Type: Artigo
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Distribution of CGG repeats and FRAXAC1/DXS548 alleles in South American populationsMingroni-Netto, Regina Célia ; Angeli, Claudia B. ; Auricchio, Maria Teresa B.M. ; Leal-Mesquita, Emygdia R. ; Ribeiro-dos-Santos, Ândrea K.C. ; Ferrari, Iris ; Hutz, Mara H. ; Salzano, Francisco M. ; Hill, Kim ; Hurtado, A. Magdalena ; Vianna-Morgante, Angela M.American journal of medical genetics, 2002-08, Vol.111 (3), p.243-252 [Periódico revisado por pares]New York: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
| 8 |
Material Type: Artigo
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The number of CGG repeats of the FMR1 locus in premutated and fully mutated heterozygotes and their offspring : Implications for the origin of mosaicism: X-Linked mental retardation. Part IIMINGRONI-NETTO, R. C ; HADDAD, L. A ; VIANNA-MORGANTE, A. MAmerican journal of medical genetics, 1996, Vol.64 (2), p.270-273New York, NY: Wiley-LissTexto completo disponível |
| 9 |
Material Type: Artigo
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Relationship of expansion of CGG repeats and X-inactivation with expression of Fra(X)(q27.3) in heterozygotes: X-linked mental retardationMINGRONI-NETTO, R. C ; FERNANDES, J. G ; VIANNA-MORGANTE, A. MAmerican journal of medical genetics, 1994, Vol.51 (4), p.443-446New York, NY: Wiley-LissTexto completo disponível |
| 10 |
Material Type: Artigo
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Fragile X premutation is a significant risk factor for premature ovarian failure : The international collaborative POF in fragile X study : Preliminary data: X-linked mental retardation, Part IALLINGHAM-HAWKINS, D. J ; BABUL-HIRJI, R ; JENKINS, E. C ; BROWN, W. T ; HOWARD-PEEBLES, P. N ; BECCHI, C ; CUMMINGS, E ; FALLON, L ; SEITZ, S ; BLACK, S. H ; VIANNA-MORGANTE, A. M ; COSTA, S. S ; CHITAYAT, D ; OTTO, P. A ; MINGRONI-NETTO, R. C ; MURRAY, A ; WEBB, J ; MACSWINNEY, F ; DENNIS, N ; JACOBS, P. A ; SYRROU, M ; GEORGIOU, I ; PATSALIS, P. C ; HOLDEN, J. J. A ; GIOVANNUCCI UZIELLI, M. L ; GUARDUCCI, S ; LAPI, E ; CECCONI, A ; RICCI, U ; RICOTTI, G ; BIONDI, C ; SCARSELLI, B ; VIERI, F ; YANG, K. T ; LEE, C ; HUDSON, R ; GORWILL, H ; NOLIN, S. L ; GLICKSMAN, AAmerican journal of medical genetics, 1999, Vol.83 (4), p.322-325New York, NY: Wiley-LissTexto completo disponível |
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Assunto
- Chromosome Fragility (8)
- Genetics & Heredity (4)
- Life Sciences & Biomedicine (4)
- Science & Technology (4)
- Humans (4)
- Fragile X Syndrome - Genetics (3)
- Female (3)
- Ear, Auditive Nerve, Cochleovestibular Tract, Facial Nerve: Diseases, Semeiology (2)
- Genetics Of Eukaryotes. Biological And Molecular Evolution (2)
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- Child (2)
- Alleles (2)
- Fundamental And Applied Biological Sciences. Psychology (2)
- Male (2)
- Nerve Tissue Proteins - Genetics (2)
- General Aspects. Genetic Counseling (2)
- Fragile X Mental Retardation Protein (2)
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