G.X. Wang, D.W. Wang, J.S. Zhao, S.F. Wang, R.P. SunPublished: January 25, 2011Genet. Mol. Res. 10(1): 107-113DOI: https://doi.org/10.4238/vol10-1gmr977 Cite this Article:G.X. Wang, D.W. Wang, J.S. Zhao, S.F. Wang, R.P. Sun (2011). A novel TSC1 mutation (c.1964delA) in a Chinese patient with tuberous sclerosis complex. Genet. Mol. Res. 10(1): 107-113. https://doi.org/10.4238/vol10-1gmr977 About the AuthorsG.X. Wang, D.W. […]
Tetraploidization in Wilms tumor in an infant
E.T. Valera, M.S. Brassesco, C.A. Scrideli and L.G. TonePublished August 10, 2010Genet. Mol. Res. 9 (3): 1577-1581 (2010)DOI 10.4238/vol9-3gmr880 About the AuthorsE.T. Valera, M.S. Brassesco, C.A. Scrideli and L.G. Tone Corresponding author: E.T. ValeraE-mail: etvalera@hcrp.fmrp.usp.br ABSTRACT Genetic instability is frequent in human cancer. Unscheduled tetraploidization can trigger cell transformation and tumorigenesis. We made a cytogenetic analysis by […]
Molecular characterisation of a der(Y)t(Xp;Yp) with Xp functional disomy and sex reversal
F. Ashton, R. O Connor, J.M. Love, E. Doherty, S. Aftimos, A. George and D.R. LovePublished September 14, 2010Genet. Mol. Res. 9 (3): 1815-1823 (2010)DOI 10.4238/vol9-3gmr896 About the AuthorsF. Ashton, R. O Connor, J.M. Love, E. Doherty, S. Aftimos, A. George and D.R. Love Corresponding author: D.R. LoveE-mail: donaldl@adhb.govt.nz ABSTRACT Sex reversal due to duplication of […]
Cytogenetic findings in an epithelioid sarcoma with angiomatoid features.A case report
M.S. Brassesco, E.T. Valera, A.M. Castro-Gamero, D.A. Moreno, T.P. Silveira, B.M. Mori, E.E. Engel, C.A. Scrideli, L.G. TonePublished: October 06, 2009Genet. Mol. Res. 8 (4) : 1211-1217DOI: https://doi.org/10.4238/vol8-4gmr656 Cite this Article:M.S. Brassesco, E.T. Valera, A.M. Castro-Gamero, D.A. Moreno, T.P. Silveira, B.M. Mori, E.E. Engel, C.A. Scrideli, L.G. Tone (2009). Cytogenetic findings in an epithelioid sarcoma […]
Oropharyngeal dysphagia and language delay in partial trisomy 9p: case report
N.F. Rossi, A.R. Gatto, P.C. Cola, D.H. Souza, D. Moretti-Ferreira, C.M. GiachetiPublished: September 22, 2009Genet. Mol. Res. 8 (3) : 1133-1138DOI: https://doi.org/10.4238/vol8-3gmr621Cite this Article:N.F. Rossi, A.R. Gatto, P.C. Cola, D.H. Souza, D. Moretti-Ferreira, C.M. Giacheti (2009). Oropharyngeal dysphagia and language delay in partial trisomy 9p: case report. Genet. Mol. Res. 8(3): 1133-1138. https://doi.org/10.4238/vol8-3gmr621About the AuthorsN.F. […]
Oropharyngeal dysphagia and language delay in partial trisomy 9p: case report
N.F. Rossi, A.R. Gatto, P.C. Cola, D.H. Souza, D. Moretti-Ferreira, C.M. GiachetiPublished: September 22, 2009Genet. Mol. Res. 8 (3) : 1133-1138DOI: https://doi.org/10.4238/vol8-3gmr621 Cite this Article:N.F. Rossi, A.R. Gatto, P.C. Cola, D.H. Souza, D. Moretti-Ferreira, C.M. Giacheti (2009). Oropharyngeal dysphagia and language delay in partial trisomy 9p: case report. Genet. Mol. Res. 8(3): 1133-1138. https://doi.org/10.4238/vol8-3gmr621 About […]
MOMO syndrome associated with autism: a case report
C.T. Giunco, D. Moretti-Ferreira, A.E. Silva, S.S. Rocha, A.C. Fett-ContePublished: November 02, 2008Genet. Mol. Res. 7 (4) : 1223-1225DOI: https://doi.org/10.4238/vol7-4gmr522 Cite this Article:C.T. Giunco, D. Moretti-Ferreira, A.E. Silva, S.S. Rocha, A.C. Fett-Conte (2008). MOMO syndrome associated with autism: a case report. Genet. Mol. Res. 7(4): 1223-1225. https://doi.org/10.4238/vol7-4gmr522 About the AuthorsC.T. Giunco, D. Moretti-Ferreira, A.E. Silva, […]
association between a new 3q;5q chromosomaltranslocation and dystrophy of human retinalpigment epithelium
S.R.F. Pereira, A.S. Silva, E.P. Bormann, O. KuppingerPublished December 4, 2007Genet. Mol. Res. 6 (4): 1085-1090 (2007) About the authorsS.R.F. Pereira, A.S. Silva, E.P. Bormann, O. Kuppinger Corresponding authorS.R.F. PereiraE-mail: silmaregina@yahoo.com.br ABSTRACT Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal degeneration. This group of disorders essentially leads to blindness due to mutations in […]
First-trimester prenatal diagnosis of pyruvate kinase deficiency in an Indian family with the pyruvate kinase-Amish mutation
P.S. Kedar, S. Nampoothiri, S. Sreedhar, K. Ghosh, K. Shimizu, H. Kanno and R.B. ColahPublished June 30, 2007Genet. Mol. Res. 6 (2): 470-475 (2007) About the AuthorsP.S. Kedar, S. Nampoothiri, S. Sreedhar, K. Ghosh, K. Shimizu, H. Kanno and R.B. Colah Corresponding authorR.B. ColahE-mail: colahrb@gmail.com ABSTRACT Pyruvate kinase (PK) deficiency is a rare red cell […]
Molecular cytogenetic analysis of a ring-Y infertile male patient
F.M. Carvalho, E.V. Wolfgramm, I. Degasperi, B.M. Verbeno, B.A. Vianna, F.F. Chagas, F. Paula, I.D. Louro, A. M.S. Perroni Published: March 09, 2007 Genet. Mol. Res. 6 (1) : 59-66 Cite this Article: F.M. Carvalho, E.V. Wolfgramm, I. Degasperi, B.M. Verbeno, B.A. Vianna, F.F. Chagas, F. Paula, I.D. Louro, A.M.S. Perroni (2007). Molecular cytogenetic analysis of […]