Publicações

2006

Abreu-Silva RS, Batissoco AC, Lezirovitz K, Romanos J, Rincon D, Auricchio MT, Otto PA, Mingroni-Netto RC.  Correspondence regarding Ballana et al., “Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment”. Biochem Biophys Res Commun. 2006 May 12;343(3):675-6. Epub 2006 Mar 20.

Abreu-Silva RS, Lezirovitz K, Braga MC, Spinelli M, Pirana S, Della-Rosa VA, Otto PA, Mingroni-Netto RC.  Prevalence of the A1555G (12S rRNA) and tRNASer(UCN) mitochondrial mutations in hearing-impaired Brazilian patients. Braz J Med Biol Res. 2006 Feb;39(2):219-26. Epub 2006 Feb 2.

Barbosa JA, Netto LE, Farah CS, Schenkman S, Meneghini R.  The structural molecular biology network of the State of São Paulo, Brazil. An Acad Bras Cienc. 2006 Jun;78(2):241-53. Epub 2006 May 11.

 

Batista LF, Chiganças V, Brumatti G, Amarante-Mendes GP, Menck CF.  Involvement of DNA replication in ultraviolet-induced apoptosis of mammalian cellsApoptosis. 2006 Jul;11(7):1139-48.

 

Canhão H, Ferreira R, Costa L, Romeu JC, Fonseca JE, Branco J, Barros H.  [Normative data for quantitative ultrasound measurement of the calcaneus in a Portuguese population]  Acta Reumatol Port. 2006 Jan-Mar;31(1):65-73.

 

Cheroki C, Krepischi-Santos AC, Rosenberg C, Jehee FS, Mingroni-Netto RC, Pavanello Filho I, Zanforlin Filho S, Kim CA, Bagnoli VR, Mendonça BB, Szuhai K, Otto PA.  Report of a del22q11 in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) anomaly and exclusion of WNT-4, RAR-gamma, and RXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women. Am J Med Genet A. 2006 Jun 15;140(12):1339-42.

 

 

Costa SS., Fonseca AM, Bagnoli VR., Vianna-Morgante AM.  The FMR1 premutation as a cause of premature ovarian failure in Brazilian women. Genet. Mol. Biol. [online]. 2006, vol.29, n.3, pp. 423-428.

 

da Fonseca IP, Ramos PS, Ruano FA, Duarte AP, Costa JC, Almeida AC, Falcão ML, Fazendeiro MI.  Efficacy of commercial cleansing procedures in eliminating Cryptosporidium parvum oocysts from bivalves. J Eukaryot Microbiol. 2006;53 Suppl 1:S49-51.

 

Demasi AP, Pereira GA, Netto LE.  Yeast oxidative stress response. Influences of cytosolic thioredoxin peroxidase I and of the mitochondrial functional state. FEBS J. 2006 Feb;273(4):805-16.

 

D’Angelo CS, Da Paz JA, Kim CA, Bertola DR, Castro CI, Varela MC, Koiffmann CP.  Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems. Eur J Med Genet. 2006 Nov-Dec;49(6):451-60. Epub 2006 Mar 10.

 

Errera FI, Silva ME, Yeh E, Maranduba CM, Folco B, Takahashi W, Pereira AC, Krieger JE, Passos-Bueno MR.  Effect of polymorphisms of the MTHFR and APOE genes on susceptibility to diabetes and severity of diabetic retinopathy in Brazilian patients. Braz J Med Biol Res. 2006 Jul;39(7):883-8.

 

Fonseca AC, Dean HK, Cortés J.  Non-colonial coral macro-borers as indicators of coral reef status in the South Pacific of Costa Rica. Rev Biol Trop. 2006 Mar;54(1):101-15.

 

Gouveia TL, Paim JF, Pavanello RC, Zatz M, Vainzof M.  Sarcoglycanopathies: a multiplex molecular analysis for the most common mutations. Diagn Mol Pathol. 2006 Jun;15(2):95-100.

 

Jehee FS, Alonso LG, Cavalcanti DP, Kim C, Wall SA, Mulliken JB, Sun M, Jabs EW, Boyadjiev SA, Wilkie AO, Passos-Bueno MR.  Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients. Cleft Palate Craniofac J. 2006 Mar;43(2):148-51.

 

Krepischi-Santos AC, Vianna-Morgante AM, Jehee FS, Passos-Bueno MR, Knijnenburg J, Szuhai K, Sloos W, Mazzeu JF, Kok F, Cheroki C, Otto PA, Mingroni-Netto RC, Varela M, Koiffmann C, Kim CA, Bertola DR, Pearson PL, Rosenberg C.   Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations. Cytogenet Genome Res. 2006;115(3-4):254-61.

 

Krepischi-Santos AC, Vianna-Morgante AM, Jehee FS, Passos-Bueno MR, Knijnenburg J, Szuhai K, Sloos W, Mazzeu JF, Kok F, Cheroki C, Otto PA, Mingroni-Netto RC, Varela M, Koiffmann C, Kim CA, Bertola DR, Pearson PL, Rosenberg C.  Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterationsCytogenet Genome Res. 2006;115(3-4):254-61.

 

 

Kriek M, Szuhai K, Kant SG, White SJ, Dauwerse H, Fiegler H, Carter NP, Knijnenburg J, den Dunnen JT, Tanke HJ, Breuning MH, Rosenberg C.  A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance. Hum Genet. 2006 Aug;120(1):77-84. Epub 2006 May 18.

 

Lezirovitz K, Nicastro FS, Pardono E, Abreu-Silva RS, Batissoco AC, Neustein I, Spinelli M, Mingroni-Netto RC.  Is autosomal recessive deafness associated with oculocutaneous albinism a “coincidence syndrome”? J Hum Genet. 2006;51(8):716-20. Epub 2006 Jul 26.

 

Lima-Bessa KM, Chiganças V, Stary A, Kannouche P, Sarasin A, Armelini MG, de Fátima Jacysyn J, Amarante-Mendes GP, Cordeiro-Stone M, Cleaver JE, Menck CF.   Adenovirus mediated transduction of the human DNA polymerase eta cDNA. DNA Repair (Amst). 2006 Aug 13;5(8):925-34. Epub 2006 Jun 23.

 

Maranduba CM, Friesema EC, Kok F, Kester MH, Jansen J, Sertié AL, Passos-Bueno MR, Visser TJ.  Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter. J Med Genet. 2006 May;43(5):457-60. Epub 2005 Jun 24.

 

Marchetto MC, Correa RG, Menck CF, Muotri AR.  Functional lentiviral vectors for xeroderma pigmentosum gene therapy. J Biotechnol. 2006 Dec 1;126(4):424-30. Epub 2006 Jun 3.

 

Melo PC, Teodosio J, Reis J, Duarte A, Costa JC, Fonseca IP.  Cryptosporidium spp. in freshwater bivalves in Portugal. J Eukaryot Microbiol. 2006;53 Suppl 1:S28-9.

PUBMED    PDF

http://www.ncbi.nlm.nih.gov/pubmed/17169059

Miglino MA, Giglio RF, Baliero JCC, Sterman FA, Pinto ACBCF, Zatz M, Ferrigno CRA.  Estudo longitudinal da densidade mineral óssea em cães jovens da raça Golden Retriever: Correlações com idade e peso corpóreo. Brazi J Vet Res Anim Sci 2006; 43:681-687.

 

Nascimento RM, Otto PA, de Brouwer AP, Vianna-Morgante AM.  UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome.  Am J Hum Genet. 2006: 79(3):549-55.

 

Nascimento RM, Otto PA, de Brouwer AP, Vianna-Morgante AM.  UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome. Am J Hum Genet. 2006 Sep;79(3):549-55. Epub 2006 Jul 3.

 

Nunes VA, Cavaçana N, Canovas M, Strauss BE, Zatz M.  Stem cells from umbilical cord blood differentiate into myotubes and express dystrophin in vitro only after exposure to in vivo muscle environment. Biol Cell. 2007 Apr;99(4):185-96.

 

Oliveira MA, Guimarães BG, Cussiol JR, Medrano FJ, Gozzo FC, Netto LE.  Structural insights into enzyme-substrate interaction and characterization of enzymatic intermediates of organic hydroperoxide resistance protein from Xylella fastidiosaJ Mol Biol. 2006 Jun 2;359(2):433-45. Epub 2006 Apr 7.

 

Oliveira NA, Alonso LG, Fanganiello RD, Passos-Bueno MR.  Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion. Birth Defects Res A Clin Mol Teratol. 2006 Aug;76(8):629-33.

 

Otto PA, Mingroni-Netto RC, Vianna-Morgante AM.  Princípios de Genética Humana e Médica.  In: Lopes AC; Amato Neto V. (Org.). Tratado de Clínica Médica. São Paulo: Editora Roca, 2006, v. I, p. 280-311.

Padorno E, Mazzeu JF, Lezirovitz K., Auricchio MTBM.  Waardenburg syndrome: description of two novel mutations in the PAX3 gene, one of which incompletely penetrant. Genet Mol Biol 2006; 29: 601 – 604.

 

Passos-Bueno MR, Suzuki OT, Armelin-Correa LM, Sertié AL, Errera FI, Bagatini K, Kok F, Leite KR.  Mutations in collagen 18A1 and their relevance to the human phenotype. An Acad Bras Cienc. 2006 Mar;78(1):123-31. Epub 2006 Mar 8.

 

Ramos F, Figueira R, Fonseca JE, Canhão H, Mouzinho A, Valente P, Costa JT, Queiroz MV.  [Juvenile cutaneous polyarteritis nodosa associated with streptococcal infection]  Acta Reumatol Port. 2006 Jan-Mar;31(1):83-8.

 

Rosenberg C, Knijnenburg J, Bakker E, Vianna-Morgante AM, Sloos W, Otto PA, Kriek M, Hansson K, Krepischi-Santos AC, Fiegler H, Carter NP, Bijlsma EK, van Haeringen A, Szuhai K, Tanke HJ.  Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents.  J Med Genet. 2006 Feb;43(2):180-6. Epub 2005 Jun 24.

 

 

Rozenberg R, Kok F, Burin MG, Sá Miranda MC, Vasques C, Henriques-Souza AM, Giugliani R, Vainzof M, Pereira LV.  Diagnosis and molecular characterization of non-classic forms of Tay-Sachs disease in Brazil.  J Child Neurol. 2006 Jun;21(6):540-4.

 

Shaw-Smith C, Pittman AM, Willatt L, Martin H, Rickman L, Gribble S, Curley R, Cumming S, Dunn C, Kalaitzopoulos D, Porter K, Prigmore E, Krepischi-Santos AC, Varela MC, Koiffmann CP, Lees AJ, Rosenberg C, Firth HV, de Silva R, Carter NP.   Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. Nat Genet. 2006 Sep;38(9):1032-7. Epub 2006 Aug 13.

 

Szuhai K, Ijszenga M, Tanke HJ, Rosenberg C, Hogendoorn PC.  Molecular cytogenetic characterization of four previously established and two newly established Ewing sarcoma cell lines. Cancer Genet Cytogenet. 2006 Apr 15;166(2):173-9.

 

Tedrus GM, Fonseca LC, Tonelotto JM, Costa RM, Chiodi MG.  Benign childhood epilepsy with centro-temporal spikes: quantitative EEG and the Wechsler intelligence scale for children (WISC-III). Clin EEG Neurosci. 2006 Jul;37(3):193-7.

 

 

Tonini MM, Lemmers RJ, Pavanello RC, Cerqueira AM, Frants RR, van der Maarel SM, Zatz M.  Equal proportions of affected cells in muscle and blood of a mosaic carrier of facioscapulohumeral muscular dystrophy.  Hum Genet. 2006 Mar;119(1-2):23-8. Epub 2005 Dec 8.

 

Valente KD, Freitas A, Fridman C, Varela M, Silva AE, Fett AC, Koiffmann CP.  Inv dup (15): is the electroclinical phenotype helpful for this challenging clinical diagnosis?  Clin Neurophysiol. 2006 Apr;117(4):803-9. Epub 2006 Feb 21.

 

 

Valente KD, Koiffmann CP, Fridman C, Varella M, Kok F, Andrade JQ, Grossmann RM, Marques-Dias MJ.  Epilepsy in patients with angelman syndrome caused by deletion of the chromosome 15q11-13Arch Neurol. 2006 Jan;63(1):122-8.

 

Varela MC, Krepischi-Santos AC, Paz JA, Knijnenburg J, Szuhai K, Rosenberg C, Koiffmann CP.  A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient.  Cytogenet Genome Res. 2006;114(1):89-92.

 

 

Varela MC, Simões-Sato AY, Kim CA, Bertola DR, De Castro CI, Koiffmann CP.  A new case of interstitial 6q16.2 deletion in a patient with Prader-Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity.  Eur J Med Genet. 2006 Jul-Aug;49(4):298-305. Epub 2006 Jan 4.

 

Vieira NM, Schlesinger D, de Paula F, Vainzof M, Zatz M.  Mutation analysis in the FKRP gene provides an explanation for a rare cause of intrafamilial clinical variability in LGMD2I. Neuromuscul Disord. 2006 Dec;16(12):870-3. Epub 2006 Nov 20.