Publicações

2010

Bertola D, Amaral C, Kim C, Albano L, Aguena M, Passos-Bueno MR.  Craniosynostosis in pycnodysostosis: broadening the spectrum of the cranial flat bone abnormalities. Am J Med Genet A. 2010 Oct;152A(10):2599-603.

 

Bishop JR, Passos-Bueno MR, Fong L, Stanford KI, Gonzales JC, Yeh E, Young SG, Bensadoun A, Witztum JL, Esko JD, Moulton KS.  Deletion of the basement membrane heparan sulfate proteoglycan type XVIII collagen causes hypertriglyceridemia in mice and humans PLoS One. 2010 Nov 10;5(11):e13919.

 

Capelli LP, Gonçalves MR, Leite CC, Barbosa ER, Nitrini R, Vianna-Morgante AM.  The fragile x-associated tremor and ataxia syndrome (FXTAS). Arq Neuropsiquiatr. 2010 Oct;68(5):791-8.

 

Costa Ade M, Kobayashi GS, Bueno DF, Martins MT, Ferreira Mde C, Passos-Bueno MR, Alonso N.v An experimental model for the study of craniofacial deformities. Acta Cir Bras. 2010 Jun;25(3):264-8.

 

Cutiño-Jiménez AM, Martins-Pinheiro M, Lima WC, Martín-Tornet A, Morales OG, Menck CF.  Evolutionary placement of Xanthomonadales based on conserved protein signature sequences. Mol Phylogenet Evol. 2010 Feb;54(2):524-34. Epub 2009 Sep 26.

 

de Leeuw, Nicole ; Bulk, Saskia ; Green, Andrew ; Jaeckle-Santos, Lane ; Baker, Linda A. ; Zinn, Andrew R. ; Kleefstra, Tjitske ; van der Smagt, Jasper J. ; Vianna-Morgante, A.M. ; de Vries, Bert B.A. ; van Bokhoven, Hans ; de Brouwer, Arjan P.M.  UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients. American Journal of Medical Genetics. Part A, v. 152A, p. 3084-3090, 2010.

 

D’Angelo CS, de Oliveira MA, de Castro CI, Koiffmann CP. Molecular cytogenetic characterization of an inherited maternal duplication 20p11.21p13 associated with a small 20p11.21 deletion. Am J Med Genet A. 2010 Dec;152A(12):3197-202.

 

D’Angelo CS, Kohl I, Varela MC, de Castro CI, Kim CA, Bertola DR, Lourenço CM, Koiffmann CP. Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagia.  Am J Med Genet A. 2010 Jan;152A(1):102-10.

 

Fukumoto N, Fujii T, Combarros O, Kamboh MI, Tsai SJ, Matsushita S, Nacmias B, Comings DE, Arboleda H, Ingelsson M, Hyman BT, Akatsu H, Grupe A, Nishimura AL, Zatz M, Mattila KM, Rinne J, Goto Y, Asada T, Nakamura S, Kunugi H.  Sexually dimorphic effect of the Val66Met polymorphism of BDNF on susceptibility to Alzheimer’s disease: New data and meta-analysis. Am J Med Genet B Neuropsychiatr Genet. 2010 Jan 5;153B(1):235-42.

 

Funke AD, Esser M, Krüttgen A, Weis J, Mitne-Neto M, Lazar M, Nishimura AL, Sperfeld AD, Trillenberg P, Senderek J, Krasnianski M, Zatz M, Zierz S, Deschauer M.  The p.P56S mutation in the VAPB gene is not due to a single founder: the first European case.Clin Genet. 2010 Mar;77(3):302-3.

 

Graciani Z, Santos S, Macedo-Souza LI, Monteiro CB, Veras MI, Amorim S, Zatz M, Kok F. Motor and functional evaluation of patients with spastic paraplegia, optic atrophy, and neuropathy (SPOAN). Arq Neuropsiquiatr. 2010 Feb;68(1):3-6.

 

Kague E, Bessling SL, Lee J, Hu G, Passos-Bueno MR, Fisher S.
 Functionally conserved cis-regulatory elements of COL18A1 identified through zebrafish transgenesis. Dev Biol. 2010 Jan 15;337(2):496-505. Epub 2009 Nov 3.

 

Krepischi AC, Rosenberg C, Costa SS, Crolla JA, Huang S, Vianna-Morgante AM.  "A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation". Am J Med Genet A. 2010 Sep;152A(9):2376-8.

 

Lamônica DA, Maximino LP, Feniman MR, Silva GK, Zanchetta S, Abramides DV, Passos-Bueno MR, Rocha K, Richieri-Costa A. Saethre-Chotzen Syndrome, Pro136His TWIST mutation, hearing loss, and external and middle ear structural anomalies: report on a Brazilian family. Cleft Palate Craniofac J. 2010 Sep;47(5):548-52

 

Lugtenberg D, Zangrande-Vieira L, Kirchhoff M, Whibley AC, Oudakker AR, Kjaergaard S, Vianna-Morgante AM, Kleefstra T, Ruiter M, Jehee FS, Ullmann R, Schwartz CE, Stratton M, Raymond FL, Veltman JA, Vrijenhoek T, Pfundt R, Schuurs-Hoeijmakers JH, Hehir-Kwa JY, Froyen G, Chelly J, Ropers HH, Moraine C, Gècz J, Knijnenburg J, Kant SG, Hamel BC, Rosenberg C, van Bokhoven H, de Brouwer AP.  “Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation.” Am J Med Genet A. 2010 Mar;152A(3):638-45.

 

Mazzeu JF, Vianna-Morgante AM, Krepischi AC, Oudakker A, Rosenberg C, Szuhai K, McGill J, Maccraughan J, van Bokhoven H, Brunner HG. “Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome.” Clin Genet. 2010 Apr;77(4):404-7. Epub 2010 Jan 20.

 

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH.  Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010; (86): 749-764.

 

Muniz VP, Senkevics AS, Zilbersztajn D, Gurgel-Giannetti J, Silva HC, Yamamoto LU, Pavanello RC, Pearson PL, Zatz M, Vainzof M.  “Genetic variability in the myostatin gene does not explain the muscle hypertrophy and clinical penetrance in myotonia congenita.” Muscle Nerve. 2010 Mar;41(3):427-8.

 

Nakahata AM, Suzuki DE, Rodini CO, Pereira MC, Janjoppi L, Okamoto OK.  Human Glioblastoma Cells Display Mesenchymal Stem Cell Features and Form Intracranial Tumors in Immunocompetent Rats. J Stem Cells. 2010;5(3):103-11.

 

Nitrini R, Gonçalves MRR, Capelli LP, Barbosa ER, Porto CS, Amaro E, Otto PA, Vianna-Morgante AM.  Dementia in fragile X-associated tremor/ataxia syndrome. Dement Neuropsychol 4(1): 79-83, 2010.

 

Oiticica J, Barboza LC Jr, Batissoco AC, Lezirovitz K, Mingroni-Netto RC, Haddad LA, Bento RF.  Retention of progenitor cell phenotype in otospheres from guinea pig and mouse cochlea. J Transl Med. 2010 Nov 18;8(1):119. 2010.

 

Okamoto, OK. ; Janjoppi, L. ; Bonone, F.M. ; Pansani, A.P. ; Silva, A.V. ; Scorza, F.A. ; Cavalheiro, E.A.  Whole transcriptome analysis of the hippocampus: toward a molecular portrait of epileptogenesis. BMC Genomics, v. 11, p. 230, 2010

 

Oliveira MA, Discola KF, Alves SV, Medrano FJ, Guimarães BG, Netto LE.  Insights into the specificity of thioredoxin reductase-thioredoxin interactions. A structural and functional investigation of the yeast thioredoxin system. Biochemistry. 2010 Apr 20;49(15):3317-26.

 

Olivero OA, Larramendy M, Soloneski S, Menck CF, Matta J, Folle GA, Zamorano-Ponce E, Spivak G.  Impact of EMS outreach: successful developments in Latin America. Environ Mol Mutagen. 2010 Oct-Dec;51(8-9):763-73

 

Pacanaro AN, Christofolini DM, Kulikowski LD, Belangero SI, da Silva Bellucco FT, Varela MC, Koiffmann CP, Yoshimoto M, Squire JA, Schiavon AV, Heck B, Melaragno MI.  A rare case of trisomy 15pter-q21.2 due to a de novo marker chromosome. Am J Med Genet A. 2010 Mar;152A(3):753-8.

 

Passos-Bueno MR.  SOX17 Mutations implicated in urinary tract abnormalities. Hum Mutat. 2010 Dec;31(12):V.

 

Praxedes LA, Pereira FM, Mazzeu JF, Costa SS, Bertola DR, Kim CA, Vianna-Morgante AM, Otto PA.  An Illustrative Case of Neurofibromatosis Type 1 and NF1 Microdeletion. Mol Syndromol 1: 133-135, 2010.

 

Raposo-Amaral CE, Almeida AB, Raposo-Amaral CA, Vulcano LC, Passos-Bueno MR, Alonso N.  Effects of uterine cervix constriction on Wistar rats. Acta Cir Bras. 2010 Dec;25(6):469-74.

 

Raposo-Amaral CE, Almeida AB, Raposo-Amaral CA, Vulcano LC, Passos-Bueno MR, Alonso N.  Effects of uterine cervix constriction on Wistar rats. Acta Cir Bras. 2010 Dec;25(6):469-74.

 

Raposo-Amaral CE, Kobayashi GS, Almeida AB, Bueno DF, Freitas FR, Vulcano LC, Passos-Bueno MR, Alonso N.  Alveolar osseous defect in rat for cell therapy: preliminary report. Acta Cir Bras. 2010 Aug;25(4):313-7.

 

Krepischi AC, Knijnenburg J, Bertola DR, Kim CA, Pearson PL, Bijlsma E, Szuhai K, Kok F, Vianna-Morgante AM, Rosenberg C.  Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy. Epilepsia. 2010 Dec;51(12):2457-60. doi: 10.1111/j.1528-1167.2010.02742.x. Epub 2010 Sep 30.

 

Rodini, CO ; Suzuki, D.E. ; Nakahata, A.M. ; Pereira, M.C.L. ; JANJOPPI, L. ; Toledo, Sílvia Regina Caminada ; Okamoto, O. K.  Aberrant signaling pathways in medulloblastomas: a stem cell connection. Arquivos de Neuro-Psiquiatria (Impresso), v. 68, p. 947-952, 2010.

 

Saffi J, Agnoletto MH, Guecheva TN, Batista LF, Carvalho H, Henriques JA, Stary A, Menck CF, Sarasin A.  Effect of the anti-neoplastic drug doxorubicin on XPD-mutated DNA repair-deficient human cells. DNA Repair (Amst). 2010 Jan 2;9(1):40-7.

 

Schuch AP, Menck CF.  The genotoxic effects of DNA lesions induced by artificial UV-radiation and sunlight. J Photochem Photobiol B. 2010 Jun 1;99(3):111-6.

 

Sertie AL, de Alencastro G, De Paula VJ, Passos-Bueno MR.  Collybistin and gephyrin are novel components of the eukaryotic translation initiation factor 3 complex. BMC Res. Notes. 2010 Sep 21;3:242

 

Toledo SR, Oliveira ID, Okamoto OK, Zago MA, de Seixas Alves MT, Filho RJ, Macedo CR, Petrilli AS  Bone deposition, bone resorption, and osteosarcoma. Journal of Orthopaedic Research, v. 28, p. 1142-1148, 2010

 

Tuon L, Comim CM, Fraga DB, Scaini G, Rezin GT, Baptista BR, Streck EL, Vainzof M, Quevedo J.  Mitochondrial respiratory chain and creatine kinase activities in mdx mouse brain. Muscle Nerve. 2010 Feb;41(2):257-60.

 

Uehara DT, Rincon D, Abreu-Silva RS, de Mello Auricchio MT, Tabith A, Kok F, Mingroni-Netto RC.   Role of the Mitochondrial Mutations, m.827A>G and the Novel m.7462C>T, in the Origin of Hearing Loss. Genetic Testing and Molecular Biomarkers Volume 14, Number 5, 2010

 

Vieira NM, Brandalise V, Zucconi E, Secco M, Strauss BE, Zatz M.  Isolation, characterization and differentiation potential of canine adipose-derived stem cells. Cell Transplant. 2010;19(3):279-89.

 

Vieira NM, Zucconi E, Bueno CR Jr, Secco M, Suzuki MF, Bartolini P, Vainzof M, Zatz M.  Human Multipotent Mesenchymal Stromal Cells from Distinct Sources Show Different In Vivo Potential to Differentiate into Muscle Cells When Injected in Dystrophic Mice. Stem Cell Rev. 2010 Sep 4.

 

Vilarinho L, Tafulo S, Sibilio M, Kok F, Fontana F, Diogo L, Venâncio M, Ferreira M, Nogueira C, Valongo C, Parenti G, Amorim A, Azevedo L.  Identification of novel L2HGDH gene mutations and update of the pathological spectrum. J Hum Genet. 2010 Jan;55(1):55-8. Epub 2009 Nov 13.

 

Wajchenberg M, Lazar M, Cavaçana N, Martins DE, Licinio L, Puertas E B, Landim E, Zatz, M, Ishida A. Genectic aspects of adolescent idiopathic scoliosis in a family with multiple affected members: a research article. Scolious Journal.

 

Yarak, S. Okamoto, OK. Human adipose-derived stem cells: current challenges and clinical perspectives. Anais Brasileiros de Dermatologia (Impresso), v. 85, p. 647-56, 2010.

 

Zatz M, Zucconi E, Valadares M, Jazedje T.  Phenotypes in golden retriever. Neuromuscul Disord. 2010 Jan;20(1):71. Epub 2009 Dec 1.

 

Zechi-Ceide RM, Guion-Almeida ML, Jehee FS, Rocha K, Passos-Bueno MR. Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome? Am J Med Genet A. 2010 Jul;152A(7):1838-40.

 

Zucconi E, Valadares MC, Vieira NM, Bueno CR Jr, Secco M, Jazedje T, da Silva HC, Vainzof M, Zatz M.  Ringo: discordance between the molecular and clinical manifestation in a golden retriever muscular dystrophy dog. Neuromuscul Disord. 2010 Jan;20(1):64-70. Epub 2009 Nov 26.

 

Zucconi E, Vieira NM, Bueno DF, Secco M, Jazedje T, Ambrosio CE, Passos-Bueno MR, Miglino MA, Zatz M.  Mesenchymal stem cells derived from canine umbilical cord vein–a novel source for cell therapy studies. Stem Cells Dev. 2010 Mar;19(3):395-402.