Publicações

2002

Antonini S, Kim CA, Sugayama SM, Vianna-Morgante AM. Delimitation of duplicated segments and identification of their parental origin in two partial chromosome 3p duplicationsAm J Med Genet. 2002 Nov 22;113(2):144-50.

de Paula f, Vainzof M, Passos-Bueno MR, Pavanello RCM, Matioli SR, Anderson LVB, Nigro V, Zatz M. Clinical variability in calpainopathy: what makes the difference? Eur J. Hum. Genet. , 2002;10 (2): 825-32.

 

Fridman C, Varela MC, Koiffmann CP. Phenotypic and behavioral variability within Angelman Syndrome group with UPD. Genet Mol Biol 2002; 25, 2: 127-130.

Gaspar DA, Matioli SR, Pavanello RC, Araújo BC, André M, Steman S, Otto PA, Passos-Bueno MR. Evidence that BCL3 plays a role in the etiology of nonsyndromic oral clefts in Brazilian families. Genet Epidemiol. 2002 Nov;23(4):364-74.

 

Gurgel-Giannetti J, Bang ML, Reed U, Marie S, Zatz M, Labeit S, Vainzof M. Lack of the C-terminal domain of nebulin in a patient with nemaline myopathy. Muscle Nerve. 2002 May;25(5):747-52.

 

Kirby PJ, Waters PD, Delbridge M, Svartman M, Stewart AN, Nagai K, Graves JA. Cloning and mapping of platypus SOX2 and SOX14: insights into SOX group B evolutionCytogenet Genome Res. 2002;98(1):96-100.

 

Koiffmann CP, Diament A, Wajntal A. Cromossomopatias em Neurologia Infantil (revisão e atualização). 2002

 

Mingroni-Netto RC, Angeli CB, Auricchio MT, Leal-Mesquita ER, Ribeiro-dos-Santos AK, Ferrari I, Hutz MH, Salzano FM, Hill K, Hurtado AM, Vianna-Morgante AM. Distribution of CGG repeats and FRAXAC1/DXS548 alleles in South American populations. Am J Med Genet. 2002 Aug 15;111(3):243-52.

 

 

Nishimura A, Oliveira JRM, Zatz M. Doença de Alzheimer: diferenças étnicas nos genes da susceptibilidade. Alzheimer Hoje III 2002; (01):21-29

 

Oliveira SF, Pedrosa MAF, Sousa SMB, Mingroni-Netto RC, Abe-Sandes K, Ferrrari I, Barbosa AAL, Auricchio MTBM, Klautau-Guimarães MN. Heterogeneous distribution of HbS and HbC alleles in Afro-derived Brazilian populations. International Journal of Human Genetics. 2002; Vol. 2(3) 153-160.

Passos-Bueno MR, Armelin LM, Alonso LG, Neustein I, Sertié AL, Abe K, Pavanello Rde C, Elkis LC, Koiffmann CP. Craniosynostosis associated with ocular and distal limb defects is very likely caused by mutations in a gene different from FGFR, TWIST, and MSX2. Am J Med Genet. 2002 Nov 22;113(2):200-6.

 

Pereira LV. Programa preventivo para a doença de Tay-Sachs na população de judeus ashkenazitas brasileiros: necessidade e aceitação. Revista Diagnóstico e Tratamento 2002; vol.7(1), pg. 5-9

 

Pereira LV, Andrade LEC. Introdução à genética molecular (Notions on molecular genetics). Rev. Bras. Reumatol. 2001; vol. 41(3):157-166.

 

Soares-Vieira JA, Billerbeck AE, Pinto EM, Iwamura ES, Bilharinho de Mendonça B, Otto PA. Population genetics of nine short tandem repeat loci: allele frequency distribution in a Brazilian population sample. Am J Forensic Med Pathol. 2002 Jun;23(2):186-90.

 

Splendore A, Jabs EW, Passos-Bueno MR. Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle. J Med Genet. 2002 Jul;39(7):493-5.

 

 

Splendore A, Passos-Bueno MR, Jabs EW, Van Maldergem L, Wulfsberg EA.  TCOF1 mutations excluded from a role in other first and second branchial arch-related disordersAm J Med Genet. 2002 Aug 15;111(3):324-7.

 

Starling A, Rocco P, Cambi F, Hobson GM, Passos Bueno MR, Zatz M. Further evidence for a fourth gene causing X-linked pure spastic paraplegia. Am J Med Genet. 2002 Aug 1;111(2):152-6.

 

Starling A, Rocco P, Passos-Bueno MR, Hazan J, Marie SK, Zatz M.  Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus SPG4 affects almost exclusively males in a large pedigree. J Med Genet. 2002 Dec;39(12):e77.

 

Sukoyan MA, Kerkis AY, Mello MR, Kerkis IE, Visintin JA, Pereira LV.  Establishment of new murine embryonic stem cell lines for the generation of mouse models of human genetic diseases. Braz J Med Biol Res. 2002 May;35(5):535-42.

 

Suzuki OT, Sertié AL, Der Kaloustian VM, Kok F, Carpenter M, Murray J, Czeizel AE, Kliemann SE, Rosemberg S, Monteiro M, Olsen BR, Passos-Bueno MR. Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome. Am J Hum Genet. 2002 Dec;71(6):1320-9. Epub 2002 Nov 1.

 

Tonini MM, Passos-Bueno MR, Cerqueira A, Pavanello R, Vainzof M, Dubowitz V, Zatz M. Facioscapulohumeral (FSHD1) and other forms of muscular dystrophy in the same family: is there more in muscular dystrophy than meets the eye? Neuromuscul Disord. 2002 Aug;12(6):554-7.

 

Vainzof M, Moreira ES, Suzuki OT, Faulkner G, Valle G, Beggs AH, Carpen O, Ribeiro AF, Zanoteli E, Gurgel-Gianneti J, Tsanaclis AM, Silva HC, Passos-Bueno MR, Zatz M. Telethonin protein expression in neuromuscular disorders. Biochim Biophys Acta. 2002 Oct 9;1588(1):33-40.

 

Varela MC, Fridman C, Koiffmann CP. Diagnosis of patients with Prader-Willi and Angelman Syndromes: the importance of an overall investigation. Genet Mol Biol 2002; 25, 1: 7-12.

 

Vianna-Morgante AM. Síndrome do Cromossomo X FrágilIn: Marcondes E, Vaz FAC, Ramos JLA and Okay Y (ed) Pediatria Básica. Editora Sarvier, 9th ed, São Paulo. 2002; Pp 744-747.

Xue F, Tian XC, Du F, Kubota C, Taneja M, Dinnyes A, Dai Y, Levine H, Pereira LV, Yang X. Aberrant patterns of X chromosome inactivation in bovine clones. Nat Genet. 2002 Jun;31(2):216-20. Epub 2002 May 28.

 

Zatz M. Genética e Saúde Pública: A Biologia Molecular contribuindo para a compreensão e a prevenção das doenças hereditáriasCiência & Saúde Coletiva 2002; volume 7, número 1.

 

Zatz M. A biologia molecular e a genética revolucionando os conhecimentos médicosin:Pediatria Básica- 9a Edição- Sarvier Editora de Livros Médicos- 2002; p:722-732

 

Zatz M. O estudo do genoma humano contribuindo para a compreensão , o diagnóstico e a prevenção de doenças genéticas: o exemplo das doenças neuromuscularesRevista.Med. 2001; 80(1) 24-40.

 

Zatz M. Aconselhamento Genético na era molecular:aspectos éticosin: Pediatria Básica- 9a Edição- Sarvier Editora de Livros Médicos- 2002; p:751-752 .

 

Zatz M. Ética em genética -“Saúde e Previdência Social”.Desafios para o terceiro milênio , 2002; – Pearson Education