CURRICULUM ABSTRACT
PAULO A. OTTO (born 16 June 1944, Rio de Janeiro RJ, Brazil), Brazilian, married.
Education:
Undergraduate studies: M.B., Ch.B. (US equiv. MD) [Faculdade de Medicina, UFERJ (ex-Fundacao Escola de Medicina e Cirurgia do Rio de Janeiro, EMCRJ), 1968]; B.Sc. [Instituto de Biologia, State University of Rio de Janeiro, UERJ (ex-UEG), 1971].
(Post-) Graduate studies (Advisor: Prof. Oswaldo Frota-Pessoa): M.Sc. (Instituto de Biociencias, University of Sao Paulo USP, 1975); D.Sc. [US equiv. Ph.D.] (Instituto de Biociencias, University of Sao Paulo USP, 1977).
Post-Doctoral fellowships (all in the area of population genetics): Laboratory of Genetics, University of Wisconsin UW, Madison, USA (Prof. James F. Crow), 1980-81, 1992-94; School of Community Medicine, University of New South Wales UNSW, Sydney, Australia (Prof. Alan Stark), 1986; Department of Mathematics and Statistics, University of Vermont UVM, Burlington, USA (Prof. Richard M. Single), 2011-2012.
Position presently held: (Full-) Senior Professor (retired), DGBE, IB USP.
Professional career: Physician, Hospital da Aeronáutica (Base Aérea do Galeão, Rio de Janeiro), 1969-1972. Lecturer, Departamento de Biologia UFRJ, Rio de Janeiro, 1969; teacher assistant, Faculdade de Ciências Médicas UERJ (ex-UEG), 1969-1971. At the Department of Genetics and Evolutionary Biology DGBE (ex-Department of Biology DB) USP (São Paulo): Assistant Researcher (CNPq fellowship), 1972-1975; Professor [teacher assistant, 1975-1976; assistant professor, 1977-1982; associate professor I (Priv. Doc.), 1982-1985; associate professor II, 1985-1992; (full) professor, 1992-2014; (full) senior professor (retired) since 2014]. Department Head: 1994-1998, 2005-2009; Deputy Head on several occasions.
Research areas: Population, Human, and Medical Genetics.
Publications [SP: complete scientific papers; RA: review articles (including biographies and didactic papers); DB: didactic and scientific books; BR: book reviews; BC: book chapters; TD: theses and dissertations. The list that follows does not include about 200 published abstracts presented at congresses, 50 of them at international level.
001 - Fragoso SC, Otto, PA. Distribuição dos tipos de haptoglobinas na população do Rio de Janeiro (Estado da Guanabara). Rev. Méd. Est. Guanab. 34: 59-62, 1967. [SP] [rmeg01.pdf (573 kB)]
002 - Otto PA, Bozóti MM. Digital dermatoglyphics and blood-groups. Lancet 2: 1250-1251, 1968. [SP] [lanc02.pdf (88 kB)]
003 - Otto PA. Resumo de livros e revistas : Kastert J, Die Spondylitis tuberculosa und ihre operative Behandlung. Arq. Bras. Med. 55: 229, 1968. [BR] [abme01.pdf (385 kB)]
004 - Otto PA. Fundamentos bioquímicos da hereditariedade. I. Natureza do material hereditário. Rev. Soc. Bras. Med. Trop. 3: 229-235, 1969. [RA] [rsbt01.pdf (307 kB)]
005 - Otto PA. Fundamentos bioquímicos da hereditariedade. II. Transmissão do material hereditário. Rev. Soc. Bras. Med. Trop. 3: 289-296, 1969. [RA] [rsbt02.pdf (423 kB)]
006 - Otto PA. Fundamentos bioquímicos da hereditariedade. III. Modo de ação do material hereditário: enzimas. Rev. Soc. Bras. Med. Trop. 3: 345-350, 1969. [RA] [rsbt03.pdf (248 kB)]
007 - Otto PA. Fundamentos bioquímicos da hereditariedade. IV. Modo de ação do material hereditário: controle qualitativo da síntese protêica. Rev. Soc. Bras. Med. Trop. 4: 59-68, 1970. [RA] [rsbt04.pdf(554 kB)]
008 - Otto PA. Fundamentos bioquímicos da hereditariedade. V. Modo de ação do material hereditário: controle quantitativo da síntese protêica. Rev. Soc. Bras. Med. Trop. 4: 153-156, 1970. [RA] [rsbt05.pdf (196 kB)]
009 - Otto PA. Aberrações cromossômicas e criminalidade. Rev. Inst. Méd. Leg. Est. Guanab. 1: 49-56, 1970. [RA] [riml02.pdf (3.8 MB)]
010 - Otto PA, Bozóti MM. Padrões dermatoglíficos digitais e sua relação com os grupos sangüíneos do sistema ABO. Rev. Méd. Est. Guanab. 37: 39-54, 1970. [SP] [rmeg02.pdf (395 kB)]
011 - Bozóti MM, Oliveira CAB, Otto PA. Doença de Wilson: apresentação de uma família com quatro casos de degeneração hepatolenticular. Hospital 77: 1201-1227, 1970. [SP] [hosp01.pdf (5.3 MB)]
012 - Otto PA, Otto PG. Probabilidades médias de exclusão de parentesco biológico para populações caucasoides brasileiras. Rev. Inst. Méd. Leg. Guanab. 2: 13-24, 1971. [SP] [riml01.pdf (1.4 MB)]
013 - Otto PA. A note on the graphical representation of genetic equilibria. I. Sex-linked genes in random-mating populations. J. Heredity 65: 186-187, 1974. [SP] [jher01.pdf (539 kB)]
014 - Frota-Pessoa O, Ferreira NR, Silva LC, Chamone DA, Robles MBP, Moro AM, Otto PA. Um estudo dos cromossomos de linfócitos de pacientes tratados com hicantona. I Enc. Nac. Esquistossomose, CACESQ, São Paulo, 1974, pp. 112-115. [SP] [cace01.pdf (588 kB)]
015 - Frota-Pessoa O, Ferreira NR, Pedroso MB, Moro AM, Otto PA, Chamone DAF, Silva LC. A study of chromosomes of lymphocytes from patients treated with hycanthone. J. Toxicol. Environ. Health 1: 305-307, 1975. [SP] [jteh01.pdf (592 kB)]
016 - Otto PA, Frota-Pessoa O. Gêmeo. Enciclopédia Mirador Internacional, Encyclopaedia Britannica do Brasil, São Paulo, 1975, Vol. 10, pp. 5175-5176. [RA/BC] [mir_gemeo.pdf (1.6 MB)]
017 - Otto PA, Frota-Pessoa O. Genética. Enciclopédia Mirador Internacional, Encyclopaedia Britannica do Brasil, São Paulo, 1975, Vol. 10, pp. 5180-5192. [RA/BC] [mir_genet.pdf ( 10 MB)]
018 - Otto PA, Frota-Pessoa O. Mimetismo. Enciclopédia Mirador Internacional, Encyclopaedia Britannica do Brasil, São Paulo, 1975, Vol. 14, pp. 7673-7674. [RA/BC] [mir_mimet.pdf (1.1 MB)]
019 - Frota-Pessoa O, Otto PA, Otto PG. Genética clínica. Livraria Francisco Alves Editora, Rio de Janeiro, 1975, 260 pp. (2nd ed. 1977, 3d ed. 1978, 4th ed. 1984). [DB]
020 - Otto PA. Dermatóglifos na síndrome de Turner. M.Sc. thesis. Departamento de Biologia, IB USP, mimeogr., 92 pp., São Paulo, 1975. [TD]
021 - Frota-Pessoa O, Otto PG, Otto PA. Genética Humana. Livraria Francisco Alves Editora, Rio de Janeiro, 1975, 300 pp. (2nd. ed. 1976, 3d. ed. 1978, 4th. ed. 1984). [DB]
022 - Frota-Pessoa O, Otto PA, Olivares-Plaza JR. The variation of recurrence risks with penetrance for isolated cases of autosomal dominant conditions. J. Heredity 67: 256, 1976. [SP] [jher02.pdf (499 kB)]
023 - Zatz M, Penha-Serrano C, Otto PA. X-linked recessive type of spastic paraplegia in a large pedigree: absence of detectable linkage with Xg. J. Med. Genet. 13: 217-222, 1976. [SP] [jmge02.pdf (721 kB)]
024 - Otto PA. Um manual de genética: Freire-Maia N, Tópicos de genética humana. Supl. Cult. Est. S. Paulo no 3 (31.10.76). [BR] [scul01.pdf (264 kB)]
025 - Otto PA. Estudos de genética: Beiguelman B, Dinâmica dos genes nas famílias e nas populações. Supl. Cult. Est. S. Paulo no 30 (08.05.77). [BR] [scul02.pdf (307 kB)]
026 - Otto PA, Kasahara S, Nunesmaia HG, Frota-Pessoa O. Risk of 45,X karyotype in offspring of Turner's syndrome patients. Lancet 2: 257, 1977. [SP] [lanc01.pdf (158 kB)]
027 - Otto PA. Studies on assortative mating. I. An exact solution for a model of Naylor. J. Heredity 68: 332-333, 1977. [SP] [jher03.pdf (352 kB)]
028 - Otto PA. Modelos matemáticos em biologia. Rev. Bras. Pesq. Méd. Biol. 10: 139-143, 1977. [RA] [rbpb02.pdf (1.0 MB)]
029 - Otto PA. Variabilidade genética nas populações humanas. Supl. Cult. Est. S. Paulo no 18 (13.02.77). [RA] [scul04.pdf (3.6 MB)]
030 - Otto PA - Estudo matemático de alguns modelos de cruzamentos preferenciais. D.Sc. (Ph.D. in Genetics) dissertation. Departamento de Biologia, IBUSP, mimeogr., 285+iv pp., São Paulo, 1977. [TD]
031 - Otto PA, Houli J. Elementos de genética humana. In Houli J (ed.), Semiologia clínica, Editora Guanabara Koogan, Rio de Janeiro, 1978, pp. 521-533. [BC] [genet_houli.pdf (724 kB)]
032 - Otto PA. Dermatóglifos e suas aplicações em genética humana. Supl. Cult. Est. S. Paulo no 73 (12.03.78). [RA] [scul06.pdf (2.2 MB)]
033 - Otto PG, Toledo S, Richieri-Costa A, Otto PA, Vianna-Morgante AM, Kasahara S. Partial monosomy 13 and 21 due to a familial 13/21 translocation. Hum. Genet. 41: 243-250, 1978. [SP] [huge01.pdf (425 kB)]
034 - Otto PA. Studies on assortative mating. II. Effects of admixture of positive and negative systems. J. Heredity 69: 207-209, 1978. [SP] [jher04.pdf (792 kB)]
035 - Otto PA, Frota-Pessoa O. Estimativas de riesgos genéticos. An. Acad. Ci. Ex. Fis. Nat. Buenos Aires 31: 271-289, 1979. [RA/SP] [acba01.pdf (630 kB)]
036 - Otto PA. Atualização em biologia: Buselmaier W, Biologia Médica. Supl. Cult. Est. S. Paulo no 126 (01.04.79). [BR] [scul07.pdf (561 kB)]
037 - Otto PA, Otto PG. The importance of A'-d ridge count in dermatoglyphic diagnosis of the Ullrich-Turner syndrome. Amer. J. Med. Genet. 6: 145-152, 1980. [SP] [ajmg14.pdf (1.4 MB)]
038 - Moreira-Filho CA, Otto PG, Mustacchi Z, Frota-Pessoa O, Otto PA. H-Y antigen expression in a case of XX true hermaphroditism. Hum. Genet. 55: 309-314, 1980. [SP] [huge05.pdf (1.1 MB)]
039 - Monsalve MV, Erdtmann B, Otto PA, Frota-Pessoa O. The human Y chromosome: racial variation and evolution. Rev. Bras. Genét. 3: 433-446, 1980. [SP] [rbge01.pdf (383 kB)]
040 - Zatz M, Shapiro LJ, Campion DS, Kaback MM, Otto PA. Serum pyruvate-kinase (PK) and creatine-phosphokinase (CPK) in female relatives and patients with X-linked muscular dystrophies (Duchenne and Becker). J. Neurol. Sci. 46: 267-279, 1980. [SP] [jnsc03.pdf (736 kB)]
041 - Zatz M, Otto PA. Effects of age on the detection rate in Duchenne muscular dystrophy. J. Neurol. Sci. 47: 407-410, 1980. [SP] [jnsc02.pdf (214 kB)]
042 - Zatz M, Otto PA. The use of concomitant serum pyruvate-kinase (PK) and creatine-phosphokinase (CPK) for carrier detection in Duchenne's muscular dystrophy through discriminant analysis. J. Neurol. Sci. 47: 411-417, 1980. [SP] [jnsc01.pdf (332 kB)]
043 - Otto PA. O desenvolvimento da genética de populações. Supl. Cult. Est. S. Paulo no 180 (13.04.80). [RA] [scul05.pdf (2.8 MB)]
044 - Otto PA. O tratamento das doenças hereditárias. Supl. Cult. Est. S. Paulo no 182 (27.04.80). [RA] [scul03.pdf (922 kB)]
045 - Otto PG, Vianna-Morgante AM, Otto PA, Wajntal A. The Turner phenotype and the different types of human X isochromosomes. Hum. Genet. 57: 159-164, 1981. [SP] [huge03.pdf (535 kB)]
046 - Moreira-Filho CA, Amaral AT, Otto PG, Vianna-Morgante AM, Otto PA, Elejalde BR. H-Y antigen expression in a case of mixed gonadal dysgenesis. Hum. Genet. 57: 366-370, 1981. [SP] [huge06.pdf (1.3 MB)]
047 - Otto PA. Studies on assortative mating. III. The effects of incomplete penetrance in assortative mating systems. Theor. Popul. Biol. 20: 344-355, 1981. [SP] [tpbi01.pdf (549 kB)]
048 - Otto PG, Otto PA, Therman E. The behavior of allocyclic chromosomes in Bloom's syndrome. Chromosoma 84: 337-344, 1981. [SP] [chro01.pdf (1.1 MB)]
049 - Otto PA, Otto PG. Paternal or maternal origin of human i(Xq) isochromosomes. Hum. Genet. 59: 308-309, 1981. [SP] [huge02.pdf (157 kB)]
050 - Amabis JM, Martho GR, Otto PA. Biologia e saúde humanas. Editora Moderna, São Paulo, 1981, 312 pp. [DB]
051 - Moraes AED, Colletto GMDD, Ferreira HR, Rosenberg L, Aratangy LR, Santini MA, Frota-Pessoa O, Otto PA, Otto PG. Biologia para o segundo grau. FENAME/MEC, Rio de Janeiro, 1981. Basic text, 276 pp. [DB]
051a - Teacher's manual, 140 pp. [DB]
052 - Moraes AED, Colletto GMDD, Ferreira HR, Rosenberg L, Aratangy LR, Santini MA, Frota-Pessoa O, Otto PA, Otto PG. Cursos de motivação profissional: análises clínicas. FENAME/MEC, Rio de Janeiro, 1981. Basic text, 64 pp. [DB]
052a - Teacher's manual, 40 pp. [DB]
053 - Moraes AED, Colletto GMDD, Ferreira HR, Rosenberg L, Aratangy LR, Santini MA, Frota-Pessoa O, Otto PA, Otto PG. Cursos de motivação profissional: técnicas agrícolas. FENAME/MEC, Rio de Janeiro, 1981. Basic text, 76 pp. [DB]
053a - Teacher's manual, 40 pp. [DB]
054 - Moraes AED, Colletto GMDD, Ferreira HR, Rosenberg L, Aratangy LR, Santini MA, Frota-Pessoa O, Otto PA, Otto PG. Cursos de motivação profissional: a enfermeira. FENAME/MEC, Rio de Janeiro, 1981. Basic text, 64 pp. [DB]
054a - Teacher's manual, 32 pp. [DB]
055 - Moraes AED, Colletto GMDD, Ferreira HR, Rosenberg L, Aratangy LR, Santini MA, Frota-Pessoa O, Otto PA, Otto PG. Cursos de motivação profissional: animais produtores de riquezas. FENAME/MEC, Rio de Janeiro, 1981. Basic text, 124 pp. [DB]
055a - Teacher's manual, 52 pp. [LD]
056 - Otto PA, Frota-Pessoa O, Fragoso SC, Junqueira PC, Muñoz D, L'Abbate M, Rogatko A. Probabilities of true paternity for individuals not excluded through tests with genetic markers. Rev. Bras. Genét. 5: 373-382, 1982. [SP] [rbge02.pdf (631 kB)]
057 - Viegas D, Conti M, Taralli M, Huberman JI, Pinto RJ, Otto PA, Hamerschlak N. Incidência de icterícia em recém-nascidos de alto risco. J. Pediatria 53: 171-176, 1982. [SP] [jope01.pdf (1.8 MB)]
058 - Otto PA. Genética formal e de populações de auto-poliploides. Privat docent dissertation, Departamento de Biologia, IBUSP, mimeogr., 100+i pp., São Paulo, 1982. [TD]
059 - Levisky RB, Thomaz C, Roisenberg I, Ferrari N, Rogatko A, Otto PA, Ferreira Filho AA, Coelho E, Carelli CA, Frota-Pessoa O. Evaluation of techniques for detection of hemophilia A heterozygotes. Rev. Bras. Genét. 6: 327-335, 1983. [SP] [rbge03.pdf (569 kB)]
060 - Perondini ALP, Otto PA, Templeton AR, Rogatko A. Evidence for assortative mating systems related to the polytene chromosome-band polymorphism in Sciara ocellaris. J. Heredity 74: 283-288, 1983. [SP] [jher08.pdf (1.9 MB)]
061 - Otto PA, Vieira Filho J, Marques SA. A standard procedure for correcting lateral displacements of the maximal atd angle by means of the ulnarity index. Rev. Bras. Genét. 7: 777-785, 1984. [SP] [rbge04.pdf (367 kB)]
062 - Rabello-Gay MN, Carvalho MIO, Otto PA, Targa HJ. The effects of age, sex and diet on the clastogenic action of cyclophosphamide in mouse bone marrow. Mut. Res. 158: 181-188, 1985. [SP] [mutr01.pdf (489 kB)]
063 - Richieri-Costa A, Colletto GMDD, Otto PA. Unusual type of brachydactyly associated with short stature and facial anomalies. A new syndrome? Amer. J. Med. Genet. 21 : 637-642, 1985. [SP] [ajmg15.pdf (2.3 MB)]
064 - Ferreira DM, Pagnan NA, Otto PA. The A'-d ridge count in Ullrich-Turner syndrome : study in a large sample. Rev. Bras. Genét. 8: 193-198, 1985. [SP] [rbge06.pdf (314 kB)]
065 - Vainzof M, Zatz M, Otto PA. Serum CK-MB activity in progressive muscular dystrophy: is it of nosologic value?. Amer. J. Med. Genet. 22 : 81-87, 1985. [SP] [ajmg17.pdf (376 kB)]
066 - Batista DAS, Campos MTGR, Vianna-Morgante AV, Otto PA. Dermatoglyphics in patients with the Prader-Willi syndrome and normal karyotypes. Rev. Bras. Genét. 8: 107-114, 1985. [SP] [rbge05.pdf (449 kB)]
067 - Zatz M, Otto PA. Evaluation of carrier detection rates for Duchenne and Becker muscular dystrophies using serum creatine-kinase (CK) and pyruvate-kinase (PK) through discriminant analysis. Amer. J. Med. Genet. 25: 219-230, 1986. [SP] [ajmg16.pdf (2.8 MB)]
068 - Otto PA. Ética do aconselhamento genético. In Queiroz JJ (org.), Ética no mundo de hoje, Edições Paulinas, S. Paulo, 1986, pp. 139-142. [BC] [etica_queiroz.pdf] (449 kB)]
069 - Otto PA. Informação técnico-científica SBM: Matthews DE , Farewell VT, Using and understanding medical statistics. Rev. Bras. Microbiol. 17: 389-390, 1986. [BR] [remi01.pdf (194 kB)]
070 - Stark AE, Otto PA. The coefficient of common identity. Rev. Bras. Genét. 10: 301-311, 1987. [SP] [rbge07.pdf (592 kB)]
071 - Pavanello RCM, Eigier A, Otto PA. Relationship between Mayer-Rokitansky-Küster (MRK) anomaly and hereditary renal adysplasia (HRA). Amer. J. Med. Genet. 29: 845- 849, 1988. [SP] [ajmg18.pdf (344 kB)]
072 - Zatz M, Rapaport D, Vainzof M, Pavanello RCM, Rocha JML, Betti RTB, Otto PA. Effect of mazindol on growth hormone levels in patients with Duchenne muscular dystrophy. Amer. J. Med. Genet. 31: 821-833, 1988. [SP] [ajmg19.pdf (3.0 MB)]
073 - Otto PA. Obituary: Sewall Wright (1889-1988). Rev. Bras. Genét. 11: 495-497, 1988. [RA] [rbge15.pdf (448 kB)]
074 - Zatz M, Rapaport D, Vainzof M, Pavanello RCM, Rocha JML, Otto PA. Mazindol and growth-hormone in Duchenne dystrophy. In Serratrice G et al. (ed.), Advances in neuromuscular diseases, Expansion Scientifique Française, Paris, 1989, p. 244-248. [BC] [aned01.pdf (1.6 MB)]
075 - Otto PA, Vieira Filho J, Marques SA. Comparative analysis of dermatoglyphic indices used for diagnosis of Down's syndrome. Rev. Bras. Genét. 12: 145-159, 1989. [SP] [rbge08.pdf (692 kB)]
076 - Passos-Bueno MR, Otto PA, Zatz M. Estimates of conditional heterozygosity risks for young females in Duchenne muscular dystrophy. Hum. Hered. 39: 202-211, 1989. [SP] [huhe01.pdf (2.3 MB)]
077 - Salaru NN, Otto PA. Blood groups in a large sample from the city of São Paulo (Brazil): allele and haplotype frequencies for MNSs, Kell-Cellano, Rh and ABO systems. Rev. Bras. Genét. 12: 625-643, 1989. [SP] [rbge09.pdf (219 kB)]
078 - Martinho PS, Otto PG, Gonzalez CH, Kok F, Otto PA. Dermatoglyphic studies in Rett syndrome. Rev. Bras. Genét. 12: 859 - 863, 1989. [SP] [rbge10.pdf ( 57 kB)]
079 - Arduin M, Kraus JE, Otto PA, Venturelli M. Caracterização morfológica e biométrica de galhas foliares em Struthanthus vulgaris Mart. (Loranthaceae). Rev. Bras. Biol. 49: 817 - 823, 1989. [SP] [rbbi01.pdf (4.0 MB)]
080 - Roda DS , Otto PA. Período de gestação em ovelhas das raças Ideal e Corriedale. Bol. Ind. Anim. 46(2): 219-222, 1989. [SP] [bian04.pdf (2.4 MB)]
081 - Otto PA. Estimativas de riscos de doença genética na prole de primos em primeiro grau. Ci. Cult. 41: 471-474, 1989. [SP] [cicu01.pdf (1.2 MB)]
082 - Otto PA. Estatística para a área biomédica: Beiguelman B, Curso prático de Bioestatística. Ciência Hoje 10 (55): 23, 1989. [BR] [ciehoj.pdf (1.4 MB)]
083 - Otto PA. Obituary: Charles William Cotterman (1914-1989). Rev. Bras. Genét. 13: 153-157, 1990. [RA] [rbge16.pdf (1.1 MB)]
084 - Roda DS, Otto PA, Santos LE , Dupas W. Efeito da época do nascimento na sobrevivência e desenvolvimento de cordeiros das raças Ideal e Corriedale. Bol. Ind. Anim. 47(1): 81-87, 1990. [SP] [bian01.pdf (3.9 MB)]
085 - Roda DS , Otto PA. Efeito da suplementação alimentar pré-acasalamento na prolificidade de ovinos das raças Ideal e Corriedale. Bol. Ind. Anim. 47(2): 87-96, 1990. [SP] [bian02.pdf (3.9 MB)]
086 - Roda DS, Otto PA, Santos LE, Dupas W, Feitoza ASL, Bianchini D. Efeito do tipo de gestação (simples ou gemelar) na sobrevivência e desenvolvimento de cordeiros das raças Ideal e Corriedale. Bol. Ind. Anim. 47(2): 115-119, 1990. [SP] [bian03.pdf (2.1 MB)]
087 - Klaczko LB, Otto PA , Peixoto AA. Allele frequency estimates when only heterozygotes can be recognized: method of estimation and application to the case of chromosomal inversion polymorphisms in Drosophila. Heredity 64: 263-269, 1990. [SP] [here01.pdf (2.2 MB)]
088 - Rosenberg C, Vianna-Morgante AM, Otto PA , Navajas L. Effect of X chromosome inactivation on fragile X frequency and mental retardation. Amer. J. Med. Genet. 38: 421-424 , 1991. [SP] [ajmg13.pdf (3.4 MB)]
089 - Perondini ALP , Otto PA. Evidence for selective differences in single-band polytene chromosome polymorphism in Sciara ocellaris. J. Heredity 82: 275-281, 1991. [SP] [jher07.pdf (4.4 MB)]
090- Vianna-Morgante AM , Otto PA. Notes on the population genetics of fragile X syndrome. Amer. J. Med. Genet. 43: 339-344, 1992. [SP] [ajmg12.pdf (893 kB)]
091 - Gerbase-DeLima M, Scala LCN, Temin J, Santos DV , Otto PA. Rheumatic fever and the HLA complex: a cosegregation study. Circulation 89: 138-141, 1994. [SP] [circ01.pdf (836 kB)]
092 - Penhalber EF, Barco LD, Maestrelli SRP , Otto PA. Dermatoglyphics in a large normal sample of caucasoids from Southern Brazil. Rev. Bras. Genét. 17: 197-214, 1994. [SP] [rbge11.pdf (756 kB)]
093 - Otto PA, Frota-Pessoa O , Polcan SP. Snyder's ratios with incomplete penetrance. J. Heredity 85: 331-335, 1994. [SP] [jher06.pdf (1.6 MB)]
094 - Fragoso C, Lima PRM, Nogueira LM, Marin EC, Krigner MRO, Cavana PV, D'Antonio SS, Otto PA, Frota-Pessoa O. Homosexuality and inbreeding. Rev. Bras. Genét. 17: 443-445, 1994. [SP] [rbge12.pdf ( 99 kB)]
095 - Ramirez CL, Dessen EMB, Otto PA. Inversion polymorphism in a natural population of Anopheles cruzii. Caryologia 47: 121-130, 1994. [SP] [cary01.pdf (1.2 MB)]
096 - Otto PA, Benedetti LA. A note on the graphical representation of genotype frequencies in population genetics. J. Heredity 86: 163-164, 1995. [SP] [jher05.pdf (711 kB)]
097 - Vianna-Morgante AM, Mingroni-Netto RC, Barbosa ACC, Otto PA, Rosenberg C. FRAXF in a patient with chromosome 8 duplication. J. Med. Genet. 33: 611-614, 1996. [SP] [jmge04.pdf (1.0 MB)]
098 - Agostini JMS, Otto PA, Wajntal A. Chromosome damage in underground coal miners: detection by conventional cytogenetic techniques and by submitting lymphocytes of unexposed individuals to plasma from at-risk groups. Rev. Bras. Genét. 19: 641-646, 1996. [SP] [rbge14.pdf (165 kB)]
099 - Vianna-Morgante AM, Azevêdo ES, Otto PA, Opitz JM. Encomium: Oswaldo Frota-Pessoa. Amer. J. Med. Genet. 63: 581-584, 1996. [RA] [ajmg10.pdf (465 kB)]
100 - Maestrelli SRP, Otto PA. Estimativa da penetrância e cálculo dos riscos de recorrência em doenças condicionadas por mecanismo hereditário autossômico dominante com penetrância incompleta. Rev. Bras. Dismorfol. Fonoaudiol. 1: 55-66, 1997 [SP] [rbdf01.pdf (383 kB)]
101 - Otto PA, Roda DS. Sex-ratio in Polwarth and Corriedale lambs. Bol. Ind. Anim. 54(2): 29-32, 1997. [SP] [bian05.pdf (1.1 MB)]
102 - Mingroni-Netto RC, Pavanello RCM, Otto PA, Vianna-Morgante AM. Experience with molecular and cytogenetic diagnosis of fragile X syndrome in Brazilian families. Rev. Bras. Genét. 20: 731-739, 1997. [SP] [rbge13.pdf (267 kB)]
103 - Otto PG, Otto PA, Frota-Pessoa O. Genética humana e clínica. Editora Roca Ltda., São Paulo, 1998, x + 334 pp. [DB]
104 - Oliveira JRM, Otto PA, Vallada H, Elkis H, Lauriano V, Elkis H, Lafer B, Vasquez L, Gentil V, Passos-Bueno MR, Zatz M. Analysis of a novel functional polymorphism within the promoter region of the serotonin transporter gene (5-HTT) in Brazilian patients affected by bipolar disorder and schizophrenia . Amer. J. Med. Genet. (Neuropsych. Genet.) 81:225-227, 1998. [SP] [ajmg07.pdf ( 52 kB)]
105 - Oliveira JRM, Gallindo RM, Maia LGS, Brito-Marques PR, Otto PA, Passos-Bueno MR, Zatz M. The short variant of the polymorphism within the promoter region of the serotonin transporter gene is a risk factor for late onset Alzheimer's disease. Molec. Psych. 3: 438-441, 1998. [SP] [mops01.pdf ( 44 kB)]
106 - Iughetti P, Otto PA, Zatz M, Bueno MRP, Marie SK. Different behavior in the paternally vs. maternally inherited mutated allele in Brazilian Machado-Joseph (MJD1) families. Am. J. Med. Genet. 77: 246-248, 1998. [SP] [ajmg03.pdf ( 55 kB)]
107 - Sumita DR, Vainzof M, Campiotto S, Cerqueira AM, Canovas M, Otto PA, Passos-Bueno MR, Zatz M. Absence of correlation between skewed X inactivation in blood and serum creatine-kinase levels in Duchenne/Becker female carriers. Am. J. Med. Genet. 80: 356-361, 1998. [SP] [ajmg02.pdf ( 92 kB)]
108 - Oliveira JRM, Shimokomaki CM, Brito-Marques PR, Gallindo RM, Okuma M, Maia LGS, Otto PA, Passos-Bueno MR, Zatz M. The association of the short variant of the 5-HTTPLR polymorphism and the apoE e4 allele does not increase the risk for late onset Alzheimer's disease. Molec. Psych. 4: 19-20, 1999. [SP] [mops02.pdf ( 27 kB)]
109 - Allingham-Hawkins DJ, Babul-Hirji R, Chitayat D et al. Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X Study - preliminary data. Amer. J. Med. Genet. 83: 322-325, 1999 [SP] [ajmg04.pdf (243 kB)]
110 - Braga MCC, Otto PA, Spinelli M. Recurrence risks in cases of non-syndromic deafness. Rev. Bras. Dismorfol. Fonoaudiol. 2: 33-40, 1999. [SP] [rbdf02.pdf (2.5 MB)]
111 - Soares-Vieira JA, Billerbeck AEC, Iwamura ESM, Otto PA, Muñoz DR. Gene and genotype frequencies for HLA-DQA1 in Caucasians and Mulattoes in Brazil. J. For. Sci. 44: 1051-1052, 1999. [TC] [jfsc04.pdf ( 72 kB)]
112 - Vianna-Morgante AM, Costa SS, Pavanello RCM, Otto PA, Mingroni-Netto RC. Premature ovarian failure (POF) in Brazilian fragile X carriers. Genet. Mol. Biol. 22: 471-474,1999. [SP] [gmbi01.pdf ( 19 kB)]
113 - Nuin PAS, Otto PA. A program for representing and simulating population genetic phenomena. Genet. Mol. Biol. 23: 53-60, 2000. [SP] [gmbi03.pdf (104 kB)]
114 - Soares-Vieira JA, Billerbeck AEC, Iwamura ESM, Muñoz DR, Otto PA. Allele and genotype frequencies for D1S80 locus in a Brazilian population sample. J. For. Sci. 45: 696-697, 2000. [SP] [jfsc03.pdf ( 74 kB)]
115 - Oliveira JRM, Carvalho DR, Pontual D, Gallindo RM, Sougey EB, Gentil V, Lafer B, Maia LGS, Morais Jr MA, Matioli S, Vallada H, Moreno RA, Nishimura A, Otto PA, Passos-Bueno MR, Zatz M. Analysis of the serotonin transporter polymorphism (5-HTTLPR) in Brazilian patients affected by dysthymia, major depression and bipolar disorder. Molec. Psych. 5: 348-349, 2000. [SP] [mops03.pdf (118 kB)]
116 - Braga MCC, Otto PA, Frota-Pessoa O. Calculation of recurrence risks for heterogeneous genetic disorders. Amer. J. Med. Genet. 95: 36-42, 2000. [SP] [ajmg01.pdf (143 kB)]
117 - Otto PA, Maestrelli SRP. Heterozygosity probabilities for normal relatives of isolated cases affected by incompletely penetrant conditions and the calculation of recurrence risks for their offspring. I. Autosomal dominant genes. Amer. J. Med. Genet. 95: 43-48, 2000. [SP] [ajmg05.pdf (132 kB)]
118 - Barbosa ACC, Otto PA, Vianna-Morgante AM. Replication timing of homologous a-satellite DNA in Roberts syndrome. Chromosome Res. 8: 645-650, 2000. [SP] [chre01.pdf ( 83 kB)]
119 - Praxedes LA, Otto PA. Estimation of penetrance from twin data. Twin Res. 3: 294-298, 2000. [SP] [twre01.pdf ( 65 kB)]
120 - Albertani F, Martuscelli P, Yamashita C, Otto PA, Wajntal A. Genetic variability estimates in the Marajó yellow-crowned amazon (Amazona ochrocephala xantholaema)(Psittacidae). Ornitol. Neotrop. 11: 307-314, 2000. [SP] [orne01.pdf (448 kB)]
121 - Otto PA. Drosophila Viewer: a program on the formal genetics, anatomy and developmental biology of Drosophila melanogaster for students and specialists. Dros. Informat. Serv. 83: 207-219, 2000. [SP] [dris01.pdf (6.2 kB)]
122 - Otto PA. Drosophila Viewer: a program on the formal genetics, anatomy and developmental biology of Drosophila melanogaster for students and specialists. Genet. Mol. Biol. 23: 835-839, 2000. [SP] [gmbi02.pdf (791 kB)]
123 - Nishimura AL, Oliveira JRM, Otto PA, Matioli SR, Brito-Marques PR, Bahia VS, Nitrini R, Zatz M. No evidence of association between the D10S1423 locus and Alzheimer disease in Brazilian patients. J. Neural Transmission 108: 305-310, 2001. [SP] [jntr01.pdf ( 57 kB)]
124 - Braga MCC, Otto PA. Aconselhamento genético da deficiência auditiva. Rev. Med. FMUSP 80(1): 1-6, 2001. [SP] [rmed01.pdf (2.9 MB)]
125 - Soares-Vieira JA, Munoz DR, Iwamura ES, Billerbeck AE, Otto PA. Allele frequency distribution of three STR loci (CSF1PO, TPOX, and TH01) in a Brazilian population sample. J. For. Sci. 46: 996-997, 2001. [SP] [jfsc02.pdf (224 kB)]
126 - Soares-Vieira JA, Billerbeck AE, Pinto EM, Iwamura ES, Mendonca BB, Otto PA. Population genetics of nine short tandem repeat loci: allele frequency distribution in a Brazilian population sample. Amer. J. For. Med. Pathol. 23: 186-190, 2002. [SP] [ajfm02.pdf ( 42 kB)]
127 - Gaspar DA, Matioli SR, Pavanello RC, Araujo BC, Andre 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. 23: 364-374, 2002. [SP] [geep01.pdf (113 kB)]
128 - Pardono E, van Bever E, van den Ende J, Havrenne PC, Iughetti P, Maestrelli SRP, Costa F O, Richieri-Costa A, Frota-Pessoa O, Otto PA. Waardenburg syndrome: Clinical differentiation between types I and II. Amer. J. Med. Genet. 117A: 223-235, 2003. [SP] [ajmg06.pdf (252 kB)]
129 - Soares-Vieira JA, Billerbeck AE, Iwamura ESM, Otto PA. Brazilian population data on the polymerase chain reaction-based loci LDLR, GYPA, HBGG, D7S8, and Gc. Amer. J. For. Med. Pathol. 24: 283-287, 2003. [SP] [ajfm01.pdf (191 kB)]
130 - Fertuzinhos SM, Oliveira JR, Nishimura AL, Pontual D, Carvalho DR, Sougey EB, Otto PA, Zatz M. Analysis of IL-1alpha, IL-1beta, and IL-RA polymorphisms in dysthymia. J. Mol. Neurosci. 22: 251-256, 2004. [SP] [jmne02.pdf ( 70 kB)]
131 - Nishimura AL, Oliveira JR, Mitne-Neto M, Guindalini C, Nitrini R, Bahia VS, Brito-Marques PR, Otto PA, Zatz M. Lack of association between the brain-derived neurotrophin factor (C-270T) polymorphism and late-onset Alzheimer's disease (LOAD) in Brazilian patients. J. Mol. Neurosci. 22: 257-260, 2004. [SP] [jmne03.pdf ( 63 kB)]
132 - Cotrim NH, Auricchio MT, Vicente JP, Otto PA, Mingroni-Netto RC. Polymorphic Alu insertion in sex Brazilian African-derived populations. Amer. J. Human Biol. 16: 264-277, 2004. [SP] [ajhb01.pdf (228 kB)]
133 - Braga MCC, Otto PA. Recurrence risks for isolated cases of nonsyndromic deafness. Genet. Mol. Biol. 27: 154-161, 2004. [SP] [gmbi05.pdf (280 kB)]
134 - Soares-Vieira JA, Billerbeck AE, Iwamura ESM, Gattás GJF, Bydlowski SP, Otto PA. Distribution of HLA-DQ1, LDLR, GYPA, HBGG, D7S8 and Gc alleles in a Black population sample from São Paulo, Brazil. J. For. Sci. 49: 1374-1375, 2004. [SP] [jfsc01.pdf ( 40 kB)]
135 - Varela MC, Kok F, Otto PA, Koiffmann CP. Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects. Eur. J. Hum. Genet. 12: 987-992, 2004. [SP] [ejhg01.pdf ( 86 kB)]
136 - Praxedes LA, Otto PA. Aspectos genéticos da neurofibromatose. In Geller M, Bonalumi-Filho A (org.), Neurofibromatose: clínica, genética e terapêutica, Editora Guanabara Koogan, Rio de Janeiro, 2004, pp. 66-76. [BC] [neurof_geller.pdf (8.6 MB)]
137 - Nishimura AL, Guindalini C, Oliveira JR, Nitrini R, Bahia VS, Brito-Marques PR, Otto PA, Zatz M. Monoamine oxidase a polymorphism in Brazilian patients: risk factor for late-onset Alzheimer's disease? J. Mol. Neurosci. 27: 213-218, 2005. [SP] [jmne01.pdf (1.2 MB)]
138 - Rosenberg C, Knijnenburg J, Bakker E, Vianna-Morgante A, Sloos WC, Otto PA, Kriek M, Hansson K, Krepisch-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. 43: 180-186, 2006. [SP] [jmge01.pdf (1.0 MB)]
139 - 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 tRNA Ser(UCN) mitochondrial mutations in hearing-impaired Brazilian patients. Braz. J. Med. Biol. Res. 39: 219-226, 2006. [SP] [rbpb01.pdf (525 kB)]
140 - Abreu-Silva RS, Batissoco AC, Lezirovitz K, Romanos J, Rincon D, Auricchio MTBM, 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. Comm. 343: 675-676, 2006. [SP] [bbrc01.pdf (104 kB)]
141 - Cheroki C, Krepischi-Santos AC, Rosenberg C, Jehee FS, Mingroni-Netto RC, Pavanelo 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. Amer. J. Med. Genet. 140A: 1339-1342, 2006. [SP] [ajmg09.pdf (216 kB)]
142 - Nascimento RMP, Otto PA, Arjan PM, de Brouwer APM, Vianna-Morgante AM. UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome. Amer. J. Hum. Genet. 79: 549-555, 2006. [SP] [ajhg01.pdf (1.0 MB)]
143 - Scalco FB, Otto PA, Brunetti IL, Cruzes VM, Moretti-Ferreira D. Smith-Lemli-Opitz syndrome: clinical and biochemical findings in Brazilian patients. Genet. Mol. Biol. 29: 429-436, 2006. [SP] [gmbi06.pdf (141 kB)]
144 - Pardono E, Mazzeu JF, Lezirovitz K, Auricchio MTBM, Iughetti P, Nascimento RMP, Mingroni-Netto RC, Otto PA. Waardenburg syndrome: description of two novel mutations in the PAX3 gene, one of which incompletely penetrant. Genet. Mol. Biol. 29: 601-604, 2006. [SP] [gmbi04.pdf (103 kB)]
145 - Krepischi-Santos ACV, 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. 115: 254-261, 2006. [SP] [cgre01.pdf (260 kB)]
146 - Otto PA, Mingroni Netto RC, Vianna Morgante AM. Princípios de genética humana e médica. In Lopes AC, Amato Neto V (ed.), Tratado de clínica médica, Editora Roca, São Paulo, 2006, Volume I, pp. 280-311 (2d Edição, Volume II, pp. 1816-1847, 2009; 3d Ed., Volume I, pp. 1246-1274, 2016). [BC] [princ_genet.pdf (1.8 MB)]
147 - Otto PA. Aconselhamento genético e cálculo de riscos. In Lopes AC, Amato Neto V (ed.), Tratado de clínica médica, Editora Roca, São Paulo, 2006, Volume I, pp. 311-322 (2d Edição, Volume II, pp. 1847-1858, 2009; 3d Edição, Volume I, pp. 1274-1284, 2016). [BC] [princ_genet.pdf (1.8 MB)]
148 - Mazzeu JF, Pardono E, Morgante AMV, Richieri-Costa A, Kim CA, Martelli L, Andrade CEF, Colin G, Otto PA. Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome. Amer. J. Med. Genet. 143A: 320-325, 2007. [SP] [ajmg08.pdf ( 95 kB)]
149 - Mazzeu JF, Krepischi-Santos AC, Rosenberg C, Szuhai K, Knijnenburg J, Weiss J, Kerkis I, Mustacchi Z, Colin G, Mombach R, Pavanello RCM, Otto PA, Vianna-Morgante AM. Chromosomal abnormalities in two patients with features of autosomal dominant Robinow syndrome. Amer. J. Med. Genet. 143A: 1790-1795, 2007. [SP] [ajmg11.pdf (166 kB)]
150 - Otto PA, Frota-Pessoa O, Vieira-Filho J. Genetic risks of consanguineous marriages. In Mayo O, Leach C (ed.),Fifty years of human genetics: A Festschrift and liber amicorum to celebrate the life and work of George Robert Fraser, Wakefield Press, Adelaide, 2007, pp. 436-442. [BC] [cons_fraser.pdf (190 kB)]
151 – Cheroki C, Krepischi-Santos ACV, Szuhai K, Brenner V, Kim CAE, Otto PA, Rosenberg C. Genomic imbalances associated with Müllerian aplasia. J. Med. Genet. 45: 228-232, 2008. [SP] [jmge03.pdf (709 kB)]
152 – Lezirovitz K, Maestrelli SR, Cotrim NH, Otto PA, Pearson PL, Mingroni-Netto RC. A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3. Hum. Genet. 123: 625–631, 2008. [SP] [huge04.pdf (409 kB)]
153 - Soares-Vieira JA, Billerbeck AEC, Iwamura ESM, Mendonça BB, Gusmão L, Otto PA. Population and mutation analysis of Y-STR loci in a sample from the city of São Paulo (Brazil). Genet. Mol. Biol. 31: 651-656, 2008. [SP] [gmbi07.pdf (112 kB)]
154 - Soares-Vieira JA, Billerbeck AEC, Iwamura ESM, Mendonça BB, Gusmão L, Otto PA. Y-chromosomal STR haplotypes in a sample from São Paulo (Brazil). Forensic Sci. Int. Gene. Suppl. 1: 248-249, 2008. [SP] [fsig01.pdf ( 94 kB)]
155 – Praxedes LA, van den Ende J, van Bever Y, Kim CA, Otto PA. Genetic and clinical aspects of neurofibromatosis type 1: study of a large sample of affected Brazilian individuals. Rev. Bras. Med. 65: 331-336, 2008. [SP] [rbme03.pdf (427 kB)]
156 – Santos SC, Pardono E, Costa MIF, Melo NA, Graciani Z, Souza ACA, Lezirovitz K, Thiele-Aguiar RS, Mingroni-Netto RC, Opitz JM, Kok F, Otto PA. A previously undescribed syndrome combining fibular agenesis / hypoplasia, oligodactylous clubfeet, anonychia / ungual hypoplasia, and other defects. Amer. J. Med. Genet. 146A: 3126-3131, 2008. [SP] [ajmg20.pdf (210 kB)]
157 - Lezirovitz K, Braga MCC, Thiele-Aguiar RS, Auricchio MTBM, Pearson PL, Otto PA, Mingroni-Netto RC. A novel autosomal dominant deafness locus (DFNA58) maps to 2p12-p21. Clin. Genet. 123: 625-631, 2008. [SP] [clge01.pdf (267 kB)]
158 – Otto PA. Métodos clásicos y modernos para el análisis de datos en genética humana. EdUNaM (Editorial Universitaria de la Universidad Nacional de Misiones, Argentina), Posadas, 2008, 266 pp. [DB]
159 – Otto PA. Genética de poblaciones humanas. EdUNaM (Editorial Universitaria de la Universidad Nacional de Misiones, Argentina), Posadas, 2008, 214 pp. [DB]
160 – Otto PA. Asesoramiento genético y cálculo de riesgo. EdUNaM (Editorial Universitaria de la Universidad Nacional de Misiones, Argentina), Posadas, 2008, 120 pp. [DB]
161 - Batissoco AC, Abreu-Silva RS, Braga MC, Lezirovitz K, Della-Rosa V, Tabith Jr A, Otto PA, Mingroni-Netto RC. Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling. Ear Hear 30: 1-7, 2009. [SP] [eahe01.pdf (395 kB)]
162 – Orabona GM, Griesi-Oliveira K, Vadasz E, Bulcão VLS, Takahashi VNVO, Moreira ES, Furia-Silva M, Ros-Melo MAS, Dourado F, Matioli SR, Otto PA, Passos-Bueno MR. HTR1B and HTR2C in autism spectrum disorder in Brazilian families. Brain Res. 1250: 14-19, 2009. [SP] [brre01.pdf (258 kB)]
162a - Supplementary material doi:10.1016/j.brainres.2008.11.007 Otto PA. APPENDIX: The assessment of linkage disequilibrium values for X-linked loci in control/case studies. http://www.sciencedirect.com/science /MiamiMultiMediaURL/.../applic1.doc. [SP] [brre01_s.pdf (69 kB)]
162b - Corrigendum. Brain Res. 1264: 127, 2009.
163 - Jehee FS, Burin BA, Rocha KM, Zechi-Ceide R, Bueno DF, Brito L, Souza J, Leal GF, Richieri-Costa A, Alonso N, Otto PA, Passos-Bueno MR. Novel mutations in IRF6 in non-syndromic cleft lip with or without cleft palate: When should IRF6 mutational screening be done? Amer. J. Med. Genet. 149 A: 1319-1322, 2009. [SP] [ajmg21.pdf (134 kB)]
164 – Macedo-Souza LI, Kok F, Santos S, Licínio L, Lezirovitz K, Cavaçana N, Bueno C, Amorim S, Pessoa A, Graciani Z, Ferreira A, Prazeres A, Melo NA, Otto PA, Zatz M. Spastic paraplegia, optic atrophy, and neuropathy: new observations, locus refinement, and exclusion of candidate genes. Ann. Hum. Genet. 73: 382–387, 2009. [SP] [ahge01.pdf (169 kB)]
165 - Krepischi-Santos ACV, Rajan D, Temple IK, Shrubb V, Crolla JA, Huang S, Beal S, Otto PA, Carter NP, Vianna-Morgante AM, Rosenberg C. Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions at 17p13.1. Cytogenet. Genome Res. 125: 1-7, 2009. [SP] [cgre02.pdf (1.6 MB)]
166 - Catelani ALPM, Krepischi-Santos ACV, Kim CA, Kok F, Otto PA, Auricchio MTBM, Mazzeu JF, Daniela T. Uehara DT, Costa SS, Knijnenburg J, Tabith Jr A, Vianna-Morgante AM, Mingroni-Netto RC, Rosenberg C. Chromosome imbalances in syndromic hearing loss. Clin. Genet. 76: 458-464, 2009. [SP] [clge02.pdf (638 kB)]
167 – Otto PA. Obituary: Professor C. Pavan (1919-2009). Evolution 63: 2211-2212, 2009. [RA] [evol01.pdf ( 86 kB)]
168 - Vianna-Morgante AM, Otto PA. Obituary: Oswaldo Frota-Pessoa (1917-2010): A successful three-lane road in science. Genet. Mol. Biol. 33: i-ii, 2010. [RA] [gmbi10.pdf (639 kB)]
169 - 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: 79-83, 2010. [SP] [dene01.pdf (564 kB)]
170 - Santos S, Kok F, Weller M, Paiva FRLP, Otto PA. Inbreeding levels in Northeastern Brazil: strategies for the prospection of new genetic disorders. Genet. Mol. Biol. 33: 220-223, 2010. [SP] [gmbi08.pdf ( 86 kB)]
171 - Horimoto ARVR, Onodera MT, Otto PA. Pencalc: a program for penetrance estimation in autosomal dominant diseases. Genet. Mol. Biol. 33: 455-459, 2010. [SP] [gmbi09.pdf (266 kB)]
171a – Suppl. Mat.: Horimoto ARVR, Otto PA. PENCALC: USER’S MANUAL.pdf. [SP] [gmbi09_s.pdf 283 kB)]
172 - 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. [SP] [msyn01.pdf ( 88 kB)]
173 - Otto PA. Construção e uso de um micrótomo de mão, empregado para obtenção de cortes finos de tecidos vegetais e animais. Genét. Esc. 6(1): 46-52, 2011. [RA] [gees01.pdf (1.1 MB)]
174 - Otto PA. Noções básicas de genética humana e médica em gastroenterologia. In Zaterka S, Eisig JN (ed.), Tratado de gastroenterologia, Editora Atheneu, São Paulo, 2011, pp. 1217-1234. [BC] [gastro_zaterk.pdf (1.0 MB)]
175 - Abreu-Silva RS, Rincon D, Horimoto ARVR, Sguillar AP, Ricardo LAC, Kimura L, Batissoco AC, Auricchio MTBM, Otto PA, Mingroni-Netto RC. The search of a genetic basis for noise induced hearing loss (NIHL). Ann. Hum. Biol. 38: 210-218, 2011. [SP] [ahbi01.pdf (162 kB)]
176 - Brito LA, Cruz LA, Rocha KM, Barbara LK, Silva CB, Bueno DF, Aguena M, Bertola DR, Franco D, Costa AM, Alonso N, Otto PA, Passos-Bueno MR. Genetic contribution for non-syndromic cleft lip with or without cleft palate (NS CL/P) in different regions of Brazil and implications for association studies. Amer. J. Med. Genet. 155 A: 1581-1587, 2011. [SP] [ajmg22.pdf (287 kB)]
177 - Otto PA, Horimoto ARVR. Penetrance rate estimation in autosomal dominant conditions. Genet. Mol. Biol. 35: 583-588, 2012. [SP] [gmbi12.pdf (175 kB)]
177a - Otto PA, Horimoto ARVR. Penetrance rate estimation in autosomal dominant conditions. Errata. Genet. Mol. Biol. 35 : 898, 2012.
178 - Otto PA. In memory of James F. Crow (1916-2012), a life dedicated to population genetics; with an updated list of his publications. Genet. Mol. Biol. 35: 200-201, 2012. [RA] [gmbi11.pdf ( 67 kB)]
178a - Otto PA. Supplementary Material: Detailed bibliography of Prof. Dr. James F. Crow (1939-2011). http://www.scielo.br/pdf/gmb/v35n1/a28_s.pdf. [RA] [gmbi11s.pdf (456 kB)]
179 - Otto PA, Mingroni-Netto RC, Otto PG. Genética Médica. Editora Roca Ltda., São Paulo, 2013, 440 + viii pp. CIP BRASIL 13-0302 ISBN 978-85-4120-161-2 [DB]
180 – Fonseca AC, Bonaldi A, Bertola DR, Kim CA, Otto PA, Vianna-Morgante AM. The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia. BMC Med. Genet. 14: 50, 2013. [SP] [bmcg01.pdf (1.5 MB)]
181 – Salles MM, Otto PA. A note on the population genetic consequences of delayed larval development in insects. Genet. Mol. Biol. 36: 430-437, 2013. [SP] [gmbi13.pdf (995 kB)]
182 - Silva AG, Krepischi AC, Torrezan GT, Capelli LP, Carraro DM, D'Angelo CS, Koiffmann CP, Zatz M, Naslavsky MS, Masotti C, Otto PA, Achatz MI, Mills RE, Lee C, Pearson PL, Rosenberg C. Does germ-line deletion of the PIP gene constitute a widespread risk for cancer? Eur. J. Hum. Genet. 22: 307-309, 2014. [SP] [ejhg02.pdf (352 kB)]
183 – Lemes RB, Nunes K, Meyer D, Mingroni-Netto RC, Otto PA. Estimation of inbreeding and substructure levels in African-derived Brazilian quilombo populations. Hum. Biol. 86: 276-288, 2014. [SP] [hubi01.pdf (867 kB)]
184 – Vianna-Morgante AM, Otto PA. Os caminhos de Oswaldo Frota-Pessoa na pesquisa, no ensino, na divulgação de ciência. In Magalhães LE (org.), Humanistas e cientistas do Brasil: ciências da vida, EDUSP, São Paulo, 2015, pp. 319-326. [BC/RA] [biogr_ofpes.pdf (2.0 MB)]
185 - Alves LU, Pardono E, Otto PA, Mingroni-Netto RC. A novel c.1037C>G (p.Ala346Gly) mutation in TP63 as cause of EEC syndrome. Genet. Mol. Biol. 38: 37-41, 2015. [SP] [gmbi14.pdf (1.3 MB)]
186 – Otto PA, Lemes RB. A note on the variance of the estimate of the fixation index F. J. Genet. 94: 759-763, 2015. [SP] [jgen01.pdf (200 kB)]
187 - Fonseca ACS, Bonaldi A, Fonseca SAS, Otto PA, Kok F, Bak M, Tommerup N, Vianna-Morgante AM. The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation. Mol. Cytogenet. 8: 106, 2015. doi: 10.1186/s13039-015-0205-9. [SP] [molc01.pdf (2.9 MB)]
188 – Alves LU, Perez ABA, Alonso LG, Otto PA, Mingroni-Netto RC. Novel frameshift variant in gene SALL4 causing Okihiro syndrome. Eur. J. Med. Genet. 59: 80-85, 2016. [SP] [ejmg01.pdf (1.0 MB)]
189 – Otto PA. Response to Chakraborty R. Comments on ‘A note on the variance of the estimate of the fixation index F’ (Otto and Lemes 2015 J. Genet. 94, 759-763). J. Genet. 96: 230, 2016. [SP] [jgen02.pdf (449 kB)]
190 – Otto PA, Deguti MM, Araújo TF, Barbosa ER, Bem RSD, Araújo FC, Cançado LR. Estimation of allele frequencies and population incidence of Wilson Disease in Brazil. Prensa Med. Arg. 102(5): 1-4, 2016. doi: 10.4172/ lpma.1000226. https://www.researchgate.net/publication/313867352 [SP] [pmar01.pdf (356 kB)]
191 - Otto PA, Dessen EMB. Observação da estrutura interna dos vegetais. Guia de uso de micrótomo manual. Publicação do Centro de Estudos do Genoma Humano e Células tronco. 2016. http://genoma.ib.usp.br/sites/default/files/ protocolos-de-aulas-praticas/ microtomo.pdf, manual_1.pdf, manual_2.pdf. [RA] [microt.pdf (6.0 MB)]
192 - Stark AE, Otto PA. Edward Maxwell (Max) Nicholls (1927-2011), a key player in the development of the two-hit model of tumor formation. Twin Res. Hum. Genet. 19: 402-403, 2016. [RA] [twre02.pdf ( 60 kB)]
193 – Otto PA, Dessen EMB, Mori L. Utilização de modelos de Drosophila no estudo de padrões de herança autossômica e ligada ao sexo. Genét. Esc. 12 (1): 72-87, 2017 (https://www.flipsnack.com/Eveli/revista-genetica-na-escola-volume-12-numero-1.html?p=4, http://media.wix.com/ugd/
b703be_f4a88e99dd55493286205a1418321cf3.pdf). [RA] [gees02.pdf (8.6 MB)]
193a - Otto PA, Dessen EMB, Mori L. Supplementary material: Figuras de drosófilas. Genét. Esc. 2017. https://www.flipsnack.com/Eveli/revista-genetica-na-escola-volume-12-numero-1.html?p=4, http://media.wix.com/ugd/
b703be_2f8181e2c32840acb58ac7fc07392527.pdf. [RA] [gees02s.pdf (2.1 MB)]
194 - Alves LU, Santos S, Musso CM, Ezquina1 SAM, Opitz JM, Kok F, Otto PA, Mingroni-Netto RC. Santos syndrome is caused by mutation in the WNT7A gene. J. Hum. Genet. 62: 1073-1078, 2017. [SP] [jhge01.pdf (818 kB)]
195 – Mingroni-Netto RC, Dias AMM, Otto PA. A contribuição do Laboratório de Genética Humana – IBUSP – ao aconselhamento genético de indivíduos e famílias com deficiência auditiva. In Silva S, Digiampietri L (org.), (Re)conhecendo a USP: contribuições do ensino, da pesquisa e da extensão no campo das deficiências. FEUSP, São Paulo, 2017, pp. 269-280. http://www.livrosabertos.sibi.usp.br/portaldelivrosUSP/ [RA] [defic_usp.pdf (190 kB)]
196 - D’Angelo CS, Varela MC, Castro CIE, Otto PA, Perez ABA, Lourenço CM, Kim CA, Bertola DR, Kok F, Alonso LG, Koiffmann CP. Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity. Mol. Cytogenet. 11: 14, 2018. doi: 10.1186/s13039-018-0363-7. [SP] [mocy01.pdf (2.6 MB)]
197 – Bocangel MAP, Alves LU, Lourenço N, Mello U, Marcolino H, Pardono E, Otto PA, Mingroni-Netto RC. Waardenburg syndrome: novel mutations in a large Brazilian sample. Eur. J. Med. Genet. 61: 348-354, 2018. doi: 10.1016/j.ejmg.2018.01.012. [SP] [ejmg02.pdf (696 kB)]
198 - Malvezzi JVM, Magalhaes IOH, Costa SS, Otto PA, Rosenberg C, Bertola DR, Fernandes WLM, Vianna-Morgante AM, Krepischi ACV. KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability. Hum. Genome Var. 5: 18010, 2018. doi: 10.1038/hgv.2018.10. [SP] [hgva01.pdf (1.3 MB)]
199 - Lemes RB, Nunes K, Carnavalli JEP, Kimura L, Mingroni-Netto RC, Meyer D, Otto PA. Inbreeding estimates in human populations: applying new approaches to an admixed Brazilian isolate. Plos One 13(4): e0196360, 2018. doi:10.1371/journal.pone.0196360. [SP] [plos01.pdf (1.8 MB)]
200 – Santos A, Campagnari F, Krepischi ACV, Câmara MLR, Brasil RCEA, Vieira L, Vianna-Morgante AM, Otto PA, Pearson PL, Rosenberg C. Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion. Chromosome Res. 2018. doi:10.1007/s10577-018-9578-z. [SP] [chre02.pdf (1.3 MB)]
201 - Carneiro TNR, Krepischi ACV, Costa S, Silva IT, Vianna-Morgante AM, Lemes RB, Ezquina S, Bertola DR, Otto PA, Rosenberg C. Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases. Appl. Clin. Genet. 11: 93-98, 2018. [SP] [acge01.pdf (917 kB)]
202 - Oliveira JF, Prado PFV, Costa SS, Sforça ML, Canateli C, Ranzani AT, Maschietto M, Oliveira PSL, Otto PA, Klevit RE, Krepischi ACV, Rosenberg C, Franchini KG. Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability. Nat. Chem. Biol. 15: 62-70, 2019. doi: 10.1038/s41589-018-0177-2. [SP] [ncbi01.pdf (2.9 MB)]
203 – Raices JB, Otto PA, Vibranovski MD. Haploid selection drives new gene male germline expression. Genome Res. 29: 1115-1122, 2019. doi: 10.1101/gr.238824.118. [SP] [gere01.pdf (2.2 MB)]
203a – Suppl. mat.: Model of positive selection and fixation of new alleles.: https://genome.cshlp.org/content/suppl/2019/06/18/
gr.238824.118.DCI/Supplemental_Methods.pdf [SP] [gere01_s (579 kB)]
204 – Mingroni-Netto RC, Otto PA. Perda auditiva de origem genética. In Kim CE et al. (edit.), Genética na prática pediátrica (2a Edição), Editora Manole, São Paulo, 2019, pp. 412-433. [BC] [surdez_chong.pdf (369 kB)]
205 - Mingroni-Netto RC, Otto PA. Deficiência auditiva. In Pedroso JL et al. (edit.). Neurogenética na prática clínica, Atheneu, São Paulo, 2019, pp. 515-532. [BC] [surdez_kok.pdf ( 11 MB)]
206 – Santos FAB, Lemes RB, Otto PA. HW_TEST, a program for comprehensive HARDY-WEINBERG equilibrium testing. Genet. Mol. Biol. 43(2): e20190380, 2020. doi: 10.1590/1678-4685-GMB-2019-0380. [SP] [gmbi15.pdf (822 kB)]
206a – Suppl. mat.: Santos FAB, Lemes RB, Otto PA. HW-TEST USER’S MANUAL.pdf. https://github.com/Lemes-RenanB/
HardyWeinbergTesting. [SP] [gmbi15_s (241 kB)]
207 - Otto PA, Lemes RB, Farias AA, Weller M, Lima SOA, Albino V, Marques Y, Pardono E, Bocángel MAP, Santos SC. The structure of first-cousin marriages in Brazil. Sci. Reports 10: 15573, 2020. doi.org/10.1038/s41598-020-72366-z. [SP] [scir01.pdf (1.1 MB)]
207a – Suppl. mat.: Otto PA, Lemes RB, Farias AA, Weller M, Lima SOA, Albino V, Marques Y, Pardono E, Bocángel MAP, Santos SC. The structure of first-cousin marriages in Brazil. https://doi.org/10.1038/s41598-020-72366-z. [SP] [scir01_s.pdf (148 kB)]
208 – Souza LS, Almeida CF, Yamamoto GL, Pavanello RCM, Gianetti JG, Costa SS, Anequini IP, Carmo SA, Wang JYT, Scliar MO, Castelli EC, Otto PA, Zanoteli E, Vainzof M. Manifesting carriers of X-linked Myotubular Myopathy: genetic modifiers modulating the phenotype. Neurol. Genet. 6: e513, 2020. doi: 10.1212/NXG.0000000000000513. [SP] [nege01.pdf (304 kB)]
208a – Suppl. Mat.: Souza LS et al. Manifesting carriers of X-linked Myotubular Myopathy: genetic modifiers modulating the phenotype. Method for Estimating the Penetrance Rate K in Female Carriers of MTM1 Mutations. lww.com/NXG/A314/ nxg_2020_08_10_vainzof_1_ sdc1.pdf. [SP] [nege01_s.pdf (182 kB)]
209 – Tolezano GC, Costa SS, Scliar MO, Fernandes WLM, Otto PA, Bertola DR, Rosenberg C, Vianna-Morgante AM, Krepischi ACV. Investigating genetic factors contributing to variable expressivity of class I 17p13.3 microduplications. Int. J. Mol. Cell. Med. 9: 296-306, 2020. doi: 10.22088/IJMCM.BUMS.9.4.296. [SP] [ijmc01.pdf (430 kB)]
210 - Otto PA. Evolution of sex-ratio: brief review with mathematical study of some simple novel models. Genet. Mol. Biol. 4(3): e20210053, 2021. doi: 10.1590/1678-4685-GMB-2021-0053. eCollection 2021. [SP] [gmbi16.pdf (1.1 MB)]
211 - Otto PA. Obituary: Antonio Richieri da Costa (1946-2019). Genet. Mol. Biol. 2021. https://www.gmb.org.br/obituaries/ b703be_8fb72b927eaf41f783294e2678cca714.pdf. [RA] [gmbi17.pdf ( 97 kB)]
212 - Silva MVR, Castro MV, Passos-Bueno MR, Otto PA, Naslavsky MS, Zatz M. Men are the main COVID-19 transmitters: behavior or biology? MedRxiv preprint. https://www.medrxiv.org/content/10.1101/2021.08.18.21262187v1.
full-text. Discov. Ment. Health. 2(1): 2022. doi: 10.1007/s44192-022-00004-3. [SP] [mehe01.pdf (735 kB)]
213 - Lima AR, Ferreira BM, Zhang C, ..., Otto PA, ..., Vianna-Morgante AM, Carvalho CMB, Mazzeu JF. Phenotypic and mutational spectrum of ROR2-related Robinow syndrome. Hum. Mutat. 43: 900-918, 2022. doi: 10.1002/humu.24375. [SP] [humu01.pdf (3.0 MB)]
214 - Otto PA. Elementary atlas of Drosophila melanogaster mutations. Genet. Mol. Biol. 45(4): e20220211, 2022. doi: 10.1590/1678-4685-GMB-2022-0211. eCollection 2022. PMID: 36264083 WOS:000886644300001 [BR] [gmbi18.pdf (1.2 MB)]
215 - Otto PA. Elementary atlas of Drosophila melanogaster mutations. Editora da Sociedade Brasileira de Genética, Ribeirão Preto, 2022, 223 pp. ISBN 978-65-89156-07-09 (e-book). Available at the e-book site of the Sociedade Brasileira de Genética. [DB]
216 - Costa G, Santos TC, Angialossy V, Caly LFP, Pinheiro MMLS, Dessen EMB, Otto PA. Obtenção e coloração de cortes histológicos. Publicação do Centro de Estudos do Genoma Humano e Células tronco. https://genoma.ib.usp.br/protocolos-de-aulas-praticas/44, 1-21, 2022. [RA] [histve.pdf ( 12 MB)]
217 - Otto PA. Edith M. Wallace (1881?-1964): A belated eulogy to an unsung heroine of science. Dros. Inf. Serv. 105: 95-100, 2022. [RA] [dris02.pdf (881 kB)]
218 - Carvalho LML, Pinto CF, Scliar MO, Otto PA, Krepischi ACV, Rosenberg C. SCAF4-related syndromic intellectual disability. Amer. J. Med. Genet. 191A: 570-574, 2023. https://doi.org/10.1002/ajmg.a.63032. [SP] [ajmg23.pdf (3.7 MB)]
219 - Chaves LD, Carvalho LML, Tolezano GC, Pires SF, Costa SS, Scliar MO, Giuliani LR, Bertola DR, Santos-Rebouças CB, Seo GH, Otto PA, Rosenberg C, Vianna-Morgante AM, Krepischi ACV. Skewed X-chromosome inactivation in women with idiopathic intellectual disability as indicative of pathogenic variants. Research Square Preprint . https://doi.org/10.21203/rs.3.rs-1859222/v1. Mol. Neurobiol. doi.org/10.1007/s12035-023-03311-0, 2023. [SP] [mone01.pdf (1.4 MB)]
220 - Otto PA. Obituary: Thomaz Rafael Gollop (1947-2023). Genet. Mol. Biol. 2023. https://b703be96-8610-4aaf-bcaa-1889ca1c9659 .usrfiles.com/ugd/b703be_cffea04a22444b88b5bcd4222ef532aa.pdf). [RA] [gmbi19.pdf (116 kB)]