Decio Brunoni: search on Z-Library

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1

Identificação de Sinais Precoces de Autismo Segundo um Protocolo de Observação Estruturada: um Estudo de Seguimento

Alckmin-Carvalho, Felipe, Teixeira, Maria Cristina Triguero Veloz, Brunoni, Décio, Strauss, Vanessa Godoy, Paula, Cristiane Silvestre

Journal:

Year:

2014

File:

PDF, 384 KB

2014

2

Genética do autismo

Carvalheira, Gianna, Vergani, Naja, Brunoni, Décio

Journal:

Revista Brasileira de Psiquiatria

Year:

2004

File:

PDF, 52 KB

2004

3

Identifying Autism with a Brief and Low-Cost Screening Instrument—OERA: Construct Validity, Invariance Testing, and Agreement Between Judges

Paula, Cristiane S., Cunha, Graccielle Rodrigues, Bordini, Daniela, Brunoni, Decio, Moya, Ana Claudia, Bosa, Cleonice Alves, Mari, Jair J., Cogo-Moreira, Hugo

Journal:

Journal of Autism and Developmental Disorders

Year:

2017

Language:

english

File:

PDF, 990 KB

english, 2017

4

Genética do autismo

Carvalheira, Gianna, Vergani, Naja, Brunoni, Décio

Journal:

Revista Brasileira de Psiquiatria

Year:

2004

Language:

english

File:

PDF, 52 KB

english, 2004

5

Rastreamento de sinais e sintomas de transtornos do espectro do autismo em irmãos

Mecca, Tatiana Pontrelli, Bravo, Riviane Borghesi, Velloso, Renata de Lima, Schwartzman, José Salomão, Brunoni, Decio, Teixeira, Maria Cristina Triguero Veloz

Journal:

Revista de Psiquiatria do Rio Grande do Sul

Year:

2011

File:

PDF, 214 KB

2011

6

Relationship between polymorphisms in genes involved in homocysteine metabolism and maternal risk for Down syndrome in Brazil

Luciana Rodrigues Jacy da Silva, Naja Vergani, Luciano de Camargo Galdieri, Marianna Picarelli Ribeiro Porto, Silvia Bragagnolo Longhitano, Decio Brunoni, Vânia D'Almeida, Ana Beatriz Alvarez Perez

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 76 KB

english, 2005

7

Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses

Maria Rita Passos-Bueno, Andréa L. Sertié, Antonio Richieri-Costa, Luís G. Alonso, Mayana Zatz, Nivaldo Alonso, Décio Brunoni, Sandra F.M. Ribeiro

Journal:

American Journal of Medical Genetics Part A

Year:

1998

Language:

english

File:

PDF, 101 KB

english, 1998

8

Finlay–Marks (SEN) syndrome: A sporadic case and the delineation of the syndrome

Nara Lygia de Macena Sobreira, Décio Brunoni, Mirlene Cecília Soares Pinho Cernach, Ana Beatriz Alvarez Perez

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 111 KB

english, 2006

9

Complex toe syndactyly with characteristic facial phenotype: A new syndrome?

Nara Lygia Macena Sobreira, Mirlene Cecilia S.P. Cernach, Decio Brunoni, Ana Beatriz Alvarez Perez

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 420 KB

english, 2008

10

Evaluation of a Protocol for Postmortem Examination of Stillbirths and Neonatal Deaths with Congenital Anomalies

Mirlene C.S.P. Cernach, Francy R.S. Patrício, Marcial F. Galera, Antonio F. Moron, Decio Brunoni

Journal:

Pediatric and Developmental Pathology

Year:

2004

Language:

english

File:

PDF, 155 KB

english, 2004

11

Determining the frequency of morphological characteristics in a sample of Brazilian children

Perrone, Eduardo, Zanolla, Thais Arbocese, Fock, Rodrigo Ambrósio, Perez, Ana Beatriz Alvarez, Brunoni, Décio

Journal:

Jornal de Pediatria

Year:

2017

File:

PDF, 382 KB

2017

12

Fenótipo comportamental de crianças e adolescentes com síndrome de Prader-Willi

Mesquita, Maria Luiza G. de, Brunoni, Décio, Pina Neto, João Monteiro de, Kim, Chong Ae, Melo, Márcia Helena S., Teixeira, Maria Cristina T. V.

Journal:

Revista Paulista de Pediatria

Year:

2010

File:

PDF, 323 KB

2010

13

High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes

Alessandra Splendore, Elias O. Silva, Luís G. Alonso, Antônio Richieri-Costa, Nivaldo Alonso, Alberto Rosa, Gerson Carakushanky, Denise P. Cavalcanti, Décio Brunoni, Maria Rita Passos-Bueno

Journal:

Year:

2000

Language:

english

File:

PDF, 242 KB

english, 2000

14

Hydrocephaly, penoscrotal transposition, and digital anomalies associated with de novo pseudodicentric rearranged chromosome 13 characterized by classical cytogenetic methods and mBAND analysis

Denise Maria Christofolini, Maisa Yoshimoto, Jeremy A. Squire, Décio Brunoni, Maria Isabel Melaragno, Gianna Carvalheira

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 146 KB

english, 2006

15

Duplications Involving a Conserved Regulatory Element Downstream of BMP2 Are Associated with Brachydactyly Type A2

Katarina Dathe, Klaus W. Kjaer, Anja Brehm, Peter Meinecke, Peter Nürnberg, Jordao C. Neto, Decio Brunoni, Nils Tommerup, Claus E. Ott, Eva Klopocki, Petra Seemann, Stefan Mundlos

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 990 KB

english, 2009

16

Mandibulofacial dysostosis, acral anomalies and frontonasal dysplasia: a new form of acrofacial dysostosis

de Macena Sobreira, Nara Lygia, Alves, Maria Tereza S., Alvarez Perez, Ana Beatriz, Brunoni, Decio, Cernach, Mirlene C.S.P.

Journal:

Clinical Dysmorphology

Year:

2008

Language:

english

File:

PDF, 127 KB

english, 2008

17

Mismatch between diagnostic reports and special educational needs classification in a public educational system

Teixeira, Maria Cristina Triguero Veloz, Brunoni, Décio, Carreiro, Luiz Renato Rodrigues, Braga, Ana Claudia, Silva, Naiara Adorna da, Paula, Cristiane Silvestre

Journal:

Arquivos de Neuro-Psiquiatria

Year:

2017

Language:

english

File:

PDF, 111 KB

english, 2017

18

Methylenetetrahydrofolate reductase (MTHFR): incidence of mutations C677T and A1298C in Brazilian population and its correlation with plasma homocysteine levels in spina bifida

Ana Beatriz Alvarez Perez, Vânia D'Almeida, Naja Vergani, Allan C. de Oliveira, Fernanda Teresa de Lima, Decio Brunoni

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 73 KB

english, 2003

19

Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion

Guilherme, Roberta Santos, Soares, Karina Cunha, Simioni, Milena, Vieira, Tarsis Paiva, Gil-da-Silva-Lopes, Vera Lúcia, Kim, Chong Ae, Brunoni, Décio, Spinner, Nancy Bettina, Conlin, Laura Kathleen, C

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 163 KB

english, 2014

20

Novel mutations in the TBX5 gene in patients with Holt-Oram Syndrome

Porto, Marianna P.R., Vergani, Naja, Carvalho, Antonio Carlos C., Cernach, Mirlene C.S.P., Brunoni, Decio, Perez, Ana Beatriz A.

Journal:

Genetics and Molecular Biology

Year:

2010

Language:

english

File:

PDF, 125 KB

english, 2010

21

Multiple rhabdomyomas in monozygotic twins

Zamith, Marina Maccagnano, Brunoni, Décio, Ebaid, Munir

Journal:

Cardiology in the Young

Year:

1999

Language:

english

File:

PDF, 311 KB

english, 1999

22

Terminal deletion of chromosome 10q26 due to a paternal translocation {(7;10)(q36;q26)}

Dr. Cleide Largman Borovik, Decio Brunoni

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 234 KB

english, 1991

23

Genotype-phenotype correlation in Brazillian Rett syndrome patients.

Lima, Fernanda T De, Brunoni, Decio, Schwartzman, José Salomão, Pozzi, Maria Cristina, Kok, Fernando, Juliano, Yara, Pereira, Lygia Da Veiga

Journal:

Arquivos de Neuro-Psiquiatria

Year:

2009

File:

PDF, 443 KB

2009

24

Aconselhamento Genético

Brunoni, Décio

Journal:

Ciência & Saúde Coletiva

Year:

2002

File:

PDF, 162 KB

2002

25

Divorce in families of children with Down Syndrome or Rett Syndrome

Lederman, Vivian Renne Gerber, Alves, Bianca dos Santos, Negrão, Juliana, Schwartzman, José Salomão, D'Antino, Maria Eloisa Famá, Brunoni, Decio

Journal:

Ciência & Saúde Coletiva

Year:

2015

Language:

english

File:

PDF, 98 KB

english, 2015

26

Breakpoint mapping in a case of mosaicism with partial monosomy 9p23 → pter and partial trisomy 1q41 → qter suggests neo-telomere formation in stabilizing the deleted chromosome

Leslie D. Kulikowski, Laurie A. Christ, Sintia I. Nogueira, Decio Brunoni, Stuart Schwartz, Maria I. Melaragno

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 198 KB

english, 2006

27

Pure duplication 1q41-qter: Further delineation of trisomy 1q syndromes

Leslie Domenici Kulikowski, Fernanda T.S. Bellucco, Sintia I. Nogueira, Denise M. Christofolini, Marilia de A.C. Smith, Claudia B. de Mello, Decio Brunoni, Maria Isabel Melaragno

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 93 KB

english, 2008

28

Blomstrand chondrodysplasia: a lethal sclerosing skeletal dysplasia

Marcial Francis Galera, Francy Reis de Silva Patrício, Henrique Manoel Lederman, Carlos Guilherme Gaelzer Porciúncula, Isabella Lopes Monlleo, Decio Brunoni

Journal:

Pediatric Radiology

Year:

1999

Language:

english

File:

PDF, 375 KB

english, 1999

29

Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion

Migliavacca, Michele P., Sobreira, Nara L. M., Antonialli, Graziela P.M., Oliveira, Mariana M., Melaragno, Maria Isabel S.A., Casteels, Ingele, de Ravel, Thomy, Brunoni, Decio, Valle, David, Perez, An

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 474 KB

english, 2014

30

Chromosome abnormalities in selected newborn infants with malformations in Brazil

Cleide L. Borovik, Décio Brunoni, Aurea E. Sato, Horácio Barletta, Luci Dualibi-Casanova, Hideaki C. Hironaka, Leila R. Brunoni, Roger Brock, Laura A. Carvalho, Egle De Campos Costa

Journal:

American Journal of Medical Genetics Part A

Year:

1989

Language:

english

File:

PDF, 537 KB

english, 1989

31

Bilateral retinoblastoma associated with 13q− mosaicism: Possible manifestation of a germinal mutation

Maria Cecília Menks Ribeiro, Joyce Anderson Duffles Andrade, Clélia Maria Erwenne, Decio Brunoni

Journal:

Cancer Genetics and Cytogenetics

Year:

1988

Language:

english

File:

PDF, 354 KB

english, 1988

32

A utilização da Internet na notificação dos defeitos congênitos na Declaração de Nascido Vivo em quatro maternidades públicas do Município de São Paulo, Brasil

Nicola, Pablo Domingos Rodrigues de, Cernach, Mirlene Cecília Soares Pinho, Perez, Ana Beatriz Alvarez, Brunoni, Decio

Journal:

Cadernos de Saúde Pública

Year:

2010

File:

PDF, 86 KB

2010

33

Identification of 8 new mutations in Brazilian families with Marfan syndrome

Ana B.A. Perez, Lygia V. Pereira, Decio Brunoni, Mayana Zatz, Maria Rita Passos-Bueno

Journal:

Year:

1999

Language:

english

File:

PDF, 25 KB

english, 1999

34

Deletion of 17p13 and LIS1 Gene Mutation in Isolated Lissencephaly Sequence

Renata C. Elias, Marcial F. Galera, Beatriz Schnabel, Marcelo R.S. Briones, Maria L. Borri, Monica Lipay, Gianna Carvalheira, Decio Brunoni, Maria I. Melaragno

Journal:

Pediatric Neurology

Year:

2006

Language:

english

File:

PDF, 198 KB

english, 2006

35

Array CGH detection of a cryptic deletion in a complex chromosome rearrangement

Carla Rosenberg, Jeroen Knijnenburg, Maria de Lourdes Chauffaille, Decio Brunoni, Ana Lucia Catelani, Willem Sloos, Károly Szuhai, Hans J. Tanke

Journal:

Year:

2005

Language:

english

File:

PDF, 287 KB

english, 2005

36

Cytogenomic characterization of an unexpected 17.6 Mb 9p deletion associated to a 14.8 Mb 20p duplication in a dysmorphic patient with multiple congenital anomalies presenting a normal G-banding karyotype

Vera de Freitas Ayres Meloni, Flavia Balbo Piazzon, Maria de Fátima de Faria Soares, Sylvia Satomi Takeno, Denise Maria Christofolini, Leslie Domenici Kulikowski, Decio Brunoni, Maria Isabel Melaragno

Journal:

Year:

2012

Language:

english

File:

PDF, 325 KB

english, 2012

37

SHH Ile111Asp in alobar holoprosencephaly in a proposita, whose mother had only a solitary median maxillary incisor

Kenia Balbi EI-Jaick, Decio Brunoni, Eduardo E. Castilla, Miguel Angelo Moreira, Iêda Mario Orioli

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 33 KB

english, 2005

38

Pregnancy outcome after exposure to misoprostol in Brazil: a prospective, controlled study

Lavínia Schüler, Anne Pastuszak, Maria Teresa V. Sanseverino, Ieda Maria Orioliz, Decio Brunoni, Patricia Ashton–Prolla, Fabricio Silva da Costa, Roberto Giugliani, Aline Mallman Couto, Suzan Brancher

Journal:

Reproductive Toxicology

Year:

1999

Language:

english

File:

PDF, 54 KB

english, 1999

39

Determination of the sexual phenotype in a child with 45,X/46,X,Idic(Yp) mosaicism: Importance of the relative proportion of the 45,X line in gonadal tissue

Alexis D. Guedes, Bianca Bianco, Mônica V.N. Lipay, Décio Brunoni, Maria de Lourdes Chauffaille, Ieda T.N. Verreschi

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 137 KB

english, 2006

40

Procedures and compliance of a video modeling applied behavior analysis intervention for Brazilian parents of children with autism spectrum disorders

Bagaiolo, Leila F, Mari, Jair de J, Bordini, Daniela, Ribeiro, Tatiane C, Martone, Maria Carolina C, Caetano, Sheila C, Brunoni, Decio, Brentani, Helena, Paula, Cristiane S

Journal:

Year:

2017

Language:

english

File:

PDF, 376 KB

english, 2017

41

Determining the frequency of morphological characteristics in a sample of Brazilian children

Perrone, Eduardo, Zanolla, Thais Arbocese, Fock, Rodrigo Ambrosio, Perez, Ana Beatriz Alvarez, Brunoni, Decio

Journal:

Jornal de Pediatria (Versão em Português)

Year:

2017

File:

PDF, 455 KB

2017

42

Instrument to screen cases of pervasive developmental disorder: a preliminary indication of validity

Sato, Fábio Pinato, Paula, Cristiane Silvestre, Lowenthal, Rosane, Nakano, Eduardo Yoshio, Brunoni, Décio, Schwartzman, José Salomão, Mercadante, Marcos Tomanik

Journal:

Revista Brasileira de Psiquiatria

Year:

2009

File:

PDF, 224 KB

2009

43

Genetic hearing loss: a study of 228 Brazilian patients

Longhitano, Silvia Bragagnolo, Brunoni, Décio

Journal:

Genetics and Molecular Biology

Year:

2000

Language:

english

File:

PDF, 17 KB

english, 2000

44

Tibial aplasia-ectrodactyly as variant expression of the Gollop-Wolfgang complex: Report of a Brazilian family

A. Richieri-Costa, Decio Brunoni, José Laredo Filho, Silvana Kasinski, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 605 KB

english, 1987

45

Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome

Juliana Forte Mazzeu, Eliete Pardono, Angela M. Vianna-Morgante, Antônio Richieri-Costa, Chong Ae Kim, Décio Brunoni, Lúcia Martelli, Carlos Eugênio F. de Andrade, Guilherme Colin, Paulo A. Otto

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 95 KB

english, 2007

46

Medical Genetics Services in the City of São Paulo, Brazil

Journal:

Community Genetics

Year:

2004

Language:

english

File:

PDF, 95 KB

english, 2004

47

Microcefalia e outras manifestações relacionadas ao vírus Zika: impacto nas crianças, nas famílias e nas equipes de saúde

Brunoni, Decio, Blascovi-Assis, Silvana Maria, Osório, Ana Alexandra Caldas, Seabra, Alessandra Gotuzo, Amato, Cibelle Albuquerque de la Higuera, Teixeira, Maria Cristina Triguero Veloz, Rocha, Marina

Journal:

Ciência & Saúde Coletiva

Year:

2016

Language:

english

File:

PDF, 105 KB

english, 2016

48

Clinical checklists in the selection of mentally retarded males for molecular screening of fragile X syndrome

Christofolini, Denise M., Lipay, Monica V.N., Ramos, Marco Antonio P., Costa, Silvia S., Bellucco, Fernanda T.S., Nogueira, Sintia I., Kulikowski, Leslie D., Brunoni, Décio, Melaragno, Maria Isabel

Journal:

Genetics and Molecular Biology

Year:

2007

Language:

english

File:

PDF, 59 KB

english, 2007

49

Limb deficiency with or without Möbius sequence in seven Brazilian children associated with misoprostol use in the first trimester of pregnancy

Claudette Hajaj Gonzalez, Fernando R. Vargas, Ana Beatriz Alvarez Perez, Chong Ae Kim, Decio Brunoni, Maria Joaquina Marques-Dias, Clea R. Leone, JordãO Correa Neto, Juan C. Llerena Jr., José Carlos C

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 681 KB

english, 1993

50

Tetraploid/diploid mosaicism: case report and review of the literature

Luís Alonso, Isabel Melaragno, Adriana Bortolai, Silvia Takeno, Decio Brunoni

Journal:

Annales de Génétique

Year:

2002

Language:

english

File:

PDF, 127 KB

english, 2002

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