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1

Syndromes of the first and second pharyngeal arches: A review

Maria Rita Passos-Bueno, Camila C. Ornelas, Roberto D. Fanganiello

Journal:

American Journal of Medical Genetics Part A

Année:

2009

Langue:

english

Fichier:

PDF, 238 KB

english, 2009

2

Pfeiffer mutation in an apert patient: How wide is the spectrum of variability due to mutations in the FGFR2 gene?

Passos-Bueno, Maria Rita, Sertié, Andréa L., Zatz, Mayana, Richieri-Costa, Antonio

Journal:

American Journal of Medical Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 785 KB

english, 1997

3

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

Année:

1998

Langue:

english

Fichier:

PDF, 101 KB

english, 1998

4

Partial α-sarcoglycan deficiency with retention of the dystrophin-glycoprotein complex in a LGMD2D family

Mariz Vainzof, Eloisa S. Moreira, Marta Canovas, Louise V.B. Anderson, Rita C.M. Pavanello, Maria Rita Passos-Bueno, Mayana Zatz

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 805 KB

english, 2000

5

A functional SNP in the promoter region of TCOF1 is associated with reduced gene expression and YY1 DNA–protein interaction

Cibele Masotti, Lucia M. Armelin-Correa, Alessandra Splendore, Chin J. Lin, Angela Barbosa, Mari C. Sogayar, Maria Rita Passos-Bueno

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 540 KB

english, 2005

6

Characterization of human Collagen XVIII promoter 2: Interaction of Sp1, Sp3 and YY1 with the regulatory region and a SNP that increases transcription in hepatocytes

Lucia M. Armelin-Correa, Chin J. Lin, Angela Barbosa, Kelly Bagatini, Sheila M.B. Winnischofer, Mari C. Sogayar, Maria Rita Passos-Bueno

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 864 KB

english, 2005

7

Mesenchymal Stem Cells Derived From Canine Umbilical Cord Vein—A Novel Source for Cell Therapy Studies

Zucconi, Eder, Vieira, Natassia M., Bueno, Daniela F., Secco, Mariane, Jazedje, Tatiana, Ambrosio, Carlos E., Passos-Bueno, Maria Rita, Miglino, Maria Angelica, Zatz, Mayana

Journal:

Stem Cells and Development

Année:

2010

Langue:

english

Fichier:

PDF, 9.53 MB

english, 2010

8

Further evidence of the importance of RIT1 in Noonan syndrome

Bertola, Débora R., Yamamoto, Guilherme L., Almeida, Tatiana F., Buscarilli, Michelle, Jorge, Alexander A. L., Malaquias, Alexsandra C., Kim, Chong A., Takahashi, Vanessa N. V., Passos-Bueno, Maria Ri

Journal:

American Journal of Medical Genetics Part A

Année:

2014

Langue:

english

Fichier:

PDF, 232 KB

english, 2014

9

Genetics and genomics in Brazil: a promising future

Passos-Bueno, Maria Rita, Bertola, Debora, Horovitz, Dafne Dain Gandelman, de Faria Ferraz, Victor Evangelista, Brito, Luciano Abreu

Journal:

Molecular Genetics & Genomic Medicine

Année:

2014

Langue:

english

Fichier:

PDF, 756 KB

english, 2014

10

Altered mTORC1 signaling in multipotent stem cells from nearly 25% of patients with nonsyndromic autism spectrum disorders

Suzuki, A M, Griesi-Oliveira, K, de Oliveira Freitas Machado, C, Vadasz, E, Zachi, E C, Passos-Bueno, M R, Sertie, A L

Journal:

Molecular Psychiatry

Année:

2015

Langue:

english

Fichier:

PDF, 340 KB

english, 2015

11

Zebrafish sp7 mutants show tooth cycling independent of attachment, eruption and poor differentiation of teeth

Kague, E., Witten, P.E., Soenens, M., Campos, CL., Lubiana, T., Fisher, S., Hammond, C., Brown, K. Robson, Passos-Bueno, MR., Huysseune, A.

Journal:

Developmental Biology

Année:

2018

Langue:

english

Fichier:

PDF, 1002 KB

english, 2018

12

Reply to Lombardo, 2020: An additional route of investigation: what are the mechanisms controlling ribosomal protein genes dysregulation in autistic neuronal cells?

Griesi-Oliveira, Karina, Passos-Bueno, Maria Rita

Journal:

Molecular Psychiatry

Année:

2020

Fichier:

PDF, 256 KB

2020

13

Germline variants of Brazilian women with breast cancer and detection of a novel pathogenic ATM deletion in early-onset breast cancer

Bandeira, Gabriel, Rocha, Katia, Lazar, Monize, Ezquina, Suzana, Yamamoto, Guilherme, Varela, Monica, Takahashi, Vanessa, Aguena, Meire, Gollop, Thomaz, Zatz, Mayana, Passos-Bueno, Maria Rita, Krepisc

Journal:

Année:

2020

Fichier:

PDF, 792 KB

2020

14

Recapitulation of Neural Crest Specification and EMT via Induction from Neural Plate Border-like Cells

Kobayashi, Gerson Shigeru, Musso, Camila Manso, Moreira, Danielle de Paula, Pontillo-GuimarÃ£es, Giovanna, Hsia, Gabriella Shih Ping, Caires-JÃºnior, Luiz Carlos, Goulart, Ernesto, Passos-Bueno, Maria

Journal:

Stem Cell Reports

Année:

2020

Fichier:

PDF, 4.42 MB

2020

15

The use of apolipoprotein E genotype for preclinical detection of risk's group for Alzheimer's disease

Oliveira, J.R. Mendes, Filho, J.L. Lima, Shimokomaki, C.M., Okuma, M., Passos-Bueno, M.R., Zatz, M., Brito-Marques, P.R.

Journal:

American Journal of Medical Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 78 KB

english, 1997

16

Sweat electrolyte and cystic fibrosis mutation analysis allows early diagnosis in Brazilian children with clinical signs compatible with cystic fibrosis

Rabbi-Bortolini, Eliete, Bernardino, Andr�a L.F., Lopes, Adoris L., Ferri, Adriana da S., Passos-Bueno, Maria R., Zatz, Mayana

Journal:

American Journal of Medical Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 24 KB

english, 1998

17

The facioscapulohumeral muscular dystrophy (FSHD1) gene affects males more severely and more frequently than females

Zatz, Mayana, Marie, Suely K., Cerqueira, Antonia, Vainzof, Mariz, Pavanello, Rita C.M., Passos-Bueno, Maria Rita

Journal:

American Journal of Medical Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 118 KB

english, 1998

18

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

de Oliveira, Jo�o R. Mendes, Otto, Paulo A., Vallada, Homero, Lauriano, Val�ria, Elkis, Helio, Lafer, Beny, Vasquez, Luciana, Gentil, Valentim, Passos-Bueno, M. Rita, Zatz, Mayana

Journal:

American Journal of Medical Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 51 KB

english, 1998

19

Paternal inheritance or different mutations in maternally related patients occur in about 3% of Duchenne familial cases

Zatz, Mayana, Sumita, Denilce, Campiotto, Simone, Canovas, Marta, Cerqueira, Antonia, Vainzof, Mariz, Passos-Bueno, Maria Rita

Journal:

American Journal of Medical Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 107 KB

english, 1998

20

Absence of correlation between skewed X inactivation in blood and serum creatine-kinase levels in Duchenne/Becker female carriers

Sumita, Denilce R., Vainzof, Mariz, Campiotto, Simone, Cerqueira, Antonia M., C�novas, Marta, Otto, Paulo A., Passos-Bueno, Maria Rita, Zatz, Mayana

Journal:

American Journal of Medical Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 91 KB

english, 1998

21

Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G

Passos-Bueno, Maria Rita, Vainzof, Mariz, Moreira, Eloisa S., Zatz, Mayana

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 79 KB

english, 1999

22

Genetic counseling for childless women at risk for Duchenne muscular dystrophy

Eggers, Sabine, Pavanello, Rita C.M., Passos-Bueno, Maria Rita, Zatz, Mayana

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 70 KB

english, 1999

23

Role of the C677T polymorphism at theMTHFR gene on risk to nonsyndromic cleft lip with/without cleft palate: Results from a case-control study in Brazil

Gaspar, D. A., Pavanello, R. C., Zatz, M., Passos-Bueno, M. R., Andr�, M., Steman, S., Wyszynski, D. F., Matiolli, S. R.

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 51 KB

english, 1999

24

Erratum: Golden WL, Sudduth KW, Burnett SH, Kelly TH. Mosaicism in Praeder-Willi syndrome: detection using fluorescent in situ hybridization. Am J Med Genet 85:424-425

Gaspar, D. A., Pavanello, R. C., Zatz, M., Passos-Bueno, M. R., Andr�, M., Steman, S., Wyszynski, D. F., Matiolli, S. R.

Journal:

American Journal of Medical Genetics

Année:

1999

Fichier:

PDF, 17 KB

1999

25

Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: Analysis of muscle beta 1 syntrophin

P. Rocco, M. Vainzof, S.C. Froehner, M.F. Peters, S.K.N. Marie, M.R. Passos-Bueno, M. Zatz

Journal:

American Journal of Medical Genetics Part A

Année:

2000

Langue:

english

Fichier:

PDF, 486 KB

english, 2000

26

Novel point mutations in the dystrophin gene

Roberta Sitnik, Simone Campiotto, Mariz Vainzof, Rita C. Pavanello, Reinaldo I. Takata, Mayana Zatz, Maria Rita Passos-Bueno

Journal:

Année:

1997

Langue:

english

Fichier:

PDF, 131 KB

english, 1997

27

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:

Année:

1999

Langue:

english

Fichier:

PDF, 25 KB

english, 1999

28

A new three allele polymorphism at distal 21q22.3, a region relatively devoid of polymorphic markers

Andréa L. Sertié, Christina Brahe, M. Rita Passos-Bueno

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 16 KB

english, 1999

29

Clinical spectrum of fibroblast growth factor receptor mutations

M.R. Passos-Bueno, W.R. Wilcox, E.W. Jabs, A.L. Sertié, L.G. Alonso, H. Kitoh

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 287 KB

english, 1999

30

Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia

Paula Iughetti, Luis Garcia Alonso, William Wilcox, Nivaldo Alonso, Maria Rita Passos-Bueno

Journal:

American Journal of Medical Genetics Part A

Année:

2000

Langue:

english

Fichier:

PDF, 532 KB

english, 2000

31

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:

Année:

2000

Langue:

english

Fichier:

PDF, 242 KB

english, 2000

32

TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders

Alessandra Splendore, Maria Rita Passos-Bueno, Ethylin Wang Jabs, Lionel Van Maldergem, Eric A. Wulfsberg

Journal:

American Journal of Medical Genetics Part A

Année:

2002

Langue:

english

Fichier:

PDF, 45 KB

english, 2002

33

Craniosynostosis associated with ocular and distal limb defects is very likely caused by mutations in a gene different from FGFR, TWIST, and MSX2

Maria Rita Passos-Bueno, Lucia Maria Armelin, Luís Garcia Alonso, Isaac Neustein, Andréa L. Sertié, Kikue Abe, Rita de Cássia Pavanello, Lívia C. Elkis, Célia P. Koiffmann

Journal:

American Journal of Medical Genetics Part A

Année:

2002

Langue:

english

Fichier:

PDF, 255 KB

english, 2002

34

Estimate of the proportion of Duchenne muscular dystrophy with autosomal recessive inheritance

Mayana Zatz, Maria Rita Passos-Bueno, Debora Rapaport

Journal:

American Journal of Medical Genetics Part A

Année:

1989

Langue:

english

Fichier:

PDF, 361 KB

english, 1989

35

Hypothesis: The existence of embryonic and adult isoforms of mRNA dystrophin provides an explanation for unusual clinical findings

Mayana Zatz, Maria Rita Passos-Bueno, Mariz Vainzof, Rita C. M. Pavanello

Journal:

American Journal of Medical Genetics Part A

Année:

1989

Langue:

english

Fichier:

PDF, 288 KB

english, 1989

36

Duchenne-like muscular dystrophy in the Arabs

Mayana Zatz, Maria Rita Passos-Bueno, Debora Rapaport

Journal:

American Journal of Medical Genetics Part A

Année:

1990

Langue:

english

Fichier:

PDF, 73 KB

english, 1990

37

Familial occurrence of Duchenne dystrophy through paternal lines in four families

Mayana Zatz, Maria Rita Passos-Bueno, Debora Rapaport, Mariz Vainzof

Journal:

American Journal of Medical Genetics Part A

Année:

1991

Langue:

english

Fichier:

PDF, 497 KB

english, 1991

38

Linkage analysis in families with autosomal recessive limb-girdle muscular dystrophy (LGMD) and 6q probes flanking the dystrophin-related sequence

Maria Rita Passos-Bueno, Joseph Terwilliger, Jürg Ott, Mariz Vainzof, Donald R. Love, Kay E. Davies, Mayana Zatz

Journal:

American Journal of Medical Genetics Part A

Année:

1991

Langue:

english

Fichier:

PDF, 488 KB

english, 1991

39

Screening of male patients with autosomal recessive Duchenne dystrophy through dystrophin and DNA studies

Mariz Vainzof, Rita C. M. Pavanello, Ivo Pavanello-Filho, Debora Rapaport, Maria Rita Passos-Bueno, Elizabeth E. Zubrzycka-Gaarn, Dennis E. Bulman, Mayana Zatz

Journal:

American Journal of Medical Genetics Part A

Année:

1991

Langue:

english

Fichier:

PDF, 402 KB

english, 1991

40

Apparent association of mental retardation and specific patterns of deletions screened with probes cf56a and cf23a in Duchenne muscular dystrophy

Debora Rapaport, Maria Rita Passos-Bueno, Lydia Brandão, Donald Love, Mariz Vainzof, Mayana Zatz

Journal:

American Journal of Medical Genetics Part A

Année:

1991

Langue:

english

Fichier:

PDF, 555 KB

english, 1991

41

Reply to Drs. Hunter, ten Kate, and van Essen

M.D. Mayana Zatz, Maria Rita Passos-Bueno, Mariz Vainzof

Journal:

American Journal of Medical Genetics Part A

Année:

1992

Langue:

english

Fichier:

PDF, 111 KB

english, 1992

42

Additional dystrophin fragment in Becker muscular dystrophy patients: Correlation with the pattern of DNA deletion

Mariz Vainzof, Maria Rita Passos-Bueno, Debora Rapaport, Rita C. M. Pavanello, Mayana Zatz, Dennis E. Bulman

Journal:

American Journal of Medical Genetics Part A

Année:

1992

Langue:

english

Fichier:

PDF, 296 KB

english, 1992

43

Severe nonspecific X-linked mental retardation caused by a proximally Xp located gene: Intragenic heterogeneity or a new form of X-linked mental retardation?

Maria Rita Passos-Bueno, Barbara C. Byth, Sergio Rosenberg, Reinaldo I. Takata, Egbert Bakker, Alan H. Beggs, Rita C. Pavanello, Mariz Vainzof, Kay E. Davies, Mayana Zatz

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 455 KB

english, 1993

44

Transposon-like element in the dystrophin gene

Dr. Mayana Zatz, Maria Rita Passos-Bueno, Mariz Vainzof

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 80 KB

english, 1993

45

Knobloch syndrome in a large Brazilian consanguineous family: Confirmation of autosomal recessive inheritance

M. Rita Passos-Bueno, Suely K. Marie, Mario Monteiro, Isaac Neustein, Martin R. Whittle, Mariz Vainzof, Mayana Zatz

Journal:

American Journal of Medical Genetics Part A

Année:

1994

Langue:

english

Fichier:

PDF, 382 KB

english, 1994

46

Absence of correlation between utrophin localization and quantity and the clinical severity in Duchenne/Becker dystrophies

Dr. Mariz Vainzof, Maria Rita Passos-Bueno, Nguyen Thi Man, Mayana Zatz

Journal:

American Journal of Medical Genetics Part A

Année:

1995

Langue:

english

Fichier:

PDF, 552 KB

english, 1995

47

Becker and limb-girdle muscular dystrophies: A psychiatric and intellectual level comparative study

Marcio Melo, Valèria Lauriano, Valentim Gentil, Sabine Eggers, Sidionira Santos Del Bianco, Paulo Rogério Gimenez, Jeanne Akiyama, Helena Okabaiashi, Oswaldo Frota-Pessoa, Maria Rita Passos-Bueno, May

Journal:

American Journal of Medical Genetics Part A

Année:

1995

Langue:

english

Fichier:

PDF, 592 KB

english, 1995

48

Why is the reproductive performance lower in Becker (BMD) as compared to limb girdle (LGMD) muscular dystrophy male patients?

Sabine Eggers, Valèria Lauriano, Marcio Melo, Reinaldo Issao Takata, Jeanne Akiyama, Maria Rita Passos-Bueno, Valentim Gentil, Oswaldo Frota-Pessoa, Mayana Zatz

Journal:

American Journal of Medical Genetics Part A

Année:

1995

Langue:

english

Fichier:

PDF, 610 KB

english, 1995

49

Evidence of neuronal migration disorders in Knobloch syndrome: Clinical and molecular analysis of two novel families

Susana E. Kliemann, Ricardo T.L. Waetge, Oscar T. Suzuki, M. Rita Passos-Bueno, Sérgio Rosemberg

Journal:

American Journal of Medical Genetics Part A

Année:

2003

Langue:

english

Fichier:

PDF, 171 KB

english, 2003

50

Does the P172H mutation at the TM4SF2 gene cause X-linked mental retardation?

Carlos Magno da Costa Maranduba, Eloísa Sá Moreira, Guilherme Müller Orabona, Rita Cássia Pavanello, Angela M. Vianna-Morgante, Maria Rita Passos-Bueno

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 89 KB

english, 2004