Passos-Bueno,: search on Z-Library

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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

Year:

2009

Language:

english

File:

PDF, 238 KB

english, 2009

2

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:

Year:

2000

Language:

english

File:

PDF, 805 KB

english, 2000

3

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

Year:

2020

File:

PDF, 4.42 MB

2020

4

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:

Year:

2020

File:

PDF, 792 KB

2020

5

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

Year:

1997

Language:

english

File:

PDF, 785 KB

english, 1997

6

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

Year:

2014

Language:

english

File:

PDF, 756 KB

english, 2014

7

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

Year:

2020

File:

PDF, 256 KB

2020

8

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:

Year:

2005

Language:

english

File:

PDF, 864 KB

english, 2005

9

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

Year:

2010

Language:

english

File:

PDF, 9.53 MB

english, 2010

10

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

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

Year:

2018

Language:

english

File:

PDF, 1002 KB

english, 2018

12

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:

Year:

2005

Language:

english

File:

PDF, 540 KB

english, 2005

13

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

Year:

2015

Language:

english

File:

PDF, 340 KB

english, 2015

14

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

Year:

2014

Language:

english

File:

PDF, 232 KB

english, 2014

15

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

Year:

1999

File:

PDF, 17 KB

1999

16

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:

Year:

1999

Language:

english

File:

PDF, 16 KB

english, 1999

17

Parental origin of mutations in sporadic cases of Treacher Collins syndrome

Splendore, Alessandra, Jabs, Ethylin Wang, Félix, Têmis Maria, Passos-Bueno, Maria Rita

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 109 KB

english, 2003

18

Effects of antipsychotics with different weight gain liabilities on human in vitro models of adipose tissue differentiation and metabolism

Andréa L. Sertié, Angela May Suzuki, Rogério A.L. Sertié, Sandra Andreotti, Fábio B. Lima, Maria Rita Passos-Bueno, Wagner F. Gattaz

Journal:

Progress in Neuro-Psychopharmacology and Biological Psychiatry

Year:

2011

Language:

english

File:

PDF, 1003 KB

english, 2011

19

No evidence of genetic heterogeneity in Brazilian facioscapulohumeral muscular dystrophy familes (FSHD) with 4q markers

Passos-Bueno, M.Rita, Wijmenga, Cisca, Takata, Reinaldo E., Marie, Sueli K.N., Vainzof, Mariz, Pavanello, Rita C., Hewitt, Jane E., Bakker, Egbert, Carvalho, Alzira, Akiyama, Jane, Frants, Rune R., Za

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 644 KB

english, 1993

20

CTG repeat length in muscle from patients affected with myotonic dystrophy (DM)

Zatz, M, Passos-Bueno, M R, Cerqueira, A, Vainzof, M

Journal:

Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 390 KB

english, 1996

21

Challenges in the Orthodontic Treatment of a Patient With Pycnodysostosis

Ortegosa, Márcio Vieira, Bertola, Débora Romeo, Aguena, Meire, Passos-Bueno, Maria Rita, Kim, Chong Ae, de Faria, Maria Estela Justamante

Journal:

The Cleft Palate-Craniofacial Journal

Year:

2014

Language:

english

File:

PDF, 246 KB

english, 2014

22

The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype

Bertola, Débora, Yamamoto, Guilherme, Buscarilli, Michelle, Jorge, Alexander, Passos-Bueno, Maria Rita, Kim, Chong

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 188 KB

english, 2017

23

Association of schizophrenia and Duchenne muscular dystrophy

Melo, M., Vieira, A. H., Passos-Bueno, M. R., Zaty, M.

Journal:

The British Journal of Psychiatry

Year:

1993

Language:

english

File:

PDF, 535 KB

english, 1993

24

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

Year:

1998

Language:

english

File:

PDF, 118 KB

english, 1998

25

Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion

Maria Leine Guion-Almeida, Antonio Richieri-Costa, Fernanda Sarquis Jehee, Maria Rita Santos Passos-Bueno, Roseli Maria Zechi-Ceide

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 134 KB

english, 2012

26

Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: Identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis

Roseli Maria Zechi-Ceide, Nélio Alessando Jesus Oliveira, Maria Leine Guion-Almeida, Luís Fernando B.B. Antunes, Antonio Richieri-Costa, Maria Rita Santos Passos-Bueno

Journal:

European Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 264 KB

english, 2008

27

Genetic study by Multiplex Ligation-dependent Probe Amplification (MLPA) in synaptic genes in autism spectrum disorders

Bossolani-Martins, A.L., Pereira-Nascimento, P., Moreira, D.P., Giunco, C.T., Passos-Bueno, M.R., Fett-Conte, A.C.

Journal:

Neuropsychiatrie de l'Enfance et de l'Adolescence

Year:

2012

Language:

english

File:

PDF, 63 KB

english, 2012

28

Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studies

Clouthier, David E., Passos-Bueno, Maria Rita, Tavares, Andre L.P., Lyonnet, Stanislas, Amiel, Jeanne, Gordon, Christopher T.

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2013

Language:

english

File:

PDF, 909 KB

english, 2013

29

New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome

de Alencastro, G, McCloskey, D E, Kliemann, S E, Maranduba, C M C, Pegg, A E, Wang, X, Bertola, D R, Schwartz, C E, Passos-Bueno, M R, Sertie, A L

Journal:

Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 429 KB

english, 2008

30

Deletion of the Basement Membrane Heparan Sulfate Proteoglycan Type XVIII Collagen Causes Hypertriglyceridemia in Mice and Humans

Bishop, Joseph R., Passos-Bueno, Maria Rita, Fong, Loren, Stanford, Kristin I., Gonzales, Jon C., Yeh, Erika, Young, Stephen G., Bensadoun, Andre, Witztum, Joseph L., Esko, Jeffrey D., Moulton, Karen

Journal:

Year:

2010

Language:

english

File:

PDF, 1.72 MB

english, 2010

31

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

Year:

1999

Language:

english

File:

PDF, 70 KB

english, 1999

32

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

Year:

1991

Language:

english

File:

PDF, 402 KB

english, 1991

33

Molecular Analysis in Brazilian Cystic Fibrosis Patients Reveals Five Novel Mutations

Bernardino, A. L. F., Ferri, A., Passos-Bueno, M. R., Kim, C. E. A., Nakaie, C. M. A., Gomes, C. E. T., Damaceno, N., Zatz, M.

Journal:

Genetic Testing

Year:

2000

Language:

english

File:

PDF, 263 KB

english, 2000

34

Screening of deletions in the dystrophin gene with the cDNA probes Cf23a, Cf56a, and Cf115.

Passos-Bueno, M R, Rapaport, D, Love, D, Flint, T, Bortolini, E R, Zatz, M, Davies, K E

Journal:

Journal of Medical Genetics

Year:

1990

Language:

english

File:

PDF, 1.06 MB

english, 1990

35

Estimate of germinal mosaicism in Duchenne muscular dystrophy.

Passos-Bueno, M R, Lima, M A, Zatz, M

Journal:

Journal of Medical Genetics

Year:

1990

Language:

english

File:

PDF, 365 KB

english, 1990

36

Improvement of In Vitro Osteogenic Potential through Differentiation of Induced Pluripotent Stem Cells from Human Exfoliated Dental Tissue towards Mesenchymal-Like Stem Cells

Ishiy, Felipe Augusto Andre, Fanganiello, Roberto Dalto, Griesi-Oliveira, Karina, Suzuki, Angela May, Kobayashi, Gerson Shigeru, Morales, Andressa Gois, Capelo, Luciane Portas, Passos-Bueno, Maria Rit

Journal:

Stem Cells International

Year:

2015

Language:

english

File:

PDF, 4.33 MB

english, 2015

37

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

38

TCOF1 mutation database: Novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature

Alessandra Splendore, Roberto D. Fanganiello, Cibele Masotti, Lucas S.C. Morganti, M. Rita Passos-Bueno

Journal:

Year:

2005

Language:

english

File:

PDF, 152 KB

english, 2005

39

Maternal MTHFR interacts with the offspring's BCL3 genotypes, but not with TGFA, in increasing risk to nonsyndromic cleft lip with or without cleft palate

Gaspar, Dinamar A, Matioli, Sergio R, Pavanello, Rita de Cássia, Araújo, Belmino C, Alonso, Nivaldo, Wyszynski, Diego, Passos-Bueno, Maria Rita

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 96 KB

english, 2004

40

643 Familial spongiform encephalopathy with distinct clinico-pathological features associated with a novel mutation of the prion protein gene

R. Nitrini, S. Rosemberg, M.R. Passos-Bueno, P. Iughetti, M. Papadopoulos, L.S. Teixeira-Silva, P.M. Carrilho, P. Caramelli, S. Albrecht, M. Zatz, A.C. LeBlanc

Journal:

Neurobiology of Aging

Year:

1996

Language:

english

File:

PDF, 132 KB

english, 1996

41

Is dystrophin always altered in Becker muscular dystrophy patients?

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

Journal:

Journal of the Neurological Sciences

Year:

1995

Language:

english

File:

PDF, 731 KB

english, 1995

42

Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome

Schaefer, Elise, Collet, Corinne, Genevieve, David, Vincent, Marie, Lohmann, Dietmar R., Sanchez, Elodie, Bolender, Chantal, Eliot, Marie-Madeleine, Nürnberg, Gudrun, Passos-Bueno, Maria-Rita, Wieczor

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 727 KB

english, 2014

43

Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

Yamamoto, Guilherme L., Baratela, Wagner A.R., Almeida, Tatiana F., Lazar, Monize, Afonso, Clara L., Oyamada, Maria K., Suzuki, Lisa, Oliveira, Luiz A.N., Ramos, Ester S., Kim, Chong A., Passos-Bueno,

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.16 MB

english, 2014

44

A new DNA marker, D6S129, identifies a Hindlll polymorphism On ChromoSome 6q

Byth, B.C., Love, D.R., Passos-Bueno, M.R., Davies, K.E.

Journal:

Nucleic Acids Research

Year:

1991

Language:

english

File:

PDF, 1.14 MB

english, 1991

45

Deficiency of α-Actinin-3 (ACTN3) Occurs in Different Forms of Muscular Dystrophy

Vainzof, M., Costa, C., Marie, S., Moreira, E., Reed, U., Passos-Bueno, M., Beggs, A., Zatz, M.

Journal:

Neuropediatrics

Year:

1997

Language:

english

File:

PDF, 1.23 MB

english, 1997

46

Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: Insights into genotype-phenotype correlation

Bertola, Debora, Passos-Bueno, Maria Rita, Pereira, Alexandre, Kim, Chong, Morgan, Tim, Robertson, Stephen P.

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 1.15 MB

english, 2015

47

Richieri-Costa-Pereira syndrome: expanding its phenotypic and genotypic spectrum

Bertola, D.R., Hsia, G., Alvizi, L., Gardham, A., Wakeling, E., Yamamoto, G.L., Honjo, R.S., Oliveira, L.A.N., Di Francesco, R.C., Perez, B.A., Kim, C.A., Passos-Bueno, M.R.

Journal:

Clinical Genetics

Year:

2017

Language:

english

File:

PDF, 1.05 MB

english, 2017

48

An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome

Fernanda Sarquis Jehee, Carla Rosenberg, Ana Cristina Krepischi-Santos, Fernando Kok, Jeroen Knijnenburg, Guy Froyen, Angela M. Vianna-Morgante, John M. Opitz, Maria Rita Passos-Bueno

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 275 KB

english, 2005

49

A rigorous approach to facilitate and guarantee the correctness of the genetic testing management in human genome information systems

Luciano V Araújo, Simon Malkowski, Kelly R Braghetto, Maria R Passos-Bueno, Mayana Zatz, Calton Pu, João E Ferreira

Journal:

Year:

2011

Language:

english

File:

PDF, 260 KB

english, 2011

50

Dysferlin protein analysis in limb-girdle muscular dystrophies

Mariz Vainzof, Louise V. B. Anderson, Elizabeth M. McNally, Dawn B. Davis, Georgine Faulkner, Giorgio Valle, Eloisa S. Moreira, Rita C. M. Pavanello, Maria Rita Passos-Bueno, Mayana Zatz

Journal:

Journal of Molecular Neuroscience

Year:

2001

Language:

english

File:

PDF, 272 KB

english, 2001

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