Rezultati - Maria Rita Passos‐Bueno

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  1. 1
    Síndrome de Treacher Collins: aspectos clínicos, genéticos e moleculares

    Síndrome de Treacher Collins: aspectos clínicos, genéticos e moleculares od Maria Rita Passos‐Bueno, Alessandra Splendore

    Izdano 2001
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  2. 2
    Reply to Lombardo, 2020: An additional route of investigation: what are the mechanisms controlling ribosomal protein genes dysregulation in autistic neuronal cells?

    Reply to Lombardo, 2020: An additional route of investigation: what are the mechanisms controlling ribosomal protein genes dysregulation in autistic neuronal cells? od Karina Griesi‐Oliveira, Maria Rita Passos‐Bueno

    Izdano 2020
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  3. 3
    Facioscapulohumeral muscular dystrophy: aspects of genetic counselling, acceptance of preclinical diagnosis, and fitness.

    Facioscapulohumeral muscular dystrophy: aspects of genetic counselling, acceptance of preclinical diagnosis, and fitness. od Sabine Eggers, Maria Rita Passos‐Bueno, Mayana Zatz

    Izdano 1993
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  4. 4
    Neuromuscular disorders: genes, genetic counseling and therapeutic trials

    Neuromuscular disorders: genes, genetic counseling and therapeutic trials od Mayana Zatz, Maria Rita Passos‐Bueno, Mariz Vainzof

    Izdano 2016
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  5. 5
    A new three allele polymorphism at distal 21q22.3, a region relatively devoid of polymorphic markers

    A new three allele polymorphism at distal 21q22.3, a region relatively devoid of polymorphic markers od Andréa L. Sertié, Christina Brahe, Maria Rita Passos‐Bueno

    Izdano 1999
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  6. 6
    A new three allele polymorphism at distal 21q22.3, a region relatively devoid of polymorphic markers

    A new three allele polymorphism at distal 21q22.3, a region relatively devoid of polymorphic markers od Andr�a L. Serti�, Christina Brahe, Maria Rita Passos‐Bueno

    Izdano 1999
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  7. 7
    Dystrophin genetic variants and autism

    Dystrophin genetic variants and autism od Maria Rita Passos‐Bueno, Claudia Ismania Samogy Costa, Mayana Zatz

    Izdano 2022
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  8. 8
    Molecular aspects of craniosynostoses: implications in diagnosis and genetic counseling

    Molecular aspects of craniosynostoses: implications in diagnosis and genetic counseling od Maria Rita Passos‐Bueno, Fernanda Sarquis Jehee, Lúcia Maria Libório Armelin

    Izdano 2001
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  9. 9
    Racial effect on serum creatine-kinase: Implications for estimation of heterozygosity risks for females at-risk for Duchenne dystrophy

    Racial effect on serum creatine-kinase: Implications for estimation of heterozygosity risks for females at-risk for Duchenne dystrophy od Maria Rita Passos‐Bueno, Eliete Rabbi‐Bortolini, Eliane Azevêdo, Mayana Zatz

    Izdano 1989
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  10. 10
    A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21

    A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21 od Alessandra Starling, Fernando Kok, Maria Rita Passos‐Bueno, Mariz Vainzof, Mayana Zatz

    Izdano 2004
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  11. 11
    06-P007 Different functional roles of FGF2 and FGF10 signaling in S252W FGFR2 cells: Impact in the Apert phenotype?

    06-P007 Different functional roles of FGF2 and FGF10 signaling in S252W FGFR2 cells: Impact in the Apert phenotype? od Erika Yeh, Daniele Yumi Sunaga, Roberto D. Fanganiello, Maria Rita Passos‐Bueno

    Izdano 2009
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  12. 12
    Parental origin of mutations in sporadic cases of Treacher Collins syndrome

    Parental origin of mutations in sporadic cases of Treacher Collins syndrome od Alessandra Splendore, Ethylin Wang Jabs, Têmis Maria Félix, Maria Rita Passos‐Bueno

    Izdano 2003
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  13. 13
    Association of schizophrenia and Duchenne muscular dystrophy

    Association of schizophrenia and Duchenne muscular dystrophy od Márcio Melo, Antônio Hélio Guerra Vieira, Maria Rita Passos‐Bueno, Mayana Zatz

    Izdano 1993
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  14. 14
    A new DNA marker, D6S129, identifies a<i>Hindlll polymorphism</i>On ChromoSome 6q

    A new DNA marker, D6S129, identifies a<i>Hindlll polymorphism</i>On ChromoSome 6q od Barbara C. Byth, Donald R. Love, Maria Rita Passos‐Bueno, K E Davies

    Izdano 1991
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  15. 15
    Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly.

    Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly. od Maria Rita Passos‐Bueno, A. Richieri‐Costa, Andréa L. Sertié, Alexander L.J. Kneppers

    Izdano 1998
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  16. 16
    Myotonic dystrophy: genetic, clinical, and molecular analysis of patients from 41 Brazilian families.

    Myotonic dystrophy: genetic, clinical, and molecular analysis of patients from 41 Brazilian families. od Maria Rita Passos‐Bueno, A Cerqueira, Mariz Vainzof, Suely Kazue Nagahashi Marie, Mayana Zatz

    Izdano 1995
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  17. 17
    A Brazilian family with hereditary inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia

    A Brazilian family with hereditary inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia od Roberto D. Fanganiello, Virginia Kimonis, C.C. Côrte, Ricardo Nitríni, Maria Rita Passos‐Bueno

    Izdano 2011
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  18. 18
    Genetics and Management of the Patient with Orofacial Cleft

    Genetics and Management of the Patient with Orofacial Cleft od Luciano Abreu Brito, Joanna Góes Castro Meira, Gerson Shigeru Kobayashi, Maria Rita Passos‐Bueno

    Izdano 2012
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  19. 19
    Further evidence of association between mutations in <i>FGFR2</i> and syndromic craniosynostosis with sacrococcygeal eversion

    Further evidence of association between mutations in <i>FGFR2</i> and syndromic craniosynostosis with sacrococcygeal eversion od Nélio Alessandro de Jesus Oliveira, Luís Garcia Alonso, Roberto D. Fanganiello, Maria Rita Passos‐Bueno

    Izdano 2006
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  20. 20
    Identification of 8 new mutations in Brazilian families with Marfan syndrome

    Identification of 8 new mutations in Brazilian families with Marfan syndrome od Ana Beatriz Alvarez Pérez, Lygia da Veiga Pereira, Décio Brunoni, Mayana Zatz, Maria Rita Passos-Bueno

    Izdano 1999
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