檢索結果 - Maria Isabel Melaragno

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  1. 1
    Cytogenetic study of women with premature ovarian failure

    Cytogenetic study of women with premature ovarian failure 由 Denise Pagni, Maria Isabel Melaragno

    出版 1998
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  2. 2
    Genetics of premature ovarian insufficiency and the association with X-autosome translocations

    Genetics of premature ovarian insufficiency and the association with X-autosome translocations 由 Adriana Di‐Battista, Mariana Moysés‐Oliveira, Maria Isabel Melaragno

    出版 2020
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  3. 3
    Mechanisms of structural chromosomal rearrangement formation

    Mechanisms of structural chromosomal rearrangement formation 由 Bruna Burssed, Malú Zamariolli, Fernanda T. Bellucco, Maria Isabel Melaragno

    出版 2022
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  4. 4
    Malan syndrome in a patient with 19p13.2p13.12 deletion encompassing <i>NFIX</i> and <i>CACNA1A</i> genes: Case report and review of the literature

    Malan syndrome in a patient with 19p13.2p13.12 deletion encompassing <i>NFIX</i> and <i>CACNA1A</i> genes: Case report and review of the literature 由 Fernanda T. Bellucco, Cláudia Berlim de Mello, Vera Ayres Meloni, Maria Isabel Melaragno

    出版 2019
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  5. 5
    Multicentric Carpotarsal Osteolysis Syndrome in a Mother and Daughter with a &lt;b&gt;&lt;i&gt;MAFB&lt;/i&gt;&lt;/b&gt; Missense Variant and Natural History of the Disease

    Multicentric Carpotarsal Osteolysis Syndrome in a Mother and Daughter with a &lt;b&gt;&lt;i&gt;MAFB&lt;/i&gt;&lt;/b&gt; Missense Variant and Natural History of the Disease 由 Kelin Chen, Malú Zamariolli, Maria de Fátima de Faria Soares, Vera Ayres Meloni, Maria Isabel Melaragno

    出版 2021
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  6. 6
    Interrupção do arco aórtico tipo B em uma paciente com síndrome de olho de gato

    Interrupção do arco aórtico tipo B em uma paciente com síndrome de olho de gato 由 Síntia Belangero, Fernanda T. Bellucco, Mirlene Cecília Soares Pinho Cernach, April M. Hacker, Beverly S. Emanuel, Maria Isabel Melaragno

    出版 2009
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  7. 7
    19q13.33→qter trisomy in a girl with intellectual impairment and seizures

    19q13.33→qter trisomy in a girl with intellectual impairment and seizures 由 Gianna Carvalheira, Mariana Moysés‐Oliveira, S.S. Takeno, Fernanda Teresa de Lima, Vera Ayres Meloni, Maria Isabel Melaragno

    出版 2014
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  8. 8
    Interrupção do arco aórtico tipo B em uma paciente com síndrome de olho de gato

    Interrupção do arco aórtico tipo B em uma paciente com síndrome de olho de gato 由 Síntia Belangero, Fernanda T. Bellucco, Mirlene Cecília Soares Pinho Cernach, April M. Hacker, Beverly S. Emanuel, Maria Isabel Melaragno

    出版 2009
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  9. 9
    Cytogenomic characterization of karyotypes with additional autosomal material

    Cytogenomic characterization of karyotypes with additional autosomal material 由 Priscila Soares Rodrigues, Bruna Burssed, Fernanda T. Bellucco, Débora Cristina Batista Rosolen, Chong Ae Kim, Maria Isabel Melaragno

    出版 2025
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  10. 10
    Trisomy 1q32 and monosomy 11q25 associated with congenital heart defect: cytogenomic delineation and patient fourteen years follow-up

    Trisomy 1q32 and monosomy 11q25 associated with congenital heart defect: cytogenomic delineation and patient fourteen years follow-up 由 Vera Ayres Meloni, S.S. Takeno, Ana Luiza Pilla, Cláudia Berlim de Mello, Maria Isabel Melaragno, Leslie Domenici Kulikowski

    出版 2014
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  11. 11
    Clinical and cytogenetic characterisation of a patient with Down syndrome resulting from a 21q22.1->qter duplication

    Clinical and cytogenetic characterisation of a patient with Down syndrome resulting from a 21q22.1->qter duplication 由 Marga Nadal, C. G. VIGO, Maria Isabel Melaragno, Joyce Andrade, Luís Garcia Alonso, Décio Brunoni, Melanie Pritchard, Xavier Estivill

    出版 2001
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  12. 12
    Deleção 22q11.2 em pacientes com defeito cardíaco conotruncal e fenótipo da síndrome da deleção 22q11.2

    Deleção 22q11.2 em pacientes com defeito cardíaco conotruncal e fenótipo da síndrome da deleção 22q11.2 由 Síntia Belangero, Fernanda T.S. Bellucco, Leslie Domenici Kulikowski, Denise Maria Christofolini, Mirlene Cecília Soares Pinho Cernach, Maria Isabel Melaragno

    出版 2009
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  13. 13
    Twenty-year cytogenetic and molecular follow-up of a patient with ring chromosome 15: a case report

    Twenty-year cytogenetic and molecular follow-up of a patient with ring chromosome 15: a case report 由 Roberta Santos Guilherme, Vera de FA Meloni, S.S. Takeno, Renata Pellegrino, Décio Brunoni, Leslie Domenici Kulikowski, Maria Isabel Melaragno

    出版 2012
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  14. 14
    22q11.2 deletion in patients with conotruncal heart defect and del22q syndrome phenotype.

    22q11.2 deletion in patients with conotruncal heart defect and del22q syndrome phenotype. 由 Síntia Belangero, Fernanda T.S. Bellucco, Leslie Domenici Kulikowski, Denise Maria Christofolini, Mirlene Cecília Soares Pinho Cernach, Maria Isabel Melaragno

    出版 2009
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  15. 15
    Allan-Herndon-Dudley syndrome in a female patient and related mechanisms

    Allan-Herndon-Dudley syndrome in a female patient and related mechanisms 由 Caroline Olivati, Bianca Pereira Favilla, Erika Lopes Freitas, Bibiana Alves dos Santos, Maria Isabel Melaragno, Vera Ayres Meloni, Flávia Piazzon

    出版 2022
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  16. 16
    Next-generation sequencing profiling of miRNAs in individuals with 22q11.2 deletion syndrome revealed altered expression of miR-185-5p

    Next-generation sequencing profiling of miRNAs in individuals with 22q11.2 deletion syndrome revealed altered expression of miR-185-5p 由 Anelisa Gollo Dantas, Beatriz C. Nunes, Natália Nunes, Pedro A. F. Galante, Paula Fontes Asprino, Vanessa Kiyomi Ota, Maria Isabel Melaragno

    出版 2024
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  17. 17
    Síndrome de tremor e ataxia associada ao X frágil: rastreamento por PCR em amostra de idosos

    Síndrome de tremor e ataxia associada ao X frágil: rastreamento por PCR em amostra de idosos 由 Denise Maria Christofolini, Fernando Santos Pinheiro, Bianca Bianco, Maria Isabel Melaragno, Marco A. Ramos, Décio Brunoni, Flavio Geraldes Alves, Caio Parente Barbosa

    出版 2009
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  18. 18
    Interstitial 4q Deletion and Isodicentric Y-Chromosome in a Patient with Dysmorphic Features

    Interstitial 4q Deletion and Isodicentric Y-Chromosome in a Patient with Dysmorphic Features 由 T.I. Mancini, Mariana Moysés‐Oliveira, A.R.N. Dutra, Ana Beatriz Alvarez Pérez, Renata Moldenhauer Minillo, S.S. Takeno, Maria Isabel Melaragno

    出版 2012
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  19. 19
    Deletion of Chromosome 13 due to Different Rearrangements and Impact on Phenotype

    Deletion of Chromosome 13 due to Different Rearrangements and Impact on Phenotype 由 Fernanda T. Bellucco, Hélio R. de Oliveira-Júnior, Roberta Santos Guilherme, Silvia Bragagnolo, Ana Beatriz Alvarez Pérez, Vera Ayres Meloni, Maria Isabel Melaragno

    出版 2019
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  20. 20
    Compound Heterozygous Variants in <scp><i>ZSWIM7</i></scp> Gene Linked to Infertility and Its Role in Gonadal Development

    Compound Heterozygous Variants in <scp><i>ZSWIM7</i></scp> Gene Linked to Infertility and Its Role in Gonadal Development 由 Denise Maria Christofolini, Guilherme Pinn, Thainá Vilella, Maria Isabel Melaragno, Mariana Moysés‐Oliveira, Luciano de Melo Pompei, Bianca Bianco, Caio Parente Barbosa

    出版 2025
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