Search Results - 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 by Denise Pagni, Maria Isabel Melaragno

    Published 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 by Adriana Di‐Battista, Mariana Moysés‐Oliveira, Maria Isabel Melaragno

    Published 2020
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  3. 3
    Mechanisms of structural chromosomal rearrangement formation

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

    Published 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 by Fernanda T. Bellucco, Cláudia Berlim de Mello, Vera Ayres Meloni, Maria Isabel Melaragno

    Published 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 by Kelin Chen, Malú Zamariolli, Maria de Fátima de Faria Soares, Vera Ayres Meloni, Maria Isabel Melaragno

    Published 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 by Síntia Belangero, Fernanda T. Bellucco, Mirlene Cecília Soares Pinho Cernach, April M. Hacker, Beverly S. Emanuel, Maria Isabel Melaragno

    Published 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 by Gianna Carvalheira, Mariana Moysés‐Oliveira, S.S. Takeno, Fernanda Teresa de Lima, Vera Ayres Meloni, Maria Isabel Melaragno

    Published 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 by Síntia Belangero, Fernanda T. Bellucco, Mirlene Cecília Soares Pinho Cernach, April M. Hacker, Beverly S. Emanuel, Maria Isabel Melaragno

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

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

    Published 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 by Vera Ayres Meloni, S.S. Takeno, Ana Luiza Pilla, Cláudia Berlim de Mello, Maria Isabel Melaragno, Leslie Domenici Kulikowski

    Published 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 by Marga Nadal, C. G. VIGO, Maria Isabel Melaragno, Joyce Andrade, Luís Garcia Alonso, Décio Brunoni, Melanie Pritchard, Xavier Estivill

    Published 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 by Síntia Belangero, Fernanda T.S. Bellucco, Leslie Domenici Kulikowski, Denise Maria Christofolini, Mirlene Cecília Soares Pinho Cernach, Maria Isabel Melaragno

    Published 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 by Roberta Santos Guilherme, Vera de FA Meloni, S.S. Takeno, Renata Pellegrino, Décio Brunoni, Leslie Domenici Kulikowski, Maria Isabel Melaragno

    Published 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. by Síntia Belangero, Fernanda T.S. Bellucco, Leslie Domenici Kulikowski, Denise Maria Christofolini, Mirlene Cecília Soares Pinho Cernach, Maria Isabel Melaragno

    Published 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 by Caroline Olivati, Bianca Pereira Favilla, Erika Lopes Freitas, Bibiana Alves dos Santos, Maria Isabel Melaragno, Vera Ayres Meloni, Flávia Piazzon

    Published 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 by Anelisa Gollo Dantas, Beatriz C. Nunes, Natália Nunes, Pedro A. F. Galante, Paula Fontes Asprino, Vanessa Kiyomi Ota, Maria Isabel Melaragno

    Published 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 by Denise Maria Christofolini, Fernando Santos Pinheiro, Bianca Bianco, Maria Isabel Melaragno, Marco A. Ramos, Décio Brunoni, Flavio Geraldes Alves, Caio Parente Barbosa

    Published 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 by T.I. Mancini, Mariana Moysés‐Oliveira, A.R.N. Dutra, Ana Beatriz Alvarez Pérez, Renata Moldenhauer Minillo, S.S. Takeno, Maria Isabel Melaragno

    Published 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 by Fernanda T. Bellucco, Hélio R. de Oliveira-Júnior, Roberta Santos Guilherme, Silvia Bragagnolo, Ana Beatriz Alvarez Pérez, Vera Ayres Meloni, Maria Isabel Melaragno

    Published 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 by Denise Maria Christofolini, Guilherme Pinn, Thainá Vilella, Maria Isabel Melaragno, Mariana Moysés‐Oliveira, Luciano de Melo Pompei, Bianca Bianco, Caio Parente Barbosa

    Published 2025
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