يعرض 1 - 10 نتائج من 17 نتيجة بحث عن '"Heloísa B. Pena"', وقت الاستعلام: 1.08s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Familial STAG2 germline mutation defines a new human cohesinopathy

    المؤلفون: Fernanda C. Soardi, Alice Machado-Silva, Natália D. Linhares, Ge Zheng, Qianhui Qu, Heloísa B. Pena, Thaís M. M. Martins, Helaine G. S. Vieira, Núbia B. Pereira, Raquel C. Melo-Minardi, Carolina C. Gomes, Ricardo S. Gomez, Dawidson A. Gomes, Douglas E. V. Pires, David B. Ascher, Hongtao Yu, Sérgio D. J. Pena

    المصدر: npj Genomic Medicine, Vol 2, Iss 1, Pp 1-11 (2017)

    مصطلحات موضوعية: Medicine, Genetics, QH426-470

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/2056-7944

    URL الوصول: https://doaj.org/article/3329248fd048435d97c88eef013b1831

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  2. 2
    دورية أكاديمية
    DNA polymorphism of schistosomes and their snail hosts

    المؤلفون: Andrew J. G. Simpson, Emmanuel Dias Neto, Teofania H. D. A. Vidigal, Heloísa B. Pena, Omar S. Carvalho, Sergio D. J. Pena

    المصدر: Memorias do Instituto Oswaldo Cruz, Vol 90, Iss 2, Pp 211-213 (1995)

    مصطلحات موضوعية: schistosomes, Biomphalaria glabrata, DNA, polymorphisms, PCR, Microbiology, QR1-502, Infectious and parasitic diseases, RC109-216

    وصف الملف: electronic resource

    Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0074-02761995000200014; https://doaj.org/toc/0074-0276; https://doaj.org/toc/1678-8060

    URL الوصول: https://doaj.org/article/9d3c4368cd544fac85b51a7c528549a1

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  3. 3
    Research Article Molecular karyotyping of 1,295 spontaneous consecutive abortions by sequential analysis with QF-PCR, HGQ-PCR and SNP-array

    المؤلفون: Cassiana S. de Sousa, Heloísa B. Pena, Juliane L.F. Rocha, Sérgio D.J. Pena

    المصدر: Genetics and Molecular Research. 21

    مصطلحات موضوعية: Genetics, General Medicine, Molecular Biology

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2597cef83ca6bafe314890fddf41222c
    https://doi.org/10.4238/gmr19082

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  4. 4
    Research Article MQS-PCR: a simple and quick multiplex PCR molecular method for human chromosomal sex determination in DNA samples

    المؤلفون: Juliane L.F. Rocha, Heloísa B. Pena, Sérgio D.J. Pena

    المصدر: Genetics and Molecular Research. 21

    مصطلحات موضوعية: Genetics, General Medicine, Molecular Biology

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::795f4d05ffeaa9b1dd00bdbdb7ca62e6
    https://doi.org/10.4238/gmr19067

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  5. 5
    Familial STAG2 germline mutation defines a new human cohesinopathy

    المؤلفون: Thaís Maria da Mata Martins, Alice Machado-Silva, Sérgio D.J. Pena, Raquel C. Melo-Minardi, Fernanda C. Soardi, Ge Zheng, Dawidson Assis Gomes, Helaine Graziele Santos Vieira, Carolina Cavaliéri Gomes, David B. Ascher, Heloísa B. Pena, Natália D. Linhares, Hongtao Yu, Qianhui Qu, Núbia Braga Pereira, Ricardo Santiago Gomez, Douglas E. V. Pires

    المصدر: npj Genomic Medicine, Vol 2, Iss 1, Pp 1-11 (2017)

    مصطلحات موضوعية: 0301 basic medicine, Genetics, Mutation, Cohesin, Mutant, QH426-470, Biology, Gene mutation, medicine.disease_cause, 3. Good health, Establishment of sister chromatid cohesion, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Germline mutation, medicine, Medicine, Molecular Biology, Gene, 030217 neurology & neurosurgery, Genetics (clinical), X chromosome

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::346539a2ac984a2876e436c9d784a8e3
    https://doi.org/10.1038/s41525-017-0009-4

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  6. 6
    Accurate, Fast and Cost-Effective Diagnostic Test for Monosomy 1p36 Using Real-Time Quantitative PCR

    المؤلفون: Lisa G. Shaffer, Heloísa B. Pena, Martin Stofanko, Higgor Gonçalves-Dornelas, Pricila da Silva Cunha, Sérgio Danilo Junho Pena, Célia Priszkulnik Koiffmann, Carla S. D'Angelo, Jill A. Rosenfeld

    المصدر: Disease Markers
    Disease Markers, Vol 2014 (2014)
    Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
    Universidade de São Paulo (USP)
    instacron:USP

    مصطلحات موضوعية: DOENÇAS GENÉTICAS, Genetic Markers, Male, Monosomy, Diagnostic methods, Article Subject, Microarray, Cost-Benefit Analysis, Clinical Biochemistry, Computational biology, Biology, Real-Time Polymerase Chain Reaction, Genetics, medicine, Humans, Multiplex, Multiplex ligation-dependent probe amplification, Molecular Biology, lcsh:R5-920, Biochemistry (medical), Diagnostic test, General Medicine, medicine.disease, Real-time polymerase chain reaction, Molecular Diagnostic Techniques, Chromosomes, Human, Pair 1, Female, Chromosome Deletion, lcsh:Medicine (General), Research Article, Comparative genomic hybridization

    وصف الملف: text/xhtml

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::443a20ea7ba730c7e47cf96c3c850a76
    https://doi.org/10.1155/2014/836082

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  7. 7
    Rapid and Inexpensive Screening of Genomic Copy Number Variations Using a Novel Quantitative Fluorescent PCR Method

    المؤلفون: Joan C. Han, Heloísa B. Pena, Sérgio Danilo Junho Pena, Martin Stofanko, Higgor Gonçalves-Dornelas, Sarah H. Elsea

    المصدر: Disease markers
    Disease Markers, Vol 35, Iss 6, Pp 589-594 (2013)

    مصطلحات موضوعية: Male, Article Subject, DNA Copy Number Variations, Clinical Biochemistry, Chromosome Disorders, Biology, Polymerase Chain Reaction, Public healthcare, law.invention, 03 medical and health sciences, 0302 clinical medicine, law, Genetics, medicine, Humans, Base sequence, Copy-number variation, Genetic Testing, Molecular Biology, Polymerase chain reaction, 030304 developmental biology, Genetic testing, DNA Primers, Chromosome Aberrations, lcsh:R5-920, 0303 health sciences, medicine.diagnostic_test, Base Sequence, Fluorescent pcr, Genome, Human, Biochemistry (medical), General Medicine, Dna amplification, 3. Good health, Molecular Diagnostic Techniques, ROC Curve, Case-Control Studies, Human genome, Female, lcsh:Medicine (General), 030217 neurology & neurosurgery, Research Article

    وصف الملف: text/xhtml

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d01e31e58e4a76608308c1afd142477
    http://europepmc.org/articles/PMC3830787

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  8. 8
    1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency

    المؤلفون: Heloísa B. Pena, Carlos A. Bacino, Sérgio D.J. Pena, Natália D. Linhares, Raony Guimaraes Corrêa Do Carmo Lisboa Cardenas, Bruno Delobel, Katherine Lachlan, Göran Annerén, Bruno Dallapiccola, Ann-Charlotte Thuresson, Paul A. James, Maíra C.M. Freire

    المصدر: Genetics and Molecular Biology, Volume: 39, Issue: 3, Pages: 349-357, Published: 04 AUG 2016
    Genetics and Molecular Biology, Vol 39, Iss 3, Pp 349-357
    Genetics and Molecular Biology v.39 n.3 2016
    Genetics and Molecular Biology
    Sociedade Brasileira de Genética (SBG)
    instacron:SBG

    مصطلحات موضوعية: 0301 basic medicine, Neuroblastoma RAS viral oncogene homolog, lcsh:QH426-470, Medicinska och farmaceutiska grundvetenskaper, Hemizygosity, MAP2K2, Biology, RASopathy, 03 medical and health sciences, Noonan syndrome type 6, Genetics, medicine, Molecular Biology, Exome sequencing, unmasking heterozygosity, 1p13.2 deletion, Basic Medicine, medicine.disease, NRAS gene, 3. Good health, PTPN11, lcsh:Genetics, 030104 developmental biology, Special Series of Articles - 60 Years of The Brazilian Society of Genetics, Noonan syndrome, Haploinsufficiency

    وصف الملف: text/html; application/pdf; text

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88430f0293e6bedcbe1f718487fd83d6
    http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000300349&lng=en&tlng=en

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  9. 9
    Familial

    المؤلفون: Fernanda C, Soardi, Alice, Machado-Silva, Natália D, Linhares, Ge, Zheng, Qianhui, Qu, Heloísa B, Pena, Thaís M M, Martins, Helaine G S, Vieira, Núbia B, Pereira, Raquel C, Melo-Minardi, Carolina C, Gomes, Ricardo S, Gomez, Dawidson A, Gomes, Douglas E V, Pires, David B, Ascher, Hongtao, Yu, Sérgio D J, Pena

    المصدر: NPJ Genomic Medicine

    مصطلحات موضوعية: biological phenomena, cell phenomena, and immunity, Article

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::4ecfb2661c504a9e51b815d2f1249d65
    https://pubmed.ncbi.nlm.nih.gov/29263825

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  10. 10
    'Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis (Linhares et al., 2014)' turns out to be EBV+ leiomyomatosis caused by CARMIL2 mutations

    المؤلفون: Magda Bahia, Raony Guimaraes Corrêa Do Carmo Lisboa Cardenas, Sérgio D.J. Pena, Natália D. Linhares, Maíra C.M. Freire, Heloísa B. Pena

    المصدر: European Journal of Medical Genetics. 61:106

    مصطلحات موضوعية: 0301 basic medicine, Genetics, Herpesvirus 4, Human, business.industry, Infantile myofibromatosis, Muscle Proteins, Myofibromatosis, Nerve Tissue Proteins, General Medicine, medicine.disease, 03 medical and health sciences, 030104 developmental biology, Leiomyomatosis, Mutation, Mutation (genetic algorithm), Humans, Medicine, Exome, business, Genetics (clinical), Exome sequencing

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb7e9fa9bd2581a440744e45ac0b535b
    https://doi.org/10.1016/j.ejmg.2017.02.002

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