يعرض 1 - 10 نتائج من 22 نتيجة بحث عن '"Amanda de Moraes Narcizo"', وقت الاستعلام: 1.38s تنقيح النتائج
  1. 1
    دورية أكاديمية
    SELAdb: A database of exonic variants in a Brazilian population referred to a quaternary medical center in São Paulo

    المؤلفون: Antonio Marcondes Lerario, Dipika R. Mohan, Luciana Ribeiro Montenegro, Mariana Ferreira de Assis Funari, Mirian Yumie Nishi, Amanda de Moraes Narcizo, Anna Flavia Figueredo Benedetti, Sueli Mieko Oba-Shinjo, Aurélio José Vitorino, Rogério Alexandre Scripnic Xavier dos Santos, Alexander Augusto de Lima Jorge, Luiz Fernando Onuchic, Suely Kazue Nagahashi Marie, Berenice Bilharinho Mendonca

    المصدر: Clinics, Vol 75 (2020)

    مصطلحات موضوعية: Next Generation Sequencing, Database, Mendelian Disorders, Brazil, Population Genetics, Medicine (General), R5-920

    وصف الملف: electronic resource

    Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1807-59322020000100260&tlng=en; http://www.scielo.br/pdf/clin/v75/1807-5932-clin-75-e1913.pdf; https://doaj.org/toc/1980-5322

    URL الوصول: https://doaj.org/article/a3a74911a39240788ce158a7327501af

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  2. 2
    دورية أكاديمية
    Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum

    المؤلفون: Marilena Nakaguma, Nathalia Garcia Bianchi Pereira Ferreira, Anna Flavia Figueredo Benedetti, Mariana Cotarelli Madi, Juliana Moreira Silva, Jun Z. Li, Qianyi Ma, Ayse Bilge Ozel, Qing Fang, Amanda de Moraes Narcizo, Laís Cavalca Cardoso, Luciana Ribeiro Montenegro, Mariana Ferreira de Assis Funari, Mirian Yumie Nishi, Ivo Jorge Prado Arnhold, Alexander Augusto de Lima Jorge, Berenice Bilharinho de Mendonca, Sally Ann Camper, Luciani R. Carvalho

    المصدر: Genes, Vol 12, Iss 8, p 1128 (2021)

    مصطلحات موضوعية: GH1, SOX3, TGIF1, hypopituitarism, allelic variants, Genetics, QH426-470

    وصف الملف: electronic resource

    Relation: https://www.mdpi.com/2073-4425/12/8/1128; https://doaj.org/toc/2073-4425

    URL الوصول: https://doaj.org/article/d8ff6882d7414dcfa0681cf8c0025a8a

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  3. 3
    دورية أكاديمية
    High Prevalence of Alterations in DNA Mismatch Repair Genes of Lynch Syndrome in Pediatric Patients with Adrenocortical Tumors Carrying a Germline Mutation on TP53

    المؤلفون: Vania Balderrama Brondani, Luciana Montenegro, Amanda Meneses Ferreira Lacombe, Breno Marchiori Magalhães, Mirian Yumie Nishi, Mariana Ferreira de Assis Funari, Amanda de Moraes Narcizo, Lais Cavalca Cardoso, Sheila Aparecida Coelho Siqueira, Maria Claudia Nogueira Zerbini, Francisco Tibor Denes, Ana Claudia Latronico, Berenice Bilharinho Mendonca, Madson Queiroz Almeida, Antonio Marcondes Lerario, Ibere Cauduro Soares, Maria Candida Barisson Villares Fragoso

    المصدر: Cancers, Vol 12, Iss 3, p 621 (2020)

    مصطلحات موضوعية: adrenal tumor, dna mismatch repair, tp53, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

    وصف الملف: electronic resource

    Relation: https://www.mdpi.com/2072-6694/12/3/621; https://doaj.org/toc/2072-6694

    URL الوصول: https://doaj.org/article/c27555ee83184097a43573bec107c48c

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  4. 4
    Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development

    المؤلفون: Nathalia Lisboa Gomes, Rafael Loch Batista, Mirian Y Nishi, Antônio Marcondes Lerário, Thatiana E Silva, Amanda de Moraes Narcizo, Anna Flávia Figueredo Benedetti, Mariana Ferreira de Assis Funari, José Antônio Faria Junior, Daniela Rodrigues Moraes, Lia Mesquita Lousada Quintão, Luciana Ribeiro Montenegro, Maria Teresa Martins Ferrari, Alexander A Jorge, Ivo J P Arnhold, Elaine Maria Frade Costa, Sorahia Domenice, Berenice Bilharinho Mendonca

    المصدر: The Journal of clinical endocrinology and metabolism. 107(5)

    مصطلحات موضوعية: Male, Disorder of Sex Development, 46,XY, Endocrinology, Diabetes and Metabolism, Sexual Development, Biochemistry (medical), Clinical Biochemistry, High-Throughput Nucleotide Sequencing, Gonadal Dysgenesis, Biochemistry, Cohort Studies, Endocrinology, Mutation, Humans, Female, Child

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47f3fa3672563f496f4634f939d0bc8c
    https://pubmed.ncbi.nlm.nih.gov/35254448

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  5. 5
    Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum

    المؤلفون: Juliana Moreira Silva, Amanda de Moraes Narcizo, Anna Flavia Figueredo Benedetti, Alexander A. L. Jorge, Luciani R. Carvalho, Nathalia Garcia Bianchi Pereira Ferreira, Ivo J.P. Arnhold, Qing Fang, Mariana Cotarelli Madi, Mirian Yumie Nishi, Berenice B. Mendonca, Marilena Nakaguma, Ayse Bilge Ozel, Luciana Ribeiro Montenegro, Lais Cavalca Cardoso, Mariana F A Funari, Sally A. Camper, Jun Li, Qianyi Ma

    المصدر: Genes
    Volume 12
    Issue 8
    Genes, Vol 12, Iss 1128, p 1128 (2021)

    مصطلحات موضوعية: 0301 basic medicine, Male, Genotype, 030209 endocrinology & metabolism, Hypopituitarism, Biology, QH426-470, Article, 03 medical and health sciences, 0302 clinical medicine, Holoprosencephaly, Anterior pituitary, medicine, Genetics, TGIF1, Missense mutation, Humans, Allele, Child, Genetics (clinical), Alleles, Homeodomain Proteins, GH1, Human Growth Hormone, SOXB1 Transcription Factors, Infant, Aplasia, medicine.disease, Penetrance, Magnetic Resonance Imaging, Pedigree, Repressor Proteins, 030104 developmental biology, medicine.anatomical_structure, Phenotype, allelic variants, hypopituitarism, Child, Preschool, Mutation, IGHD, SOX3, Female

    وصف الملف: application/pdf

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d878751145231698c34a43ca273f98f0

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  6. 6
    Allelic Variants in Established Hypopituitarism Genes Expands Our Knowledge of Phenotypic Spectrum

    المؤلفون: Qianyi Ma, Sally A. Camper, Lais Cavalca Cardoso, Mirian Yumie Nishi, Alexander A. L. Jorge, Ivo J.P. Arnhold, Luciani R. Carvalho, Amanda de Moraes Narcizo, A. Blige Ozel, Berenice B. Mendonca, Qing Fang, Mariana Cotarelli Madi, Nathalia Garcia Bianchi Pereira Ferreira, Juliana Moreira Silva, Luciana Ribeiro Montenegro, Marilena Nakaguma, Mariana F A Funari, Anna Flavia Figueredo Benedetti, Jun Li

    مصطلحات موضوعية: Genetics, allergology, medicine, Hypopituitarism, Allele, Biology, medicine.disease, Phenotype, Gene

    وصف الملف: application/pdf

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f641a78b3a2cdb23782768da47966b86

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  7. 7
    Variants in 46,XY DSD-Related Genes in Syndromic and Non-Syndromic Small for Gestational Age Children with Hypospadias

    المؤلفون: Barbara Leitao Braga, Antonio M. Lerario, Berenice B. Mendonca, Mirian Yumie Nishi, Gil Guerra-Júnior, Bruna L Freire, Nathalia Lisboa Gomes, Sorahia Domenice, Lais Cavalca Cardoso, Anna Flavia Figueredo Benedetti, Rafael Loch Batista, Mariana F A Funari, Jose Antonio Diniz Faria Junior, Alexander A. L. Jorge, Amanda de Moraes Narcizo, Elaine Maria Frade Costa

    المصدر: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation. 16(1)

    مصطلحات موضوعية: Mulibrey nanism, Male, Embryology, Pediatrics, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Ubiquitin-Protein Ligases, Gestational Age, Biology, Compound heterozygosity, Tripartite Motif Proteins, medicine, Humans, Multiplex ligation-dependent probe amplification, Exome sequencing, Hypospadias, Massive parallel sequencing, Disorder of Sex Development, 46,XY, Infant, Newborn, DNA Methylation, medicine.disease, Infant, Small for Gestational Age, Small for gestational age, Developmental Biology, Congenital disorder

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f22ab606d9ddf1a440b5bcd18b90e7d
    https://pubmed.ncbi.nlm.nih.gov/34518484

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  8. 8
    SELAdb: A database of exonic variants in a Brazilian population referred to a quaternary medical center in São Paulo

    المؤلفون: Amanda de Moraes Narcizo, Anna Flavia Figueredo Benedetti, Suely Kazue Nagahashi Marie, Dipika R. Mohan, Sueli Mieko Oba-Shinjo, Mirian Yumie Nishi, Aurélio José Vitorino, Alexander A. L. Jorge, Luciana Ribeiro Montenegro, Antonio M. Lerario, Rogério Alexandre Scripnic Xavier dos Santos, Berenice B. Mendonca, Luiz F. Onuchic, Mariana F A Funari

    المصدر: Clinics, Vol 75 (2020)
    Clinics; v. 75 (2020); e1913
    Clinics; Vol. 75 (2020); e1913
    Clinics
    Universidade de São Paulo (USP)
    instacron:USP
    Clinics, Volume: 75, Article number: e1913, Published: 10 AUG 2020

    مصطلحات موضوعية: Medicine (General), Population, MEDLINE, Population genetics, Next Generation Sequencing, Genomics, 030204 cardiovascular system & hematology, Biology, computer.software_genre, Genome, DNA sequencing, Cohort Studies, Database, 03 medical and health sciences, 0302 clinical medicine, R5-920, Databases, Genetic, Humans, 030212 general & internal medicine, education, Exome sequencing, education.field_of_study, High-Throughput Nucleotide Sequencing, General Medicine, Molecular diagnostics, Mendelian Disorders, Original Article, computer, Brazil, Population Genetics

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

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::450eea586cc68c8c4b73711296893fcd
    http://www.scielo.br/pdf/clin/v75/1807-5932-clin-75-e1913.pdf

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  9. 9
    SUN-710 Custom Panel to Diagnosis Genetic Endocrine Disorders in a Tertiary Academic Hospital

    المؤلفون: Berenice B. Mendonca, Mirian Yumie Nishi, Anna Flavia Figueredo Benedetti, Monica M. França, Luciana Ribeiro Montenegro, Lais Cavalca Cardoso, Amanda de Moraes Narcizo, Alexander A. L. Jorge, Barbara Leitao Braga, Mariana F A Funari

    المصدر: Journal of the Endocrine Society

    مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, medicine, Genetics and Development and Non-Steroid Hormone Signaling I, Endocrine system, business, AcademicSubjects/MED00250, Genetics and Development (including Gene Regulation)

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6aece17b8c53b4a3046c38d48068412c
    https://doi.org/10.1210/jendso/bvaa046.1802

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  10. 10
    SAT-155 High Prevalence Alterations on DNA Mismatch Repair Genes Related to Lynch Syndrome in Pediatric Patients with Adrenocortical Tumor Carried of the Germline Mutation on TP53

    المؤلفون: Berenice B. Mendonca, Maria Claudia Nogueira Zerbini, Laís de Almeida Cardoso, Vânia Balderrama Brondani, Mariana F A Funari, Antonio M. Lerario, Amanda de Moraes Narcizo, Iberê C. Soares, Candida Vilares, Madson Q. Almeida, Luciana Ribeiro Montenegro, Ana Claudia Latronico, Francisco V. Dénes, Mirian Yumie Nishi, Amanda Meneses Ferreira Lacombe

    المصدر: Journal of the Endocrine Society

    مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, High prevalence, business.industry, Endocrinology, Diabetes and Metabolism, Adrenocortical Tumor, nutritional and metabolic diseases, medicine.disease, digestive system diseases, Lynch syndrome, Germline mutation, Adrenal - Tumors, Cancer research, Medicine, DNA mismatch repair, Adrenal, business, neoplasms, Gene, AcademicSubjects/MED00250

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d48c20c7e636a28b903e06896d2b97c
    https://doi.org/10.1210/jendso/bvaa046.1688

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