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1دورية أكاديمية
المؤلفون: Marilena Nakaguma, Fernanda A Correa, Lucas S Santana, Anna F F Benedetti, Ricardo V Perez, Martha K P Huayllas, Mirta B Miras, Mariana F A Funari, Antonio M Lerario, Berenice B Mendonca, Luciani R S Carvalho, Alexander A L Jorge, Ivo J P Arnhold
المصدر: Endocrine Connections, Vol 8, Iss 5, Pp 590-595 (2019)
مصطلحات موضوعية: congenital hypopituitarism, growth hormone deficiency, mutations, massively parallel sequencing, high-throughput nucleotide sequencing, target gene panel, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Monica M França, Mariana F A Funari, Antonio M Lerario, Mariza G Santos, Mirian Y Nishi, Sorahia Domenice, Daniela R Moraes, Everlayny F Costalonga, Gustavo A R Maciel, Andrea T Maciel-Guerra, Gil Guerra-Junior, Berenice B Mendonca
المصدر: PLoS ONE, Vol 15, Iss 10, p e0240795 (2020)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1932-6203
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3دورية أكاديمية
المؤلفون: Renata C. Scalco, Fernanda T. Gonçalves, Hadassa C. Santos, Mari M. S. G. Cardena, Carlos A. Tonelli, Mariana F. A. Funari, Rosana M. Aracava, Alexandre C. Pereira, Cintia Fridman, Alexander A. L. Jorge
المصدر: Genetics and Molecular Biology, Vol 40, Iss 2, Pp 436-441 (2017)
مصطلحات موضوعية: founder effect, growth hormone insensitivity, immune dysfunction, STAT5B, Genetics, QH426-470
وصف الملف: electronic resource
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المؤلفون: Gustavo F C Fagundes, Felipe Freitas-Castro, Lucas S Santana, Ana Caroline F Afonso, Janaina Petenuci, Mariana F A Funari, Augusto G Guimaraes, Felipe L Ledesma, Maria Adelaide A Pereira, Carolina R Victor, Marcela S M Ferrari, Fernando M A Coelho, Victor Srougi, Fabio Y Tanno, Jose L Chambo, Ana Claudia Latronico, Berenice B Mendonca, Maria Candida B V Fragoso, Ana O Hoff, Madson Q Almeida
المصدر: The Journal of Clinical Endocrinology & Metabolism.
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Biochemistry (medical), Clinical Biochemistry, Biochemistry
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a7796131bb679677e525e0f60a7d8a26
https://doi.org/10.1210/clinem/dgad028 -
5
المؤلفون: Naiara C B, Dantas, Mariana F A, Funari, Gabriela A, Vasques, Nathalia L M, Andrade, Raíssa C, Rezende, Vinicius, Brito, Renata C, Scalco, Ivo J P, Arnhold, Berenice B, Mendonca, Alexander A L, Jorge
المصدر: Hormone research in paediatrics. 95(3)
مصطلحات موضوعية: Adult, Gonadotropin-Releasing Hormone, Short Stature Homeobox Protein, Human Growth Hormone, Humans, Dwarfism, Haploinsufficiency, Child, Body Height, Retrospective Studies
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::22178de1ca960b8a75d58929d5ac7a78
https://pubmed.ncbi.nlm.nih.gov/35764066 -
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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
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7دورية أكاديمية
المؤلفون: Mariana F. A. Funari, João C. C. Guerra, Eurípides Ferreira, Jacyr Pasternak, Cleide L. Borovik, Ruth H. Kanayama, Sônia T. Nozawa, Cláudio E. A. Mendes, Ana C. M. Brito, Marcelo H. W. Faulhaber, Nydia S. Bacal
المصدر: Revista Brasileira de Hematologia e Hemoterapia, Vol 27, Iss 1, Pp 31-36 (2005)
مصطلحات موضوعية: Mieloma Múltiplo, citometria de fluxo, citogenética, doença residual, Multiple myeloma, flow cytometry, cytogenetics, minimal residual disease detection, Diseases of the blood and blood-forming organs, RC633-647.5
وصف الملف: electronic resource
Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842005000100009; https://doaj.org/toc/1516-8484; https://doaj.org/toc/1806-0870
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8
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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9
المؤلفون: Gabriela A Vasques, Mirian Yumie Nishi, Berenice B. Mendonca, Bruna L Freire, Lucas Santos de Santana, Alexander A. L. Jorge, Antonio M. Lerario, Juliana Sobral de Barros, Mariana F A Funari, Thais Kataoka Homma
المصدر: Clinical Genetics. 96:261-265
مصطلحات موضوعية: Male, 0301 basic medicine, DNA Copy Number Variations, Genotype, DNA Mutational Analysis, Computational biology, 030105 genetics & heredity, Biology, Short stature, DNA sequencing, 03 medical and health sciences, symbols.namesake, Short Stature Homeobox Protein, Gene duplication, Genetics, medicine, Humans, Genetic Predisposition to Disease, Multiplex ligation-dependent probe amplification, Copy-number variation, Genetic Association Studies, Genetics (clinical), Sanger sequencing, High-Throughput Nucleotide Sequencing, medicine.disease, Idiopathic short stature, Phenotype, 030104 developmental biology, Mutation, symbols, Female, medicine.symptom, Haploinsufficiency
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المؤلفون: Luciani R. Carvalho, Mariana F A Funari, Fernanda A. Correa, Marilena Nakaguma, Lucas Santos de Santana, Ivo J.P. Arnhold, Antonio M. Lerario, Ricardo V Perez, Martha K.P. Huayllas, Berenice B. Mendonca, Mirta Miras, Anna Flavia Figueredo Benedetti, Alexander A. L. Jorge
المصدر: Endocrine Connections, Vol 8, Iss 5, Pp 590-595 (2019)
Endocrine Connectionsمصطلحات موضوعية: growth hormone deficiency, Massive parallel sequencing, lcsh:RC648-665, business.industry, Genetic heterogeneity, target gene panel, Endocrinology, Diabetes and Metabolism, Genetic counseling, Research, massively parallel sequencing, Hypopituitarism, medicine.disease, Bioinformatics, mutations, lcsh:Diseases of the endocrine glands. Clinical endocrinology, Growth hormone deficiency, Endocrinology, GLI2, Internal Medicine, medicine, Clinical significance, high-throughput nucleotide sequencing, business, Gene, congenital hypopituitarism
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f369e7021748b915b027973a88fc6dad
https://ec.bioscientifica.com/view/journals/ec/8/5/EC-19-0085.xml