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1دورية أكاديمية
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
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2دورية أكاديمية
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
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المؤلفون: Helena Panteliou Lima-Valassi, Luciana Ribeiro Montenegro, Berenice B. Mendonca, Madson Q. Almeida, Maria Candida Barisson Villares Fragoso, Chin Jia Lin, Antonio M. Lerario
المصدر: Hormone and Metabolic Research. 53:124-131
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Carcinogenesis, Cell Survival, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Protein Prenylation, Mevalonic Acid, medicine.disease_cause, Biochemistry, Young Adult, chemistry.chemical_compound, Endocrinology, Cell Line, Tumor, Internal medicine, medicine, Humans, Viability assay, Aged, Cholesterol, Cell growth, Cholesterol side-chain cleavage enzyme, Biochemistry (medical), Infant, General Medicine, Middle Aged, Adrenal Cortex Neoplasms, Neoplasm Proteins, Gene Expression Regulation, Neoplastic, stomatognathic diseases, chemistry, CYP17A1, Child, Preschool, HSD3B1, Cancer research, Female, Steroids, lipids (amino acids, peptides, and proteins), Mevalonate pathway, Metabolic Networks and Pathways
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50f0b3a12230c0fc3e5ff0f93f5a33e7
https://doi.org/10.1055/a-1322-2943 -
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المؤلفون: Raquel Corripio, José I Labarta, Lourdes Travieso-Suárez, Ana Pinheiro Machado Canton, Leandro Soriano-Guillén, Jesús Argente, Maira Piovesan, Vinicius Nahime Brito, Ana Claudia Latronico, Carlos Eduardo Seraphim, Vicente Barrios, Luciana Ribeiro Montenegro, Álvaro Martín-Rivada
المصدر: The Journal of Clinical Endocrinology & Metabolism. 105:3165-3172
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Ubiquitin-Protein Ligases, Endocrinology, Diabetes and Metabolism, media_common.quotation_subject, DNA Mutational Analysis, Clinical Biochemistry, Central precocious puberty, Puberty, Precocious, Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Loss of Function Mutation, Internal medicine, medicine, Humans, Precocious puberty, Girl, Allele, Child, Gene, media_common, 030219 obstetrics & reproductive medicine, business.industry, Calcium-Binding Proteins, Biochemistry (medical), Membrane Proteins, medicine.disease, 030104 developmental biology, DLK1, Cohort, Female, RNA Splice Sites, business, Brazil, Metabolic profile
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3286cda854614a29034c45fec623de2f
https://doi.org/10.1210/clinem/dgaa461 -
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المؤلفون: Thijs van der Wal, Yujin Hoshida, Luciana Ribeiro Montenegro, Vera Kim, M. Y. Nishi, Suzane Kioko Ono, Flair José Carrilho
المصدر: Pharmacogenomics
مصطلحات موضوعية: Adult, Male, Single-nucleotide polymorphism, Polymorphism, Single Nucleotide, Cohort Studies, Genotype, Genetics, Humans, Pharmacokinetics, Genetic variability, Exome, Aged, ADME, Pharmacology, biology, Membrane Transport Proteins, Middle Aged, Minor allele frequency, Pharmaceutical Preparations, Pharmacogenetics, Pharmacogenomics, biology.protein, Molecular Medicine, Female, SLCO1B1, Brazil, Research Article
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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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المؤلفون: M. Gryngarten, Seraphim Ce, Ortiz-Cabrera Nv, Macedo Db, Ana Paula Abreu, Cunha M, A. C. Latronico, Piovesan Mr, Travieso-Suarez L, Carolina Ramos, V. N. Brito, Soriano-Guillen L, Argente J, de Castro Leal A, Labarta Ji, Antonini, Ursula B. Kaiser, Luciana Ribeiro Montenegro, B. B. Mendonca, Arcari Aj, Escribano Munoz A, Canton Apm, Corripio R, Guimaraes A, Gagliardi Pc, Benedetti Aff
المصدر: Yearbook of Paediatric Endocrinology.
مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, Internal medicine, Central precocious puberty, medicine, Biology, Genotype-Phenotype Correlations
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9ebf1d44790211748c6d3368e2fffd5f
https://doi.org/10.1530/ey.18.7.2 -
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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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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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المؤلفون: Ana Claudia Latronico, Gustavo Arantes Rosa Maciel, Luciana Ribeiro Montenegro, Berenice B. Mendonca, Ana Pinheiro Machado Canton, Larissa G. Gomes, Edmund Chada Baracat, Melissa Lees, Alexander A. L. Jorge, Vinicius Nahime Brito, Raiane P Crespo, Carolina Ramos, Marina Cunha-Silva, Delanie B. Macedo, Andrew Dauber, Helen Spoudeas, Danielle S Bessa
المصدر: The Journal of Clinical Endocrinology & Metabolism. 104:2112-2120
مصطلحات موضوعية: Adult, 0301 basic medicine, Infertility, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Puberty, Precocious, 030209 endocrinology & metabolism, Biochemistry, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Metabolic Diseases, Internal medicine, medicine, Humans, Precocious puberty, Family history, business.industry, Calcium-Binding Proteins, Biochemistry (medical), Membrane Proteins, Type 2 Diabetes Mellitus, Middle Aged, medicine.disease, Obesity, Polycystic ovary, 030104 developmental biology, Mutation, Menarche, Female, business, Infertility, Female, Polycystic Ovary Syndrome
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfc1f6828a661f412f6300754abafd36
https://doi.org/10.1210/jc.2018-02010