المؤلفون: Pedro L. F. Costa, Monica M. França, Maria L. Katayama, Eduardo T. Carneiro, Regina M. Martin, Maria A. K. Folgueira, Ana C. Latronico, Bruno Ferraz-de-Souza

المصدر: Cells, Vol 8, Iss 4, p 318 (2019)

مصطلحات موضوعية: vitamin D, calcitriol, microarray, gene expression, CYP24A1, cell proliferation, Cytology, QH573-671

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4409/8/4/318Test; https://doaj.org/toc/2073-4409Test

الوصول الحر: https://doaj.org/article/b39d9bdb0819433888171380f8656bedTest

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)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/a57d126b46c242668dad6a4dabe87b88Test

المؤلفون: Federico Salas-Lucia, Monica M. França, James A. Amrhein, J. Elizabeth Weir, Alexandra M. Dumitrescu, Samuel Refetoff

المصدر: Thyroid

مصطلحات موضوعية: Thyroid Hormone Resistance Syndrome, Thyroid Hormones, Thyroxine, Endocrinology, Brief Report, Endocrinology, Diabetes and Metabolism, Mutation, Thyroid Dysgenesis, Congenital Hypothyroidism, Humans, Thyrotropin, Thyroid Hormone Receptors beta

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df85daf940eb0e7fa4d30752e3c67bccTest
https://doi.org/10.1089/thy.2021.0523Test

المؤلفون: Antonio C. Bianco, Alina German, Samuel Refetoff, Xiao Hui Liao, Gustavo W. Fernandes, Monica M. França, Alexandra M. Dumitrescu

المصدر: Thyroid. 31:202-207

مصطلحات موضوعية: medicine.medical_specialty, Mutation, medicine.diagnostic_test, Endocrinology, Diabetes and Metabolism, Thyroid disease, Thyroid, 030209 endocrinology & metabolism, Biology, medicine.disease_cause, medicine.disease, Thyroid function tests, Reverse triiodothyronine, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Endocrinology, medicine.anatomical_structure, chemistry, 030220 oncology & carcinogenesis, Internal medicine, Iodothyronine deiodinase, medicine, Missense mutation, Hormone

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::31dd283cad76eef9b545b8f6842c6db5Test
https://doi.org/10.1089/thy.2020.0253Test

المؤلفون: Monica M. França, Gustavo W. Fernandes, Alexandra M. Dumitrescu, Xiao Hui Liao, Samuel Refetoff, Alina German, Antonio C. Bianco

المصدر: Yearbook of Paediatric Endocrinology.

مصطلحات موضوعية: medicine.medical_specialty, medicine.diagnostic_test, Mutant, Thyroid, Biology, Thyroid function tests, Reverse triiodothyronine, chemistry.chemical_compound, Endocrinology, medicine.anatomical_structure, chemistry, Internal medicine, Iodothyronine deiodinase, medicine, Missense mutation, Gene, Hormone

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6d394d3b769216c88f01cc1a58115b24Test
https://doi.org/10.1530/ey.18.3.11Test

المؤلفون: Theodora Pappa, Robert L. Levine, Gary D. Rothberger, Alexandra M. Dumitrescu, Sandra Ilaka-Chibuluzo, Samuel Refetoff, Monica M. França

المصدر: Thyroid. 30:640-642

مصطلحات موضوعية: musculoskeletal diseases, endocrine system, medicine.medical_specialty, endocrine system diseases, Somatic cell, Endocrinology, Diabetes and Metabolism, Thyroid, Tall Stature, Four quadrants, Biology, Endocrinology, Germline mutation, Gain of function, medicine.anatomical_structure, Internal medicine, Mutation (genetic algorithm), medicine, GNAS complex locus, biology.protein

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e1e089d0f8320f19bc056410a88e904cTest
https://doi.org/10.1089/thy.2019.0471Test

المؤلفون: Sorahia Domenice, Mirian Yumie Nishi, Berenice B. Mendonca, Antonio M. Lerario, Xingfa Han, David Garcia-Galiano, Eveline Gadelha Pereira Fontenele, Carol F. Elias, Alexander A. L. Jorge, Mariana F A Funari, Monica M. França

المصدر: The Journal of Clinical Endocrinology & Metabolism. 104:2827-2841

مصطلحات موضوعية: Male, 0301 basic medicine, Infertility, Heterozygote, medicine.medical_specialty, Adolescent, Litter Size, Endocrinology, Diabetes and Metabolism, Genetic counseling, Clinical Biochemistry, Mutation, Missense, Context (language use), Primary Ovarian Insufficiency, Biology, Bioinformatics, medicine.disease_cause, Biochemistry, Gene Knockout Techniques, Mice, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Loss of Function Mutation, Internal medicine, Exome Sequencing, medicine, Animals, Humans, Missense mutation, Sexual Maturation, Child, Clinical Research Articles, Exome sequencing, Mutation, Point mutation, Forkhead Box Protein O3, Homozygote, Ovary, Biochemistry (medical), Female infertility, RNA Polymerase III, medicine.disease, Time-to-Pregnancy, 030104 developmental biology, Female, CRISPR-Cas Systems, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07440a7fa505d32cda68194f235a5a71Test
https://doi.org/10.1210/jc.2018-02485Test

المؤلفون: Adriana M. Fernandes, Evelin Aline Zanardo, Antonio M. Lerario, Lucas Santos de Santana, Manuela G. M. Rocha-Braz, Bruno Ferraz-de-Souza, Leslie Domenici Kulikowski, Monica M. França, Regina Matsunaga Martin, Berenice B. Mendonca

المصدر: Journal of the Endocrine Society

مصطلحات موضوعية: idiopathic osteoporosis, 0301 basic medicine, Candidate gene, Endocrinology, Diabetes and Metabolism, Genome-wide association study, Context (language use), genetic analysis, 030105 genetics & heredity, Bioinformatics, Genetic analysis, 03 medical and health sciences, symbols.namesake, Commentaries, familial osteoporosis, Genetic predisposition, Medicine, Clinical Research Articles, Sanger sequencing, Massive parallel sequencing, business.industry, massively parallel sequencing, targeted massively parallel sequencing, bone fragility, 030104 developmental biology, symbols, candidate genes, business, AcademicSubjects/MED00250, SNP array

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32c03304d51b91de7ee82346eb3d352fTest
https://doi.org/10.1210/jendso/bvaa148Test

المؤلفون: Sorahia Domenice, Berenice B. Mendonca, Gustavo Arantes Rosa Maciel, Andréa Trevas Maciel-Guerra, Mariza Gerdulo Santos, Gil Guerra-Júnior, Monica M. França, Mirian Yumie Nishi, Antonio M. Lerario, Daniela Rodrigues de Moraes, Everlayny F. Costalonga, Mariana F A Funari

المصدر: PLoS ONE
PLoS ONE, Vol 15, Iss 10, p e0240795 (2020)

مصطلحات موضوعية: 0301 basic medicine, Heredity, Physiology, Inheritance Patterns, Disease, Primary Ovarian Insufficiency, Bioinformatics, Genetic analysis, Biochemistry, Homozygosity, Cohort Studies, 0302 clinical medicine, Endocrinology, Animal Cells, Female Infertility, Medicine and Health Sciences, Medicine, Copy-number variation, Sanger sequencing, 030219 obstetrics & reproductive medicine, Multidisciplinary, Massive parallel sequencing, Heterozygosity, medicine.diagnostic_test, Nucleic acids, symbols, Female, Anatomy, Cellular Types, Brazil, Research Article, Adult, Adolescent, Patients, Science, Urology, DNA repair, 03 medical and health sciences, symbols.namesake, Young Adult, Genetics, Animals, Humans, Clinical significance, Genetic Testing, Genetic testing, Mouth, Endocrine Physiology, business.industry, Palate, Puberty, Biology and Life Sciences, Human Genetics, DNA, Cell Biology, Disease Models, Animal, 030104 developmental biology, Germ Cells, Infertility, Etiology, business, Digestive System

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::371903790939b2abbe2c5ef80d72311eTest
http://europepmc.org/articles/PMC7584253Test

المؤلفون: Berenice B. Mendonca, Monica M. França

المصدر: Best Practice & Research Clinical Endocrinology & Metabolism. 36:101594

مصطلحات موضوعية: endocrine system, Endocrinology, Diabetes and Metabolism, Genetic counseling, Cell Cycle Proteins, Nerve Tissue Proteins, Receptors, Cell Surface, Primary Ovarian Insufficiency, Biology, Amino Acyl-tRNA Synthetases, Fragile X Mental Retardation Protein, Endocrinology, FANCE, Basic Helix-Loop-Helix Transcription Factors, GNAS complex locus, Animals, Guanine Nucleotide Exchange Factors, Humans, FANCL, Genetic Testing, Ovarian Diseases, Adaptor Proteins, Signal Transducing, Mammals, Genetics, Microfilament Proteins, DNA Helicases, Membrane Proteins, Nuclear Proteins, RNA-Binding Proteins, Ubiquitin-Protein Ligase Complexes, Histone-Lysine N-Methyltransferase, FMR1, FANCA, DNA-Binding Proteins, MSH5, Exodeoxyribonucleases, CYP17A1, Mutation, Trans-Activators, biology.protein, Female, Receptors, Progesterone

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e26e24e9ad2006187c11992281378faTest
https://doi.org/10.1016/j.beem.2021.101594Test