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1Academic Journal
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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2Academic Journal
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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3Academic Journal
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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4
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
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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
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6Academic Journal
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
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7
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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8
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
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9
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
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10
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
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12
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
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13
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
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المؤلفون: Michelle Bianchi de Moraes, Edoarda Vasco de Albuquerque Albuquerque, Alexander A. L. Jorge, Natalia Torres, Elisangela P S Quedas, Alexsandra C. Malaquias, R.M. Noronha, Débora Romeo Bertola, Sandra M.F. Villares, Mariana F A Funari, Thais Kataoka Homma
المصدر: American journal of medical genetics. Part AREFERENCES. 185(3)
مصطلحات موضوعية: musculoskeletal diseases, 0301 basic medicine, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Adolescent, Genotype, medicine.medical_treatment, Protein Tyrosine Phosphatase, Non-Receptor Type 11, 030105 genetics & heredity, Carbohydrate metabolism, Impaired glucose tolerance, 03 medical and health sciences, chemistry.chemical_compound, Young Adult, Internal medicine, Genetics, medicine, Humans, Young adult, Genetics (clinical), Genetic Association Studies, Aged, Triglyceride, business.industry, Cholesterol, Insulin, Noonan Syndrome, Middle Aged, medicine.disease, Prognosis, PTPN11, 030104 developmental biology, Endocrinology, Cross-Sectional Studies, Phenotype, chemistry, Mutation, Metabolome, Noonan syndrome, Female, business, Follow-Up Studies
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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 2020مصطلحات 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
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16
المؤلفون: Ana Cristina Victorino Krepischi, Vinicius Nahime Brito, Mariana F A Funari, Alexander A. L. Jorge, Carla Rosenberg, Luciana Ribeiro Montenegro, Lucas Santos de Santana, Virginie Steunou, Chong Ae Kim, Lorna C Gilligan, Jan Idkowiak, Francis de Zegher, Ana Pinheiro Machado Canton, Ana Claudia Latronico, Rachel Sayuri Honjo, Berenice B. Mendonca, Marie-Laure Sobrier, Irène Netchine, Silvia Figueiredo Costa, Wiebke Arlt
المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USPمصطلحات موضوعية: Adult, Male, Candidate gene, Ubiquitin-Protein Ligases, Puberty, Precocious, 030209 endocrinology & metabolism, Bioinformatics, ANORMALIDADES CROMOSSÔMICAS, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Gene duplication, medicine, Humans, Copy-number variation, Genetic Testing, Allele, Exome sequencing, 030304 developmental biology, Retrospective Studies, 0303 health sciences, business.industry, Rehabilitation, Puberty, Genetic disorder, Obstetrics and Gynecology, RNA-Binding Proteins, medicine.disease, Reproductive Medicine, Female, business, Candidate Disease Gene, Brazil
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المؤلفون: Mirian Yumie Nishi, Thatiana Evilen Silva, Daniela Moraes Silva, Antonio M. Lerario, Luciana Ribeiro Montenegro, Anna Flavia Figueredo Benedetti, Rafael Loch Batista, Mariana F A Funari, Sorahia Domenice, Alexander A. L. Jorge, Maria Tereza Martins Ferrari, Elaine Maria Frade Costa, Jose Antonio Diniz Faria Junior, Nathalia Lisboa Gomes, Berenice B. Mendonca
المصدر: Journal of the Endocrine Society
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, Cohort, Medicine, Reproductive Endocrinology, Disorders of sex development, business, medicine.disease, Sex, Gender, and Hormones, AcademicSubjects/MED00250
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المؤلفون: Rachel Sayuri Honjo, Alexander A. L. Jorge, Fernanda Viana Silva, Débora Romeo Bertola, Guilherme L. Yamamoto, Mariana F A Funari, Renata Maria de Noronha, Chong Ae Kim, Suzana Nesi-França, Michelle Bianchi de Moraes, Elisangela P S Quedas, Alexsandra C. Malaquias, Thaiana T O Souza, Thais Kataoka Homma, Julienne A. R. Carvalho
المصدر: Hormone Research in Paediatrics. 91:252-261
مصطلحات موضوعية: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, 030219 obstetrics & reproductive medicine, Response to therapy, business.industry, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Chronological age, medicine.disease, Growth hormone, Adult height, PTPN11, Growth velocity, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Noonan syndrome, In patient, skin and connective tissue diseases, business
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المؤلفون: Ana Pinheiro-Machado Canton, Ana Cristina Victorino Krepischi, Mariana F A Funari, Rachel Sayuri Honjo Kawahira, Carlos Eduardo Seraphim, Flávia Rezende Tinano, Alexander A. L. Jorge, Berenice B. Mendonca, Luciana Ribeiro Montenegro, Silvia Figueiredo Costa, Carolina Ramos, Chong Kim, Ana Claudia Latronico, Vinicius Nahime Brito, Francis de Zegher, Carla Rosenberg, Aline Guimarães de Faria
المصدر: Journal of the Endocrine Society
مصطلحات موضوعية: Candidate gene, Pediatric Endocrinology, Pediatric Sexual Differentiation, Puberty, and Bone Biology, Endocrinology, Diabetes and Metabolism, Central precocious puberty, Computational biology, Biology, Genetic analysis, Throughput (business), Phenotype, AcademicSubjects/MED00250
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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)
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