المؤلفون: Raissa C. Rezende, Renata Maria Noronha, Ana Keselman, Elisangela P.S. Quedas, Naiara C.B. Dantas, Nathalia L.M. Andrade, Debora R. Bertola, Alexsandra C. Malaquias, Alexander A.L. Jorge

المصدر: Hormone Research in Paediatrics. 95:51-61

مصطلحات موضوعية: Puberty, Delayed, Phenotype, Endocrinology, Endocrinology, Diabetes and Metabolism, Noonan Syndrome, Puberty, Pediatrics, Perinatology and Child Health, Humans, Female, Body Height

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d103bb901db6dd68025e20a2b980d8d4
https://doi.org/10.1159/000522670

المؤلفون: Sonir Roberto Rauber Antonini, Berenice B. Mendonca, Renata C. Scalco, Sofia Helena Valente de Lemos-Marini, Alexander A. L. Jorge, Ester R. Silveira, Ivo J.P. Arnhold, Naiara C.B. Dantas, Gil Guerra-Júnior, Adriana F. Braz, Alexsandra C. Malaquias

المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

مصطلحات موضوعية: Adult, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Untreated group, Turner Syndrome, Context (language use), Growth hormone, Gastroenterology, Endocrinology, Interquartile range, Internal medicine, Turner syndrome, medicine, Humans, In patient, Growth Disorders, Retrospective Studies, Human Growth Hormone, business.industry, HORMÔNIOS, medicine.disease, Body Height, Adult height, Treatment Outcome, Pediatrics, Perinatology and Child Health, Gh treatment, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c447aa8bcef76e544a9417a2e5804f20
https://doi.org/10.1159/000516869

المؤلفون: Caio Robledo D'Angioli Costa Quaio, Tatiana Ferreira de Almeida, Amanda Salem Brasil, Alexandre C. Pereira, Alexander A. L. Jorge, Alexsandra C. Malaquias, Chong Ae Kim, Debora Romeo Bertola

المصدر: Clinics, Vol 68, Iss 8, Pp 1079-1083 (2013)

مصطلحات موضوعية: Noonan, Skin, Tegument, Tegumentary, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1807-59322013000801079&lng=en&tlng=en; https://doaj.org/toc/1980-5322

URL الوصول: https://doaj.org/article/5e9a37c44ed847d8ad870db8094326ab

المؤلفون: Andrade, Nathalia L. M., Funari, Mariana F A, Alexsandra C Malaquias, Collett-Solberg, Paulo Ferrez, Gomes, Nathalia, Scalco, Renata C, Naiara C. B. Dantas, Rezende, Raissa C., Tibúrcio, Angelica M. F. P., Souza, Micheline A. R., Freire, Bruna, Krepischi, Ana CV, Longui, Carlos, Lerario, Antonio Marcondes, Arnhold, Ivo, Jorge, Alexander A L, Vasques, Gabriela A

الاتاحة: https://dx.doi.org/10.13140/rg.2.2.23105.63844
https://rgdoi.net/10.13140/RG.2.2.23105.63844

المؤلفون: Andrade, Nathalia L. M., Funari, Mariana F A, Alexsandra C. Malaquias, Collett-Solberg, Paulo Ferrez, Gomes, Nathalia L. R. A., Scalco, Renata C, Naiara C. B. Dantas, Rezende, Raissa C., Tib��rcio, Angelica M. F. P., Souza, Micheline A. R., Freire, Bruna, Krepischi, Ana CV, Longui, Carlos, Lerario, Antonio Marcondes, Arnhold, Ivo, Jorge, Alexander A L, Vasques, Gabriela A

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0b81377fe41fee89e0efcf55d30d1932

المؤلفون: Funari, Kim Ca, Antonio M. Lerario, Paulo Ferrez Collett-Solberg, Edoarda Vasco de Albuquerque Albuquerque, Andrew Dauber, Miura Sugayama Sm, Honjo Kawahira Rs, Bruna L Freire, Thais Kataoka Homma, Mirian Yumie Nishi, Jorge Aal, Alexsandra C. Malaquias, Arnhold Ijp, Gabriela A Vasques, Débora Romeo Bertola

المصدر: The Journal of Pediatrics. 215:192-198

مصطلحات موضوعية: Male, Candidate gene, Pediatrics, medicine.medical_specialty, Ubiquitin-Protein Ligases, Kinesins, Cell Cycle Proteins, Dwarfism, Short stature, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Exome Sequencing, Intellectual disability, Humans, Medicine, Abnormalities, Multiple, Prospective Studies, 030212 general & internal medicine, Child, Prospective cohort study, Cyclin-Dependent Kinase Inhibitor p57, Exome sequencing, Adenosine Triphosphatases, biology, business.industry, Tumor Suppressor Proteins, Histone-Lysine N-Methyltransferase, medicine.disease, Prenatal onset, Actins, DNA-Binding Proteins, Repressor Proteins, Cytoskeletal Proteins, KMT2A, Phosphatidylinositol-3,4,5-Trisphosphate 5-Phosphatases, Infant, Small for Gestational Age, Mutation, Pediatrics, Perinatology and Child Health, biology.protein, Etiology, Small for gestational age, Transcriptional Elongation Factors, medicine.symptom, business, Myeloid-Lymphoid Leukemia Protein

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc4e67eea6104c9b74119e3a4633f0f7
https://doi.org/10.1016/j.jpeds.2019.08.024

المؤلفون: Chong Ae Kim, Guilherme L. Yamamoto, Rachel Sayuri Honjo, José Ricardo Magliocco Ceroni, Débora Romeo Bertola, Alexander A. L. Jorge, Michele M Buscarilli, Alexsandra C. Malaquias, Maria Rita Passos-Bueno, Alexandre C. Pereira, Amanda B Freitas, Matheus Augusto Araujo Castro

المصدر: American journal of medical genetics. Part C, Seminars in medical geneticsREFERENCES. 184(4)

مصطلحات موضوعية: 0301 basic medicine, Genetics, Genotype, Noonan Syndrome, Hypertrophic cardiomyopathy, 030105 genetics & heredity, Biology, medicine.disease, Phenotype, PTPN11, Bleeding diathesis, 03 medical and health sciences, 030104 developmental biology, Mutation, medicine, SOS1, Noonan syndrome, Humans, Allele, Craniofacial, Genetics (clinical), Brazil

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a5f3498406cd6b957ded0dbbd09e037
https://pubmed.ncbi.nlm.nih.gov/33128510

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eba04b7c40c5fddb3c10a3928b9c61de
https://pubmed.ncbi.nlm.nih.gov/33382187

المؤلفون: Alexsandra C. Malaquias, Alexander A. L. Jorge

المصدر: Molecular and cellular endocrinology. 519

مصطلحات موضوعية: 0301 basic medicine, MAPK/ERK pathway, medicine.medical_specialty, MAP Kinase Signaling System, STAT5B, 030209 endocrinology & metabolism, Biology, Growth hormone, Biochemistry, Models, Biological, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Germline mutation, Internal medicine, medicine, Animals, Humans, Molecular Biology, Gene, medicine.disease, Growth hormone secretion, Pathophysiology, Enzyme Activation, 030104 developmental biology, Growth Hormone, ras Proteins, Noonan syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::784d59d105302486f052688f90891f08
https://pubmed.ncbi.nlm.nih.gov/33011209

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e3409797e7de6ec1b9617e470fc7e5c4
https://doi.org/10.1159/000500264

المؤلفون: Berenice B. Mendonca, Alexander A. L. Jorge, Gil Guerra-Júnior, Adriana F. Braz, Alexsandra C. Malaquias, Sonir Roberto Rauber Antonini, Renata C. Scalco

المصدر: Journal of the Endocrine Society

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, medicine.disease, Growth hormone, Adult height, Endocrinology, Pediatric Endocrinology, Internal medicine, Turner syndrome, medicine, Pediatric Growth and Adrenal Disorders, business, AcademicSubjects/MED00250

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce6e755c0107e9e60970df7c25cf9b19
https://doi.org/10.1210/jendso/bvaa046.1649

المؤلفون: Antonio M. Lerario, Alexsandra C. Malaquias, Mariana F A Funari, AM Leal, Bruna L Freire, Thais Kataoka Homma, Elvira Deolinda Rodrigues Pereira Velloso, Alexander A. L. Jorge

المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

مصطلحات موضوعية: Male, 0301 basic medicine, Proband, Oncology, medicine.medical_specialty, Microcephaly, Genotype, Genetic counseling, Biology, Short stature, 03 medical and health sciences, Fanconi anemia, Internal medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, ANEMIA, Genetics (clinical), Exome sequencing, BRCA1 Protein, Homozygote, Cancer, General Medicine, medicine.disease, Pedigree, Fanconi Anemia, Phenotype, 030104 developmental biology, Child, Preschool, Mutation, Female, medicine.symptom, Chromosome instability syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8be956f2aeab0bf84f2b80e150bd2f3
https://doi.org/10.1016/j.ejmg.2017.11.003

المؤلفون: Mariana F A Funari, Antonio M. Lerario, Alexander A. L. Jorge, Ivo J.P. Arnhold, Thais Kataoka Homma, Bruna L Freire, Alexsandra C. Malaquias, Gabriela A Vasques

المصدر: Yearbook of Paediatric Endocrinology.

مصطلحات موضوعية: 0301 basic medicine, Genetic Markers, Male, Pediatrics, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, 030209 endocrinology & metabolism, Context (language use), Biology, Biochemistry, Short stature, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Internal medicine, Exome Sequencing, medicine, Humans, Child, Exome, Exome sequencing, Growth Disorders, Massive parallel sequencing, business.industry, Biochemistry (medical), Body Weight, Infant, Newborn, High-Throughput Nucleotide Sequencing, medicine.disease, Body Height, PTPN11, 030104 developmental biology, Child, Preschool, Cohort, Infant, Small for Gestational Age, Small for gestational age, Female, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::983a64563cf3270764a17d9593ee3959
https://doi.org/10.1530/ey.16.4.8

المؤلفون: Edoarda Vasco de Albuquerque Albuquerque, Alexander A. L. Jorge, Andrew Dauber, Thais Kataoka Homma, Rachel Sayuri Honjo, Antonio M. Lerario, Gabriela A Vasques, Débora Romeo Bertola, Alexsandra C. Malaquias, Mariana F A Funari, Chong Ae Kim, Bruna L Freire

المصدر: Hormone research in paediatrics. 92(2)

مصطلحات موضوعية: Heart Septal Defects, Ventricular, Male, Pediatrics, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Short stature, Growth hormone deficiency, Craniofacial Abnormalities, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Child Development, medicine, Humans, Abnormalities, Multiple, Insulin-Like Growth Factor I, Child, Dwarfism, Pituitary, Growth Disorders, 030219 obstetrics & reproductive medicine, business.industry, Human Growth Hormone, Puberty, Bone age, Anthropometry, Adolescent Development, medicine.disease, Body Height, Original data, Floating–Harbor syndrome, Child, Preschool, Pediatrics, Perinatology and Child Health, Cohort, Small for gestational age, Female, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b33d494b919156fa63ca8ba02a17a7b3
https://pubmed.ncbi.nlm.nih.gov/31715605

المؤلفون: Berenice B. Mendonca, Nathalia Menezes De Andrade, Mirian Yumie Nishi, Gabriela A Vasques, Alexander A. L. Jorge, Renata C. Scalco, Mariana F A Funari, Alexsandra C. Malaquias

المصدر: Journal of the Endocrine Society

مصطلحات موضوعية: Natural history, Shox gene, Pediatric Endocrinology, Endocrinology, Diabetes and Metabolism, Pediatric Transgender Medicine, Growth Disorders, and Puberty, In patient, Biology, Bioinformatics, Haploinsufficiency, Adult height

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ae7e16cff1438429c91d6d544c806bc
http://europepmc.org/articles/PMC6553356

المؤلفون: Renata C. Scalco, Mirian Yumie Nishi, Alexsandra C. Malaquias, Berenice B. Mendonca, M A Medeiros

المصدر: Journal of the Endocrine Society

مصطلحات موضوعية: Gynecology, Pregnancy, medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, Turner syndrome, medicine, Reproductive Endocrinology, Reproductive Health throughout the Lifespan, medicine.disease, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c60d19d9836959439d974e6402027aa
http://europepmc.org/articles/PMC6552255

المؤلفون: Albuquerque, Edoarda Vasco De Albuquerque, Funari, Mariana F A, Elisangela Pereira De Souza Quedas, Honjo, Rachel Sayuri, Jallad, Raquel Soares, Thaís Kataoka Homma, Martin, Regina, Brito, Vinicius N, Alexsandra C Malaquias, Lerario, Antonio Marcondes, Rosenberg, Carla, Krepischi, Ana CV, Kim, Chong Ae, Arnhold, Ivo J P, Jorge, Alexander A L

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9f5d92b9bde0c6bc8dcae16f9c2827a5

المؤلفون: Alexsandra C. Malaquias, Alexander A. L. Jorge

مصطلحات موضوعية: MAPK/ERK pathway, medicine.medical_specialty, business.industry, medicine.disease, Short stature, Pathogenesis, Endocrinology, Internal medicine, Medicine, Noonan syndrome, medicine.symptom, Signal transduction, business, Protein kinase A, Receptor, Hormone

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2f5ce977c79faced495e4c415b2d9409
https://doi.org/10.1016/b978-0-12-815348-2.00001-3

المؤلفون: Robert P. Anthonappa, Ashish Chogle, Alicia Diaz-Thomas, Francisco J. Garcia, Moran Gotesman, Rishi Gupta, Alexander A.L. Jorge, Nigel M. King, Alexsandra C. Malaquias, Ronak J. Naik, Shalini Shah, Sunil K. Sinha, Amit Soni, Minodora O. Totoiu, Peter Zhan Tao Wang, Elias Wehbi, Neda Zadeh

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::299b3787d958f5fc91f0500504097f09
https://doi.org/10.1016/b978-0-12-815348-2.09992-8

المؤلفون: Adriane, de Andre Cardoso-Demartini, Alexsandra C, Malaquias, Margaret Cristina, da Silva Boguszewski

المصدر: Pediatric endocrinology reviews : PER. 16(Suppl 1)

مصطلحات موضوعية: Human Growth Hormone, Pregnancy, Child, Preschool, Infant, Small for Gestational Age, Humans, Female, Gestational Age, Sexual Maturation, Body Height, Growth Disorders

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::f36531227066d1c7b2131695c8419e6a
https://pubmed.ncbi.nlm.nih.gov/30378788