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Delayed Puberty Phenotype Observed in Noonan Syndrome Is More Pronounced in Girls than BoysRezende, Raissa C. ; Noronha, Renata Maria ; Keselman, Ana ; Quedas, Elisangela P.S. ; Dantas, Naiara C.B. ; Andrade, Nathalia L.M. ; Bertola, Debora R. ; Malaquias, Alexsandra C. ; Jorge, Alexander A.L.Hormone research in paediatrics, 2022-05, Vol.95 (1), p.51-61 [Periódico revisado por pares]Basel, SwitzerlandTexto completo disponível |
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Role of the Natriuretic Peptide System in Normal Growth and Growth DisordersVasques, Gabriela A. ; Arnhold, Ivo J.P. ; Jorge, Alexander A.L.Hormone research in paediatrics, 2014-01, Vol.82 (4), p.222-229 [Periódico revisado por pares]Basel, Switzerland: S. Karger AGTexto completo disponível |
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Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the LiteratureHomma, Thais K. ; Freire, Bruna L. ; Honjo, Rachel ; Dauber, Andrew ; Funari, Mariana F.A. ; Lerario, Antonio M. ; Albuquerque, Edoarda V.A. ; Vasques, Gabriela A. ; Bertola, Debora R. ; Kim, Chong A. ; Malaquias, Alexsandra C. ; Jorge, Alexander A.L.Hormone research in paediatrics, 2020-01, Vol.92 (2), p.115-123 [Periódico revisado por pares]Basel, SwitzerlandTexto completo disponível |
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Material Type: Artigo
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Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan SyndromeMalaquias, Alexsandra C. ; Noronha, Renata M. ; Souza, Thaiana T.O. ; Homma, Thais K. ; Funari, Mariana F.A. ; Yamamoto, Guilherme L. ; Silva, Fernanda Viana ; Moraes, Michelle B. ; Honjo, Rachel S. ; Kim, Chong A. ; Nesi-França, Suzana ; Carvalho, Julienne A.R. ; Quedas, Elisangela P.S. ; Bertola, Debora R. ; Jorge, Alexander A.L.Hormone research in paediatrics, 2019-01, Vol.91 (4), p.252-261 [Periódico revisado por pares]Basel, SwitzerlandTexto completo disponível |
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Material Type: Artigo
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GH-Releasing Hormone Receptor Gene: A Novel Splice-Disrupting Mutation and Study of Founder EffectsMarui, Suemi ; Trarbach, Ericka B. ; Boguszewski, Margaret C.S. ; França, Marcela M. ; Jorge, Alexander A.L. ; Inoue, Hiroshi ; Nishi, Mirian Y. ; de Lacerda Filho, Luiz ; Aguiar-Oliveira, Manuel H. ; Mendonca, Berenice B. ; Arnhold, Ivo J.P.Hormone research in paediatrics, 2012-01, Vol.78 (3), p.165-172 [Periódico revisado por pares]Basel, Switzerland: S. Karger AGTexto completo disponível |
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Material Type: Artigo
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Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasiade Bruin, Christiaan ; Finlayson, Courtney ; Funari, Mariana F.A. ; Vasques, Gabriela A. ; Lucheze Freire, Bruna ; Lerario, Antonio M. ; Andrew, Melissa ; Hwa, Vivian ; Dauber, Andrew ; Jorge, Alexander A.L.Hormone research in paediatrics, 2016-01, Vol.86 (5), p.342-348 [Periódico revisado por pares]Basel, SwitzerlandTexto completo disponível |
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Material Type: Artigo
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Noonan Syndrome and Related Disorders: A Review of Clinical Features and Mutations in Genes of the RAS/MAPK PathwayJorge, Alexander A.L. ; Malaquias, Alexsandra C. ; Arnhold, Ivo J.P. ; Mendonca, Berenice B.Hormone research, 2009-01, Vol.71 (4), p.185-193 [Periódico revisado por pares]Basel, Switzerland: S. Karger AGTexto completo disponível |
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Material Type: Artigo
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The Sitting Height/Height Ratio for Age in Healthy and Short Individuals and Its Potential Role in Selecting Short Children for SHOX AnalysisMalaquias, Alexsandra C. ; Scalco, Renata C. ; Fontenele, Eveline G.P. ; Costalonga, Everlayny F. ; Baldin, Alexandre D. ; Braz, Adriana F. ; Funari, Mariana F.A. ; Nishi, Mirian Y. ; Guerra-Junior, Gil ; Mendonca, Berenice B. ; Arnhold, Ivo J.P. ; Jorge, Alexander A.L.Hormone research in paediatrics, 2013-01, Vol.80 (6), p.449-456 [Periódico revisado por pares]Basel, Switzerland: S. Karger AGTexto completo disponível |
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Material Type: Artigo
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Diagnosis, Genetics, and Therapy of Short Stature in Children: A Growth Hormone Research Society International PerspectiveCollett-Solberg, Paulo F. ; Ambler, Geoffrey ; Backeljauw, Philippe F. ; Bidlingmaier, Martin ; Biller, Beverly M.K. ; Boguszewski, Margaret C.S. ; Cheung, Pik To ; Choong, Catherine Seut Yhoke ; Cohen, Laurie E. ; Cohen, Pinchas ; Dauber, Andrew ; Deal, Cheri L. ; Gong, Chunxiu ; Hasegawa, Yukihiro ; Hoffman, Andrew R. ; Hofman, Paul L. ; Horikawa, Reiko ; Jorge, Alexander A.L. ; Juul, Anders ; Kamenický, Peter ; Khadilkar, Vaman ; Kopchick, John J. ; Kriström, Berit ; Lopes, Maria de Lurdes A. ; Luo, Xiaoping ; Miller, Bradley S. ; Misra, Madhusmita ; Netchine, Irene ; Radovick, Sally ; Ranke, Michael B. ; Rogol, Alan D. ; Rosenfeld, Ron G. ; Saenger, Paul ; Wit, Jan M. ; Woelfle, JoachimHormone research in paediatrics, 2019, Vol.92 (1), p.1-14 [Periódico revisado por pares]Basel, Switzerland: S. Karger AGTexto completo disponível |
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Material Type: Artigo
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Growth Hormone Receptor Exon 3 Isoforms and Their Implication in Growth Disorders and TreatmentJorge, Alexander A.L. ; Arnhold, Ivo J.P.Hormone research, 2009-04, Vol.71 (2), p.55-63 [Periódico revisado por pares]Basel, SwitzerlandTexto completo disponível |