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Phenotype–genotype analysis of 242 individuals with RASopathies: 18‐year experience of a tertiary center in Brazil.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 896, doi. 10.1002/ajmg.c.31851
By:
- Bertola, Débora R.;
- Castro, Matheus A. A.;
- Yamamoto, Guilherme L.;
- Honjo, Rachel S.;
- Ceroni, José Ricardo;
- Buscarilli, Michele M.;
- Freitas, Amanda B.;
- Malaquias, Alexsandra C.;
- Pereira, Alexandre C.;
- Jorge, Alexander A. L.;
- Passos‐Bueno, Maria Rita;
- Kim, Chong A.
Publication type:
Article
Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 774, doi. 10.1002/ajmg.a.62039
By:
- Noronha, Renata M.;
- Villares, Sandra M F;
- Torres, Natalia;
- Quedas, Elisangela P S;
- Homma, Thais Kataoka;
- Albuquerque, Edoarda V A;
- Moraes, Michelle B;
- Funari, Mariana F A;
- Bertola, Debora R;
- Jorge, Alexander A L;
- Malaquias, Alexsandra C
Publication type:
Article
Further evidence of the importance of RIT1 in Noonan syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2952, doi. 10.1002/ajmg.a.36722
By:
- Bertola, Débora R.;
- Yamamoto, Guilherme L.;
- Almeida, Tatiana F.;
- Buscarilli, Michelle;
- Jorge, Alexander A. L.;
- Malaquias, Alexsandra C.;
- Kim, Chong A.;
- Takahashi, Vanessa N. V.;
- Passos‐Bueno, Maria Rita;
- Pereira, Alexandre C.
Publication type:
Article
Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2700, doi. 10.1002/ajmg.a.35519
By:
- Malaquias, Alexsandra C.;
- Brasil, Amanda S.;
- Pereira, Alexandre C.;
- Arnhold, Ivo J.P.;
- Mendonca, Berenice B.;
- Bertola, Debora R.;
- Jorge, Alexander A.L.
Publication type:
Article
Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1077, doi. 10.1002/ajmg.a.35290
By:
- Quaio, Caio R.D.C.;
- Carvalho, Jozélio F.;
- da Silva, Clovis A.;
- Bueno, Cleonice;
- Brasil, Amanda S.;
- Pereira, Alexandre C.;
- Jorge, Alexander A.L.;
- Malaquias, Alexsandra C.;
- Kim, Chong A.;
- Bertola, Débora R.
Publication type:
Article
KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: Report of another family with metopic craniosynostosis.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1178, doi. 10.1002/ajmg.a.35270
By:
- Brasil, Amanda S.;
- Malaquias, Alexsandra C.;
- Kim, Chong A.;
- Krieger, José Eduardo;
- Jorge, Alexander A.L.;
- Pereira, Alexandre C.;
- Bertola, Débora R.
Publication type:
Article
Genetic Predictors of Long-Term Response to Growth Hormone (GH) Therapy in Children With GH Deficiency and Turner Syndrome: The Influence of a SOCS2 Polymorphism.
Published in:
2014
By:
- Braz, Adriana F;
- Costalonga, Everlayny F;
- Trarbach, Ericka B;
- Scalco, Renata C;
- Malaquias, Alexsandra C;
- Guerra-Junior, Gil;
- Antonini, Sonir R R;
- Mendonca, Berenice B;
- Arnhold, Ivo J P;
- Jorge, Alexander A L
Publication type:
Journal Article
Can the Insulin Sensitivity Index (ISI) in Association with Insulin-like Growth Factor Binding Protein-1 Identify Insulin Resistance Early in Overweight Children?
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2009, v. 22, n. 4, p. 353
By:
- Malaquias, Alexsandra C.;
- Bezzan, Paula C.;
- MontenegroJr., Renan;
- Daneluzzi, Júlio C.;
- Ricco, Rubens G.;
- Del Ciampo, Luis A.;
- Ferraz, Ivan S.;
- Elias Jr., Jorge;
- Martinelli, Ana L. C.;
- Martinelli Jr., Carlos E.
Publication type:
Article
Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways.
Published in:
European Journal of Endocrinology, 2014, v. 171, n. 2, p. 253, doi. 10.1530/EJE-14-0232
By:
- Canton, Ana P. M.;
- Costa, Sélvia S.;
- Rodrigues, Tatiane C.;
- Bertola, Debora R.;
- Malaquias, Alexsandra C.;
- Correa, Fernanda A.;
- Arnhold, Ivo J. P.;
- Rosenberg, Carla;
- Jorge, Alexander A. L.
Publication type:
Article
Delayed Puberty Phenotype Observed in Noonan Syndrome Is More Pronounced in Girls than Boys.
Published in:
Hormone Research in Paediatrics, 2022, v. 95, n. 1, p. 51, doi. 10.1159/000522670
By:
- Rezende, 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.
Publication type:
Article
Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature.
Published in:
Hormone Research in Paediatrics, 2019, v. 92, n. 2, p. 115, doi. 10.1159/000503782
By:
- Homma, 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.
Publication type:
Article
Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome.
Published in:
Hormone Research in Paediatrics, 2019, v. 91, n. 4, p. 252, doi. 10.1159/000500264
By:
- Malaquias, 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.
Publication type:
Article
Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause.
Published in:
Hormone Research in Paediatrics, 2018, v. 89, n. 1, p. 13, doi. 10.1159/000481777
By:
- Homma, Thais K.;
- Krepischi, Ana C.V.;
- Furuya, Tatiane K.;
- Honjo, Rachel S.;
- Malaquias, Alexsandra C.;
- Bertola, Debora R.;
- Costa, Silvia S.;
- Canton, Ana P.;
- Roela, Rosimeire A.;
- Freire, Bruna L.;
- Kim, Chong A.;
- Rosenberg, Carla;
- Jorge, Alexander A.L.
Publication type:
Article
The Sitting Height/Height Ratio for Age in Healthy and Short Individuals and Its Potential Role in Selecting Short Children for SHOX Analysis.
Published in:
Hormone Research in Paediatrics, 2014, v. 80, n. 6, p. 449, doi. 10.1159/000355411
By:
- Malaquias, 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.
Publication type:
Article
Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature.
Published in:
2019
By:
- Freire, Bruna L;
- Homma, Thais K;
- Funari, Mariana F A;
- Lerario, Antônio M;
- Vasques, Gabriela A;
- Malaquias, Alexsandra C;
- Arnhold, Ivo J P;
- Jorge, Alexander A L
Publication type:
journal article
Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients.
Published in:
Clinical Endocrinology, 2008, v. 69, n. 3, p. 426, doi. 10.1111/j.1365-2265.2008.03234.x
By:
- Ferreira, Lize V.;
- Souza, Silvia C. A. L.;
- Montenegro, Luciana R.;
- Malaquias, Alexsandra C.;
- Arnhold, Ivo J. P.;
- Mendonca, Berenice B.;
- Jorge, Alexander A. L.
Publication type:
Article

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