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SIN3A Defects Associated with Syndromic Congenital Hypogonadotropic Hypogonadism: An Overlap with Witteveen-Kolk Syndrome.
Published in:
Neuroendocrinology, 2023, v. 113, n. 8, p. 834, doi. 10.1159/000529615
By:
- Schnöll, Caroline;
- Krepischi, Ana Cristina Victorino;
- Renck, Alessandra Covallero;
- Amato, Lorena Guimaraes Lima;
- Kulikowski, Leslie Domenici;
- Dantas, Naiara Castelo Branco;
- Costa, Elaine Maria Frade;
- Mendonca, Berenice Bilharinho;
- Latronico, Ana Claudia;
- Jorge, Alexander Augusto de Lima;
- Silveira, Leticia Ferreira Gontijo
Publication type:
Article
High frequency of genetic/epigenetic disorders in short stature children born with very low birth weight.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2599, doi. 10.1002/ajmg.a.62892
By:
- Freire, Bruna Lucheze;
- Homma, Thais Kataoka;
- Lerario, Antônio Marcondes;
- Seo, Go Hun;
- Han, Heonjong;
- de Assis Funari, Mariana Ferreira;
- Gomes, Nathalia Lisboa;
- Rosemberg, Carla;
- Krepischi, Ana Cristina Victorino;
- de Andrade Vasques, Gabriela;
- Malaquias, Alexsandra Christianne;
- de Lima Jorge, Alexander Augusto
Publication type:
Article
Development of a Minimum Dataset for the Monitoring of Recombinant Human Growth Hormone Therapy in Children with Growth Hormone Deficiency: A GloBE-Reg Initiative.
Published in:
Hormone Research in Paediatrics, 2024, v. 97, n. 4, p. 365, doi. 10.1159/000533763
By:
- Chen, Suet Ching;
- Bryce, Jillian;
- Chen, Minglu;
- Charmandari, Evangelia;
- Choi, Jin-Ho;
- Dou, Xinyu;
- Gong, Chunxiu;
- Hamza, Rasha;
- Harvey, Jamie;
- Hoffman, Andrew R.;
- Horikawa, Reiko;
- Johannson, Gudmundur;
- Jorge, Alexander Augusto de Lima;
- Miller, Bradley S.;
- Roehrich, Sebastian;
- Sävendahl, Lars;
- Tseretopoulou, Xanthippi;
- Vitali, Diana;
- Wajnrajch, Michael;
- Ahmed, S.Faisal
Publication type:
Article
Sorafenib for the Treatment of Progressive Metastatic Medullary Thyroid Cancer: Efficacy and Safety Analysis.
Published in:
Thyroid, 2016, v. 26, n. 3, p. 414, doi. 10.1089/thy.2015.0334
By:
- de Castroneves, Luciana Audi;
- Negrão, Marcelo Vailati;
- de Freitas, Ricardo Miguel Costa;
- Papadia, Carla;
- Lima, José Viana;
- Fukushima, Julia T.;
- Simão, Eduardo Furquim;
- Kulcsar, Marco Aurélio Vamondes;
- Tavares, Marcos Roberto;
- Jorge, Alexander Augusto de Lima;
- de Castro, Gilberto;
- Hoff, Paulo Marcelo;
- Hoff, Ana Oliveira
Publication type:
Article
Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature.
Published in:
Journal of Autism & Developmental Disorders, 2024, v. 54, n. 3, p. 1181, doi. 10.1007/s10803-022-05853-z
By:
- Tolezano, Giovanna Cantini;
- Bastos, Giovanna Civitate;
- da Costa, Silvia Souza;
- Freire, Bruna Lucheze;
- Homma, Thais Kataoka;
- Honjo, Rachel Sayuri;
- Yamamoto, Guilherme Lopes;
- Passos-Bueno, Maria Rita;
- Koiffmann, Celia Priszkulnik;
- Kim, Chong Ae;
- Vianna-Morgante, Angela Maria;
- de Lima Jorge, Alexander Augusto;
- Bertola, Débora Romeo;
- Rosenberg, Carla;
- Krepischi, Ana Cristina Victorino
Publication type:
Article
High Prevalence of Pituitary Magnetic Resonance Abnormalities and Gene Mutations in a Cohort of Brazilian Children with Growth Hormone Deficiency and Response to Treatment.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2008, v. 21, n. 7, p. 673
By:
- Marcondes Rocha, Manuela Giuliani;
- Marchisotti, Frederico Guimarães;
- Farah Osorio, Maria Geralda;
- Marui, Suemi;
- Silveira Carvalho, Luciani Renata;
- de Lima Jorge, Alexander Augusto;
- Mendonca, Berenice Bilharinho;
- Prado Arnhold, Ivo Jorge
Publication type:
Article
Genetic investigation of patients with tall stature.
Published in:
European Journal of Endocrinology, 2020, v. 182, n. 2, p. 139, doi. 10.1530/EJE-19-0785
By:
- de Albuquerque Albuquerque, Edoarda Vasco;
- de Assis Funari, Mariana Ferreira;
- de Souza Quedas, Elisângela Pereira;
- Kawahira, Rachel Sayuri Honjo;
- Jallad, Raquel Soares;
- Homma, Thaís Kataoka;
- Martin, Regina Matsunaga;
- Brito, Vinicius Nahime;
- Malaquias, Alexsandra Christianne;
- Lerario, Antonio Marcondes;
- Rosenberg, Carla;
- Krepischi, Ana Cristina Victorino;
- Chong Ae Kim;
- Arnhold, Ivo Jorge Prado;
- de Lima Jorge, Alexander Augusto
Publication type:
Article
Insights from the genetic characterization of central precocious puberty associated with multiple anomalies.
Published in:
2021
By:
- Canton, Ana Pinheiro Machado;
- Krepischi, Ana Cristina Victorino;
- Montenegro, Luciana Ribeiro;
- Costa, Silvia;
- Rosenberg, Carla;
- Steunou, Virginie;
- Sobrier, Marie-Laure;
- Santana, Lucas;
- Honjo, Rachel Sayuri;
- Kim, Chong Ae;
- Zegher, Francis de;
- Idkowiak, Jan;
- Gilligan, Lorna C;
- Arlt, Wiebke;
- Funari, Mariana Ferreira de Assis;
- Jorge, Alexander Augusto de Lima;
- Mendonca, Berenice Bilharinho;
- Netchine, Irène;
- Brito, Vinicius Nahime;
- Latronico, Ana Claudia
Publication type:
journal article
Homozygous and Heterozygous Nuclear Lamin A p.R582C Mutation: Different Lipodystrophic Phenotypes in the Same Kindred.
Published in:
Frontiers in Endocrinology, 2018, p. N.PAG, doi. 10.3389/fendo.2018.00458
By:
- Montenegro, Renan Magalhães;
- Costa-Riquetto, Aline Dantas;
- Fernandes, Virgínia Oliveira;
- Montenegro, Ana Paula Dias Rangel;
- Santana, Lucas Santos de;
- Jorge, Alexander Augusto de Lima;
- Karbage, Lia Beatriz de Azevedo Souza;
- Aguiar, Lindenberg Barbosa;
- Carvalho, Francisco Herlânio Costa;
- Teles, Milena Gurgel;
- d'Alva, Catarina Brasil
Publication type:
Article
Oncogenic mutations in KEAP1 disturbing inhibitory Nrf2‐Keap1 interaction: Activation of antioxidative pathway in papillary thyroid carcinoma.
Published in:
Head & Neck, 2018, v. 40, n. 6, p. 1271, doi. 10.1002/hed.25105
By:
- Danilovic, Debora Lucia Seguro;
- de Mello, Evandro Sobroza;
- Frazzato, Eliana Salgado Turri;
- Wakamatsu, Alda;
- de Lima Jorge, Alexander Augusto;
- Hoff, Ana Oliveira;
- Marui, Suemi
Publication type:
Article
Comparison of 68Ga PET/CT to Other Imaging Studies in Medullary Thyroid Cancer: Superiority in Detecting Bone Metastases.
Published in:
2018
By:
- Castroneves, Luciana Audi;
- Coura Filho, George;
- de Freitas, Ricardo Miguel Costa;
- Salles, Raphael;
- Moyses, Raquel Ajub;
- Lopez, Rossana Veronica Mendoza;
- Pereira, Maria Adelaide Albergaria;
- Tavares, Marcos Roberto;
- Jorge, Alexsander Augusto de Lima;
- Buchpiguel, Carlos Alberto;
- Hoff, Ana Oliveira;
- Jorge, Alexander Augusto de Lima
Publication type:
journal article
Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum.
Published in:
Genes, 2021, v. 12, n. 8, p. 1128, doi. 10.3390/genes12081128
By:
- Nakaguma, Marilena;
- Ferreira, Nathalia Garcia Bianchi Pereira;
- Benedetti, Anna Flavia Figueredo;
- Madi, Mariana Cotarelli;
- Silva, Juliana Moreira;
- Li, Jun Z.;
- Ma, Qianyi;
- Bilge Ozel, Ayse;
- Fang, Qing;
- Narcizo, Amanda de Moraes;
- Cardoso, Laís Cavalca;
- Montenegro, Luciana Ribeiro;
- Funari, Mariana Ferreira de Assis;
- Nishi, Mirian Yumie;
- Arnhold, Ivo Jorge Prado;
- Jorge, Alexander Augusto de Lima;
- Mendonca, Berenice Bilharinho de;
- Camper, Sally Ann;
- Carvalho, Luciani R.
Publication type:
Article
Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders.
Published in:
Molecular Neurobiology, 2024, v. 61, n. 8, p. 5230, doi. 10.1007/s12035-023-03894-8
By:
- Tolezano, Giovanna Cantini;
- Bastos, Giovanna Civitate;
- da Costa, Silvia Souza;
- Scliar, Marília de Oliveira;
- de Souza, Carolina Fischinger Moura;
- Van Der Linden Jr, Hélio;
- Fernandes, Walter Luiz Magalhães;
- Otto, Paulo Alberto;
- Vianna-Morgante, Angela M.;
- Haddad, Luciana Amaral;
- Honjo, Rachel Sayuri;
- Yamamoto, Guilherme Lopes;
- Kim, Chong Ae;
- Rosenberg, Carla;
- Jorge, Alexander Augusto de Lima;
- Bertola, Débora Romeo;
- Krepischi, Ana Cristina Victorino
Publication type:
Article

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