Alexander Augusto de Lima Jorge (Alexander A L Jorge, Jorge A L Alexander)

Scopus Author ID ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2019-2023
Publications (10 Years): 16

Top Venues

American journal of medical genetics. Part A

Clinics (Sao Paulo, Brazil)

Genetics and molecular biology

Genes

Universidade de São Paulo Faculdade de Medicina

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Universidade de São Paulo Faculdade de Medicina Mar 1o 2010

Brazil

Associate Professor of Medicine :: Internal Medicine / Endocrinology division

Publications

Sarah C Harris, Karen Chong, David Chitayat, Kelly L Gilmore, Alexander Augusto de Lima Jorge, Bruna L Freire, Antonio Marcondes Lerario, Patrick Shannon, Heidi Cope, William B Gallentine, Gwenal Le Guyader, Frederic Bilan, Pascaline Létard, Erica E Davis, Neeta L Vora
Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy. American journal of medical genetics. Part A (2023)
Özlem Akgün Doğan, Francisca Díaz-González, Alexander Augusto de Lima Jorge, Neslihan Onenli-Mungan, Nathalia Liberatoscioli Menezes Andrade, Laurana de Polli Cellin, Serdar Ceylaner, Maria Barcellos Rosa Modkovski, Yasemin Alanay, Karen E Heath
Two new patients with acromesomelic dysplasia, PRKG2 type-identification and characterization of the first missense variant. European journal of human genetics : EJHG (2023)
Laura Machado Lara Carvalho, Carla Sustek D'Angelo, Darine Villela, Silvia Souza da Costa, Alexander Augusto de Lima Jorge, Israel Tojal da Silva, Marília de Oliveira Scliar, Luiza Dias Chaves, Ana Cristina Victorino Krepischi, Celia Priszkulnik Koiffmann, Carla Rosenberg
Genetic investigation of syndromic forms of obesity. International journal of obesity (2005) 46 (9) (2022)
Bruna Lucheze Freire, Thais Kataoka Homma, Antônio Marcondes Lerario, Go Hun Seo, Heonjong Han, Mariana Ferreira de Assis Funari, Nathalia Lisboa Gomes, Carla Rosemberg, Ana Cristina Victorino Krepischi, Gabriela de Andrade Vasques, Alexsandra Christianne Malaquias, Alexander Augusto de Lima Jorge
High frequency of genetic/epigenetic disorders in short stature children born with very low birth weight. American journal of medical genetics. Part A 188 (9) (2022)
Raiane P Crespo, Thais P Rocha, Luciana R Montenegro, Mirian Yumie Nishi, Alexander Augusto de Lima Jorge, Gustavo Arantes Rosa Maciel, Edmund Chada Baracat, Ana Claudia L Xavier, Berenice Bilharinho de Mendonca, Larissa G Gomes
High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort. Journal of the Endocrine Society 6 (9) (2022)
Nathalia Liberatoscioli Menezes Andrade, Mariana Ferreira de Assis Funari, Alexsandra Christianne Malaquias, Paulo Ferrez Collett-Solberg, Nathalia L R A Gomes, Renata Scalco, Naiara Castelo Branco Dantas, Raissa C Rezende, Angelica M F P Tiburcio, Micheline A R Souza, Bruna L Freire, Ana C V Krepischi, Carlos Alberto Longui, Antonio Marcondes Lerario, Ivo J P Arnhold, Alexander Augusto de Lima Jorge, Gabriela Andrade Vasques
Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature. Endocrine connections 11 (12) (2022)
Luciana R Montenegro, Antonio Marcondes Lerario, Mirian Yumie Nishi, Alexander Augusto de Lima Jorge, Berenice Bilharinho de Mendonca
Performance of mutation pathogenicity prediction tools on missense variants associated with 46,XY differences of sex development. Clinics (Sao Paulo, Brazil) 76 (2021)
Louise C Gregory, Peter Gergics, Marilena Nakaguma, Hironori Bando, Giuseppa Patti, Mark J McCabe, Frederic Castinetti, Qianyi Ma, Ayse Bilge Ozel, Jun Z Li, Michele Moreira Poina, Alexander Augusto de Lima Jorge, Anna F Figueredo Benedetti, Antonio M Lerario, Ivo J P Arnhold, Berenice Bilharinho de Mendonca, Mohamad Maghnie, Sally Ann Camper, Luciani R S Carvalho, Mehul T Dattani
The phenotypic spectrum associated with OTX2 mutations in humans. European journal of endocrinology 185 (1) (2021)
Marilena Nakaguma, Nathalia Garcia Bianchi Pereira Ferreira, Anna Flavia Figueredo Benedetti, Mariana Cotarelli Madi, Juliana Moreira Silva, Jun Z Li, Qianyi Ma, Ayse Bilge Ozel, Qing Fang, Amanda de Moraes Narcizo, Laís Cavalca Cardoso, Luciana Ribeiro Montenegro, Mariana Ferreira de Assis Funari, Mirian Yumie Nishi, Ivo Jorge Prado Arnhold, Alexander Augusto de Lima Jorge, Berenice Bilharinho de Mendonca, Sally Ann Camper, Luciani R Carvalho
Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum. Genes 12 (8) (2021)
Darine Villela, Patricia C Mazzonetto, Michele P Migliavacca, Eduardo Perrone, Gustavo Guida, Maria Fernanda G Milanezi, Alexander Augusto de Lima Jorge, Lucilene A Ribeiro-Bicudo, Fernando Kok, Francine Campagnari, Liane de Rosso-Giuliani, Silvia Souza da Costa, Angela M Vianna-Morgante, Peter L Pearson, Ana C V Krepischi, Carla Rosenberg
Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses. American journal of medical genetics. Part A 185 (8) (2021)
Thais Ramos Villela, Bruna L Freire, Nathalia T P Braga, Rodrigo R Arantes, Mariana F A Funari, Alexander Augusto de Lima Jorge, Ivani N Silva
Growth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patients. Genetics and molecular biology 42 (4) (2020)
Renata M Noronha, Sandra M F Villares, Natalia Torres, Elisangela P S Quedas, Thais Kataoka Homma, Edoarda V A Albuquerque, Michelle B Moraes, Mariana F A Funari, Debora Romeo Bertola, Alexander Augusto de Lima Jorge, Alexsandra Christianne Malaquias
Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile. American journal of medical genetics. Part A 185 (3) (2020)
Ericka B Trarbach, Giampaolo Trivellin, Isabella Pacetti Pajaro Grande, Felipe Gaia Duarte, Alexander Augusto de Lima Jorge, Felipe Barjud Pereira do Nascimento, Heraldo Mendes Garmes, Marcia Nery, Berenice Bilharinho de Mendonca, Constantine A Stratakis, Marcello Delano Bronstein, Raquel Soares Jallad
Genetics, clinical features and outcomes of non-syndromic pituitary gigantism: experience of a single center from Sao Paulo, Brazil. Pituitary 24 (2) (2020)
Gabriela A Vasques, Nathalia Liberatoscioli Menezes Andrade, Fernanda A Correa, Alexander Augusto de Lima Jorge
Update on new GH-IGF axis genetic defects. Archives of endocrinology and metabolism 63 (6) (2020)
Lucas Santos de Santana, Lilian A Caetano, Aline D Costa-Riquetto, Pedro C Franco, Renata P Dotto, André F Reis, Letícia S Weinert, Sandra P Silveiro, Marcio F Vendramini, Flaviene A do Prado, Giovanna C P Abrahão, Ana Gregória F P de Almeida, Maria da G Rodrigues Tavares, Wagner Rodrigo B Gonçalves, Augusto C Santomauro Junior, Bruno Halpern, Alexander Augusto de Lima Jorge, Marcia Nery, Milena G Teles
Targeted sequencing identifies novel variants in common and rare MODY genes. Molecular genetics & genomic medicine 7 (12) (2019)
Mariana F A Funari, Juliana S de Barros, Lucas S Santana, Antonio M Lerario, Bruna L Freire, Thais K Homma, Gabriela A Vasques, Berenice B Mendonca, Mirian Y Nishi, Alexander Augusto de Lima Jorge
Evaluation of SHOX defects in the era of next-generation sequencing. Clinical genetics 96 (3) (2019)

Alexander Augusto de Lima Jorge.css-eqlu8i{font-size:small;padding-left:4px;} (Alexander A L Jorge, Jorge A L Alexander)

Publication Activity (10 Years)

Top Topics

Top Venues

Alexander Augusto de Lima Jorge (Alexander A L Jorge, Jorge A L Alexander)