Alexander Augusto de Lima Jorge
Universidade de São Paulo
H-index: 45
Latin America-Brazil
Top articles of Alexander Augusto de Lima Jorge
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Burden of rare copy number variants in microcephaly: A brazilian cohort of 185 microcephalic patients and review of the literature | Giovanna Cantini Tolezano Giovanna Civitate Bastos Silvia Souza da Costa Bruna Lucheze Freire Thais Kataoka Homma | 2022/12/11 | |
Exome Sequencing Identifies Multiple Genetic Diagnoses in Children with Syndromic Growth Disorders | The Journal of Pediatrics | Raissa Carneiro Rezende Nathalia Liberatoscioli Menezes de Andrade Naiara Castelo Branco Dantas Laurana de Polli Cellin Ana Cristina Victorino Krepischi | 2024/2/1 |
A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis | Laura Machado Lara Carvalho Alexander Augusto de Lima Jorge Débora Romeo Bertola Ana Cristina Victorino Krepischi Carla Rosenberg | 2024/1/26 | |
Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders | Molecular Neurobiology | Giovanna Cantini Tolezano Giovanna Civitate Bastos Silvia Souza da Costa Marília de Oliveira Scliar Carolina Fischinger Moura de Souza | 2024/1/5 |
Not Only RET but NF1 and Chromosomal Instability Are Seen in Young Patients with Sporadic Medullary Thyroid Carcinoma | Journal of the Endocrine Society | Luciana Audi Castroneves Flavia Regina Rotea Mangone Antonio Marcondes Lerario Ana Maria da Cunha Mercante Rafael Loch Batista | 2024/6 |
Enhancing diagnostic yield of monogenic diabetes through phenotypic and molecular reanalysis of 128 individuals with young onset hyperglycemia: highlighting the significance of … | Milena Teles Augusto Santomauro Junior Aline Costa-Riquetto Larissa Gomes Lucas De Santana | 2024/3/12 | |
Avaliação do crescimento | Luciana Pinto Brito Durval Damiani Alexander Augusto de Lima Jorge | 2023 | |
IDENTIFICATION OF NEW GENETIC MODIFIERS OF THE PHENOTYPE IN SHOX HAPLOINSUFFICIENCY | NCB Dantas MF Funari NLM Andrade RC Rezende LP Cellin | 2023 | |
THU235 Usefulness Of Digital Droplet Polymerase Chain Reaction (ddPCR) For Molecular Diagnosis Of McCune-Albright Syndrome In DNA From Peripheral Blood Leukocytes | Journal of the Endocrine Society | Aline Guimarães de Faria Luciana Ribeiro Montenegro Alexander Augusto Lima Jorge Raquel Soares Jallad Regina Matsunaga Martin | 2023/10 |
Potentially pathogenic variants identified by next-generation sequencing in patients with short stature of unknown origin | IMPE Abstracts | Nora Sanguineti Paula Scaglia Ana Keselman Débora Braslavsky Bárbara Casali | 2023/2/14 |
Diagnosis of TBC1D32‐associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy | Sarah C Harris Karen Chong David Chitayat Kelly L Gilmore Alexander AL Jorge | 2023/5 | |
SIN3A defects associated with syndromic congenital hypogonadotropic hypogonadism: an overlap with Witteveen-Kolk syndrome | Neuroendocrinology | Caroline Schnöll Ana Cristina Victorino Krepischi Alessandra Covallero Renck Lorena Guimaraes Lima Amato Leslie Domenici Kulikowski | 2023/7/24 |
Two new patients with acromesomelic dysplasia, PRKG2 type—identification and characterization of the first missense variant | European Journal of Human Genetics | Ozlem Akgun-Dogan Francisca Díaz-González Alexander Augusto de Lima Jorge Neslihan Onenli-Mungan Nathalia Liberatoscioli Menezes Andrade | 2023/10/4 |
COMPLETE GROWTH HORMONE GENE (GH1) DELETION IDENTIFIED BY WHOLE EXOME SEQUENCING (WES) DURING THE INVESTIGATION OF SHORT STATURE | LP CELLIN RC REZENDE V SOUZA NLM ANDRADE NCB DANTAS | 2023 | |
Idiopathic short stature: what to expect from genomic investigations | Nathalia Liberatoscioli Menezes Andrade Laurana Polli Cellin Raissa Carneiro Rezende Gabriela Andrade Vasques Alexander Augusto Lima Jorge | 2023/1/9 | |
THU160 A Prospective Genetic Analysis Of Children With Idiopathic Short Stature (ISS) Using Whole-exome Sequencing (WES): First Results | Journal of the Endocrine Society | Laurana de Polli Cellin Nathalia Liberatoscioli Menezes De Andrade Raíssa Carneiro Rezende Raíssa Rezende Vinicius Souza | 2023/10 |
Clinical and genetic evaluation of children with syndromic short stature | IMPE Abstracts | Alexander Jorge | 2023/2/14 |
OR21-02 Diagnostic Yield Of A Multigene Approach In Children With Short Stature Of Unknown Cause | Journal of the Endocrine Society | Nathalia Liberatoscioli Menezes De Andrade Mariana Ferreira de Assis Funari Alexsandra Malaquias Naiara Castelo Branco Dantas Raissa Rezende | 2023/10 |
Homozygous CDH2 variant may be associated with hypopituitarism without neurological disorders | Endocrine Connections | Nathalia GBP Ferreira Joao LO Madeira Peter Gergics Renata Kertsz Juliana M Marques | 2023/7/5 |
GROWTH HORMONE (GH) THERAPY IN SHORT CHILDREN WITH SKELETAL DYSPLASIAS AND PATHOGENIC VARIANTS IN THE COL2A1 GENE | LP CELLIN KG GUIMARAES NLM ANDRADE GA VASQUES EO GOIANO | 2023 |
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