A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect

Autor: De Molfetta Greice Andreotti, Felix Temis Maria, Riegel Mariluce, Ferraz Victor Evangelista de Faria, Pina Neto João Monteiro de

Publikováno v: Arquivos de Neuro-Psiquiatria, Vol 60, Iss 4, Pp 1011-1014 (2002)

Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are distinct human neurogenetic disorders; however, a clinical overlap between AS and PWS has been identified. We report on a further case of a patient showing the PWS phenotype with the AS molec

Externí odkaz: https://doaj.org/article/2d515097dd854cef8b60d18c6bd79d74

A child with cat-eye syndrome and oculo-auriculo-vertebral spectrum phenotype: A discussion around molecular cytogenetic findings

Autor: Glaeser, Andressa Barreto, Diniz, Bruna Lixinski, Santos, Andressa Schneiders, Guaraná, Bruna Baierle, Muniz, Victória Feitosa, Carlotto, Bianca Soares, Everling, Eduardo Morais, Noguchi, Patrícia Yuri, Garcia, Aline Ramos, Miola, Juliana, Riegel, Mariluce, Mergener, Rafaella, Gazzola Zen, Paulo Ricardo, Machado Rosa, Rafael Fabiano

Publikováno v: In European Journal of Medical Genetics November 2021 64(11)

Intellectual Disability in a Birth Cohort : Prevalence, Etiology, and Determinants at the Age of 4 Years

Autor: Karam, Simone M., Barros, Aluísio J.D., Matijasevich, Alícia, dos Santos, Iná S., Anselmi, Luciana, Barros, Fernando, Leistner-Segal, Sandra, Félix, Têmis M., Riegel, Mariluce, Maluf, Sharbel W., Giugliani, Roberto, Black, Maureen M.

Publikováno v: Public Health Genomics, 2016 Jan 01. 19(5), 290-297.

Externí odkaz: https://www.jstor.org/stable/26778266

TRISSOMIA DE PARTE DO BRAÇO LONGO DO CROMOSSOMO 6 COM INSERÇÃO EM 14Q EM PACIENTE COM RETARDO MENTAL LEVE E DISMORFIAS

Autor: W. Maluf, Sharbel, Pires, Ricardo, B. Trombetta, Gisele, Dorfman, Luiza, Contini, Verônica, Arruda, Luís, Riegel, Mariluce

Publikováno v: Clinical & Biomedical Research; Vol. 22 No. 3 (2002): Revista HCPA
Clinical and Biomedical Research; v. 22 n. 3 (2002): Revista HCPA
Clinical and Biomedical Research
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS

This article presents the case of a male patient who presented mild mental retardation, clinodactyly, camptodactyly, abnormal pattern of the hand skinfolds and cleft palate. In addition to the clinical examination, conventional cytogenetic techniques

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::55a0050447aefb6926919098d53ca222
https://seer.ufrgs.br/index.php/hcpa/article/view/126173

Network-based analysis using chromosomal microdeletion syndromes as a model

Autor: Corrêa, Thiago, Feltes, Bruno César, Schinzel, Albert, Riegel, Mariluce

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______885::9a7e58d2d459ab8fd2c4e2142e27893d
https://doi.org/10.5167/uzh-204423