Copy Number Variants in Obesity-Related Syndromes: Review and Perspectives on Novel Molecular Approaches

por D'Angelo, Carla Sustek, Koiffmann, Celia Priszkulnik
Publicado 2012

Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using...

por D’Angelo, Carla S, Varela, Monica C, de Castro, Cláudia IE, Kim, Chong A, Bertola, Débora R, Lourenço, Charles M, Perez, Ana Beatriz A, Koiffmann, Celia P
Publicado 2014

Accurate, Fast and Cost-Effective Diagnostic Test for Monosomy 1p36 Using Real-Time Quantitative PCR

por Cunha, Pricila da Silva, Pena, Heloisa B., D'Angelo, Carla Sustek, Koiffmann, Celia P., Rosenfeld, Jill A., Shaffer, Lisa G., Stofanko, Martin, Gonçalves-Dornelas, Higgor, Pena, Sérgio Danilo Junho
Publicado 2014

Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity

por D’Angelo, Carla Sustek, Varela, Monica Castro, de Castro, Claudia Irene Emílio, Otto, Paulo Alberto, Perez, Ana Beatriz Alvarez, Lourenço, Charles Marques, Kim, Chong Ae, Bertola, Debora Romeo, Kok, Fernando, Garcia-Alonso, Luis, Koiffmann, Celia Priszkulnik
Publicado 2018

Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations

por D'Angelo, Carla S., Hermes, Azure, McMaster, Christopher R., Prichep, Elissa, Richer, Étienne, van der Westhuizen, Francois H., Repetto, Gabriela M., Mengchun, Gong, Malherbe, Helen, Reichardt, Juergen K. V., Arbour, Laura, Hudson, Maui, du Plessis, Kelly, Haendel, Melissa, Wilcox, Phillip, Lynch, Sally Ann, Rind, Shamir, Easteal, Simon, Estivill, Xavier, Thomas, Yarlalu, Baynam, Gareth
Publicado 2020