Understanding the Landscape of X-linked Variants Causing Intellectual Disability in Females Through Extreme X Chromosome Inactivation Skewing

Authors: Vianna, Evelyn Quintanilha, Piergiorge, Rafael Mina, Gonçalves, Andressa Pereira, dos Santos, Jussara Mendonça, Calassara, Veluma, Rosenberg, Carla, Krepischi, Ana Cristina Victorino, Boy da Silva, Raquel Tavares, dos Santos, Suely Rodrigues, Ribeiro, Márcia Gonçalves, Machado, Filipe Brum, Medina-Acosta, Enrique, Pimentel, Márcia Mattos Gonçalves, Santos-Rebouças, Cíntia Barros

Source: Molecular neurobiology. 57(9):3671-3684

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100172089391.0x000001&indx=1&recIds=ETOCvdc_100172089391.0x000001

Clinical profiles associated with LRRK2 and GBA mutations in Brazilians with Parkinson's disease

Authors: da Silva, Camilla P., de M. Abreu, Gabriella, Cabello Acero, Pedro H., Campos, Mário, Júnior, Pereira, João S., de A. Ramos, Sarah R., Nascimento, Caroline M., Voigt, Danielle D., Rosso, Ana Lucia, Araujo Leite, Marco A., Vasconcellos, Luiz Felipe R., Nicaretta, Denise H., Della Coletta, Marcus V., da Silva, Delson José, Gonçalves, Andressa P., dos Santos, Jussara M., Calassara, Veluma, Valença, Débora Cristina T., de M. Martins, Cyro J., Santos-Rebouças, Cíntia B., Pimentel, Márcia M.G.

Source: In Journal of the Neurological Sciences 15 October 2017 381:160-164

CHCHD2 mutational screening in Brazilian patients with familial Parkinson's disease

Authors: Voigt, Danielle D., Nascimento, Caroline M., de Souza, Ritiele B., Cabello Acero, Pedro H., Campos Júnior, Mário, da Silva, Camilla P., Pereira, João S., Rosso, Ana Lucia, Araujo Leite, Marco A., Vasconcellos, Luiz Felipe R., Della Coletta, Marcus V., da Silva, Delson J., Nicaretta, Denise H., Gonçalves, Andressa P., dos Santos, Jussara M., Calassara, Veluma, Santos-Rebouças, Cíntia B., Pimentel, Márcia M.G.

Source: NEUROBIOLOGY OF AGING. 74:236.e7-236.e8

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100074478290.0x000001&indx=1&recIds=ETOCvdc_100074478290.0x000001

Skewed X-Chromosome Inactivation and Compensatory Upregulation of Escape Genes Precludes Major Clinical Symptoms in a Female With a Large Xq Deletion.

Authors: Santos-Rebouças, Cíntia B., Boy, Raquel, Vianna, Evelyn Q., Gonçalves, Andressa P., Piergiorge, Rafael M., Abdala, Bianca B., dos Santos, Jussara M., Calassara, Veluma, Machado, Filipe B., Medina-Acosta, Enrique, Pimentel, Márcia M. G.

Source: Frontiers in Genetics; 3/4/2020, p1-10, 76p

Subject Terms: FRAGILE X syndrome, X chromosome, DELETION mutation, MICROSATELLITE repeats, ANDROGEN receptors, ESCAPES, ORAL mucosa