A. P. Gonçalves

发表

Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome.

D. Pehlivan, L. Gusmão, C. Rosenberg, 2021, European journal of medical genetics.

Co-occurrence of sporadic parkinsonism and late-onset Alzheimer's disease in a Brazilian male with the LRRK2 p.G2019S mutation.

J. Laks, C. Santos-Rebouças, M. M. Pimentel, 2008, Genetic testing.

KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature.

C. Santos-Rebouças, M. M. Pimentel, A. P. Gonçalves, 2014, European journal of medical genetics.

De novo unbalanced translocations have a complex history/aetiology

N. Tommerup, C. Sismani, J. Nevado, 2018, Human Genetics.

Autosomal dominant Parkinson’s disease: Incidence of mutations in LRRK2, SNCA, VPS35 and GBA genes in Brazil

M. Leite, L. Vasconcellos, Delson J. Silva, 2016, Neuroscience Letters.

A de novo YY1 missense variant expanding the Gabriele-de Vries syndrome phenotype and affecting X-chromosome inactivation

C. Santos-Rebouças, M. M. Pimentel, B. B. Abdala, 2022, Metabolic Brain Disease.

Novel microduplications at Xp11.22 including HUWE1: clinical and molecular insights into these genomic rearrangements associated with intellectual disability

Jussara Mendonça dos Santos, M. Ribeiro, E. Medina-Acosta, 2015, Journal of Human Genetics.

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

M. Ribeiro, C. Rosenberg, E. Medina-Acosta, 2020, Molecular Neurobiology.

Finding FMR1 mosaicism in Fragile X syndrome

F. Tassone, M. Ribeiro, C. Santos-Rebouças, 2016, Expert review of molecular diagnostics.

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

E. Medina-Acosta, C. Santos-Rebouças, M. M. Pimentel, 2020, Frontiers in Genetics.

Influence of low frequency PSEN1 variants on familial Alzheimer’s disease risk in Brazil

Jussara Mendonça dos Santos, J. Laks, C. Santos-Rebouças, 2017, Neuroscience Letters.

A novel Xp11.22 duplication involving HUWE1 in a male with syndromic intellectual disability and additional neurological findings.

C. Santos-Rebouças, M. M. Pimentel, B. B. Abdala, 2023, European journal of medical genetics.

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

M. Leite, L. Vasconcellos, Delson J. Silva, 2017, Journal of the Neurological Sciences.

rs3851179 Polymorphism at 5′ to the PICALM Gene is Associated with Alzheimer and Parkinson Diseases in Brazilian Population

Jussara Mendonça dos Santos, J. Laks, C. Santos-Rebouças, 2017, NeuroMolecular Medicine.

De novo unbalanced translocations have a complex history/aetiology

N. Tommerup, C. Sismani, J. Nevado, 2018, Human Genetics.

Identification of a novel epigenetic marker for typical and mosaic presentations of Fragile X syndrome

E. Medina-Acosta, C. Santos-Rebouças, A. P. Gonçalves, 2023, Expert review of molecular diagnostics.