S. Santos

Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith–Magenis syndrome

Lei Cao, A. Srivastava, K. Walz, 2011, European Journal of Human Genetics.

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.

Clinical characteristics of alopecia areata in Down syndrome.

M. Ribeiro, M. Geller, M. Coutinho, 2013, Acta dermatovenerologica Croatica : ADC.

Immunological Profile of Patients Presenting Down Syndrome and Alopecia Areata

M. Ribeiro, M. Geller, M. Coutinho, 2015 .

Haplotype analysis of the CAG and CCG repeats in 21 Brazilian families with Huntington’s disease

P. Cabello, E. Medina-Acosta, R. Alvarenga, 2012, Journal of Human Genetics.

Monosomy 1 p 36 syndrome : reviewing the correlation between deletion sizes and phenotypes

S. Santos, C. Rocha, C. Paiva, 2016 .

[Atipical form of Mayer-Rokitansky-Kuster-Hauser syndrome with renal malformation and skeletal abnormalities (MURCS association)].

D. Monteiro, M. Pires, S. Santos, 2012, Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia.

Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements.

P. Marynen, T. Bose, M. Roselló, 2012, American journal of human genetics.

Mini-Review: Monosomy 1p36 syndrome: reviewing the correlation between deletion sizes and phenotypes.

S. Santos, C. Rocha, C. Paiva, 2016, Genetics and Molecular Research.

Haplotype analysis of the CAG and CCG repeats in 21 Brazilian families with Huntington's disease This article has been corrected since Advance Online Publication, and an erratum is also printed in this issue.

S. Santos, E. Paradela, C. Rocha, 2012 .