|Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome|
GL Yamamoto, M Aguena, M Gos, C Hung, J Pilch, S Fahiminiya, ...
Journal of medical genetics 52 (6), 413-421, 2015
|A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G)|
NM Vieira, MS Naslavsky, L Licinio, F Kok, D Schlesinger, M Vainzof, ...
Human molecular genetics 23 (15), 4103-4110, 2014
|Exomic variants of an elderly cohort of Brazilians in the ABraOM database|
MS Naslavsky, GL Yamamoto, TF de Almeida, SAM Ezquina, DY Sunaga, ...
Human mutation 38 (7), 751-763, 2017
|Factors associated with lower gait speed among the elderly living in a developing country: a cross-sectional population-based study|
T de Almeida Busch, YA Duarte, DP Nunes, ML Lebrão, MS Naslavsky, ...
BMC geriatrics 15 (1), 35, 2015
|Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility|
RA Toledo, R Hatakana, DM Lourenço Jr, SC Lindsey, CP Camacho, ...
Endocrine-related cancer 22 (1), 65, 2015
|African ancestry protects against Alzheimer's disease-related neuropathology|
D Schlesinger, LT Grinberg, JG Alba, MS Naslavsky, L Licinio, JM Farfel, ...
Molecular psychiatry 18 (1), 79, 2013
|Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells|
LC Caires-Júnior, E Goulart, US Melo, BHS Araujo, L Alvizi, ...
Nature communications 9 (1), 475, 2018
|Rare variants in the epithelial cadherin gene underlying the genetic etiology of nonsyndromic cleft lip with or without cleft palate|
LA Brito, GL Yamamoto, S Melo, C Malcher, SG Ferreira, J Figueiredo, ...
Human mutation 36 (11), 1029-1033, 2015
|Neuropathological diagnoses and clinical correlates in older adults in Brazil: A cross-sectional study|
CK Suemoto, REL Ferretti-Rebustini, RD Rodriguez, REP Leite, L Soterio, ...
PLoS medicine 14 (3), e1002267, 2017
|Chronic traumatic encephalopathy presenting as Alzheimer’s disease in a retired soccer player|
LT Grinberg, R Anghinah, CF Nascimento, E Amaro Jr, RP Leite, ...
Journal of Alzheimer's disease 54 (1), 169-174, 2016
|The sound of silence: human β-defensin-1 gene untranslated SNPs change the predicted mRNA secondary structure in a length-dependent manner|
MS Naslavsky, S Crovella, JL Lima Filho, CRC Rocha
Immunology letters 129 (1), 53-55, 2010
|Association between the p27 rs2066827 variant and tumor multiplicity in patients harboring MEN1 germline mutations|
VC Longuini, DM Lourenço, T Sekiya, O Meirelles, TD Goncalves, ...
European journal of endocrinology 171 (3), 335-342, 2014
|Diabetes is not associated with Alzheimer’s disease neuropathology|
MNP dos Santos Matioli, CK Suemoto, RD Rodriguez, DS Farias, ...
Journal of Alzheimer's Disease 60 (3), 1035-1043, 2017
|Schinzel–Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features|
E Carvalho, R Honjo, M Magalhaes, G Yamamoto, K Rocha, M Naslavsky, ...
American Journal of Medical Genetics Part A 167 (5), 1039-1046, 2015
|p27 variant and corticotropinoma susceptibility: a genetic and in vitro study|
T Sekiya, MD Bronstein, K Benfini, VC Longuini, RS Jallad, MC Machado, ...
Endocrine-related cancer 21 (3), 395-404, 2014
|IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy|
GA Vasques, MFA Funari, FM Ferreira, M Aza-Carmona, ...
The Journal of Clinical Endocrinology & Metabolism 103 (2), 604-614, 2017
|Functional polymorphisms of DEFB1 gene in type 1 diabetes Brazilian children|
RL Guimarães, L Segat, CRC Rocha, LAC Brandao, V Zanin, J Araujo, ...
Autoimmunity 42 (5), 406-413, 2009
|Predicting alternative candidates as binding sites to DEFB1 668 (-44) SNP: a long way from statistical association with multifactorial diseases|
MS Naslavsky, CR Rocha, JL Lima Filho, S Crovella
Elsevier BV: PO Box 211, 1000 AE Amsterdam Netherlands: 011 31 20 4853757 …, 2009
|Detection of small copy number variations (CNVs) in autism spectrum disorder (ASD) by custom array comparative genomic hybridization (aCGH)|
ES Moreira, IMW Silva, N Lourenço, DP Moreira, CM Ribeiro, ALB Martins, ...
Research in Autism Spectrum Disorders 23, 145-151, 2016
|Does germ-line deletion of the PIP gene constitute a widespread risk for cancer?|
AG Silva, ACV Krepischi, GT Torrezan, LP Capelli, DM Carraro, ...
European Journal of Human Genetics 22 (3), 307, 2014