Guilherme Lopes Yamamoto
Guilherme Lopes Yamamoto
Médico geneticista do Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da
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Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome
KC Kurek, VL Luks, UM Ayturk, AI Alomari, SJ Fishman, SA Spencer, ...
The American Journal of Human Genetics 90 (6), 1108-1115, 2012
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
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
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), 1-11, 2018
Expansion of CD4+ CD25+ Foxp3+ T cells by bone marrow‐derived dendritic cells
I Marguti, GL Yamamoto, TB da Costa, LV Rizzo, LV de Moraes
Immunology 127 (1), 50-61, 2009
Further evidence of the importance of RIT1 in Noonan syndrome
DR Bertola, GL Yamamoto, TF Almeida, M Buscarilli, AAL Jorge, ...
American journal of medical genetics Part A 164 (11), 2952-2957, 2014
Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome
E Dikoglu, A Alfaiz, M Gorna, D Bertola, JH Chae, TJ Cho, M Derbent, ...
American journal of medical genetics Part A 167 (7), 1501-1509, 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
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
Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy
GL Yamamoto, WAR Baratela, TF Almeida, M Lazar, CL Afonso, ...
The American Journal of Human Genetics 94 (1), 113-119, 2014
Milder course in Duchenne patients with nonsense mutations and no muscle dystrophin
M Zatz, RCM Pavanello, M Lazar, GL Yamamoto, NCV Lourenço, ...
Neuromuscular Disorders 24 (11), 986-989, 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, 2018
Bi-allelic CSF1R mutations cause skeletal dysplasia of dysosteosclerosis-pyle disease spectrum and degenerative encephalopathy with brain malformation
L Guo, DR Bertola, A Takanohashi, A Saito, Y Segawa, T Yokota, ...
The American Journal of Human Genetics 104 (5), 925-935, 2019
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
Mutations in fibronectin cause a subtype of spondylometaphyseal dysplasia with “corner fractures”
CS Lee, H Fu, N Baratang, J Rousseau, H Kumra, VR Sutton, M Niceta, ...
The American Journal of Human Genetics 101 (5), 815-823, 2017
Rare RELN variants affect Reelin–DAB1 signal transduction in autism spectrum disorder
SM Sánchez‐Sánchez, J Magdalon, K Griesi‐Oliveira, GL Yamamoto, ...
Human mutation 39 (10), 1372-1383, 2018
The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan‐like syndrome individual: Broadening the clinical phenotype
D Bertola, G Yamamoto, M Buscarilli, A Jorge, MR Passos‐Bueno, C Kim
American Journal of Medical Genetics Part A 173 (3), 824-828, 2017
Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2
GF Leal, G Nishimura, U Voss, DR Bertola, E Åström, J Svensson, ...
Journal of Bone and Mineral Research 33 (4), 753-760, 2018
A novel complex neurological phenotype due to a homozygous mutation in FDX2
J Gurgel-Giannetti, DS Lynch, ARB Paiva, LT Lucato, G Yamamoto, ...
Brain 141 (8), 2289-2298, 2018
c. G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family
VGL Dantas, K Lezirovitz, GL Yamamoto, CFM Souza, SG Ferreira, ...
Genetics and molecular biology 37 (4), 616-621, 2014
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