User profiles for "author:Guilherme Lopes Yamamoto"

Guilherme Lopes Yamamoto

Médico geneticista do Instituto da Criança do Hospital das Clínicas da Faculdade de …
Verified email at usp.br
Cited by 2508

Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome

GL Yamamoto, M Aguena, M Gos, C Hung… - Journal of medical …, 2015 - jmg.bmj.com
Background Noonan syndrome is an autosomal dominant, multisystemic disorder caused by
dysregulation of the RAS/mitogen activated protein kinase (MAPK) pathway. Heterozygous …

Exomic variants of an elderly cohort of Brazilians in the ABraOM database

MS Naslavsky, GL Yamamoto, TF de Almeida… - Human …, 2017 - Wiley Online Library
Brazilians are highly admixed with ancestry from Europe, Africa, America, and Asia and yet
still underrepresented in genomic databanks. We hereby present a collection of exomic …

[HTML][HTML] Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells

LC Caires-Júnior, E Goulart, US Melo… - Nature …, 2018 - nature.com
Congenital Zika syndrome (CZS) causes early brain development impairment by affecting
neural progenitor cells (NPCs). Here, we analyze NPCs from three pairs of dizygotic twins …

[PDF][PDF] 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… - The American Journal of …, 2019 - cell.com
Colony stimulating factor 1 receptor (CSF1R) plays key roles in regulating development and
function of the monocyte/macrophage lineage, including microglia and osteoclasts. Mono …

Burden of rare copy number variants in microcephaly: A Brazilian cohort of 185 microcephalic patients and review of the literature

GC Tolezano, GC Bastos, SS da Costa… - Journal of Autism and …, 2022 - Springer
Microcephaly presents heterogeneous genetic etiology linked to several
neurodevelopmental disorders (NDD). Copy number variants (CNVs) are a causal …

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… - Human …, 2015 - Wiley Online Library
Nonsyndromic orofacial cleft (NSOFC) is a complex disease of still unclear genetic etiology.
To investigate the contribution of rare epithelial cadherin (CDH1) gene variants to NSOFC …

[HTML][HTML] Actin cytoskeleton dynamics in stem cells from autistic individuals

K Griesi-Oliveira, AM Suzuki, AY Alves, ACCN Mafra… - Scientific reports, 2018 - nature.com
Several lines of indirect evidence, such as mutations or dysregulated expression of genes
related to cytoskeleton, have suggested that cytoskeletal dynamics, a process essential for …

Meta‐analyses support previous and novel autism candidate genes: Outcomes of an unexplored Brazilian cohort

EM da Silva Montenegro, CS Costa… - Autism …, 2020 - Wiley Online Library
Large genomic databases of neurodevelopmental disorders (NDD) are helpful resources of
genomic variations in complex and heterogeneous conditions, as Autism Spectrum Disorder …

Expansion of CD4+ CD25+ Foxp3+ T cells by bone marrow‐derived dendritic cells

I Marguti, GL Yamamoto, TB da Costa, LV Rizzo… - …, 2009 - Wiley Online Library
Dendritic cells (DCs) are the most important antigen‐presenting cells of the immune system
and have a crucial role in T‐lymphocyte activation and adaptive immunity initiation …

[HTML][HTML] Natural history of 39 patients with Achondroplasia

JRM Ceroni, DCQ Soares, LC Testai, RSH Kawahira… - Clinics, 2018 - SciELO Brasil
OBJECTIVES: To characterize the natural history of 39 achondroplastic patients diagnosed
by clinical, radiological and molecular assessments. METHODS: Observational and …