User profiles for "author:Guilherme Lopes Yamamoto"
Guilherme Lopes YamamotoMédico 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 …
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 …
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
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 …
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 …
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 …
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 …
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 …
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 …
genomic variations in complex and heterogeneous conditions, as Autism Spectrum Disorder …
Expansion of CD4+ CD25+ Foxp3+ T cells by bone marrow‐derived dendritic cells
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 …
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 …
by clinical, radiological and molecular assessments. METHODS: Observational and …