Guilherme Yamamoto

Guilherme Yamamoto

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Guilherme Yamamoto

Guilherme Yamamoto

Publications by authors named "Guilherme Yamamoto"

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41Publications

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Meta-Analyses Support Previous and Novel Autism Candidate Genes: Outcomes of an Unexplored Brazilian Cohort.

Autism Res 2020 Feb 6;13(2):199-206. Epub 2019 Nov 6.

Departamento de Genética e Biologia Evolutiva, Centro de Estudos do Genoma Humano e Células-tronco, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brazil.

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http://dx.doi.org/10.1002/aur.2238DOI Listing
February 2020

Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome.

Horm Res Paediatr 2019 27;91(4):252-261. Epub 2019 May 27.

Unidade de Endocrinologia-Genetica, LIM/25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo (FMUSP), Sao Paulo, Brazil.

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http://dx.doi.org/10.1159/000500264DOI Listing
January 2020

Rare RELN variants affect Reelin-DAB1 signal transduction in autism spectrum disorder.

Hum Mutat 2018 10 26;39(10):1372-1383. Epub 2018 Jul 26.

Center for Experimental Research, Hospital Israelita Albert Einstein, Sao Paulo, Brazil.

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http://dx.doi.org/10.1002/humu.23584DOI Listing
October 2018

Diagnosis of Atelosteogenesis Type I suggested by Fetal Ultrasonography and Atypical Paternal Phenotype with Mosaicism.

Rev Bras Ginecol Obstet 2018 Sep 19;40(9):570-576. Epub 2018 Sep 19.

Department of Medical Genetics, Hospital Universitário Professor Edgard Santos, Universidade Federal da Bahia, Salvador, BA, Brazil.

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http://dx.doi.org/10.1055/s-0038-1670684DOI Listing
September 2018

Natural history of 39 patients with Achondroplasia.

Clinics (Sao Paulo) 2018 07 2;73:e324. Epub 2018 Jul 2.

Unidade de Genetica, Instituto da Crianca (ICR), Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, BR.

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http://dx.doi.org/10.6061/clinics/2018/e324DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6005962PMC
July 2018

Development of a comprehensive noninvasive prenatal test.

Genet Mol Biol 2018 Jul/Sept.;41(3):545-554. Epub 2018 Jul 16.

Centro de Pesquisa sobre o Genoma Humano e Células-Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brazil.

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http://dx.doi.org/10.1590/1678-4685-GMB-2017-0177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6136382PMC
July 2018

Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss.

Sci Rep 2018 06 7;8(1):8706. Epub 2018 Jun 7.

Centro de Pesquisas sobre o Genoma Humano e Células-Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1038/s41598-018-26818-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992146PMC
June 2018

Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects.

BMC Med Genet 2018 05 8;19(1):73. Epub 2018 May 8.

Centro de Pesquisas sobre o Genoma Humano e Células-Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-018-0585-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5941635PMC
May 2018

Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?

Genet Mol Biol 2018 Jan-Mar;41(1):85-91. Epub 2018 Feb 19.

Genetics Unit, Instituto da Criança do Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S
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http://dx.doi.org/10.1590/1678-4685-GMB-2017-0172DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5901507PMC
February 2018

A new insight into CFTR allele frequency in Brazil through next generation sequencing.

Pediatr Pulmonol 2017 10 3;52(10):1300-1305. Epub 2017 Aug 3.

Hospital Israelita Albert Einstein, São Paulo, Brazil.

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http://dx.doi.org/10.1002/ppul.23774DOI Listing
October 2017

Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.

Am J Med Genet A 2017 Apr;173(4):938-945

Centro de Pesquisas Sobre o Genoma Humano e Células-Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.38101DOI Listing
April 2017

The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.

Am J Med Genet A 2017 Mar;173(3):824-828

Unidade de Genética Clínica, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.38070DOI Listing
March 2017

Post-mortem cytogenomic investigations in patients with congenital malformations.

Exp Mol Pathol 2016 08 20;101(1):116-23. Epub 2016 Jul 20.

Department of Pathology, Cytogenomic Laboratory - LIM 03 - HC-FMUSP, Universidade de São Paulo, SP, Brazil; Human Reproduction and Genetic Center, Department of Coletive Health - Faculdade de Medicina do ABC, Santo André, SP, Brazil.

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http://dx.doi.org/10.1016/j.yexmp.2016.07.003DOI Listing
August 2016

Nutritional aspects of Noonan syndrome and Noonan-related disorders.

Am J Med Genet A 2016 06 1;170(6):1525-31. Epub 2016 Apr 1.

Unidade de Genética do Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.37639DOI Listing
June 2016

Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft Palate.

Hum Mutat 2015 Nov 3;36(11):1029-33. Epub 2015 Aug 3.

Centro de Pesquisa sobre o Genoma Humano e Células-Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brasil.

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http://dx.doi.org/10.1002/humu.22827DOI Listing
November 2015

Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.

J Med Genet 2015 Jun 20;52(6):413-21. Epub 2015 Mar 20.

Unidade de Genética, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil Centro de Pesquisa sobre o Genoma Humano e Células-Tronco, Instituto de Biociências da Universidade de São Paulo, São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1136/jmedgenet-2015-103018DOI Listing
June 2015

Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features.

Am J Med Genet A 2015 May 7;167A(5):1039-46. Epub 2015 Feb 7.

Genetics Unit, Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, Sao Paulo, Brazil.

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http://genoma.ib.usp.br/sites/default/files/publicacoes/carv
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http://doi.wiley.com/10.1002/ajmg.a.36789
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http://dx.doi.org/10.1002/ajmg.a.36789DOI Listing
May 2015

Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility.

Endocr Relat Cancer 2015 Feb 25;22(1):65-76. Epub 2014 Nov 25.

Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das ClínicasUniversity of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, BrazilNursing SchoolSchool of Public HealthHuman Genome Research CenterUniversity of São Paulo, São Paulo, São Paulo, BrazilDivision of GeneticsGenetic Bases of Thyroid Tumors Laboratory, Department of Morphology and GeneticsDivision of EndocrinologyLaboratory of Molecular and Translational Endocrinology, Department of Medicine, Federal University of São Paulo, São Paulo, São Paulo, BrazilBrazilian National Laboratory of BiosciencesCampinas, São Paulo, BrazilCentro Integral Oncológico Clara CampalHospital Universitário Sanchinarro, Madrid, SpainDepartment of GeneticsTexas Biomedical Research Institute, AT&T Genomic Computing Center, San Antonio, Texas, USAEndocrinology DivisionSanta Casa Hospital, São Paulo, São Paulo, BrazilLaboratory of Epidemiology and Population SciencesNational Institute on Aging, Bethesda, Maryland, USA Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das ClínicasUniversity of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, BrazilNursing SchoolSchool of Public HealthHuman Genome Research CenterUniversity of São Paulo, São Paulo, São Paulo, BrazilDivision of GeneticsGenetic Bases of Thyroid Tumors Laboratory, Department of Morphology and GeneticsDivision of EndocrinologyLaboratory of Molecular and Translational Endocrinology, Department of Medicine, Federal University of São Paulo, São Paulo, São Paulo, BrazilBrazilian National Laboratory of BiosciencesCampinas, São Paulo, BrazilCentro Integral Oncológico Clara CampalHospital Universitário Sanchinarro, Madrid, SpainDepartment of GeneticsTexas Biomedical Research Institute, AT&T Genomic Computing Center, San Antonio, Texas, USAEndocrinology DivisionSanta Casa Hospital, São Paulo, São Paulo, BrazilLaboratory of Epidemiology and Population SciencesNat

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http://dx.doi.org/10.1530/ERC-14-0491DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4289937PMC
February 2015

Further evidence of the importance of RIT1 in Noonan syndrome.

Am J Med Genet A 2014 Nov 13;164A(11):2952-7. Epub 2014 Aug 13.

Unidade de Genética do Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo/SP, Brazil; Instituto de Biociências, Universidade de São Paulo, São Paulo/SP, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.36722DOI Listing
November 2014

c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family.

Genet Mol Biol 2014 Oct 14;37(4):616-21. Epub 2014 Nov 14.

Departamento de Genetica e Biologia Evolutiva , Instituto de Biociências , Instituto de Biociências , Universidade de São Paulo , São Paulo, SP , Brazil .

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http://dx.doi.org/10.1590/S1415-47572014005000025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4261959PMC
October 2014

Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case report.

BMC Res Notes 2014 Aug 1;7:487. Epub 2014 Aug 1.

Laboratory of Muscle Proteins and Comparative Histopathology, Human Genome Research Center, Biosciences Institute, University of São Paulo, R, do Matão, 106 - Cidade Universitária, São Paulo, SP CEP 05508-900, Brazil.

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http://bmcresnotes.biomedcentral.com/articles/10.1186/1756-0
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http://dx.doi.org/10.1186/1756-0500-7-487DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4124474PMC
August 2014

Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy.

Am J Hum Genet 2014 Jan;94(1):113-9

Unidade de Genética, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo 05403-000, Brazil; Centro de Estudos do Genoma Humano, Instituto de Biociências da Universidade de São Paulo, São Paulo 05508-090, Brazil.

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http://dx.doi.org/10.1016/j.ajhg.2013.11.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3882913PMC
January 2014

Obesity in pycnodysostosis due to UPD1: possible effect of an imprinted gene on chromosome 1.

Am J Med Genet A 2011 Jun 12;155A(6):1483-6. Epub 2011 May 12.

Unidade de Genética, Instituto da Criança, Faculdade de Medicina da Universidade de São Paulo, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.33989DOI Listing
June 2011

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

Immunology 2009 May;127(1):50-61

Laboratory of Clinical Immunology, Department of Immunology, Instituto de Ciências Biomédicas, University of São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1111/j.1365-2567.2008.02927.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2678181PMC
May 2009

Donor bone marrow cells play a role in the prevention of accelerated graft rejection induced by semi-allogeneic spleen cells in transplantation.

Transpl Immunol 2008 Feb 11;18(4):330-7. Epub 2007 Oct 11.

Laboratory of Clinical Immunology, Department of Immunology, Institute of Biomedical Sciences, University of São Paulo, SP, Brazil.

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http://dx.doi.org/10.1016/j.trim.2007.09.001DOI Listing
February 2008