Maria Rita Passos-Bueno

Maria Rita Passos-Bueno

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Maria Rita Passos-Bueno

Maria Rita Passos-Bueno

Publications by authors named "Maria Rita Passos-Bueno"

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A fast degrading PLLA composite with a high content of functionalized octacalcium phosphate mineral phase induces stem cells differentiation.

J Mech Behav Biomed Mater 2019 May 6;93:93-104. Epub 2019 Feb 6.

Departamento de Química Fundamental, Instituto de Química, Universidade de São Paulo, São Paulo, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.jmbbm.2019.02.003DOI Listing
May 2019

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

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

Complexity of the 5' Untranslated Region of , a Critical Factor for Craniofacial and Neural Development.

Front Genet 2018 25;9:149. Epub 2018 Apr 25.

Centro de Estudos do 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/10.3389/fgene.2018.00149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5996909PMC
April 2018

CD105 is regulated by hsa-miR-1287 and its expression is inversely correlated with osteopotential in SHED.

Bone 2018 Jan 13;106:112-120. Epub 2017 Oct 13.

Departamento de Genética e Evolução, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2017.10.014DOI Listing
January 2018

Posttranscriptional Interaction Between miR-450a-5p and miR-28-5p and STAT1 mRNA Triggers Osteoblastic Differentiation of Human Mesenchymal Stem Cells.

J Cell Biochem 2017 11 23;118(11):4045-4062. Epub 2017 May 23.

Molecular Immunogenetics Group, Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, São Paulo, Brazil.

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http://dx.doi.org/10.1002/jcb.26060DOI Listing
November 2017

Validating GWAS Variants from Microglial Genes Implicated in Alzheimer's Disease.

J Mol Neurosci 2017 Jun 5;62(2):215-221. Epub 2017 May 5.

Laboratório de Genética Humana e Molecular, Departamento de Ciências Biológicas, Centro de CiênciasHumanas e Naturais, Universidade Federal do Espírito Santo, Av. Fernando Ferrari, 514, Prédio BárbaraWeinberg, Sala 102, Vitória, ES, 29075-910, Brazil.

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http://dx.doi.org/10.1007/s12031-017-0928-7DOI Listing
June 2017

Differential methylation is associated with non-syndromic cleft lip and palate and contributes to penetrance effects.

Sci Rep 2017 05 26;7(1):2441. Epub 2017 May 26.

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

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http://dx.doi.org/10.1038/s41598-017-02721-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5446392PMC
May 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

The influence of population stratification on genetic markers associated with type 1 diabetes.

Sci Rep 2017 03 6;7:43513. Epub 2017 Mar 6.

Laboratório de Carboidratos e Radioimunoensaio (LIM-18) do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo. Av. Dr. Arnaldo, 455, sala 3324, 01246-903, São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1038/srep43513DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5338024PMC
March 2017

Importance of Zinc Transporter 8 Autoantibody in the Diagnosis of Type 1 Diabetes in Latin Americans.

Sci Rep 2017 03 16;7(1):207. Epub 2017 Mar 16.

Laboratório de Carboidratos e Radioimunoensaio -LIM 18, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo. Av Dr. Arnaldo 455, 01246-903, São Paulo, Brazil.

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http://dx.doi.org/10.1038/s41598-017-00307-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5428214PMC
March 2017

Cell Type-Dependent Nonspecific Fibroblast Growth Factor Signaling in Apert Syndrome.

Stem Cells Dev 2016 08 23;25(16):1249-60. Epub 2016 Jun 23.

2 Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo , São Paulo, Brazil .

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http://dx.doi.org/10.1089/scd.2016.0018DOI Listing
August 2016

Neuromuscular disorders: genes, genetic counseling and therapeutic trials.

Genet Mol Biol 2016 Jul-Sep;39(3):339-48

Human Genome and Research Center (HUG-CELL), Instituto de Biociências, Universidade de São Paulo (USP), São Paulo, SP, Brazil.

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http://dx.doi.org/10.1590/1678-4685-GMB-2016-0019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5004840PMC
August 2016

Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects.

Am J Med Genet A 2016 06 30;170(6):1532-7. Epub 2016 Mar 30.

Departamento de Fonoaudiologia, FOB-USP, Bauru, SP, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.37640DOI Listing
June 2016

Craniosynostosis in 10q26 deletion patients: A consequence of brain underdevelopment or altered suture biology?

Am J Med Genet A 2016 Feb 14;170A(2):403-409. Epub 2015 Nov 14.

Programa de Graduação em Biotecnologia, Centro de Ciências da Saúde, Universidade Federal do Espírito Santo (UFES), Vitória, Espírito Santo, Brasil.

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http://dx.doi.org/10.1002/ajmg.a.37448DOI Listing
February 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

Increased In Vitro Osteopotential in SHED Associated with Higher IGF2 Expression When Compared with hASCs.

Stem Cell Rev Rep 2015 Aug;11(4):635-44

Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, Rua do Matao, 277, sala 200, Sao Paulo, SP, Brazil, 05508-090,

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http://dx.doi.org/10.1007/s12015-015-9592-xDOI Listing
August 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

Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: Insights into genotype-phenotype correlation.

Am J Med Genet A 2015 May 28;167A(5):1161-4. Epub 2015 Mar 28.

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

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http://dx.doi.org/10.1002/ajmg.a.36981DOI Listing
May 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

Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.

Genet Med 2014 Sep 6;16(9):720-4. Epub 2014 Mar 6.

1] Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, CHU de Hautepierre, Strasbourg, France [2] Laboratoire de Génétique Médicale, INSERM U1112, Faculté de Médecine, Université de Strasbourg, Strasbourg, France [3] Current affiliation: Service de Génétique, CHU la Réunion, Hôpital Félix Guyon, Saint-Denis, France.

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http://dx.doi.org/10.1038/gim.2014.12DOI Listing
September 2014

Genetics and genomics in Brazil: a promising future.

Mol Genet Genomic Med 2014 Jul;2(4):280-91

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

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http://dx.doi.org/10.1002/mgg3.95DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4113268PMC
July 2014

A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia.

PLoS One 2013 12;8(8):e73576. Epub 2013 Aug 12.

Department of Reconstructive Sciences, Center for Regenerative Medicine and Developmental Biology, University of Connecticut Health Center, Farmington, Connecticut, United States of America.

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http://repositorio.chlc.min-saude.pt/bitstream/10400.17/1723
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http://dx.plos.org/10.1371/journal.pone.0073576
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0073576PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3741164PMC
April 2014

Is bone transplantation the gold standard for repair of alveolar bone defects?

J Tissue Eng 2014 16;5:2041731413519352. Epub 2014 Jan 16.

Departamento de Cirurgia Plástica e Queimaduras, Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil.

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http://dx.doi.org/10.1177/2041731413519352DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3924878PMC
February 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

Stem cells as a good tool to investigate dysregulated biological systems in autism spectrum disorders.

Autism Res 2013 Oct 25;6(5):354-61. Epub 2013 Jun 25.

Centro de Estudos do Genoma Humano, Departamento de Biologia, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brasil.

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http://dx.doi.org/10.1002/aur.1296DOI Listing
October 2013

Fat grafts supplemented with adipose-derived stromal cells in the rehabilitation of patients with craniofacial microsomia.

Plast Reconstr Surg 2013 Jul;132(1):141-52

Division of Plastic and Reconstructive Surgery, University of São Paulo School of Medicine, São Paulo, Brazil.

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http://dx.doi.org/10.1097/PRS.0b013e3182910a82DOI Listing
July 2013

A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate.

Eur J Med Genet 2013 Apr 8;56(4):222-5. Epub 2013 Feb 8.

Department of Genetics and Evolutionary Biology, Institute of Bioscience, University of São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1016/j.ejmg.2013.01.002DOI Listing
April 2013

Vertical transmission of a frontonasal phenotype caused by a novel ALX4 mutation.

Am J Med Genet A 2013 Mar 7;161A(3):600-4. Epub 2013 Feb 7.

Instituto da Criança - HC/FMUSP, São Paulo, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.35762DOI Listing
March 2013

Genetics and management of the patient with orofacial cleft.

Plast Surg Int 2012 1;2012:782821. Epub 2012 Nov 1.

Human Genome Research Center, Institute of Biosciences, University of São Paulo, 05508-090 São Paulo, SP, Brazil.

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http://genoma.ib.usp.br/sites/default/files/publicacoes/gene
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http://www.hindawi.com/journals/psi/2012/782821/
Publisher Site
http://dx.doi.org/10.1155/2012/782821DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3503281PMC
December 2012

FGFR2 mutation confers a less drastic gain of function in mesenchymal stem cells than in fibroblasts.

Stem Cell Rev Rep 2012 Sep;8(3):685-95

Human Genome Center, Department of Genetics and Evolutive Biology, Institute of Bioscience, University of Sao Paulo, Rua do Matão, 277, São Paulo, SP CEP 05508-900, Brazil.

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http://dx.doi.org/10.1007/s12015-011-9327-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3412083PMC
September 2012

IRF6 is a risk factor for nonsyndromic cleft lip in the Brazilian population.

Am J Med Genet A 2012 Sep 6;158A(9):2170-5. Epub 2012 Aug 6.

Human Genome Research Center, Department of Genetics, Institute de Biosciences, University of São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.35526DOI Listing
September 2012

A complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder.

Am J Med Genet B Neuropsychiatr Genet 2012 Jul 16;159B(5):529-36. Epub 2012 May 16.

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

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http://dx.doi.org/10.1002/ajmg.b.32059DOI Listing
July 2012

Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion.

Am J Med Genet A 2012 Jul 24;158A(7):1676-9. Epub 2012 May 24.

Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies (HRAC), University of São Paulo, Bauru, SP, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.35351DOI Listing
July 2012

Saethre-Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7.

Am J Med Genet A 2012 Jul 24;158A(7):1680-5. Epub 2012 May 24.

Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRCA-USP), Bauru, SP, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.35367DOI Listing
July 2012

Auriculo-condylar syndrome. Confronting a diagnostic challenge.

Am J Med Genet A 2012 Jan 21;158A(1):59-65. Epub 2011 Nov 21.

Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRCA-USP), Bauru, SP, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.34337DOI Listing
January 2012

Effects of antipsychotics with different weight gain liabilities on human in vitro models of adipose tissue differentiation and metabolism.

Prog Neuropsychopharmacol Biol Psychiatry 2011 Dec 5;35(8):1884-90. Epub 2011 Aug 5.

Centro de Pesquisa Experimental, Instituto Israelita de Ensino e Pesquisa Albert Einstein, São Paulo, Brazil.

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http://dx.doi.org/10.1016/j.pnpbp.2011.07.017DOI Listing
December 2011

Histological and radiological changes in cranial bone in the presence of bone wax.

Acta Cir Bras 2011 Aug;26(4):274-8

Institute of Craniofacial and Plastic Surgery, Campinas, SP, Brazil.

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August 2011

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

Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21-22.1 locus.

Am J Med Genet A 2011 May 4;155A(5):1106-8. Epub 2011 Apr 4.

Sezione di Genetica Medica, Azienda Ospedaliera e Università di Perugia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.33826DOI Listing
May 2011

The Richieri-Costa and Pereira syndrome: report of two Brazilian siblings and review of literature.

Am J Med Genet A 2011 May 11;155A(5):1173-7. Epub 2011 Apr 11.

Assistance Center for Cleft Lip and Palate, CAIF, Curitiba, Paraná, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.33975DOI Listing
May 2011

Effects of uterine cervix constriction on Wistar rats.

Acta Cir Bras 2010 Dec;25(6):469-74

Institute of Craniofacial and Plastic Surgery, SOBRAPAR, Campinas, SP, Brazil.

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December 2010

Craniosynostosis in pycnodysostosis: broadening the spectrum of the cranial flat bone abnormalities.

Am J Med Genet A 2010 Oct;152A(10):2599-603

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

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http://dx.doi.org/10.1002/ajmg.a.33609DOI Listing
October 2010

Collybistin and gephyrin are novel components of the eukaryotic translation initiation factor 3 complex.

BMC Res Notes 2010 Sep 21;3:242. Epub 2010 Sep 21.

Department of Genetics and Evolutive Biology, Institute of Bioscience, University of Sao Paulo, Brazil.

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http://dx.doi.org/10.1186/1756-0500-3-242DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2955581PMC
September 2010

Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome?

Am J Med Genet A 2010 Jul;152A(7):1838-40

Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies (HRAC), University of São Paulo, Bauru, SP, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.33477DOI Listing
July 2010

Mesenchymal stem cells derived from canine umbilical cord vein--a novel source for cell therapy studies.

Stem Cells Dev 2010 Mar;19(3):395-402

Human Genome Research Center, Department of Genetic and Evolutive Biology, University of São Paulo, São Paulo, Brazil.

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https://www.liebertpub.com/doi/10.1089/scd.2008.0314
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http://dx.doi.org/10.1089/scd.2008.0314DOI Listing
March 2010

Functionally conserved cis-regulatory elements of COL18A1 identified through zebrafish transgenesis.

Dev Biol 2010 Jan 3;337(2):496-505. Epub 2009 Nov 3.

Centro de Estudo do Genoma Humano, Department Genetica e Biologia Evolutiva, Instituto de Biociencias/Universidade de São Paulo, Brazil.

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http://dx.doi.org/10.1016/j.ydbio.2009.10.028DOI Listing
January 2010

Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome?

Am J Med Genet A 2009 Dec;149A(12):2762-4

Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies (HRAC), University of São Paulo, Bauru, SP, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.32816DOI Listing
December 2009

Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients.

BMC Med Genet 2009 Dec 14;10:136. Epub 2009 Dec 14.

Centro de Estudos do Genoma Humano, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brazil.

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http://dx.doi.org/10.1186/1471-2350-10-136DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2801500PMC
December 2009

Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome.

Mol Vis 2009 23;15:801-9. Epub 2009 Apr 23.

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2671584PMC
August 2009

Syndromes of the first and second pharyngeal arches: A review.

Am J Med Genet A 2009 Aug;149A(8):1853-9

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

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http://dx.doi.org/10.1002/ajmg.a.32950DOI Listing
August 2009

Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done?

Am J Med Genet A 2009 Jun;149A(6):1319-22

Centro de Estudos do Genoma Humano, 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/10.1002/ajmg.a.32849DOI Listing
June 2009

Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis.

Eur J Med Genet 2008 May-Jun;51(3):183-96. Epub 2008 Jan 9.

Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo, Rua Silvio Marchione 3-20, CEP 17012-900, Bauru, SP, Brazil.

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http://dx.doi.org/10.1016/j.ejmg.2007.12.008DOI Listing
August 2008

Stem cell proliferation under low intensity laser irradiation: a preliminary study.

Lasers Surg Med 2008 Aug;40(6):433-8

Hospital Israelita Albert Einstein, Unit of Bone Marrow Transplantation, São Paulo 05651-901, SP, Brazil.

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http://dx.doi.org/10.1002/lsm.20646DOI Listing
August 2008

Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene.

Clin Dysmorphol 2008 Jul;17(3):225-6

Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies (HRAC), University of São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1097/MCD.0b013e3282fe1b8eDOI Listing
July 2008

Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations.

Front Oral Biol 2008 ;12:107-143

Human Genome Center, Institute of Biosciences, University of São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1159/000115035DOI Listing
June 2008

COL18A1 is highly expressed during human adipocyte differentiation and the SNP c.1136C > T in its "frizzled" motif is associated with obesity in diabetes type 2 patients.

An Acad Bras Cienc 2008 Mar;80(1):167-77

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

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March 2008

Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity.

Eur J Hum Genet 2008 Feb 14;16(2):145-52. Epub 2007 Nov 14.

Instituto de Biociências, Universidade de São Paulo, São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1038/sj.ejhg.5201955DOI Listing
February 2008

Reconstruction of large cranial defects in nonimmunosuppressed experimental design with human dental pulp stem cells.

J Craniofac Surg 2008 Jan;19(1):204-10

Departamento de Cirurgia Plástica e Queimaduras, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1097/scs.0b013e31815c8a54DOI Listing
January 2008

An 11q11-q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses.

Am J Med Genet A 2007 Aug;143A(16):1912-8

Centro de Estudos do Genoma Humano, 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/10.1002/ajmg.a.31863DOI Listing
August 2007

CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene.

Am J Med Genet A 2007 Jul;143A(13):1514-8

Clinical Genetic Unit, Department of Medical Genetics, APHP, Robert Debré University Hospital, 48 boulevard Serurier, 75019 Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.31784DOI Listing
July 2007

Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation.

Clin Dysmorphol 2007 Jul;16(3):163-6

Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, USP, São Paulo, SP, Brazil.

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http://dx.doi.org/10.1097/MCD.0b013e3280739753DOI Listing
July 2007

Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion.

Birth Defects Res A Clin Mol Teratol 2006 Aug;76(8):629-33

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

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http://dx.doi.org/10.1002/bdra.20287DOI Listing
August 2006