Fabio R Faucz

Summary

Country: Brazil

Publications

  1. doi request reprint CFTR allelic heterogeneity in Brazil: historical and geographical perspectives and implications for screening and counseling for cystic fibrosis in this country
    Fabio R Faucz
    Center for Health and Biological Sciences, Pontificia Universidade Catolica do Parana, Curitiba, Brazil
    J Hum Genet 55:71-6. 2010
  2. pmc Phosphodiesterase 11A (PDE11A) genetic variants may increase susceptibility to prostatic cancer
    Fabio Rueda Faucz
    Section of Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Clin Endocrinol Metab 96:E135-40. 2011
  3. doi request reprint Mosaic partial trisomy 19p12-q13.11 due to a small supernumerary marker chromosome: a locus associated with Asperger syndrome?
    Fabio Rueda Faucz
    Graduate Program in Health Sciences PPGCS, Center for Biological and Health Sciences CCBS, Pontificia Universidade Catolica do Parana PUCPR Curitiba, PR, Brazil
    Am J Med Genet A 155:2308-10. 2011
  4. pmc Identification of novel genetic variants in phosphodiesterase 8B (PDE8B), a cAMP-specific phosphodiesterase highly expressed in the adrenal cortex, in a cohort of patients with adrenal tumours
    Anya Rothenbuhler
    Section on Endocrinology and Genetics and Pediatric Endocrinology Training Program, both at Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892 1103, USA
    Clin Endocrinol (Oxf) 77:195-9. 2012
  5. pmc Cyclic AMP and c-KIT signaling in familial testicular germ cell tumor predisposition
    Monalisa F Azevedo
    Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Clin Endocrinol Metab 98:E1393-400. 2013
  6. pmc Clinical and molecular genetics of the phosphodiesterases (PDEs)
    Monalisa F Azevedo
    Section on Endocrinology Genetics M F A, F R F, E B, A H, I L, R B d A, C A S, Program on Developmental Endocrinology Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development NICHD, National Institutes of Health NIH, Bethesda, Maryland 20892 Section of Endocrinology M F A, University Hospital of Brasilia, Faculty of Medicine, University of Brasilia, Brasilia 70840 901, Brazil Group for Advanced Molecular Investigation F R F, R B d A, Graduate Program in Health Science, Medical School, Pontificia Universidade Catolica do Parana, Curitiba 80215 901, Brazil Cardiovascular Pulmonary Branch F A, V M, National Heart, Lung, and Blood Institute, NIH, Bethesda, Maryland 20892 and Pediatric Endocrinology Inter Institute Training Program C A S, NICHD, NIH, Bethesda, Maryland 20892
    Endocr Rev 35:195-233. 2014
  7. pmc Integrated analysis of genome-wide methylation and gene expression shows epigenetic regulation of CYP11B2 in aldosteronomas
    Brandi Howard
    Endocrine Oncology B H, M J, L Z, E K and Genetics Y W, P G M Branches, National Cancer Institute, and Section on Endocrinology and Genetics P X, F R F, C A S, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892
    J Clin Endocrinol Metab 99:E536-43. 2014
  8. ncbi request reprint Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad
    Florian Haller
    Institute of PathologyUniversity Hospital Erlangen, Friedrich Alexander University Erlangen Nuremberg, Krankenhausstraße 8 10, D 91054 Erlangen, GermanyProgram on Developmental Endocrinology and GeneticsEunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USADivision Molecular Genome AnalysisDivision of Theoretical BioinformaticsGerman Cancer Research Center DKFZ, Heidelberg, GermanyInstitut CochinINSERM U1016, CNRS UMR 8104, Universite Paris Descartes, Sorbonne Paris Cité, Paris, FranceDepartment of EndocrinologyReferal Center for Rare Adrenal Diseases, Assistance Publique Hopitaux de Paris, Hopital Cochin, Paris, FranceInstitute of PathologyUniversity Medical Center, Georg August University, Gottingen, GermanyInstitute of PathologyUniversity Hospital, Albert Ludwigs University Freiburg, Freiburg, GermanySchool of Clinical and Experimental MedicineCollege of Medical and Dental Sciences, Centre for Rare Diseases and Personalised Medicine, Birmingham Women s Hospital, University of Birmingham and West Midlands Regional Genetics Service, Birmingham, UKDepartment of Medical GeneticsUniversity of Cambridge, Cambridge CB2 0QQ, UKLaboratory Medicine and PathologyEmeritus Staff, Mayo Clinic, Rochester, Minnesota, USA
    Endocr Relat Cancer 21:567-77. 2014
  9. pmc Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing
    Paraskevi Salpea
    Section on Endocrinology and Genetics P S, E L, F R F, I L, E G, M F K, C L, C A S, Program on Developmental Endocrinology and Genetics and Pediatric Endocrinology Inter institute Training Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892 Department of Biochemistry and Molecular Medicine A H, The George Washington University, Washington, D C 20037 Department of Molecular Medicine A V, A F, o z, University of Pavia, Pavia 27100, Italy Division of Genetics and Endocrinology A D, I A H, Boston Children s Hospital, Boston, Massachusetts Regional Medical Genetics Center P J M, Queens University Belfast, Belfast BT9 7AB, United Kingdom and Quest Diagnostics Nichols Institute E D S, M A S, J C K, Z D, P M, Chantilly, Virginia 20151
    J Clin Endocrinol Metab 99:E183-8. 2014
  10. doi request reprint MASP2 gene polymorphism is associated with susceptibility to hepatitis C virus infection
    Siumara Tulio
    Department of Medical Pathology, Hospital de Clinicas, Federal University of Parana, Curitiba, PR, Brazil
    Hum Immunol 72:912-5. 2011

Collaborators

Detail Information

Publications11

  1. doi request reprint CFTR allelic heterogeneity in Brazil: historical and geographical perspectives and implications for screening and counseling for cystic fibrosis in this country
    Fabio R Faucz
    Center for Health and Biological Sciences, Pontificia Universidade Catolica do Parana, Curitiba, Brazil
    J Hum Genet 55:71-6. 2010
    ..Here, we present an analysis of the CFTR allelic heterogeneity and discuss the origin of its genetic composition, in an attempt to provide improved perspective for the CF population screening in Brazil and genetic counseling...
  2. pmc Phosphodiesterase 11A (PDE11A) genetic variants may increase susceptibility to prostatic cancer
    Fabio Rueda Faucz
    Section of Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Clin Endocrinol Metab 96:E135-40. 2011
    ..In addition, the combined cancer genome expression metaanalysis datasets included PDE11A among the top 1% down-regulated genes in PCa...
  3. doi request reprint Mosaic partial trisomy 19p12-q13.11 due to a small supernumerary marker chromosome: a locus associated with Asperger syndrome?
    Fabio Rueda Faucz
    Graduate Program in Health Sciences PPGCS, Center for Biological and Health Sciences CCBS, Pontificia Universidade Catolica do Parana PUCPR Curitiba, PR, Brazil
    Am J Med Genet A 155:2308-10. 2011
    ..11. Based on the size and genic content, it is expected that the partial trisomy detected is responsible for the characteristics observed in the patient. In that case it could be an indication of a novel locus associated with AS...
  4. pmc Identification of novel genetic variants in phosphodiesterase 8B (PDE8B), a cAMP-specific phosphodiesterase highly expressed in the adrenal cortex, in a cohort of patients with adrenal tumours
    Anya Rothenbuhler
    Section on Endocrinology and Genetics and Pediatric Endocrinology Training Program, both at Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892 1103, USA
    Clin Endocrinol (Oxf) 77:195-9. 2012
    ..Genetic aberrations in various components of cAMP signalling pathway predispose to endocrine tumours. Mutations in the phosphodiesterases (PDEs) are involved in the predisposition to adrenocortical neoplastic conditions...
  5. pmc Cyclic AMP and c-KIT signaling in familial testicular germ cell tumor predisposition
    Monalisa F Azevedo
    Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Clin Endocrinol Metab 98:E1393-400. 2013
    ....
  6. pmc Clinical and molecular genetics of the phosphodiesterases (PDEs)
    Monalisa F Azevedo
    Section on Endocrinology Genetics M F A, F R F, E B, A H, I L, R B d A, C A S, Program on Developmental Endocrinology Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development NICHD, National Institutes of Health NIH, Bethesda, Maryland 20892 Section of Endocrinology M F A, University Hospital of Brasilia, Faculty of Medicine, University of Brasilia, Brasilia 70840 901, Brazil Group for Advanced Molecular Investigation F R F, R B d A, Graduate Program in Health Science, Medical School, Pontificia Universidade Catolica do Parana, Curitiba 80215 901, Brazil Cardiovascular Pulmonary Branch F A, V M, National Heart, Lung, and Blood Institute, NIH, Bethesda, Maryland 20892 and Pediatric Endocrinology Inter Institute Training Program C A S, NICHD, NIH, Bethesda, Maryland 20892
    Endocr Rev 35:195-233. 2014
    ....
  7. pmc Integrated analysis of genome-wide methylation and gene expression shows epigenetic regulation of CYP11B2 in aldosteronomas
    Brandi Howard
    Endocrine Oncology B H, M J, L Z, E K and Genetics Y W, P G M Branches, National Cancer Institute, and Section on Endocrinology and Genetics P X, F R F, C A S, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892
    J Clin Endocrinol Metab 99:E536-43. 2014
    ..Differential methylation of CpG regions is the best-defined mechanism of epigenetic regulation of gene expression...
  8. ncbi request reprint Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad
    Florian Haller
    Institute of PathologyUniversity Hospital Erlangen, Friedrich Alexander University Erlangen Nuremberg, Krankenhausstraße 8 10, D 91054 Erlangen, GermanyProgram on Developmental Endocrinology and GeneticsEunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USADivision Molecular Genome AnalysisDivision of Theoretical BioinformaticsGerman Cancer Research Center DKFZ, Heidelberg, GermanyInstitut CochinINSERM U1016, CNRS UMR 8104, Universite Paris Descartes, Sorbonne Paris Cité, Paris, FranceDepartment of EndocrinologyReferal Center for Rare Adrenal Diseases, Assistance Publique Hopitaux de Paris, Hopital Cochin, Paris, FranceInstitute of PathologyUniversity Medical Center, Georg August University, Gottingen, GermanyInstitute of PathologyUniversity Hospital, Albert Ludwigs University Freiburg, Freiburg, GermanySchool of Clinical and Experimental MedicineCollege of Medical and Dental Sciences, Centre for Rare Diseases and Personalised Medicine, Birmingham Women s Hospital, University of Birmingham and West Midlands Regional Genetics Service, Birmingham, UKDepartment of Medical GeneticsUniversity of Cambridge, Cambridge CB2 0QQ, UKLaboratory Medicine and PathologyEmeritus Staff, Mayo Clinic, Rochester, Minnesota, USA
    Endocr Relat Cancer 21:567-77. 2014
    ..Collectively, these data suggest epigenetic inactivation of the SDHC gene locus with functional impairment of the SDH complex as a plausible alternate mechanism of tumorigenesis in CT. ..
  9. pmc Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing
    Paraskevi Salpea
    Section on Endocrinology and Genetics P S, E L, F R F, I L, E G, M F K, C L, C A S, Program on Developmental Endocrinology and Genetics and Pediatric Endocrinology Inter institute Training Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892 Department of Biochemistry and Molecular Medicine A H, The George Washington University, Washington, D C 20037 Department of Molecular Medicine A V, A F, o z, University of Pavia, Pavia 27100, Italy Division of Genetics and Endocrinology A D, I A H, Boston Children s Hospital, Boston, Massachusetts Regional Medical Genetics Center P J M, Queens University Belfast, Belfast BT9 7AB, United Kingdom and Quest Diagnostics Nichols Institute E D S, M A S, J C K, Z D, P M, Chantilly, Virginia 20151
    J Clin Endocrinol Metab 99:E183-8. 2014
    ..Small deletions of the gene were previously reported in few patients, but large deletions of the chromosomal PRKAR1A locus have not been studied systematically in a large cohort of patients with CNC...
  10. doi request reprint MASP2 gene polymorphism is associated with susceptibility to hepatitis C virus infection
    Siumara Tulio
    Department of Medical Pathology, Hospital de Clinicas, Federal University of Parana, Curitiba, PR, Brazil
    Hum Immunol 72:912-5. 2011
    ..001). However, further functional investigations are necessary to understand the degree of involvement between MASP2 and the HCV susceptibility...
  11. pmc Macronodular adrenal hyperplasia due to mutations in an armadillo repeat containing 5 (ARMC5) gene: a clinical and genetic investigation
    Fabio R Faucz
    Section on Endocrinology and Genetics F R F, M Z, M B L, E S, G T, A B, C A S, Program on Developmental Endocrinology and Genetics, Program on Reproductive and Adult Endocrinology M Z, Biostatistics and Clinical Epidemiology Service N S, Clinical Center, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892 Group for Advanced Molecular Investigation F R F, Graduate Program in Health Science, Center for Biological and Sciences, Pontificia Universidade Catolica do Parana, Curitiba Brazil 80215 901 Department of Endocrinology, Metabolism, and Cancer R L, G A, S E, L D, B R, J B, INSERM Unité 1016, Centre National de la Recherche Scientifique Unite Mixte de Recherche 8104, Institut Cochin, 75014 Paris, France
    J Clin Endocrinol Metab 99:E1113-9. 2014
    ..Objective: We searched for ARMC5 mutations in a large cohort of patients with MAH. The clinical phenotype of patients with and without ARMC5 mutations was compared...