Fabio R Faucz
- CFTR allelic heterogeneity in Brazil: historical and geographical perspectives and implications for screening and counseling for cystic fibrosis in this countryFabio 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...
- Phosphodiesterase 11A (PDE11A) genetic variants may increase susceptibility to prostatic cancerFabio 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...
- 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...
- 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 tumoursAnya 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...
- Cyclic AMP and c-KIT signaling in familial testicular germ cell tumor predispositionMonalisa 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....
- Deletions of the PRKAR1A Locus at 17q24.2-q24.3 in Carney Complex: Genotype-Phenotype Correlations and Implications for Genetic TestingParaskevi 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..Array-based studies are necessary for diagnostic confirmation of these defects and should be done in patients with unusual and severe phenotypes who are PRKAR1A mutation-negative. ..
- MASP2 gene polymorphism is associated with susceptibility to hepatitis C virus infectionSiumara 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...