Fabio R Faucz

Fabio R Faucz

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Fabio R Faucz

Publications by authors named "Fabio R Faucz"

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GPR101, an orphan GPCR with roles in growth and pituitary tumorigenesis.

Endocr Relat Cancer 2020 Apr 1. Epub 2020 Apr 1.

C Stratakis, Section Endocrinology and Genetics, NICHD, National Institutes of Health, Bethesda, United States.

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http://dx.doi.org/10.1530/ERC-20-0025DOI Listing
April 2020

Steroid hormone analysis of adolescents and young women with polycystic ovarian syndrome and adrenocortical dysfunction using UPC-MS/MS.

Pediatr Res 2020 Apr 4. Epub 2020 Apr 4.

Section on Genetics and Endocrinology (SEGEN), Intramural Research Program (IRP), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), Bethesda, MD, USA.

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http://dx.doi.org/10.1038/s41390-020-0870-1DOI Listing
April 2020

Letter to the editor: IGSF1 Deficiency Results in Human and Murine Somatotrope Neurosecretory Hyperfunction.

J Clin Endocrinol Metab 2020 Mar 24. Epub 2020 Mar 24.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH). Bethesda, MD, USA.

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http://dx.doi.org/10.1210/clinem/dgaa146DOI Listing
March 2020

Germline CDKN1B loss-of-function variants cause pediatric Cushing's disease with or without an MEN4 phenotype.

J Clin Endocrinol Metab 2020 Mar 31. Epub 2020 Mar 31.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH). 10 Center Drive, CRC, Bethesda, MD, USA.

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http://dx.doi.org/10.1210/clinem/dgaa160DOI Listing
March 2020

Mosaicism for KCNJ5 Causing Early-Onset Primary Aldosteronism due to Bilateral Adrenocortical Hyperplasia.

Am J Hypertens 2020 Feb;33(2):124-130

Section on Genetics & Endocrinology, The Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1093/ajh/hpz172DOI Listing
February 2020

High expression of adrenal P450 aromatase (CYP19A1) in association with ARMC5-primary bilateral macronodular adrenocortical hyperplasia.

J Steroid Biochem Mol Biol 2019 07 20;191:105316. Epub 2019 Apr 20.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jsbmb.2019.02.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6615475PMC
July 2019

ARMC 5 Variants and Risk of Hypertension in Blacks: MH- GRID Study.

J Am Heart Assoc 2019 Jul 3;8(14):e012508. Epub 2019 Jul 3.

1 Section on Endocrinology and Genetics Eunice Kennedy Shriver National Institute of Child Health and Human Development National Institutes of Health Bethesda MD.

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http://dx.doi.org/10.1161/JAHA.119.012508DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6662143PMC
July 2019

Somatic Gene Mutation in a Nonsyndromic Metastatic Large Cell Calcifying Sertoli Cell Tumor.

J Endocr Soc 2019 Jul 10;3(7):1375-1382. Epub 2019 May 10.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1210/js.2019-00022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6608558PMC
July 2019

SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency.

J Clin Endocrinol Metab 2019 05;104(5):1484-1490

Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics & Pediatric Endocrinology Inter-Institute Training Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.

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https://academic.oup.com/jcem/advance-article/doi/10.1210/jc
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http://dx.doi.org/10.1210/jc.2018-02238DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6435096PMC
May 2019

Large Genomic Aberrations in Corticotropinomas Are Associated With Greater Aggressiveness.

J Clin Endocrinol Metab 2019 05;104(5):1792-1801

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1210/jc.2018-02164DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6452317PMC
May 2019

Succinate dehydrogenase (SDH) deficiency, Carney triad and the epigenome.

Mol Cell Endocrinol 2018 07 21;469:107-111. Epub 2017 Jul 21.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, USA.

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http://dx.doi.org/10.1016/j.mce.2017.07.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5776069PMC
July 2018

Successful Treatment of Estrogen Excess in Primary Bilateral Macronodular Adrenocortical Hyperplasia with Leuprolide Acetate.

Horm Metab Res 2018 02 28;50(2):124-132. Epub 2017 Nov 28.

Section on Endocrinology & Genetics (SEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, USA.

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http://dx.doi.org/10.1055/s-0043-122074DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6343127PMC
February 2018

Medullary thyroid cancer, leukemia, mesothelioma and meningioma associated with germline APC and RASAL1 variants: a new syndrome?

Hormones (Athens) 2017 Oct;16(4):423-428

1st Department of Internal Medicine, Laiko Hospital, Medical School, National and Kapodistrian University of Athens, 75 Mikras Asias Str., Goudi, 11527, Athens, Greece.

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http://dx.doi.org/10.14310/horm.2002.1763DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6341468PMC
October 2017

Mucinous Cystadenoma in Children and Adolescents.

J Pediatr Adolesc Gynecol 2017 Aug 16;30(4):495-498. Epub 2017 Feb 16.

Children's National Medical Center, MedStar Washington Hospital Center, Washington, DC.

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http://dx.doi.org/10.1016/j.jpag.2017.02.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6379898PMC
August 2017

Somatic USP8 Gene Mutations Are a Common Cause of Pediatric Cushing Disease.

J Clin Endocrinol Metab 2017 08;102(8):2836-2843

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892.

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http://dx.doi.org/10.1210/jc.2017-00161DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5546857PMC
August 2017

Loss-of-function mutations in the gene are a novel cause of Cushing's disease.

Endocr Relat Cancer 2017 08 22;24(8):379-392. Epub 2017 May 22.

Section on Endocrinology and GeneticsEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA

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http://dx.doi.org/10.1530/ERC-17-0131DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5510591PMC
August 2017

Corticotropinoma as a Component of Carney Complex.

J Endocr Soc 2017 Jul 30;1(7):918-925. Epub 2017 May 30.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892.

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http://dx.doi.org/10.1210/js.2017-00231DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5686778PMC
July 2017

Sporadic melanotic schwannoma with overlapping features of melanocytoma bearing a GNA11 mutation in an adolescent girl.

Pediatr Blood Cancer 2017 06 24;64(6). Epub 2016 Dec 24.

Section on Endocrinology & Genetics, Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland.

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http://dx.doi.org/10.1002/pbc.26400DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6309823PMC
June 2017

Prkar1a gene knockout in the pancreas leads to neuroendocrine tumorigenesis.

Endocr Relat Cancer 2017 01 1;24(1):31-40. Epub 2016 Nov 1.

Section on Endocrinology and GeneticsProgram on Developmental Endocrinology & Genetics (PDEGEN) & Pediatric Endocrinology Inter-institute Training Program, Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA

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http://dx.doi.org/10.1530/ERC-16-0443DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5123945PMC
January 2017

Alterations of Phosphodiesterases in Adrenocortical Tumors.

Front Endocrinol (Lausanne) 2016 30;7:111. Epub 2016 Aug 30.

Program on Developmental Endocrinology and Genetics (PDEGEN), Section on Endocrinology and Genetics (SEGEN), National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH) , Bethesda, MD , USA.

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http://dx.doi.org/10.3389/fendo.2016.00111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5003917PMC
September 2016

Characterization of GPR101 transcript structure and expression patterns.

J Mol Endocrinol 2016 08 9;57(2):97-111. Epub 2016 Jun 9.

Section on Endocrinology and GeneticsEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA

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http://dx.doi.org/10.1530/JME-16-0045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4959428PMC
August 2016

Familiar Papillary Thyroid Carcinoma in a Large Brazilian Family Is Not Associated with Succinate Dehydrogenase Defects.

Eur Thyroid J 2016 Jul 10;5(2):94-9. Epub 2016 Mar 10.

Group for Advanced Molecular Investigation (NIMA), Graduate Program in Health Sciences (PPGCS), School of Medicine (EM), Pontifícia Universidade Católica do Paraná (PUCPR), Curitiba, Brazil; Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics (PDEGEN) and Pediatric Endocrinology Inter-Institute Training Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Md., USA.

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http://dx.doi.org/10.1159/000444522DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4949364PMC
July 2016

A novel truncating AIP mutation, p.W279*, in a familial isolated pituitary adenoma (FIPA) kindred.

Hormones (Athens) 2016 07;15(3):441-444

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, 20892, USA.

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http://dx.doi.org/10.14310/horm.2002.1686DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6309374PMC
July 2016

Screening for GPR101 defects in pediatric pituitary corticotropinomas.

Endocr Relat Cancer 2016 06 1;23(5):357-365. Epub 2016 Jun 1.

C Stratakis, Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, United States

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http://dx.doi.org/10.1530/ERC-16-0091DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5017905PMC
June 2016

McCune Albright syndrome and bilateral adrenal hyperplasia: the GNAS mutation may only be present in adrenal tissue.

Hormones (Athens) 2015 Jul-Sep;14(3):447-50

Section on Endocrinology & Genetics, Program on Developmental Endocrinology & Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH, Bethesda, USA.

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http://dx.doi.org/10.14310/horm.2002.1578DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6341467PMC
May 2016

Carney triad can be (rarely) associated with germline succinate dehydrogenase defects.

Eur J Hum Genet 2016 Apr 15;24(4):569-73. Epub 2015 Jul 15.

Section on Endocrinology and Genetics (SEGEN), Program on Developmental Endocrinology and Genetics (PDEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, USA.

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http://dx.doi.org/10.1038/ejhg.2015.142DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4929866PMC
April 2016

Kidney Stones as an Underrecognized Clinical Sign in Pediatric Cushing Disease.

J Pediatr 2016 Mar 15;170:273-7.e1. Epub 2015 Dec 15.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD.

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http://dx.doi.org/10.1016/j.jpeds.2015.11.045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4769940PMC
March 2016

Celecoxib reduces glucocorticoids in vitro and in a mouse model with adrenocortical hyperplasia.

Endocr Relat Cancer 2016 Jan 5;23(1):15-25. Epub 2015 Oct 5.

Section on Endocrinology and Genetics (SEGEN)Program on Developmental Endocrinology and Genetics (PDEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, 10 Center Drive, Building 10-Clinical Research Center, Room 1-3330, Bethesda, Maryland 20892, USAOffice of Research Services (ORS)Division of Veterinary Resources (DVR), Office of the Director (OD), National Institutes of Health, Bethesda, Maryland 20892, USACNRS UMR6247Génétique Reproduction et Développement, Clermont Université, Aubière, France.

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http://dx.doi.org/10.1530/ERC-15-0472DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4659722PMC
January 2016

Pseudohypoaldosteronism type 1 due to novel variants of SCNN1B gene.

Endocrinol Diabetes Metab Case Rep 2016 7;2016:150104. Epub 2016 Jan 7.

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, BG 10-CRC, Room 1-3216, 10 Center Drive, Bethesda, Maryland, 20814, USA; Johns Hopkins University School of Medicine, Division of Endocrinology, Diabetes, and Metabolism, Baltimore, Maryland, 21287, USA; Suburban Hospital, Bethesda, Maryland, 20814, USA.

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http://dx.doi.org/10.1530/EDM-15-0104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4722246PMC
January 2016

Rare inactivating PDE11A variants associated with testicular germ cell tumors.

Endocr Relat Cancer 2015 Dec;22(6):909-17

Clinical Genetics BranchDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USAProgram on Developmental Endocrinology and GeneticsEunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland, USACancer Genomics Research LaboratoryDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, Maryland, USAPerelman School of MedicineAbramson Cancer Center, University of Pennsylvania, Philadelphia, Pennsylvania, USAGenetic Epidemiology BranchHormonal and Reproductive Epidemiology BranchDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, 9609 Medical Center Drive, Room 6E422, Rockville, Maryland 20850, USA

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http://dx.doi.org/10.1530/ERC-15-0034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5812348PMC
December 2015

Haploinsufficiency for either one of the type-II regulatory subunits of protein kinase A improves the bone phenotype of Prkar1a+/- mice.

Hum Mol Genet 2015 Nov 5;24(21):6080-92. Epub 2015 Aug 5.

Section on Endocrinology and Genetics (SEGEN), Program on Developmental Endocrinology & Genetics (PDEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD),

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http://dx.doi.org/10.1093/hmg/ddv320DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4599668PMC
November 2015

The ARMC5 gene shows extensive genetic variance in primary macronodular adrenocortical hyperplasia.

Eur J Endocrinol 2015 Oct 10;173(4):435-40. Epub 2015 Jul 10.

Section on Endocrinology and GeneticsProgram on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, NIH-Clinical Research Center, 10 Center Drive, Building 10, Room 1-3330, MSC1103, Bethesda, Maryland 20892, USADepartment of Radiology and Imaging SciencesNational Institutes of Health (NIH), Clinical Center, Bethesda, Maryland 20892, USADepartment of EndocrinologyMetabolism, and Diabetes, Institut National de la Santé et de la Recherche Médicale (INSERM) Unit 1016, Institut Cochin, Centre National de la Recherche Scientifique (CNRS) UMR 8104, 75014 Paris, FranceGroup for Advanced Molecular InvestigationGraduate Program in Health Science, Medical School, Pontificia Universidade Catolica do Paraná, Curitiba, Paraná, Brazil.

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http://dx.doi.org/10.1530/EJE-15-0205DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4572515PMC
October 2015

Phosphodiesterase sequence variants may predispose to prostate cancer.

Endocr Relat Cancer 2015 Aug 15;22(4):519-30. Epub 2015 May 15.

Section on Endocrinology and GeneticsProgram on Developmental Endocrinology and Genetics (PDEGEN) and Pediatric Endocrinology Inter-institute Training Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD 20892, USASchool of Health and BiosciencesPontifícia Universidade Católica do Paraná (PUCPR), Curitiba, PR 80215-901, BrazilDepartment of Pharmacology and PhysiologyGeorge Washington University, Washington, DC 20037, USALaboratory of Genomics and Molecular BiologyCIPEDepartment of PathologyA.C. Camargo Cancer Center, 01509-010 São Paulo, SP, BrazilDepartment of StatisticsGeorge Washington University, Washington, DC 20037, USA Section on Endocrinology and GeneticsProgram on Developmental Endocrinology and Genetics (PDEGEN) and Pediatric Endocrinology Inter-institute Training Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD 20892, USASchool of Health and BiosciencesPontifícia Universidade Católica do Paraná (PUCPR), Curitiba, PR 80215-901, BrazilDepartment of Pharmacology and PhysiologyGeorge Washington University, Washington, DC 20037, USALaboratory of Genomics and Molecular BiologyCIPEDepartment of PathologyA.C. Camargo Cancer Center, 01509-010 São Paulo, SP, BrazilDepartment of StatisticsGeorge Washington University, Washington, DC 20037, USA

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http://dx.doi.org/10.1530/ERC-15-0134DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4499475PMC
August 2015

X-linked acrogigantism syndrome: clinical profile and therapeutic responses.

Endocr Relat Cancer 2015 Jun 24;22(3):353-67. Epub 2015 Feb 24.

Department of EndocrinologyCentre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart-Tilman, 4000 Liège, BelgiumProgram on Developmental Endocrinology and GeneticsSection on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), NIH-Clinical Research Center, 10 Center Drive, Building 10, Room 1-3330, MSC1103, Bethesda, Maryland 20892-1862, USAHelmholtz Zentrum MünchenInstitute of Pathology, Neuherberg, GermanyDepartment of Molecular and Human GeneticsBaylor College of Medicine, Houston, Texas, USADepartment of Pediatric Endocrinology and DiabetesPrincess Margaret Hospital for Children, Subiaco, Western Australia, AustraliaDepartment of Clinical GeneticsCentre Hospitalier Universitaire de Liège, University of Liège, Liège, BelgiumEndocrinology and Diabetology UnitFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Department of Clinical Sciences and Community Health, University of Milan, Milan, ItalyDepartment of EndocrinologyUniversity of Brasilia, Brasilia, BrazilDepartment of Paediatric EndocrinologyRoyal Victoria Infirmary, Newcastle University, Newcastle upon Tyne, UKINSERM U 693GHU Paris-Sud - Hôpital de Bicêtre, 78 rue du Général Leclerc, 94270 Le Kremlin-Bicêtre, FrancePediatric Endocrinology UnitUniversité Catholique de Louvain, Bruxelles, BelgiumMater Medical Research InstituteUniversity of Queensland, Brisbane, Queensland, AustraliaDepartment of EndocrinologyKEM Hospital, Mumbai, IndiaEndocrinology and Diabetes UnitBC Children's Hospital, Vancouver, British Columbia, CanadaSection of EndocrinologyDepartment of Medical Sciences, University of Ferrara, Ferrara, ItalyService d'Anatomie et Cytologie PathologiquesHopital Foch, Suresnes, FranceINSERM Unité 1016Institut Cochin, Hopital Cochin, Université Paris Descartes, Paris, FranceInstitute of Pediatric EndocrinologyEndocrinological Research Centre, Moscow

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http://dx.doi.org/10.1530/ERC-15-0038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4433400PMC
June 2015

Carney triad, SDH-deficient tumors, and Sdhb+/- mice share abnormal mitochondria.

Endocr Relat Cancer 2015 Jun 25;22(3):345-52. Epub 2015 Mar 25.

Section on Endocrinology and Genetics (SEGEN)Program on Developmental Endocrinology and Genetics (PDEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, Room 1-3330, 10 Center Drive, MSC1103, Bethesda, Maryland 20892, USADepartment of Biophysics and Nuclear MedicineUniversity Hospitals of Strasbourg, Strasbourg, FranceFaculty of MedicineIcube UMR 7357 University of Strasbourg/CNRS and FMTS, Strasbourg, FranceLaboratory of PathologyNational Cancer Institute (NCI), NIH, Bethesda, Maryland 20892, USASection on Medical Neuroendocrinology (SMN)Program on Reproductive and Adult Endocrinology (PRAE), NICHD, NIH, Bethesda, Maryland 20892, USASection of Immunopathology and Laboratory of ImmunologyNational Eye Institute, U.S. National Institutes of Health, Bethesda, Maryland 20892, USADepartment of Nuclear MedicineLa Timone University Hospital, CERIMED, 264, Rue Saint-Pierre, 13385 Marseille Cedex 5, FranceInstitut Paoli-CalmettesInserm UMR1068 Marseille Cancerology Research Center, Marseille, FranceEmeritus Staff CenterMayo Clinic Rochester, 200 First Street Southwest, Rochester, Minnesota 55905, USA

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http://dx.doi.org/10.1530/ERC-15-0069DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4433412PMC
June 2015

Primary Aldosteronism and ARMC5 Variants.

J Clin Endocrinol Metab 2015 Jun 30;100(6):E900-9. Epub 2015 Mar 30.

Section on Endocrinology and Genetics (M.Z., P.X., F.R.F., A.B., A.G., M.H.S.-R., M.B., S.B.A., S.E., M.B.L., C.A.S.), Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892; Biostatistics and Clinical Epidemiology Service (N.S.), Clinical Center, National Institutes of Health, Bethesda, Maryland 20892; Laboratory of Pathology (M.M.Q., M.M.), Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892; Department of Pediatrics (A.H.), University Hospitals Case Medical Center, Rainbow Babies and Children's Hospital, Cleveland, Ohio 44106; Cardiovascular Disease Section (R.L., G.A., L.D., B.R.), Genomics of Metabolic, Cardiovascular, and Inflammatory Disease Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892; Department of Endocrinology, Metabolism, and Diabetes (A.D., S.Y.G., R.N., J.B.), Inserm Unit 1016, Centre National de la Recherche Scientifique UMR 8104, Institut Cochin, 75014 Paris, France; and Endocrine Oncology Branch (E.K.), National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892.

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http://dx.doi.org/10.1210/jc.2014-4167DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4454793PMC
June 2015

Is IGSF1 involved in human pituitary tumor formation?

Endocr Relat Cancer 2015 Feb 19;22(1):47-54. Epub 2014 Dec 19.

Section on Endocrinology and GeneticsProgram on Developmental Endocrinology and Genetics (PDEGEN) Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, NIH-Clinical Research Center, 10 Center Drive, Building 10, Room 1-3330, MSC1103, Bethesda, Maryland 20892, USAGroup for Advanced Molecular InvestigationGraduate Program in Health Science, Medical School, Pontificia Universidade Catolica do Paraná, Curitiba 80215, BrazilDepartment of Pharmacology and TherapeuticsMcGill University, Montréal, Québec, Canada H3G 1Y6Pediatric Endocrinology Inter-institute Training ProgramEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland 20892, USAThe Liggins InstituteUniversity of Auckland, Auckland 1023, New ZealandTaranaki Base HospitalNew Plymouth 4310, New ZealandAuckland City Hospital & Greenlane Clinical CentreAuckland 1142, New ZealandDepartment of NeurosurgeryUniversity of Virginia Health Sciences Center, University of Virginia, Charlottesville, Virginia 22904, USASurgical Neurology BranchNational Institute for Neurological Diseases and Stroke (NINDS), National Institutes of Health, Bethesda, Maryland 20892, USA Departments ofEndocrinology and Metabolic DisordersPediatricsLeiden University Medical Center, Leiden 2333, The Netherlands Section on Endocrinology and GeneticsProgram on Developmental Endocrinology and Genetics (PDEGEN) Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, NIH-Clinical Research Center, 10 Center Drive, Building 10, Room 1-3330, MSC1103, Bethesda, Maryland 20892, USAGroup for Advanced Molecular InvestigationGraduate Program in Health Science, Medical School, Pontificia Universidade Catolica do Paraná, Curitiba 80215, BrazilDepartment of Pharmacology and TherapeuticsMcGill University, Montréal, Québec, Canada H3G 1Y6Pediatric

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http://dx.doi.org/10.1530/ERC-14-0465DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4272759PMC
February 2015

Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad.

Endocr Relat Cancer 2014 Aug 23;21(4):567-77. Epub 2014 May 23.

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, Université Paris Descartes, Sorbonne Paris Cité, Paris, FranceDepartment of EndocrinologyReferal Center for Rare Adrenal Diseases, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, FranceInstitute of PathologyUniversity Medical Center, Georg-August University, Göttingen, 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.

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http://dx.doi.org/10.1530/ERC-14-0254DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4722532PMC
August 2014

Macronodular adrenal hyperplasia due to mutations in an armadillo repeat containing 5 (ARMC5) gene: a clinical and genetic investigation.

J Clin Endocrinol Metab 2014 Jun 6;99(6):E1113-9. Epub 2014 Mar 6.

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 Paraná, 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 Unité Mixte de Recherche 8104, Institut Cochin, 75014 Paris, France.

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http://dx.doi.org/10.1210/jc.2013-4280DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4037724PMC
June 2014

Clinical and molecular genetics of the phosphodiesterases (PDEs).

Endocr Rev 2014 Apr 5;35(2):195-233. Epub 2013 Dec 5.

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 & 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 Paraná, 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.

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http://dx.doi.org/10.1210/er.2013-1053DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3963262PMC
April 2014

Integrated analysis of genome-wide methylation and gene expression shows epigenetic regulation of CYP11B2 in aldosteronomas.

J Clin Endocrinol Metab 2014 Mar 11;99(3):E536-43. Epub 2013 Dec 11.

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.

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http://dx.doi.org/10.1210/jc.2013-3495DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3942229PMC
March 2014

Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing.

J Clin Endocrinol Metab 2014 Jan 20;99(1):E183-8. Epub 2013 Dec 20.

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.

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http://dx.doi.org/10.1210/jc.2013-3159DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3879675PMC
January 2014

Cyclic AMP and c-KIT signaling in familial testicular germ cell tumor predisposition.

J Clin Endocrinol Metab 2013 Aug 14;98(8):E1393-400. Epub 2013 Jun 14.

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.

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http://dx.doi.org/10.1210/jc.2012-2838DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3733859PMC
August 2013

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.

Clin Endocrinol (Oxf) 2012 Aug;77(2):195-9

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.

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http://dx.doi.org/10.1111/j.1365-2265.2012.04366.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3360985PMC
August 2012

MASP2 gene polymorphism is associated with susceptibility to hepatitis C virus infection.

Hum Immunol 2011 Oct 31;72(10):912-5. Epub 2011 Jul 31.

Department of Medical Pathology, Hospital de Clinicas, Federal University of Paraná, Curitiba, PR, Brazil.

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http://dx.doi.org/10.1016/j.humimm.2011.06.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7115369PMC
October 2011

CFTR allelic heterogeneity in Brazil: historical and geographical perspectives and implications for screening and counseling for cystic fibrosis in this country.

J Hum Genet 2010 Feb 27;55(2):71-6. Epub 2009 Nov 27.

Center for Health and Biological Sciences, Pontifícia Universidade Católica do Paraná, Curitiba, Brazil.

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http://dx.doi.org/10.1038/jhg.2009.123DOI Listing
February 2010