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Ying Ni
Ying Ni
Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
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Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
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Spencer Seballos
Spencer Seballos
Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
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Shireen Ganapathi
Shireen Ganapathi
Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
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Danielle Gurin
Danielle Gurin
Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
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Benjamin Fletcher
Benjamin Fletcher
Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
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Joanne Ngeow
Joanne Ngeow
Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
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Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
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Rebecca Nagy
Rebecca Nagy
Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
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Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
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Richard T Kloos
Richard T Kloos
Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
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Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
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Matthew D Ringel
Matthew D Ringel
Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
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Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
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Thomas LaFramboise
Thomas LaFramboise
Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
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Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
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Charis Eng
Charis Eng
Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
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Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
Genomic Medicine Institute, Taussig Cancer Institute, Stanley Shalom Zielony Nursing Institute, Division of Medical Oncology, Divisions of Human Genetics, Endocrinology and Metabolism, Comprehensive Cancer Center, Departments of Genetics and Genome Sciences, Epidemiology and Biostatistics, CASE Comprehensive Cancer Center, Lerner Research Institute
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whether germline SDHB/C/D ( SDHx ) variants could also occur in PTEN (MIM 601728) mutation-negative CS/CS-like individuals. Indeed, we found 8–10% of such patients carry SDHx mutations ( Ni et al . 2008 , 2012 ). CS/CS-like individuals with
Ales Vicha
Ales Vicha
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David Taieb
David Taieb
Department of Pediatric Hematology and Oncology, Service Central de Biophysique et de Médecine Nucléaire, Département d'Oncologie Moléculaire, Program in Reproductive and Adult Endocrinology, 2nd Medical School, Charles University and University Hospital Motol, Prague, Czech Republic
Department of Pediatric Hematology and Oncology, Service Central de Biophysique et de Médecine Nucléaire, Département d'Oncologie Moléculaire, Program in Reproductive and Adult Endocrinology, 2nd Medical School, Charles University and University Hospital Motol, Prague, Czech Republic
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Department of Pediatric Hematology and Oncology, Service Central de Biophysique et de Médecine Nucléaire, Département d'Oncologie Moléculaire, Program in Reproductive and Adult Endocrinology, 2nd Medical School, Charles University and University Hospital Motol, Prague, Czech Republic
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Karel Pacak
Karel Pacak
Department of Pediatric Hematology and Oncology, Service Central de Biophysique et de Médecine Nucléaire, Département d'Oncologie Moléculaire, Program in Reproductive and Adult Endocrinology, 2nd Medical School, Charles University and University Hospital Motol, Prague, Czech Republic
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SDHx ( SDHD , SDHB , SDHC , SDHA , and SDHAF2 ) mutations and also accounts for about 30% of sporadic tumors ( Dahia et al . 2005 , Lopez-Jimenez et al . 2010 , Burnichon et al . 2011 ). The second group (cluster 2) represents tumors carrying
Henri J L M Timmers
Henri J L M Timmers
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Anne-Paule Gimenez-Roqueplo
Anne-Paule Gimenez-Roqueplo
Department of Endocrinology, Assistance Publique-Hôpitaux de Paris, Université Paris Descartes, INSERM, Endocrinology Unit, Reproductive and Adult Endocrinology Program, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
Department of Endocrinology, Assistance Publique-Hôpitaux de Paris, Université Paris Descartes, INSERM, Endocrinology Unit, Reproductive and Adult Endocrinology Program, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
Department of Endocrinology, Assistance Publique-Hôpitaux de Paris, Université Paris Descartes, INSERM, Endocrinology Unit, Reproductive and Adult Endocrinology Program, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
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Department of Endocrinology, Assistance Publique-Hôpitaux de Paris, Université Paris Descartes, INSERM, Endocrinology Unit, Reproductive and Adult Endocrinology Program, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
Department of Endocrinology, Assistance Publique-Hôpitaux de Paris, Université Paris Descartes, INSERM, Endocrinology Unit, Reproductive and Adult Endocrinology Program, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
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Massimo Mannelli
Massimo Mannelli
Department of Endocrinology, Assistance Publique-Hôpitaux de Paris, Université Paris Descartes, INSERM, Endocrinology Unit, Reproductive and Adult Endocrinology Program, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
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Karel Pacak
Karel Pacak
Department of Endocrinology, Assistance Publique-Hôpitaux de Paris, Université Paris Descartes, INSERM, Endocrinology Unit, Reproductive and Adult Endocrinology Program, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
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syndromes with which sPGL is associated are multiple endocrine neoplasia type 2 ( RET mutations), von Hippel-Lindau disease ( VHL mutations), hereditary PGL/pheochromocytoma syndromes ( SDHx mutations), and rarely neurofibromatosis type 1 ( NF1 mutations
Priya Gopie
Priya Gopie
Massey Cancer Center, VCU School of Medicine, Virginia Commonwealth University, Richmond, Virginia, USA
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Lin Mei
Lin Mei
Massey Cancer Center, VCU School of Medicine, Virginia Commonwealth University, Richmond, Virginia, USA
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Anthony C Faber
Anthony C Faber
Phillips Institute for Oral Health Research, VCU School of Dentistry and Massey Cancer Center, Virginia Commonwealth University, Richmond, Virginia, USA
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Steven R Grossman
Steven R Grossman
Massey Cancer Center, VCU School of Medicine, Virginia Commonwealth University, Richmond, Virginia, USA
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Steven C Smith
Steven C Smith
Departments of Pathology and Surgery, VCU School of Medicine, Virginia Commonwealth University, Richmond, Virginia, USA
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Sosipatros A Boikos
Sosipatros A Boikos
Massey Cancer Center, VCU School of Medicine, Virginia Commonwealth University, Richmond, Virginia, USA
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been found to harbor mutations in other genes, including platelet-derived growth factor (PDGF) receptor alpha ( PDGFRA ), succinate dehydrogenase complex subunits ( SDHx ), neurofibromin 1 ( NF1 ), B-raf proto-oncogene ( BRAF ) and most recently
M Montani
M Montani
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A M Schmitt
A M Schmitt
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S Schmid
S Schmid
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T Locher
T Locher
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P Saremaslani
P Saremaslani
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P U Heitz
P U Heitz
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P Komminoth
P Komminoth
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A Perren
A Perren
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in all informative exons of SDHB , SDHC and SDHD . However, 12 of 35 patients (34.3%) showed SDHx germline alterations, present in neoplastic as well as in non-neoplastic tissue. SDHB In intron 2 of SDHB , germline
Paraskevi Xekouki
Paraskevi Xekouki
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), Inter-Institute Pediatric Endocrinology Program, National Institutes of Health (NIH), Building 10, CRC, Room 1-3330, 10 Center Drive, MSC1103, Bethesda, Maryland 20892, USA
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Constantine A Stratakis
Constantine A Stratakis
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), Inter-Institute Pediatric Endocrinology Program, National Institutes of Health (NIH), Building 10, CRC, Room 1-3330, 10 Center Drive, MSC1103, Bethesda, Maryland 20892, USA
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holotetramer to the membrane and serve as the ubiquinone site ( Oyedotun & Lemire 2004 , Kantorovich & Pacak 2010 ). Syndromes related to SDHx mutations The discovery that mutations in genes coding for the subunits SDHB , SDHC , and SDHD were responsible
Maya B Lodish
Maya B Lodish
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Karen T Adams
Karen T Adams
Section on Endocrinology and Genetics and Pediatric Endocrinology Program, Reproductive Biology and Adult Endocrinology Program, Department of Diagnostic Radiology, Department of Pediatric Oncology, The University of Texas M.D. Anderson Cancer Center, Pathology, Surgery, Department of Laboratory Medicine and Pathology, Program on Developmental Endocrinology and Genetics (PDEGEN), National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, 10 Center Drive, Room 1-3330, Bethesda, Maryland 20892, USA
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Thanh T Huynh
Thanh T Huynh
Section on Endocrinology and Genetics and Pediatric Endocrinology Program, Reproductive Biology and Adult Endocrinology Program, Department of Diagnostic Radiology, Department of Pediatric Oncology, The University of Texas M.D. Anderson Cancer Center, Pathology, Surgery, Department of Laboratory Medicine and Pathology, Program on Developmental Endocrinology and Genetics (PDEGEN), National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, 10 Center Drive, Room 1-3330, Bethesda, Maryland 20892, USA
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Tamara Prodanov
Tamara Prodanov
Section on Endocrinology and Genetics and Pediatric Endocrinology Program, Reproductive Biology and Adult Endocrinology Program, Department of Diagnostic Radiology, Department of Pediatric Oncology, The University of Texas M.D. Anderson Cancer Center, Pathology, Surgery, Department of Laboratory Medicine and Pathology, Program on Developmental Endocrinology and Genetics (PDEGEN), National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, 10 Center Drive, Room 1-3330, Bethesda, Maryland 20892, USA
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Alex Ling
Alex Ling
Section on Endocrinology and Genetics and Pediatric Endocrinology Program, Reproductive Biology and Adult Endocrinology Program, Department of Diagnostic Radiology, Department of Pediatric Oncology, The University of Texas M.D. Anderson Cancer Center, Pathology, Surgery, Department of Laboratory Medicine and Pathology, Program on Developmental Endocrinology and Genetics (PDEGEN), National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, 10 Center Drive, Room 1-3330, Bethesda, Maryland 20892, USA
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Clara Chen
Clara Chen
Section on Endocrinology and Genetics and Pediatric Endocrinology Program, Reproductive Biology and Adult Endocrinology Program, Department of Diagnostic Radiology, Department of Pediatric Oncology, The University of Texas M.D. Anderson Cancer Center, Pathology, Surgery, Department of Laboratory Medicine and Pathology, Program on Developmental Endocrinology and Genetics (PDEGEN), National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, 10 Center Drive, Room 1-3330, Bethesda, Maryland 20892, USA
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Suzanne Shusterman
Suzanne Shusterman
Section on Endocrinology and Genetics and Pediatric Endocrinology Program, Reproductive Biology and Adult Endocrinology Program, Department of Diagnostic Radiology, Department of Pediatric Oncology, The University of Texas M.D. Anderson Cancer Center, Pathology, Surgery, Department of Laboratory Medicine and Pathology, Program on Developmental Endocrinology and Genetics (PDEGEN), National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, 10 Center Drive, Room 1-3330, Bethesda, Maryland 20892, USA
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Camilo Jimenez
Camilo Jimenez
Section on Endocrinology and Genetics and Pediatric Endocrinology Program, Reproductive Biology and Adult Endocrinology Program, Department of Diagnostic Radiology, Department of Pediatric Oncology, The University of Texas M.D. Anderson Cancer Center, Pathology, Surgery, Department of Laboratory Medicine and Pathology, Program on Developmental Endocrinology and Genetics (PDEGEN), National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, 10 Center Drive, Room 1-3330, Bethesda, Maryland 20892, USA
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Maria Merino
Maria Merino
Section on Endocrinology and Genetics and Pediatric Endocrinology Program, Reproductive Biology and Adult Endocrinology Program, Department of Diagnostic Radiology, Department of Pediatric Oncology, The University of Texas M.D. Anderson Cancer Center, Pathology, Surgery, Department of Laboratory Medicine and Pathology, Program on Developmental Endocrinology and Genetics (PDEGEN), National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, 10 Center Drive, Room 1-3330, Bethesda, Maryland 20892, USA
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Marybeth Hughes
Marybeth Hughes
Section on Endocrinology and Genetics and Pediatric Endocrinology Program, Reproductive Biology and Adult Endocrinology Program, Department of Diagnostic Radiology, Department of Pediatric Oncology, The University of Texas M.D. Anderson Cancer Center, Pathology, Surgery, Department of Laboratory Medicine and Pathology, Program on Developmental Endocrinology and Genetics (PDEGEN), National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, 10 Center Drive, Room 1-3330, Bethesda, Maryland 20892, USA
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Kendall W Cradic
Kendall W Cradic
Section on Endocrinology and Genetics and Pediatric Endocrinology Program, Reproductive Biology and Adult Endocrinology Program, Department of Diagnostic Radiology, Department of Pediatric Oncology, The University of Texas M.D. Anderson Cancer Center, Pathology, Surgery, Department of Laboratory Medicine and Pathology, Program on Developmental Endocrinology and Genetics (PDEGEN), National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, 10 Center Drive, Room 1-3330, Bethesda, Maryland 20892, USA
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Dragana Milosevic
Dragana Milosevic
Section on Endocrinology and Genetics and Pediatric Endocrinology Program, Reproductive Biology and Adult Endocrinology Program, Department of Diagnostic Radiology, Department of Pediatric Oncology, The University of Texas M.D. Anderson Cancer Center, Pathology, Surgery, Department of Laboratory Medicine and Pathology, Program on Developmental Endocrinology and Genetics (PDEGEN), National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, 10 Center Drive, Room 1-3330, Bethesda, Maryland 20892, USA
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Ravinder J Singh
Ravinder J Singh
Section on Endocrinology and Genetics and Pediatric Endocrinology Program, Reproductive Biology and Adult Endocrinology Program, Department of Diagnostic Radiology, Department of Pediatric Oncology, The University of Texas M.D. Anderson Cancer Center, Pathology, Surgery, Department of Laboratory Medicine and Pathology, Program on Developmental Endocrinology and Genetics (PDEGEN), National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, 10 Center Drive, Room 1-3330, Bethesda, Maryland 20892, USA
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Constantine A Stratakis
Constantine A Stratakis
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Karel Pacak
Karel Pacak
Section on Endocrinology and Genetics and Pediatric Endocrinology Program, Reproductive Biology and Adult Endocrinology Program, Department of Diagnostic Radiology, Department of Pediatric Oncology, The University of Texas M.D. Anderson Cancer Center, Pathology, Surgery, Department of Laboratory Medicine and Pathology, Program on Developmental Endocrinology and Genetics (PDEGEN), National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, 10 Center Drive, Room 1-3330, Bethesda, Maryland 20892, USA
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). From an initial observation of two patients with Zuckerkandl organ tumors who had SDHx mutations, we searched our clinical database for other patients with tumors involving this organ; we then tested the DNA of these patients retrospectively for
Arthur Varoquaux
Arthur Varoquaux
Department of Medical Imaging, CNRS, Department of Biophysics and Nuclear Medicine, ICube, Department of Otorhinolaryngology–Head and Neck Surgery, Department of Otorhinolaryngology–Head and Neck Surgery, Program in Reproductive and Adult Endocrinology, Department of Nuclear Medicine, Biophysics and Nuclear Medicine, INSERM, La Timone University Hospital, Aix‐Marseille University, Marseille, France
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Yann le Fur
Yann le Fur
Department of Medical Imaging, CNRS, Department of Biophysics and Nuclear Medicine, ICube, Department of Otorhinolaryngology–Head and Neck Surgery, Department of Otorhinolaryngology–Head and Neck Surgery, Program in Reproductive and Adult Endocrinology, Department of Nuclear Medicine, Biophysics and Nuclear Medicine, INSERM, La Timone University Hospital, Aix‐Marseille University, Marseille, France
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Alessio Imperiale
Alessio Imperiale
Department of Medical Imaging, CNRS, Department of Biophysics and Nuclear Medicine, ICube, Department of Otorhinolaryngology–Head and Neck Surgery, Department of Otorhinolaryngology–Head and Neck Surgery, Program in Reproductive and Adult Endocrinology, Department of Nuclear Medicine, Biophysics and Nuclear Medicine, INSERM, La Timone University Hospital, Aix‐Marseille University, Marseille, France
Department of Medical Imaging, CNRS, Department of Biophysics and Nuclear Medicine, ICube, Department of Otorhinolaryngology–Head and Neck Surgery, Department of Otorhinolaryngology–Head and Neck Surgery, Program in Reproductive and Adult Endocrinology, Department of Nuclear Medicine, Biophysics and Nuclear Medicine, INSERM, La Timone University Hospital, Aix‐Marseille University, Marseille, France
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Department of Medical Imaging, CNRS, Department of Biophysics and Nuclear Medicine, ICube, Department of Otorhinolaryngology–Head and Neck Surgery, Department of Otorhinolaryngology–Head and Neck Surgery, Program in Reproductive and Adult Endocrinology, Department of Nuclear Medicine, Biophysics and Nuclear Medicine, INSERM, La Timone University Hospital, Aix‐Marseille University, Marseille, France
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Antony Reyre
Antony Reyre
Department of Medical Imaging, CNRS, Department of Biophysics and Nuclear Medicine, ICube, Department of Otorhinolaryngology–Head and Neck Surgery, Department of Otorhinolaryngology–Head and Neck Surgery, Program in Reproductive and Adult Endocrinology, Department of Nuclear Medicine, Biophysics and Nuclear Medicine, INSERM, La Timone University Hospital, Aix‐Marseille University, Marseille, France
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Marion Montava
Marion Montava
Department of Medical Imaging, CNRS, Department of Biophysics and Nuclear Medicine, ICube, Department of Otorhinolaryngology–Head and Neck Surgery, Department of Otorhinolaryngology–Head and Neck Surgery, Program in Reproductive and Adult Endocrinology, Department of Nuclear Medicine, Biophysics and Nuclear Medicine, INSERM, La Timone University Hospital, Aix‐Marseille University, Marseille, France
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Nicolas Fakhry
Nicolas Fakhry
Department of Medical Imaging, CNRS, Department of Biophysics and Nuclear Medicine, ICube, Department of Otorhinolaryngology–Head and Neck Surgery, Department of Otorhinolaryngology–Head and Neck Surgery, Program in Reproductive and Adult Endocrinology, Department of Nuclear Medicine, Biophysics and Nuclear Medicine, INSERM, La Timone University Hospital, Aix‐Marseille University, Marseille, France
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Izzie-Jacques Namer
Izzie-Jacques Namer
Department of Medical Imaging, CNRS, Department of Biophysics and Nuclear Medicine, ICube, Department of Otorhinolaryngology–Head and Neck Surgery, Department of Otorhinolaryngology–Head and Neck Surgery, Program in Reproductive and Adult Endocrinology, Department of Nuclear Medicine, Biophysics and Nuclear Medicine, INSERM, La Timone University Hospital, Aix‐Marseille University, Marseille, France
Department of Medical Imaging, CNRS, Department of Biophysics and Nuclear Medicine, ICube, Department of Otorhinolaryngology–Head and Neck Surgery, Department of Otorhinolaryngology–Head and Neck Surgery, Program in Reproductive and Adult Endocrinology, Department of Nuclear Medicine, Biophysics and Nuclear Medicine, INSERM, La Timone University Hospital, Aix‐Marseille University, Marseille, France
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Department of Medical Imaging, CNRS, Department of Biophysics and Nuclear Medicine, ICube, Department of Otorhinolaryngology–Head and Neck Surgery, Department of Otorhinolaryngology–Head and Neck Surgery, Program in Reproductive and Adult Endocrinology, Department of Nuclear Medicine, Biophysics and Nuclear Medicine, INSERM, La Timone University Hospital, Aix‐Marseille University, Marseille, France
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Guy Moulin
Guy Moulin
Department of Medical Imaging, CNRS, Department of Biophysics and Nuclear Medicine, ICube, Department of Otorhinolaryngology–Head and Neck Surgery, Department of Otorhinolaryngology–Head and Neck Surgery, Program in Reproductive and Adult Endocrinology, Department of Nuclear Medicine, Biophysics and Nuclear Medicine, INSERM, La Timone University Hospital, Aix‐Marseille University, Marseille, France
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Karel Pacak
Karel Pacak
Department of Medical Imaging, CNRS, Department of Biophysics and Nuclear Medicine, ICube, Department of Otorhinolaryngology–Head and Neck Surgery, Department of Otorhinolaryngology–Head and Neck Surgery, Program in Reproductive and Adult Endocrinology, Department of Nuclear Medicine, Biophysics and Nuclear Medicine, INSERM, La Timone University Hospital, Aix‐Marseille University, Marseille, France
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Maxime Guye
Maxime Guye
Department of Medical Imaging, CNRS, Department of Biophysics and Nuclear Medicine, ICube, Department of Otorhinolaryngology–Head and Neck Surgery, Department of Otorhinolaryngology–Head and Neck Surgery, Program in Reproductive and Adult Endocrinology, Department of Nuclear Medicine, Biophysics and Nuclear Medicine, INSERM, La Timone University Hospital, Aix‐Marseille University, Marseille, France
Department of Medical Imaging, CNRS, Department of Biophysics and Nuclear Medicine, ICube, Department of Otorhinolaryngology–Head and Neck Surgery, Department of Otorhinolaryngology–Head and Neck Surgery, Program in Reproductive and Adult Endocrinology, Department of Nuclear Medicine, Biophysics and Nuclear Medicine, INSERM, La Timone University Hospital, Aix‐Marseille University, Marseille, France
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Department of Medical Imaging, CNRS, Department of Biophysics and Nuclear Medicine, ICube, Department of Otorhinolaryngology–Head and Neck Surgery, Department of Otorhinolaryngology–Head and Neck Surgery, Program in Reproductive and Adult Endocrinology, Department of Nuclear Medicine, Biophysics and Nuclear Medicine, INSERM, La Timone University Hospital, Aix‐Marseille University, Marseille, France
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David Taïeb
David Taïeb
Department of Medical Imaging, CNRS, Department of Biophysics and Nuclear Medicine, ICube, Department of Otorhinolaryngology–Head and Neck Surgery, Department of Otorhinolaryngology–Head and Neck Surgery, Program in Reproductive and Adult Endocrinology, Department of Nuclear Medicine, Biophysics and Nuclear Medicine, INSERM, La Timone University Hospital, Aix‐Marseille University, Marseille, France
Department of Medical Imaging, CNRS, Department of Biophysics and Nuclear Medicine, ICube, Department of Otorhinolaryngology–Head and Neck Surgery, Department of Otorhinolaryngology–Head and Neck Surgery, Program in Reproductive and Adult Endocrinology, Department of Nuclear Medicine, Biophysics and Nuclear Medicine, INSERM, La Timone University Hospital, Aix‐Marseille University, Marseille, France
Department of Medical Imaging, CNRS, Department of Biophysics and Nuclear Medicine, ICube, Department of Otorhinolaryngology–Head and Neck Surgery, Department of Otorhinolaryngology–Head and Neck Surgery, Program in Reproductive and Adult Endocrinology, Department of Nuclear Medicine, Biophysics and Nuclear Medicine, INSERM, La Timone University Hospital, Aix‐Marseille University, Marseille, France
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Department of Medical Imaging, CNRS, Department of Biophysics and Nuclear Medicine, ICube, Department of Otorhinolaryngology–Head and Neck Surgery, Department of Otorhinolaryngology–Head and Neck Surgery, Program in Reproductive and Adult Endocrinology, Department of Nuclear Medicine, Biophysics and Nuclear Medicine, INSERM, La Timone University Hospital, Aix‐Marseille University, Marseille, France
Department of Medical Imaging, CNRS, Department of Biophysics and Nuclear Medicine, ICube, Department of Otorhinolaryngology–Head and Neck Surgery, Department of Otorhinolaryngology–Head and Neck Surgery, Program in Reproductive and Adult Endocrinology, Department of Nuclear Medicine, Biophysics and Nuclear Medicine, INSERM, La Timone University Hospital, Aix‐Marseille University, Marseille, France
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in one of the succinate dehydrogenase (SDH) subunit genes (collectively referred to as SDHx ) ( Baysal et al . 2002 , Neumann et al . 2009 , Piccini et al . 2012 , Martucci & Pacak 2014 ). The SDH complex (also named mitochondrial complex II
Adrian F Daly
Adrian F Daly
Department of Endocrinology Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium
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Albert Beckers
Albert Beckers
Department of Endocrinology Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart‐Tilman, 4000 Liège, Belgium
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) subunit genes, SDHA through SDHD (collectively SDHx ). Mutations of these genes occurring at the germline and somatic levels interfere with mRNA expression and protein function and have profound effects on tumoral biochemical pathways, thereby
Paul Benjamin Loughrey
Paul Benjamin Loughrey
Patrick G Johnston Centre for Cancer Research, Queen’s University, Belfast, UK
Regional Centre for Endocrinology and Diabetes, Royal Victoria Hospital, Belfast Health & Social Care Trust, Belfast, UK
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Regional Centre for Endocrinology and Diabetes, Royal Victoria Hospital, Belfast Health & Social Care Trust, Belfast, UK
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Federico Roncaroli
Federico Roncaroli
Geoffrey Jefferson Brain Research Centre, Division of Neuroscience and Experimental Psychology, School of Medicine, Manchester University, Manchester, UK
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Estelle Healy
Estelle Healy
Department of Cellular Pathology, Royal Victoria Hospital, Belfast Health & Social Care Trust, Belfast, UK
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Philip Weir
Philip Weir
Department of Neurosurgery, Royal Victoria Hospital, Belfast Health & Social Care Trust, Belfast, UK
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Madhu Basetti
Madhu Basetti
Cancer Research UK Cambridge Institute, Li Ka Shing Centre, University of Cambridge, Cambridge, UK
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Ruth T Casey
Ruth T Casey
Department of Endocrinology, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK
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Steven J Hunter
Steven J Hunter
Regional Centre for Endocrinology and Diabetes, Royal Victoria Hospital, Belfast Health & Social Care Trust, Belfast, UK
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Márta Korbonits
Márta Korbonits
Centre for Endocrinology, William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK
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coincidental. Succinate dehydrogenase (SDH) gene variants (collectively known as SDHx ) can associate with PPGL ( Baysal et al. 2000 ). The association of PitNET and PPGL in the setting of SDHx variant was established at the molecular level in 2012
