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1. Full Text Recurrent Mutations of Chromatin-Remodeling Genes and Kinase Receptors in Pheochromocytomas and Paragangliomas
by Toledo, Rodrigo A and Qin, Yuejuan and Cheng, Zi-Ming and Gao, Qing and Iwata, Shintaro and Silva, Gustavo M and Prasad, Manju L and Ocal, I. Tolgay and Rao, Sarika and Aronin, Neil and Barontini, Marta and Bruder, Jan and Reddick, Robert L and Chen, Yidong and Aguiar, Ricardo C. T and Dahia, Patricia L. M
Clinical cancer research, ISSN 1078-0432, 05/2016, Volume 22, Issue 9, pp. 2301 - 2310
Life Sciences & Biomedicine | Oncology | Science & Technology | Histone-Lysine N-Methyltransferase - genetics | Paraganglioma - genetics | Humans | Middle Aged | Carcinoma, Neuroendocrine - genetics | Chromatin Assembly and Disassembly - genetics | Male | Germ-Line Mutation - genetics | Histone Demethylases - genetics | Young Adult | Thyroid Neoplasms - genetics | Exome - genetics | Histone Methyltransferases | Histones - genetics | Adolescent | Adult | Female | Pheochromocytoma - genetics | Aged | Adrenal Gland Neoplasms - genetics | Child | Chromatin - genetics | Giant Cell Tumor of Bone - genetics | c-Mer Tyrosine Kinase - genetics | Index Medicus | genetic | giant cell tumor of the bone | germline | histone demethylases | H3F3A | chromatin | MERTK | kinase | mutations | paragangliomas | mosaic | histone methyltransferases | histone | pheochromocytomas | MET | FGFR1
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2. Full Text Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma
by Ramos-Medina, Rocío and Pica, Giuseppe and Cascón, Alberto and de Cubas, Aguirre A and Taschin, Elisa and Letón, Rocío and Loli, Paola and Honrado, Emiliano and Roncador, Giovanna and Gómez-Morales, Mercedes and Pita, Guillermo and Leandro-García, Luis J and Maliszewska, Agnieszka and Díaz, José A and González-Neira, Anna and Schiavi, Francesca and Bobisse, Sara and Inglada-Pérez, Lucía and Benítez, Javier and Gracia-Aznárez, Francisco J and Rodríguez-Antona, Cristina and Robledo, Mercedes and Landa, Iñigo and Opocher, Giuseppe and Hernández-Lavado, Rafael and Comino-Méndez, Iñaki and Caronia, Daniela and Gómez-Graña, Álvaro and Mannelli, Massimo
Nature genetics, ISSN 1061-4036, 07/2011, Volume 43, Issue 7, pp. 663 - 667
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Adrenals. Adrenal axis. Renin-angiotensin system (diseases) | Non tumoral diseases. Target tissue resistance. Benign neoplasms | Biological and medical sciences | Endocrinopathies | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Follow-Up Studies | Humans | Middle Aged | Child, Preschool | Molecular Sequence Data | Uniparental Disomy | Male | Germ-Line Mutation - genetics | Loss of Heterozygosity | Young Adult | Base Sequence | Polymerase Chain Reaction | Aged, 80 and over | Adult | Female | Child | Amino Acid Sequence | Genetic Predisposition to Disease | Neuroblastoma - genetics | Exons - genetics | Sequence Homology, Amino Acid | Adolescent | Basic Helix-Loop-Helix Leucine Zipper Transcription Factors - genetics | Polymorphism, Single Nucleotide - genetics | Pheochromocytoma - genetics | Aged | Adrenal Gland Neoplasms - genetics | Basic-Leucine Zipper Transcription Factors | Usage | Pheochromocytoma | Gene mutations | Physiological aspects | Genetic aspects | Research | Nucleotide sequencing | Diagnosis | Methods | Risk factors | Proteins | Studies | Biomedical research | Genetic counseling | DNA methylation | Genetics | Genomes | Mutation | Genetic testing | Kinases | Chromosomes | Tumors | Index Medicus
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3. Full Text Genetic and Molecular Aspects of Hypertension
by Padmanabhan, Sandosh and Caulfield, Mark and Dominiczak, Anna F
Circulation research, ISSN 0009-7330, 03/2015, Volume 116, Issue 6, pp. 937 - 959
blood pressure | uromodulin | exome | hypertension | natriuretic peptide, brain | genome-wide association study | Cardiac & Cardiovascular Systems | Peripheral Vascular Disease | Life Sciences & Biomedicine | Hematology | Cardiovascular System & Cardiology | Science & Technology | Kidney Diseases - physiopathology | Paraganglioma - physiopathology | Oligonucleotide Array Sequence Analysis | Sodium, Dietary - adverse effects | Blood Pressure - genetics | Humans | Hypertension - drug therapy | Male | Sympathetic Nervous System - physiopathology | Hypotension - genetics | Kidney Diseases - genetics | Pheochromocytoma - physiopathology | Hypertension, Pregnancy-Induced - genetics | Bartter Syndrome - genetics | Hyperaldosteronism - physiopathology | Glucocorticoids - physiology | Female | Blood Pressure - physiology | Neoplastic Syndromes, Hereditary - genetics | Hypertension - genetics | Mineralocorticoids - physiology | Genetic Predisposition to Disease | Genome-Wide Association Study | Models, Cardiovascular | Paraganglioma - genetics | Hyperaldosteronism - genetics | Hypertension, Pregnancy-Induced - physiopathology | Renin-Angiotensin System - genetics | Renin-Angiotensin System - physiology | Hypertension - physiopathology | Pregnancy | Adrenal Gland Neoplasms - physiopathology | Sodium, Dietary - pharmacokinetics | Neoplastic Syndromes, Hereditary - physiopathology | Pheochromocytoma - genetics | Bartter Syndrome - physiopathology | Polymorphism, Single Nucleotide | Mutation | Adrenal Gland Neoplasms - genetics | Index Medicus
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4. Full Text Genetic Testing in Pheochromocytoma or Functional Paraganglioma
by Laurence Amar and Jérôme Bertherat and Eric Baudin and Christiane Ajzenberg and Brigitte Bressac-de Paillerets and Olivier Chabre and Bernard Chamontin and Brigitte Delemer and Sophie Giraud and Arnaud Murat and Patricia Niccoli-Sire and Stéphane Richard and Vincent Rohmer and Jean-Louis Sadoul and Laurence Strompf and Martin Schlumberger and Xavier Bertagna and Pierre-François Plouin and Xavier Jeunemaitre and Anne-Paule Gimenez-Roqueplo
Journal of clinical oncology, ISSN 0732-183X, 12/2005, Volume 23, Issue 34, pp. 8812 - 8818
Life Sciences & Biomedicine | Oncology | Science & Technology | Adrenals. Adrenal axis. Renin-angiotensin system (diseases) | Biological and medical sciences | Endocrinopathies | Non tumoral diseases. Target tissue resistance. Benign neoplasms | Medical sciences | Tumors | Humans | Middle Aged | Iron-Sulfur Proteins - genetics | Male | Paraganglioma - diagnosis | Germ-Line Mutation - genetics | Genetic Testing - methods | Adrenal Gland Neoplasms - diagnosis | Aged, 80 and over | Adult | Female | Von Hippel-Lindau Tumor Suppressor Protein - genetics | Neurofibromatosis 1 - genetics | France | Child | Protein Subunits - genetics | Genetic Predisposition to Disease - genetics | Membrane Proteins - genetics | Paraganglioma - genetics | Pheochromocytoma - diagnosis | Gene Frequency | Genotype | Neurofibromatosis 1 - diagnosis | Phenotype | Succinate Dehydrogenase - genetics | Algorithms | Adolescent | Pheochromocytoma - genetics | Aged | Adrenal Gland Neoplasms - genetics | Proto-Oncogene Proteins c-ret - genetics | Index Medicus
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5. Full Text Inherited Mutations in Pheochromocytoma and Paraganglioma: Why All Patients Should Be Offered Genetic Testing
by Fishbein, Lauren and Merrill, Shana and Fraker, Douglas L and Cohen, Debbie L and Nathanson, Katherine L
Annals of surgical oncology, ISSN 1068-9265, 5/2013, Volume 20, Issue 5, pp. 1444 - 1450
Oncology | Medicine & Public Health | Surgical Oncology | Surgery | Life Sciences & Biomedicine | Science & Technology | Genetic Testing | Humans | Middle Aged | Male | Young Adult | Paraganglioma, Extra-Adrenal - genetics | Adult | Female | Retrospective Studies | Von Hippel-Lindau Tumor Suppressor Protein - genetics | Child | Pelvic Neoplasms - genetics | Mutation Rate | Succinate Dehydrogenase - genetics | Thoracic Neoplasms - genetics | Abdominal Neoplasms - genetics | Adolescent | Head and Neck Neoplasms - genetics | Pheochromocytoma - genetics | Aged | Referral and Consultation | Adrenal Gland Neoplasms - genetics | Neurofibromin 1 - genetics | Practice Guidelines as Topic | Proto-Oncogene Proteins c-ret - genetics | Hypertension | Medical colleges | Gene mutations | Genes | Mortality | Resveratrol | Medical genetics | Diabetes | Health aspects | Genetic screening | Tumors | Index Medicus
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6. Full Text Genetics of hereditary head and neck paragangliomas
by Boedeker, C.C and Hensen, E.F and Neumann, H.P and Maier, W and Nederveen, F.H. van and Suarez, C and Kunst, H.P.M and Roigo, J.P and Takes, R.P and Pellitteri, P.K and Rinaldo, A and Ferlito, A
Head & neck, ISSN 1043-3074, 2014, Volume 36, Issue 6, pp. 907 - 916
rare diseases | pheochromocytoma | paraganglioma syndrome | hereditary cancer | head and neck paraganglioma | Otorhinolaryngology | Life Sciences & Biomedicine | Surgery | Science & Technology | Diagnosis, Differential | Kidney Neoplasms - genetics | Genetic Testing | Membrane Proteins - genetics | Paraganglioma - genetics | Humans | Carcinoma, Renal Cell - genetics | Mitochondrial Proteins - genetics | von Hippel-Lindau Disease - genetics | Multiple Endocrine Neoplasia Type 1 - genetics | Succinate Dehydrogenase - genetics | Basic Helix-Loop-Helix Leucine Zipper Transcription Factors - genetics | Germ-Line Mutation | Head and Neck Neoplasms - genetics | Heterozygote | Neoplastic Syndromes, Hereditary - genetics | Neurofibromatosis 1 - genetics | Gastrointestinal Stromal Tumors - genetics | Gene mutations | Genetic aspects | Index Medicus
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7. Full Text von Hippel-Lindau disease: A clinical and scientific review
by Maher, Eamonn R and Neumann, Hartmut P.H and Richard, Stéphane
European journal of human genetics : EJHG, ISSN 1018-4813, 06/2011, Volume 19, Issue 6, pp. 617 - 623
renal cysts | phaeochromocytoma | renal carcinoma | VHL | von Hippel-Lindau | haemangioblastoma | Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Adrenals. Adrenal axis. Renin-angiotensin system (diseases) | General aspects. Genetic counseling | Non tumoral diseases. Target tissue resistance. Benign neoplasms | Medical genetics | Biological and medical sciences | Endocrinopathies | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Genetic Predisposition to Disease | Carcinoma, Renal Cell - pathology | Pheochromocytoma - diagnosis | Pheochromocytoma - etiology | Hemangioblastoma - etiology | Humans | Carcinoma, Renal Cell - genetics | Hemangioblastoma - diagnosis | von Hippel-Lindau Disease - complications | von Hippel-Lindau Disease - genetics | von Hippel-Lindau Disease - diagnosis | Magnetic Resonance Imaging | von Hippel-Lindau Disease - pathology | Hemangioblastoma - pathology | Mass Screening | Genes, Dominant | Hemangioblastoma - genetics | Carcinoma, Renal Cell - diagnosis | Germ-Line Mutation | Pheochromocytoma - pathology | Pheochromocytoma - genetics | Von Hippel-Lindau Tumor Suppressor Protein - genetics | Adrenal Gland Neoplasms | Carcinoma, Renal Cell - etiology | Biomedical research | Medical imaging | Central nervous system | Retina | Nervous system | Family medical history | Preventive medicine | Patients | Von Hippel-Lindau disease | Reviews | Cysts | Genetics | VHL protein | Mutation | Neoplasia | Clear cell-type renal cell carcinoma | Cancer | Tumors | Index Medicus | Practical Genetics | von Hippel–Lindau
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