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1. Full Text Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non‐syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma
by Jafri, Mariam and Whitworth, James and Rattenberry, Eleanor and Vialard, Lindsey and Kilby, Gail and Kumar, Ajith V and Izatt, Louise and Lalloo, Fiona and Brennan, Paul and Cook, Jackie and Morrison, Patrick J and Canham, Natalie and Armstrong, Ruth and Brewer, Carole and Tomkins, Susan and Donaldson, Alan and Barwell, Julian and Cole, Trevor R and Atkinson, A. Brew and Aylwin, Simon and Ball, Steve G and Srirangalingam, Umasuthan and Chew, Shern L and Evans, Dafydd Gareth R and Hodgson, Shirley V and Irving, Richard and Woodward, Emma and Macdonald, Fiona and Maher, Eamonn R
Clinical Endocrinology, ISSN 0300-0664, 06/2013, Volume 78, Issue 6, pp. 898 - 906
Summary Objectives Research studies have reported that about a third of individuals with phaeochromocytoma/paraganglioma (PPGL) have an inherited... 
PENETRANCE | GERM-LINE MUTATIONS | HEREDITARY | DISEASE | ENDOCRINOLOGY & METABOLISM | CLINICAL PREDICTORS | TUMORS | FAMILIAL PHEOCHROMOCYTOMA | FEATURES | Genetic Predisposition to Disease - genetics | Genetic Testing | Prospective Studies | Paraganglioma - genetics | Humans | Middle Aged | Child, Preschool | Succinate Dehydrogenase - genetics | Adolescent | Adult | Head and Neck Neoplasms - genetics | Pheochromocytoma - genetics | Aged | Von Hippel-Lindau Tumor Suppressor Protein - genetics | Adrenal Gland Neoplasms - genetics | Child | Genetic research | Disease susceptibility | Age
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2. Full Text Pheochromocytoma and Paraganglioma
by Neumann, Hartmut P.H and Young, William F and Eng, Charis
The New England Journal of Medicine, ISSN 0028-4793, 08/2019, Volume 381, Issue 6, pp. 552 - 565
Pheochromocytoma and paraganglioma are related tumors that differ mainly in location; pheochromocytomas are adrenal, and paragangliomas can be anywhere else.... 
MALIGNANT PHEOCHROMOCYTOMAS | MEDICINE, GENERAL & INTERNAL | SUCCINATE-DEHYDROGENASE | ADRENAL-SPARING SURGERY | LAPAROSCOPIC ADRENALECTOMY | GERM-LINE MUTATIONS | HIF2A MUTATIONS | RETROPERITONEAL PARAGANGLIOMAS | ENDOCRINE NEOPLASIA TYPE-2 | RENAL-CELL CARCINOMA | FAMILIAL PHEOCHROMOCYTOMA | Adrenal Gland Neoplasms - surgery | Pheochromocytoma - history | Diagnosis, Differential | History, 21st Century | Pheochromocytoma - diagnosis | History, 20th Century | Humans | Paraganglioma, Extra-Adrenal - surgery | Male | Adrenal Gland Neoplasms - diagnosis | Paraganglioma, Extra-Adrenal - genetics | Female | History, 19th Century | Pheochromocytoma - genetics | Adrenal Gland Neoplasms - history | Paraganglioma, Extra-Adrenal - diagnosis | Pheochromocytoma - surgery | Adrenal Gland Neoplasms - genetics | Hypertension | Nuclear magnetic resonance--NMR | Pheochromocytoma | Paraganglioma | Metastasis | Preventive medicine | Patients | Prevention | Psychotropic drugs | Pregnancy | Genetic counseling | Surveillance | Mutation | Localization | Tumors
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3. Full Text Distinct Clinical Features of Paraganglioma Syndromes Associated With SDHB and SDHD Gene Mutations
by Neumann, Hartmut P. H and Pawlu, Christian and Pęczkowska, Mariola and Bausch, Birke and McWhinney, Sarah R and Muresan, Mihaela and Buchta, Mary and Franke, Gerlind and Klisch, Joachim and Bley, Thorsten A and Hoegerle, Stefan and Boedeker, Carsten C and Opocher, Giuseppe and Schipper, Jörg and Januszewicz, Andrzej and Eng, Charis and for the European-American Paraganglioma Study Group and European-Amer Paraganglioma Study Grp and European-American Paraganglioma Study Group
JAMA, ISSN 0098-7484, 08/2004, Volume 292, Issue 8, pp. 943 - 951
CONTEXT Germline mutations of the genes encoding succinate dehydrogenase subunits B (SDHB) and D (SDHD) predispose to paraganglioma syndromes type 4 (PGL-4)... 
MEDICINE, GENERAL & INTERNAL | ADRENAL-SPARING SURGERY | GERM-LINE MUTATIONS | PHEOCHROMOCYTOMA | LINDAU-DISEASE | SUSCEPTIBILITY | FAMILIAL PARAGANGLIOMA | HEREDITARY PARAGANGLIOMA | ENDOCRINE NEOPLASIA TYPE-2 | COMPLEX-II GENE | MULTIPLE | Membrane Proteins - genetics | Paraganglioma - genetics | Humans | Middle Aged | Male | Iron-Sulfur Proteins | Syndrome | Thyroid Neoplasms - genetics | Succinate Dehydrogenase - genetics | Thoracic Neoplasms - genetics | Abdominal Neoplasms - genetics | Germ-Line Mutation | Poland | Adult | Female | Head and Neck Neoplasms - genetics | Heterozygote | Pheochromocytoma - genetics | Registries | Aged | Adrenal Gland Neoplasms - genetics | Germany | Protein Subunits - genetics | Genetic aspects | Research | Gene mutations | Fluke infections | Clinical trials | Nervous system | Mutation | Tumors
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4. Full Text MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma
by Burnichon, Nelly and Cascoń, Alberto and Schiavi, Francesca and Morales, NicolePaes and Comino-Méndez, Iñaki and Abermil, Nasséra and Inglada-Pérez, Lucía and Cubas, Aguirre and Amar, Laurence and Barontini, Marta and Quiroś, Sana Bernaldo and Bertherat, Jerome and Bignon, Yves-Jean and Blok, Marinus and Bobisse, Sara and Borrego, Salud and Castellano, Maurizio and Chanson, Philippe and Chiara, A and Corssmit, Eleonora and Giacchè, Mara and Krijger, Ronald and Ercolino, Tonino and Girerd, Xavier and Gómez García, Encarna and Gómez-Graña, Álvaro and Guilhem, Isabelle and Hes, Frederik and Honrado, Emiliano and Korpershoek, Esther and Lenders, Jacques and Letón, Rocío and Mensenkamp, Arjen and Merlo, Anna and Mori, Luigi and Murat, Arnaud and Pierre, Peggy and Plouin, Pierre-Franco̧is and Prodanov, Tamara and Quesada-Charneco, Miguel and Qin, Nan and Rapizzi, Elena and Raymond, Eric and Reisch, Nicole and Roncador, Giovanna and Ruiz-Ferrer, Macarena and Schillo, Frank and Stegmann, Sander and Suarez, Carlos and Taschin, Elisa and Timmers, H.J.L.M and Tops, Carli and Urioste, Miguel and Beuschlein, Felix and Pacak, Karel and Mannelli, Massimo and Dahia, Patricia and Opocher, Giuseppe and Eisenhofer, Graeme and Gimenez-Roqueplo, A.P and Robledo, Mercedes
Clinical Cancer Research, ISSN 1078-0432, 05/2012, Volume 18, Issue 10, pp. 2828 - 2837
textabstractPurpose: Pheochromocytomas (PCC) and paragangliomas (PGL) are genetically heterogeneous neural crest-derived neoplasms. Recently we identified... 
GENE-MUTATIONS | SUCCINATE-DEHYDROGENASE | GERM-LINE MUTATIONS | ONCOLOGY | DNA | LINDAU DISEASE | SUSCEPTIBILITY | SDHB | FAMILIAL PHEOCHROMOCYTOMA | Genetic Predisposition to Disease | Paraganglioma - genetics | Humans | Middle Aged | Child, Preschool | Male | Young Adult | Adolescent | Basic Helix-Loop-Helix Leucine Zipper Transcription Factors - genetics | Aged, 80 and over | Germ-Line Mutation | Adult | Female | Pheochromocytoma - genetics | Aged | Adrenal Gland Neoplasms - genetics | Child | Pheochromocytoma | Paraganglioma | Life Sciences | Human health and pathology | Basic Helix-Loop-Helix Leucine Zipper Transcription Factors | Adrenal Gland Neoplasms
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5. Full Text Novel insights into the polycythemia-paraganglioma-somatostatinoma syndrome
by Därr, Roland and Nambuba, Joan and Del Rivero, Jaydira and Janssen, Ingo and Merino, Maria and Todorovic, Milena and Balint, Bela and Jochmanova, Ivana and Prchal, Josef T and Lechan, Ronald M and Tischler, Arthur S and Popovic, Vera and Miljic, Dragana and Adams, Karen T and Prall, F Ryan and Ling, Alexander and Golomb, Meredith R and Ferguson, Michael and Nilubol, Naris and Chen, Clara C and Chew, Emily and Taïeb, David and Stratakis, Constantine A and Fojo, Tito and Yang, Chunzhang and Kebebew, Electron and Zhuang, Zhengping and Pacak, Karel
Endocrine-Related Cancer, ISSN 1351-0088, 12/2016, Volume 23, Issue 12, pp. 899 - 908
Worldwide, the syndromes of paraganglioma (PGL), somatostatinoma (SOM) and early childhood polycythemia are described in only a few patients with somatic... 
Paraganglioma | HIF2A mutation | Pheochromocytoma | Polycythemia | Somatostatinoma | polycythemia | somatostatinoma | HIPPEL-LINDAU-DISEASE | pheochromocytoma | FAMILIAL ERYTHROCYTOSIS | OF-FUNCTION MUTATIONS | HYPOXIA | TUMORS | paraganglioma | SUPERIORITY | GENE | ONCOLOGY | HIF2A MUTATIONS | ENDOCRINOLOGY & METABOLISM | HYPERTENSION | Polycythemia - diagnosis | Pancreatic Neoplasms - diagnosis | Humans | Middle Aged | Somatostatinoma - diagnosis | Male | Paraganglioma - complications | Paraganglioma - diagnosis | Polycythemia - complications | Adrenal Gland Neoplasms - diagnosis | Somatostatinoma - therapy | Young Adult | Neoplasms, Multiple Primary - therapy | Somatostatinoma - pathology | Adult | Female | Polycythemia - pathology | Retrospective Studies | Child | Adrenal Gland Neoplasms - pathology | Neoplasms, Multiple Primary - diagnosis | Paraganglioma - pathology | Paraganglioma - therapy | Pancreatic Neoplasms - pathology | Somatostatinoma - complications | Neoplasms, Multiple Primary - pathology | Disease Progression | Syndrome | Adolescent | Adrenal Gland Neoplasms - complications | Polycythemia - therapy | Neoplasms, Multiple Primary - complications | Pancreatic Neoplasms - complications | Adrenal Gland Neoplasms - therapy | Cohort Studies | Pancreatic Neoplasms - therapy
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6. Full Text Clinical Presentation and Penetrance of Pheochromocytoma/Paraganglioma Syndromes
by Benn, Diana E and Gimenez-Roqueplo, Anne-Paule and Reilly, Jennifer R and Bertherat, Jérôme and Burgess, John and Byth, Karen and Croxson, Michael and Dahia, Patricia L. M and Elston, Marianne and Gimm, Oliver and Henley, David and Herman, Philippe and Murday, Victoria and Niccoli-Sire, Patricia and Pasieka, Janice L and Rohmer, Vincent and Tucker, Kathy and Jeunemaitre, Xavier and Marsh, Deborah J and Plouin, Pierre-François and Robinson, Bruce G and Int SDH Consortium
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 03/2006, Volume 91, Issue 3, pp. 827 - 836
Context: The identification of mutations in genes encoding peptides of succinate dehydrogenase (SDH) in pheochromocytoma/paraganglioma syndromes has... 
GERM-LINE MUTATIONS | SDHD GENE | SUSCEPTIBILITY | ENDOCRINOLOGY & METABOLISM | FAMILIAL PARAGANGLIOMA | HEREDITARY PARAGANGLIOMA | COMPLEX-II GENE | Paraganglioma - genetics | Humans | Middle Aged | Iron-Sulfur Proteins - genetics | Genotype | Phenotype | Succinate Dehydrogenase - genetics | Adolescent | Age of Onset | Adult | Pheochromocytoma - genetics | Mutation | Adrenal Gland Neoplasms - genetics | Child | Amino Acid Substitution | Cohort Studies | Protein Subunits - genetics | Medical and Health Sciences | Medicin och hälsovetenskap
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7. Full Text SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma–paraganglioma syndromes
by Pasini, B and Stratakis, C. A
Journal of Internal Medicine, ISSN 0954-6820, 07/2009, Volume 266, Issue 1, pp. 19 - 42
. A genetic predisposition for paragangliomas and adrenal or extra‐adrenal phaeochromocytomas was recognized years ago. Beside the well‐known syndromes... 
tumour suppressor genes | neuroendocrine tumours | succinate dehydrogenase | Neuroendocrine tumours | Succinate dehydrogenase | Tumour suppressor genes | FAMILIAL NONCHROMAFFIN PARAGANGLIOMAS | CAROTID-BODY PARAGANGLIOMA | MEDULLARY-THYROID CARCINOMA | COMPLEX-II GENE | RENAL-CELL CARCINOMA | DEHYDROGENASE-B GENE | MEDICINE, GENERAL & INTERNAL | MITOCHONDRIAL RESPIRATORY-CHAIN | GERM-LINE MUTATIONS | AUTOSOMAL-DOMINANT PARAGANGLIOMA | COMPARATIVE GENOMIC HYBRIDIZATION | Genetic Predisposition to Disease | Paraganglioma - genetics | Humans | Middle Aged | Child, Preschool | Succinate Dehydrogenase - genetics | Cell Transformation, Neoplastic - genetics | Adolescent | Germ-Line Mutation | Adult | Head and Neck Neoplasms - genetics | Pheochromocytoma - genetics | Aged | Neoplastic Syndromes, Hereditary - genetics | Adrenal Gland Neoplasms - genetics | Child | Enzymes | Genetic aspects | Gene mutations | Tumors
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8. Full Text Hereditary paraganglioma targets diverse paraganglia
by Baysal, B E
Journal of Medical Genetics, ISSN 0022-2593, 09/2002, Volume 39, Issue 9, pp. 617 - 622
Paragangliomas are highly vascularised and often heritable tumours derived from paraganglia, a diffuse neuroendocrine system dispersed from skull base to the... 
VON-HIPPEL-LINDAU | MITOCHONDRIAL RESPIRATORY-CHAIN | SPORADIC PHEOCHROMOCYTOMAS | GENETICS & HEREDITY | MULTIPLE ENDOCRINE NEOPLASIA | TUMOR-SUPPRESSOR GENE | GERMLINE SDHD MUTATION | CAROTID-BODY PARAGANGLIOMA | AUTOSOMAL-DOMINANT PARAGANGLIOMA | COMPLEX-II GENE | RET PROTOONCOGENE | Electron Transport Complex II | Paraganglioma - pathology | Succinate Dehydrogenase - genetics | Oxidoreductases - genetics | Paraganglioma - genetics | Humans | Head and Neck Neoplasms - genetics | Multienzyme Complexes - genetics | Mutation | Adrenal Gland Neoplasms - genetics | Paraganglia, Nonchromaffin - pathology | Adenomatosis, Familial endocrine | Gliomas | Familial diseases | Abnormalities | Neurofibromatosis | Medical genetics | Physiological aspects | Genetic aspects | Research | Carotid body | Tumors | Von Hippel-Lindau disease | Adrenal glands | Genes | Mortality | Morphology | Homeostasis | Hypoxia | Nervous system | Physiology | Review
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9. Full Text SDH-related pheochromocytoma and paraganglioma
by Kantorovich, Vitaly, MD and King, Kathryn S and Pacak, Karel, MD, PhD, DSc
Best Practice & Research: Clinical Endocrinology & Metabolism, ISSN 1521-690X, 2010, Volume 24, Issue 3, pp. 415 - 424
Abstract Pheochromocytoma and paraganglioma are rare tumors of adrenals as well as the sympathetic and parasympathetic paraganglia. Clinical presentation of... 
Endocrinology & Metabolism | Familial pheochromocytoma and paragangioma | Succinate dehydrogenase | Pheochromocytoma | Paraganglioma | Succinate dehydrogenase subunit C | Succinate dehydrogenase subunit D | Paragangia | Succinate dehydrogenase subunit 5 | Malignant pheochromocytoma and paragangioma | Adrenal | Succinate dehydrogenase subunit A | Succinate dehydrogenase subunit B | GENE-MUTATIONS | RESPIRATORY-CHAIN | SUSCEPTIBILITY | PHASE-II | TUMORS | SUCCINATE-DEHYDROGENASE | MALIGNANT PHEOCHROMOCYTOMA | B GENE | ENDOCRINOLOGY & METABOLISM | HEREDITARY PARAGANGLIOMA | COMPLEX II | Paraganglioma - enzymology | Paraganglioma - pathology | Succinate Dehydrogenase - genetics | Adrenal Gland Neoplasms - enzymology | Paraganglioma - genetics | Humans | Pheochromocytoma - enzymology | Pheochromocytoma - pathology | Pheochromocytoma - genetics | Succinate Dehydrogenase - metabolism | Adrenal Gland Neoplasms - genetics | Adrenal Gland Neoplasms - pathology | Physiological aspects | Tumors
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10. Full Text A Comprehensive Next Generation Sequencing–Based Genetic Testing Strategy To Improve Diagnosis of Inherited Pheochromocytoma and Paraganglioma
by Rattenberry, Eleanor and Vialard, Lindsey and Yeung, Anna and Bair, Hayley and McKay, Kirsten and Jafri, Mariam and Canham, Natalie and Cole, Trevor R and Denes, Judit and Hodgson, Shirley V and Irving, Richard and Izatt, Louise and Korbonits, Márta and Kumar, Ajith V and Lalloo, Fiona and Morrison, Patrick J and Woodward, Emma R and Macdonald, Fiona and Wallis, Yvonne and Maher, Eamonn R
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 07/2013, Volume 98, Issue 7, pp. E1248 - E1256
Context: Pheochromocytomas and paragangliomas are notable for a high frequency of inherited cases, many of which present as apparently sporadic tumors.... 
HEAD | NECK PARAGANGLIOMA | SUSCEPTIBILITY | ENDOCRINOLOGY & METABOLISM | GERMLINE MUTATIONS | CLINICAL PREDICTORS | SDHD | FAMILIAL PHEOCHROMOCYTOMA | Head and Neck Neoplasms - economics | DNA Mutational Analysis - economics | Proto-Oncogene Proteins c-ret - metabolism | Prospective Studies | Humans | Pheochromocytoma - economics | Succinate Dehydrogenase - chemistry | Paraganglioma - diagnosis | Genetic Testing - methods | Head and Neck Neoplasms - metabolism | Protein Subunits - metabolism | Cost Savings | Adrenal Gland Neoplasms - diagnosis | Paraganglioma - economics | Sensitivity and Specificity | Germ-Line Mutation | Von Hippel-Lindau Tumor Suppressor Protein - chemistry | Von Hippel-Lindau Tumor Suppressor Protein - genetics | Von Hippel-Lindau Tumor Suppressor Protein - metabolism | Protein Subunits - genetics | Pheochromocytoma - metabolism | Genetic Predisposition to Disease | Costs and Cost Analysis | Paraganglioma - genetics | Pheochromocytoma - diagnosis | United Kingdom | Proto-Oncogene Proteins c-ret - chemistry | Adrenal Gland Neoplasms - economics | Health Care Costs | Succinate Dehydrogenase - genetics | Paraganglioma - metabolism | Adrenal Gland Neoplasms - metabolism | Head and Neck Neoplasms - diagnosis | Head and Neck Neoplasms - genetics | Pheochromocytoma - genetics | Succinate Dehydrogenase - metabolism | Protein Subunits - chemistry | Genetic Testing - economics | Adrenal Gland Neoplasms - genetics | Cohort Studies | Proto-Oncogene Proteins c-ret - genetics
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11. Full Text A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma
by Lorenzo, Felipe R and Lorenzo, Felipe R and Yang, Chunzhang and Yang, Chunzhang and Ng Tang Fui, Mark and Ng Tang Fui, Mark and Vankayalapati, Hariprasad and Vankayalapati, Hariprasad and Zhuang, Zhengping and Zhuang, Zhengping and Huynh, Thanh and Huynh, Thanh and Grossmann, Mathis and Grossmann, Mathis and Pacak, Karel and Pacak, Karel and Prchal, Josef T and Prchal, Josef T
Journal of Molecular Medicine, ISSN 0946-2716, 4/2013, Volume 91, Issue 4, pp. 507 - 512
Congenital polycythemias have diverse etiologies, including mutations in the hypoxia sensing pathway. These include HIF2A at exon 12, VHL gene (Chuvash... 
Human Genetics | Biomedicine | Familial erythrocytosis | Paraganglioma | Internal Medicine | Molecular Medicine | HIF2A | MEDICINE, RESEARCH & EXPERIMENTAL | HYPOXIA-INDUCIBLE FACTOR | FACTOR-I | ERYTHROCYTOSIS