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Germ-line PHD1 and PHD2 mutations detected in patients with pheochromocytoma/paraganglioma-polycythemia

  1. TitleGerm-line PHD1 and PHD2 mutations detected in patients with pheochromocytoma/paraganglioma-polycythemia
    Author Yang C.A.
    Co-authors Zhuang Z.

    Fliedner Stephanie M.J.

    Shankavaram U.

    Sun M.G.

    Bullová Petra SAVVIR - Virologický ústav SAV

    Zhu R.

    Elkahloun Abdel G.

    Kourlas Peter J.

    Merino M.

    Kebebew E.

    Pacak K.

    Source document Journal of Molecular Medicine. Vol. 93, no.1 (2015), p. 93-104
    Languageeng - English
    CountryDE - Germany
    Document kindrozpis článkov z periodík (rbx)
    CitationsCurras-Freixes, M (Curras-Freixes, Maria)[ 1 ] ; Inglada-Perez, L (Inglada-Perez, Lucia)[ 1,2 ] ; Mancikova, V (Mancikova, Veronika)[ 1 ] ; Montero-Conde, C (Montero-Conde, Cristina)[ 1 ] ; Leton, R (Leton, Rocio)[ 1 ] ; Comino-Mendez, I (Comino-Mendez, Inaki)[ 1 ] ; Apellaniz-Ruiz, M (Apellaniz-Ruiz, Maria)[ 1 ] ; Sanchez-Barroso, L (Sanchez-Barroso, Lara)[ 1 ] ; Sanchez-Covisa, MA (Aguirre Sanchez-Covisa, Miguel)[ 3 ] ; Alcazar, V Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients JOURNAL OF MEDICAL GENETICS Volume: 52 Issue: 10 Pages: 647-656, 2015
    Ploumakis, A (Ploumakis, Athanasios)[ 1 ] ; Coleman, ML OH, the Places You'll Go! Hydroxylation, Gene Expression, and Cancer MOLECULAR CELL Volume: 58 Issue: 5 Pages: 729-741, 2015
    Hernandez, KG (Hernandez, Karen Gomez)[ 1 ] ; Ezzat, S (Ezzat, Shereen)[ 1 ] ; Morel, CF (Morel, Chantal F.)[ 1,2 ] ; Swallow, C (Swallow, Carol)[ 3 ] ; Otremba, M (Otremba, Mirek)[ 2 ] ; Dickson, BC (Dickson, Brendan C.)[ 4 ] ; Asa, SL (Asa, Sylvia L.)[ 5 ] ; Mete, O Familial pheochromocytoma and renal cell carcinoma syndrome: TMEM127 as a novel candidate gene for the association VIRCHOWS ARCHIV Volume: 466 Issue: 6 Pages: 727-732, 2015
    von Dobschuetz, E (von Dobschuetz, Ernst)[ 1 ] ; Leijon, H (Leijon, Helena)[ 2,3 ] ; Schalin-Jantti, C (Schalin-Jantti, Camilla)[ 3,4 ] ; Schiavi, F (Schiavi, Francesca)[ 5,6 ] ; Brauckhoff, M (Brauckhoff, Michael)[ 7 ] ; Peczkowska, M (Peczkowska, Mariola)[ 8 ] ; Spiazzi, G (Spiazzi, Giovanna)[ 9,10 ] ; Dematte, S (Dematte, Serena)[ 11 ] ; Cecchini, ME (Cecchini, Maria Enrica)[ 11 ] ; Sartorato, P (Sartorato, Paola)[ 12 ] A registry-based study of thyroid paraganglioma: histological and genetic characteristics ENDOCRINE-RELATED CANCER Volume: 22 Issue: 2 Pages: 191-204, 2015
    ROCHE, Olga - LAURA DEGUIZ, Maria - TIANA, Maria - GALIANA-RIBOTE, Clara - MARTINEZ-ALCAZAR, Daniel - REY-SERRA, Carlos - RANZ-RIBEIRO, Beatriz - CASITAS, Raquel - GALERA, Raul - FERNANDEZ-NAVARRO, Isabel - SANCHEZ-CUELLAR, Silvia - BERNARD, Virginie - ANCOCHEA, Julio - WASSERMAN, Wyeth W. - GARCIA-RIO, Francisco - JIMENEZ, Benilde - DEL PESO, Luis. Identification of non-coding genetic variants in samples from hypoxemic respiratory disease patients that affect the transcriptional response to hypoxia. In NUCLEIC ACIDS RESEARCH. ISSN 0305-1048, NOV 2 2016, vol. 44, no. 19, p. 9315-9330.
    MCMULLIN, Mary Frances. Investigation and Management of Erythrocytosis. In CURRENT HEMATOLOGIC MALIGNANCY REPORTS. ISSN 1558-8211, OCT 2016, vol. 11, no. 5, p. 342-347.
    PANDIT, Reshma - KHADILKAR, Kranti - SARATHI, Vijaya - KASALIWAL, Rajeev - GOROSHI, Manjunath - KHARE, Shruti - NAIR, Sandhya - RAGHAVAN, Vijaya - DALVI, Abhay - HIRA, Priya - FERNANDES, Gwendolyn - SATHE, Pragati - ROJEKAR, Amey - MALHOTRA, Gaurav - BAKSHI, Ganesh - PRAKASH, Gagan - BHANSALI, Anil - WALIA, Rama - KAMALANATHAN, Sadishkumar - SAHOO, Jayaprakash - DESAI, Ankush - BHAGWAT, Nikhil - MAPPA, Prashanth - RAJPUT, Rajesh - CHANDRASHEKHAR, Sudha Rao - SHIVANE, Vyankatesh - MENON, Padma - LILA, Anurag - BANDGAR, Tushar - SHAH, Nalini. Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma. In EUROPEAN JOURNAL OF ENDOCRINOLOGY. ISSN 0804-4643, OCT 2016, vol. 175, no. 4, p. 311-323.
    COMINO-MENDEZ, Inaki - TEJERA, Agueda M. - CURRAS-FREIXES, Maria - REMACHA, Laura - GONZALVO, Pablo - TONDA, Raul - LETON, Rocio - BLASCO, Maria A. - ROBLEDO, Mercedes - CASCON, Alberto. ATRX driver mutation in a composite malignant pheochromocytoma. In CANCER GENETICS. ISSN 2210-7762, JUN 2016, vol. 209, no. 6, p. 272-277.
    CRONA, Joakim - SKOGSEID, Britt. Genetics of neuroendocrine tumors. In EUROPEAN JOURNAL OF ENDOCRINOLOGY. ISSN 0804-4643, JUN 2016, vol. 174, no. 6, p. R275-R290.
    PILLAI, Suja - GOPALAN, Vinod - SMITH, Robert A. - LAM, Alfred K. -Y. Updates on the genetics and the clinical impacts on phaeochromocytoma and paraganglioma in the new era. In CRITICAL REVIEWS IN ONCOLOGY HEMATOLOGY. ISSN 1040-8428, APR 2016, vol. 100, p. 190-208.
    CASTRO-VEGA, L. J. - LEPOUTRE-LUSSEY, C. - GIMENEZ-ROQUEPLO, A-P - FAVIER, J. Rethinking pheochromocytomas and paragangliomas from a genomic perspective. In ONCOGENE. ISSN 0950-9232, MAR 3 2016, vol. 35, no. 9, p. 1080-1089.
    MAXWELL, Patrick H. - ECKARDT, Kai-Uwe. HIF prolyl hydroxylase inhibitors for the treatment of renal anaemia and beyond. In NATURE REVIEWS NEPHROLOGY. ISSN 1759-5061, MAR 2016, vol. 12, no. 3, p. 157-168.
    KORPERSHOEK, Esther - KOFFY, Djamailys - EUSSEN, Bert H. - OUDIJK, Lindsey - PAPATHOMAS, Thomas G. - VAN NEDERVEEN, Francien H. - BELT, Eric J. T. - FRANSSEN, Gaston J. H. - RESTUCCIA, David F. J. - KROL, Niels M. G. - VAN DER LUIJT, Rob B. - FEELDERS, Richard A. - OLDENBURG, Rogier A. - VAN IJCKEN, Wilfred F. J. - DE KLEIN, Annelies - DE HERDER, Wouter W. - DE KRIJGER, Ronald R. - DINJENS, Winand N. M. Complex MAX Rearrangement in a Family With Malignant Pheochromocytoma, Renal Oncocytoma, and Erythrocytosis. In JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. ISSN 0021-972X, FEB 2016, vol. 101, no. 2, p. 453-460.
    PAN, Jie - BISHOP, Tammie - RATCLIFFE, Peter J. - YEGER, Herman - CUTZ, Ernest. Hyperplasia and hypertrophy of pulmonary neuroepithelial bodies, presumed airway hypoxia sensors, in hypoxia-inducible factor prolyl hydroxylase-deficient mice. In HYPOXIA. ISSN 2324-1128, 2016, vol. 4, p. 69-80.
    LALLOO, Fiona. Diagnosis and Management of Hereditary Phaeochromocytoma and Paraganglioma. In RARE HEREDITARY CANCERS: DIAGNOSIS AND MANAGEMENT. ISSN 0080-0015, 2016, vol. 205, p. 105-124.
    WILSON, Rachel - SYED, Nausheen - SHAH, Prabodh. Erythrocytosis due to PHD2 Mutations: A Review of Clinical Presentation, Diagnosis, and Genetics. In CASE REPORTS IN HEMATOLOGY. ISSN 2090-6560, 2016.
    MINNETTI, Marianna - GROSSMAN, Ashley. Somatic and germline mutations in NETs: Implications for their diagnosis and management. In BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM. ISSN 1521-690X, JAN 2016, vol. 30, no. 1, p. 115-127.
    KÜNZEL, Julian - HAINZ, Michael - ROSSMANN, Heidi - MATTHIAS, Christoph. Head and neck paragangliomas. In Head and Neck Cancer: Multimodality Management, Second Edition, 2016-01-01, pp. 693-709.
    REMACHA, L. - COMINO-MENDEZ, I. - RICHTER, S. - CONTRERAS, L. - CURRAS-FREIXES, M. - PITA, G. - LETON, R. - GALARRETA, A. - TORRES-PEREZ, R. - HONRADO, E. - JIMENEZ, S. - MAESTRE, L. - MORAN, S. - ESTELLER, M. - SATRUSTEGUI, J. - EISENHOFER, G. - ROBLEDO, M. - CASCON, A. Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer-Predisposing Mutations in Pheochromocytomas and Paragangliomas. In CLINICAL CANCER RESEARCH. ISSN 1078-0432, OCT 15 2017, vol. 23, no. 20, p. 6315-6324.
    TOLEDO, R.A. New HIF2 alpha inhibitors: potential implications as therapeutics for advanced pheochromocytomas and paragangliomas. In ENDOCRINE-RELATED CANCER. ISSN 1351-0088, SEP 2017, vol. 24, no. 9, p. C9-C19.
    PHAN, N.N. - HUYNH, T.T. - LIN, Y.C. Hyperpolarization-activated cyclic nucleotide-gated gene signatures and poor clinical outcome of cancer patient. In TRANSLATIONAL CANCER RESEARCH. ISSN 2218-676X, AUG 2017, vol. 6, no. 4, p. 698-+.
    BURROWS, N. - MAXWELL, P.H. Hypoxia and B cells. In EXPERIMENTAL CELL RESEARCH. ISSN 0014-4827, JUL 15 2017, vol. 356, no. 2, SI, p. 197-203.
    ANGELOUSI, A. - DIMITRIADIS, G.K. - ZOGRAFOS, G. - NOLTING, S. - KALTSAS, G. - GROSSMAN, A. Molecular targeted therapies in adrenal, pituitary and parathyroid malignancies. In ENDOCRINE-RELATED CANCER. ISSN 1351-0088, JUN 2017, vol. 24, no. 6, p. R239-R259.
    TOLEDO, R.A. Genetics of Pheochromocytomas and Paragangliomas An Overview on the Recently Implicated Genes MERTK, MET, Fibroblast Growth Factor Receptor 1, and H3F3A. In ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA. ISSN 0889-8529, JUN 2017, vol. 46, no. 2, p. 459-+.
    CASEY, R.T. - ASCHER, D.B. - RATTENBERRY, E. - IZATT, L. - ANDREWS, K.A. - SIMPSON, H.L. - CHALLIS, B. - PARK, S.M. - BULUSU, V.R. - LALLOO, F. - PIRES, D.E.V. - WEST, H. - CLARK, G.R. - SMITH, P.S. - WHITWORTH, J. - PAPATHOMAS, T.G. - TANIERE, P. - SAVISAAR, R. - HURST, L.D. - WOODWARD, E.R. - MAHER, E.R. SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity. In MOLECULAR GENETICS & GENOMIC MEDICINE. ISSN 2324-9269, MAY 2017, vol. 5, no. 3, p. 237-250.
    ZHIKRIVETSKAYA, S.O. - SNEZHKINA, A.V. - ZARETSKY, A.R. - ALEKSEEV, B.Y. - POKROVSKY, A.V. - GOLOVYUK, A.L. - MELNIKOVA, N.V. - STEPANOV, O.A. - KALININ, D.V. - MOSKALEV, A.A. - KRASNOV, G.S. - DMITRIEV, A.A. - KUDRYAVTSEVA, A.V. Molecular markers of paragangliomas/pheochromocytomas. In ONCOTARGET. ISSN 1949-2553, APR 11 2017, vol. 8, no. 15, p. 25756-25782.
    TOLEDO, R.A. - BURNICHON, N. - CASCON, A. - BENN, D.E. - BAYLEY, J.P. - WELANDER, J. - TOPS, C.M. - FIRTH, H. - DWIGHT, T. - ERCOLINO, T. - MANNELLI, M. - OPOCHER, G. - CLIFTON-BLIGH, R. - GIMM, O. - MAHER, E.R. - ROBLEDO, M. - GIMENEZ-ROQUEPLO, A.P. - DAHIA, P.L.M. Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas. In NATURE REVIEWS ENDOCRINOLOGY. ISSN 1759-5029, APR 2017, vol. 13, no. 4, p. 233-247.
    LIU, Q.L. - WANG, Y. - TONG, D.L. - LIU, G.L. - YUAN, W.Q. - ZHANG, J. - YE, J. - ZHANG, Y. - YUAN, G. - FENG, Q.X. - ZHANG, D.Z. - JIANG, J. A Somatic HIF2 alpha Mutation-Induced Multiple and Recurrent Pheochromocytoma/Paraganglioma with Polycythemia: Clinical Study with Literature Review. In ENDOCRINE PATHOLOGY. ISSN 1046-3976, MAR 2017, vol. 28, no. 1, p. 75-82.
    VOROKHOBINA, N. V. - SHUSTOV, S. B. - BALANDINA, K. A. - GALAKHOVA, R. K. Genetic aspects of primary hyperaldosteronism and pheochromocytoma. In Arterial Hypertension (Russian Federation). ISSN 1607419X, 2017-01-01, 23, 3, pp. 178-185.
    KORPERSHOEK, Esther - VAN NEDERVEEN, Francien H. - KOMMINOTH, Paul - DE KRIJGER, Ronald R. - KORPERSHOEK, Esther - VAN NEDERVEEN, Francien H. - KOMMINOTH, Paul - DE KRIJGER, Ronald R. - KORPERSHOEK, Esther - VAN NEDERVEEN, Francien H. - KOMMINOTH, Paul. Familial endocrine tumours: pheochromocytomas and extra-adrenal paragangliomas – an update. In Diagnostic Histopathology. ISSN 17562317, 2017-08-01, 23, 8, pp. 335-345.
    KENNEL, Kilian B. - BURMEISTER, Julius - SCHNEIDER, Martin - TAYLOR, Cormac T. The PHD1 oxygen sensor in health and disease. In JOURNAL OF PHYSIOLOGY-LONDON. ISSN 0022-3751, 2018, vol. 596, no. 17, pp. 3899-3913.
    NEUMANN, Hartmut P. - YOUNG, William F. - KRAUSS, Tobias - BAYLEY, Jean-Pierre - SCHIAVI, Francesca - OPOCHER, Giuseppe - BOEDEKER, Carsten C. - TIROSH, Amit - CASTINETTI, Frederic - RUF, Juri - BELTSEVICH, Dmitry - WALZ, Martin - GROEBEN, Harald-Thomas - VON DOBSCHUETZ, Ernst - GIMM, Oliver - WOHLLK, Nelson - PFEIFER, Marija - LOURENCO, Delmar M. - PECZKOWSKA, Mariola - PATOCS, Attila - NGEOW, Joanne - MAKAY, Ozer - SHAH, Nalini S. - TISCHLER, Arthur - LEIJON, Helena - PENNELLI, Gianmaria - VILLAR GOMEZ DE LAS HERAS, Karina - LINKS, Thera P. - BAUSCH, Birke - ENG, Charis. 65 YEARS OF THE DOUBLE HELIX Genetics informs precision practice in the diagnosis and management of pheochromocytoma. In ENDOCRINE-RELATED CANCER. ISSN 1351-0088, 2018, vol. 25, no. 8, pp. T201-T219.
    OLIVEIRA, Jennifer L. - COON, Lea M. - FREDERICK, Lori A. - HEIN, Molly - SWANSON, Kenneth C. - SAVEDRA, Michelle E. - PORTER, Tavanna R. - PATNAIK, Mrinal M. - TEFFERI, Ayalew - PARDANANI, Animesh - GREBE, Stefan K. - VISWANATHA, David S. - HOYER, James D. Genotype-phenotype correlation of hereditary erythrocytosis mutations, a single center experience. In AMERICAN JOURNAL OF HEMATOLOGY. ISSN 0361-8609, 2018, vol. 93, no. 8, pp. 1029-1041.
    TEVOSIAN, Sergei G. - GHAYEE, Hans K. Pheochromocytoma/Paraganglioma: A Poster Child for Cancer Metabolism. In JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. ISSN 0021-972X, 2018, vol. 103, no. 5, pp. 1779-1789.
    MERCADO-ASIS, Leilani B. - WOLF, Katherine I. - JOCHMANOVA, Ivana - TAIEB, David. PHEOCHROMOCYTOMA: A GENETIC AND DIAGNOSTIC UPDATE. In ENDOCRINE PRACTICE. ISSN 1530-891X, 2018, vol. 24, no. 1, pp. 78-90.
    EVENEPOEL, Lucie - VAN NEDERVEEN, Francien H. - OUDIJK, Lindsey - PAPATHOMAS, Thomas G. - RESTUCCIA, David F. - BELT, Eric J. T. - DE HERDER, Wouter W. - FEELDERS, Richard A. - FRANSSEN, Gaston J. H. - HAMOIR, Marc - MAITER, Dominique - GHAYEE, Hans K. - SHAY, Jerry W. - PERREN, Aurel - TIMMERS, Henri J. L. M. - VAN EEDEN, Susanne - VROONEN, Laurent - AYDIN, Selda - ROBLEDO, Mercedes - VIKKULA, Miikka - DE KRIJGER, Ronald R. - DINJENS, Winand N. M. - PERSU, Alexandre - KORPERSHOEK, Esther. Expression of Contactin 4 Is Associated With Malignant Behavior in Pheochromocytomas and Paragangliomas. In JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. ISSN 0021-972X, 2018, vol. 103, no. 1, pp. 46-55.
    GILL, Anthony J. Succinate dehydrogenase (SDH)-deficient neoplasia. In HISTOPATHOLOGY. ISSN 0309-0167, 2018, vol. 72, no. 1, pp. 106-116.
    KHATAMI, Fatemeh - MOHAMMADAMOLI, Mahsa - TAVANGAR, Seyed Mohammad. Genetic and epigenetic differences of benign and malignant pheochromocytomas and paragangliomas (PPGLs). In Endocrine Regulations. ISSN 12100668, 2018-01-01, 52, 1, pp. 41-54.
    AGARWAL, Swashti - JINDAL, Ishita - BALAZS, Andrea - PAUL, David. Catecholamine-Secreting Tumors in Pediatric Patients With Cyanotic Congenital Heart Disease. In JOURNAL OF THE ENDOCRINE SOCIETY, 2019, vol. 3, no. 11, pp. 2135-2150.
    SNEZHKINA, A. V. - LUKYANOVA, E. N. - FEDOROVA, M. S. - KALININ, D. V. - MELNIKOVA, N. V. - STEPANOV, O. A. - KISELEVA, M. V. - KAPRIN, A. D. - PUDOVA, E. A. - KUDRYAVTSEVA, A. V. Novel Genes Associated with the Development of Carotid Paragangliomas. In MOLECULAR BIOLOGY. ISSN 0026-8933, 2019, vol. 53, no. 4, pp. 547-559.
    LIU, Yalin - LIU, Longfei - ZHU, Feizhou. Therapies targeting the signal pathways of pheochromocytoma and paraganglioma. In ONCOTARGETS AND THERAPY. ISSN 1178-6930, 2019, vol. 12, no., pp. 7227-7241.
    BERENDS, Annika M. A. - EISENHOFER, Graeme - FISHBEIN, Lauren - VAN DER HORST-SCHRIVERS, Anouk N. A. - KEMA, Ido P. - LINKS, Thera P. - LENDERS, Jacques W. M. - KERSTENS, Michiel N. Intricacies of the Molecular Machinery of Catecholamine Biosynthesis and Secretion by Chromaffin Cells of the Normal Adrenal Medulla and in Pheochromocytoma and Paraganglioma. In CANCERS, 2019, vol. 11, no. 8, pp.
    NEUMANN, Hartmut P. H. - YOUNG, William F. - ENG, Charis. Pheochromocytoma and Paraganglioma. In NEW ENGLAND JOURNAL OF MEDICINE. ISSN 0028-4793, 2019, vol. 381, no. 6, pp. 552-565.
    KOOPMAN, Karen - GAAL, Jose - DE KRIJGER, Ronald R. Pheochromocytomas and Paragangliomas: New Developments with Regard to Classification, Genetics, and Cell of Origin. In CANCERS, 2019, vol. 11, no. 8, pp.
    OUDIJK, Lindsey - GAAL, Jose - KOOPMAN, Karen - DE KRIJGER, Ronald R. An Update on the Histology of Pheochromocytomas: How Does it Relate to Genetics? In HORMONE AND METABOLIC RESEARCH. ISSN 0018-5043, 2019, vol. 51, no. 7, pp. 403-413.
    SMESTAD, John A. - MAHER, L. James. Master regulator analysis of paragangliomas carrying SDHx, VHL, or MAML3 genetic alterations. In BMC CANCER. ISSN 1471-2407, 2019, vol. 19, no., pp.
    ULLRICH, Martin - RICHTER, Susan - SEIFERT, Verena - HAUSER, Sandra - CALSINA, Bruna - MARTINEZ-MONTES, Angel M. - TER LAAK, Marjolein - ZIEGLER, Christian G. - TIMMERS, Henri - EISENHOFER, Graeme - ROBLEDO, Mercedes - PIETZSCH, Jens. Targeting Cyclooxygenase-2 in Pheochromocytoma and Paraganglioma: Focus on Genetic Background. In CANCERS. ISSN 2072-6694, 2019, vol. 11, no. 6, pp.
    OLIVEIRA, Jennifer L. Algorithmic evaluation of hereditary erythrocytosis: Pathways and caveats. In INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY. ISSN 1751-5521, 2019, vol. 41, no., pp. 89-94.
    MUTH, A. - CRONA, J. - GIMM, O. - ELMGREN, A. - FILIPSSON, K. - ASKMALM, M. Stenmark - SANDSTEDT, J. - TENGVAR, M. - THAM, E. Genetic testing and surveillance guidelines in hereditary pheochromocytoma and paraganglioma. In JOURNAL OF INTERNAL MEDICINE. ISSN 0954-6820, 2019, vol. 285, no. 2, pp. 187-204.
    ECKARDT, L. - PRANGE-BARCZYNSKA, M. - HODSON, E.J. - FIELDING, J.W. - CHENG, X.T. - LIMA, J.D.C.C. - KURLEKAR, S. - DOUGLAS, G. - RATCLIFFE, P.J. - BISHOP, T. Developmental role of PHD2 in the pathogenesis of pseudohypoxic pheochromocytoma. In ENDOCRINE-RELATED CANCER. ISSN 1351-0088, DEC 1 2021, vol. 28, no. 12, p. 757-772.
    GAO, Y.J. - LING, C. - MA, X.S. - WANG, H.P. - CUI, Y.Y. - NIE, M. - TONG, A.L. Recurrent Germline Mutations of CHEK2 as a New Susceptibility Gene in Patients with Pheochromocytomas and Paragangliomas. In INTERNATIONAL JOURNAL OF ENDOCRINOLOGY. ISSN 1687-8337, SEP 30 2021, vol. 2021.
    MCMULLIN, M.F. Genetic Background of Congenital Erythrocytosis. In GENES. AUG 2021, vol. 12, no. 8.
    TSOLI, M. - DASKALAKIS, K. - KASSI, E. - KALTSAS, G. - TSOLAKIS, A.V. A Critical Appraisal of Contemporary and Novel Biomarkers in Pheochromocytomas and Adrenocortical Tumors. In BIOLOGY-BASEL. JUL 2021, vol. 10, no. 7.
    GARCIA-CARBONERO, R. - TERESA, F.M. - MERCADER-CIDONCHA, E. - MITJAVILA-CASANOVAS, M. - ROBLEDO, M. - TENA, I. - ALVAREZ-ESCOLA, C. - ARISTEGUI, M. - BELLA-CUETO, M.R. - FERRER-ALBIACH, C. - HANZU, F.A. Multidisciplinary practice guidelines for the diagnosis, genetic counseling and treatment of pheochromocytomas and paragangliomas. In CLINICAL & TRANSLATIONAL ONCOLOGY. ISSN 1699-048X, OCT 2021, vol. 23, no. 10, p. 1995-2019.
    MALLIK, N. - DAS, R. - MALHOTRA, P. - SHARMA, P. Congenital erythrocytosis. In EUROPEAN JOURNAL OF HAEMATOLOGY. ISSN 0902-4441, JUL 2021, vol. 107, no. 1, p. 29-37.
    JUHLIN, C.C. Challenges in Paragangliomas and Pheochromocytomas: from Histology to Molecular Immunohistochemistry. In ENDOCRINE PATHOLOGY. ISSN 1046-3976, JUN 2021, vol. 32, no. 2, p. 228-244.
    FROST, J. - FROST, M. - BATIE, M. - JIANG, H. - ROCHA, S. Roles of HIF and 2-Oxoglutarate-Dependent Dioxygenases in Controlling Gene Expression in Hypoxia. In CANCERS. JAN 2021, vol. 13, no. 2.
    GRIGORYAN, S. - NHAN, W. - ZHANG, L. - URBAN, C. - ZHAO, L.L. - TURCU, A.F. Rates of Pheochromocytoma/Paraganglioma Screening in At-Risk Populations. In JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. ISSN 0021-972X, MAY 17 2023, vol. 108, no. 6, p. E343-E349. Dostupné na: https://doi.org/10.1210/clinem/dgac701.
    OHH, M. - TABER, C.C. - FERENS, F.G. - TARADE, D. Hypoxia-inducible factor underlies von Hippel-Lindau disease stigmata. In ELIFE. ISSN 2050-084X, AUG 30 2022, vol. 11. Dostupné na: https://doi.org/10.7554/eLife.80774.
    PROVENZANO, A. - CHETTA, M. - DE FILPO, G. - CANTINI, G. - LA BARBERA, A. - NESI, G. - SANTI, R. - MARTINELLI, S. - RAPIZZI, E. - LUCONI, M. - MAGGI, M. - MANNELLI, M. - ERCOLINO, T. - CANU, L. Novel Germline iPHD2/i Variant in a Metastatic Pheochromocytoma and Chronic Myeloid Leukemia, but in the Absence of Polycythemia. In MEDICINA-LITHUANIA. ISSN 1010-660X, AUG 2022, vol. 58, no. 8. Dostupné na: https://doi.org/10.3390/medicina58081113.
    SEMENZA, G.L. Breakthrough science: hypoxia-inducible factors, oxygen sensing, and disorders of hematopoiesis. In BLOOD. ISSN 0006-4971, APR 21 2022, vol. 139, no. 16, p. 2441-2449. Dostupné na: https://doi.org/10.1182/blood.2021011043.
    HORTON, C. - LADUCA, H. - DECKMAN, A. - DURDA, K. - JACKSON, M. - RICHARDSON, M.E. - TIAN, Y. - YUSSUF, A. - JASPERSON, K. - ELSE, T. Universal Germline Panel Testing for Individuals With Pheochromocytoma and Paraganglioma Produces High Diagnostic Yield. In JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. ISSN 0021-972X, APR 19 2022, vol. 107, no. 5, p. E1917-E1923. Dostupné na: https://doi.org/10.1210/clinem/dgac014.
    SUTEAU, V. - MUNIER, M. - BEN BOUBAKER, R. - WERY, M. - HENRION, D. - RODIEN, P. - BRIET, C. Identification of Dysregulated Expression of G Protein Coupled Receptors in Endocrine Tumors by Bioinformatics Analysis: Potential Drug Targets?. In CELLS. FEB 2022, vol. 11, no. 4. Dostupné na: https://doi.org/10.3390/cells11040703.
    GARDIE, B. - MAAZIZ, N. - GIRODON, F. Clinical and molecular diagnosis of hereditary and idiopathic erythrocytosis. In HEMATOLOGIE. ISSN 1264-7527, JAN-FEB 2022, vol. 28, no. 1, p. 75-92. Dostupné na: https://doi.org/10.1684/hma.2022.1715.
    TABEBI, M. - LYSIAK, M. - DUTTA, R.K. - LOMAZZI, S. - TURKINA, M.V. - BRUNAUD, L. - GIMM, O. - SOEDERKVIST, P. Genetic Alterations in Mitochondrial DNA Are Complementary to Nuclear DNA Mutations in Pheochromocytomas. In CANCERS. JAN 2022, vol. 14, no. 2. Dostupné na: https://doi.org/10.3390/cancers14020269.
    CategoryADCA - Scientific papers in foreign journals registered in Current Contents Connect with IF (impacted)
    Category of document (from 2022)V3 - Vedecký výstup publikačnej činnosti z časopisu
    Type of documentčlánok
    Year2015
    Registered inWOS
    Registered inSCOPUS
    Registered inCCC
    DOI 10.1007/s00109-014-1205-7
    article

    article

    rokCCIFIF Q (best)JCR Av Jour IF PercSJRSJR Q (best)CiteScore
    A
    rok vydaniarok metrikyIFIF Q (best)SJRSJR Q (best)
    201520145.107Q12.520Q1
Number of the records: 1  

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