Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 76 Records) |
Query Trace: Paraganglioma and SDHD[original query] |
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Genetics of Apparently Sporadic Pheochromocytoma and Paraganglioma in a Chinese Population. Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 2015 Aug . Lee C H, Cheung C Y Y, Chow W S, Woo Y C, Yeung C Y, Lang B H H, Fong C H Y, Kwok K H M, Chen S P L, Mak C M, Tan K C B, Lam K S |
Germline mutations and genotype-phenotype associations in head and neck paraganglioma patients with negative family history in China. European journal of medical genetics 2015 Sep 58 (9): 433-8. Zhu W D, Wang Z Y, Chai Y C, Wang X W, Chen D Y, Wu |
Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma. European journal of endocrinology / European Federation of Endocrine Societies 2016 Oct 175 (4): 311-23. 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 Nali |
Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients. Hereditary cancer in clinical practice 2016 14 13. Bennedbæk Marc, Rossing Maria, Rasmussen Åse K, Gerdes Anne-Marie, Skytte Anne-Bine, Jensen Uffe B, Nielsen Finn C, Hansen Thomas V |
SDH Subunit Mutation Status in Saliva: Genetic Testing in Patients with Pheochromocytoma. Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 2016 Feb . Osinga T E, Xekouki P, Nambuba J, Faucz F R, de la Luz Sierra M, Links T P, Kema I P, Adams K, Stratakis C A, van der Horst-Schrivers A N A, Pacak |
F-fluorodihydroxyphenylalanine PET/CT in pheochromocytoma and paraganglioma: relation to genotype and amino acid transport system L. European journal of nuclear medicine and molecular imaging 2016 Nov . Feral Chloé C, Tissot Floriane S, Tosello Lionel, Fakhry Nicolas, Sebag Fréderic, Pacak Karel, Taïeb Dav |
[Hereditary pheochromocytoma-associated syndromes. Part 2]. Terapevticheskii arkhiv 2017 6 87 (10): 115-119. Yukina M Yu, Troshina E A, Beltsevich D |
Genotype-phenotype correlation in paediatric pheochromocytoma and paraganglioma: a single centre experience from India. Journal of pediatric endocrinology & metabolism : JPEM 2017 Apr . Khadilkar Kranti, Sarathi Vijaya, Kasaliwal Rajeev, Pandit Reshma, Goroshi Manjunath, Shivane Vyankatesh, Lila Anurag, Bandgar Tushar, Shah Nalini |
Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD. Journal of medical genetics 2018 Jun 55 (6): 384-394. Andrews Katrina A, Ascher David B, Pires Douglas Eduardo Valente, Barnes Daniel R, Vialard Lindsey, Casey Ruth T, Bradshaw Nicola, Adlard Julian, Aylwin Simon, Brennan Paul, Brewer Carole, Cole Trevor, Cook Jackie A, Davidson Rosemarie, Donaldson Alan, Fryer Alan, Greenhalgh Lynn, Hodgson Shirley V, Irving Richard, Lalloo Fiona, McConachie Michelle, McConnell Vivienne P M, Morrison Patrick J, Murday Victoria, Park Soo-Mi, Simpson Helen L, Snape Katie, Stewart Susan, Tomkins Susan E, Wallis Yvonne, Izatt Louise, Goudie David, Lindsay Robert S, Perry Colin G, Woodward Emma R, Antoniou Antonis C, Maher Eamonn |
Tumor multifocality with vagus nerve involvement as a phenotypic marker of SDHD mutation in patients with head and neck paragangliomas: A F-FDOPA PET/CT study. Head & neck 2018 12 41 (6): 1565-1571. Amodru Vincent, Romanet Pauline, Scemama Ugo, Montava Marion, Fakhry Nicolas, Sebag Frédéric, Castinetti Frédéric, Lavieille Jean-Pierre, Loundou Anderson, Varoquaux Arthur, Barlier Anne, Pacak Karel, Taïeb Dav |
The spectrum of SDHD mutations in Russian patients with head and neck paraganglioma. The International journal of neuroscience 2018 Dec 128 (12): 1174-1179. Shulskaya Marina V, Shadrina Maria I, Bakilina Natalia A, Zolotova Svetlana V, Slominsky Petr |
Germline SDHB and SDHD mutations in pheochromocytoma and paraganglioma patients. Endocrine connections 2018 10 7 (12): 1217-1225. Huang Yiqiang, Wang Lin-Ang, Xie Qiubo, Pang Jian, Wang Luofu, Yi Yuting, Zhang Jun, Zhang Yao, Chen Rongrong, Lan Weihua, Zhang Dianzheng, Jiang J |
Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma-paraganglioma. Journal of medical genetics 2019 9 57 (2): 96-103. Bayley Jean Pierre, Bausch Birke, Rijken Johannes Adriaan, van Hulsteijn Leonie Theresia, Jansen Jeroen C, Ascher David, Pires Douglas Eduardo Valente, Hes Frederik J, Hensen Erik F, Corssmit Eleonora P M, Devilee Peter, Neumann Hartmut P |
Loss of BAP1 in Pheochromocytomas and Paragangliomas Seems Unrelated to Genetic Mutations. Endocrine pathology 2019 11 30 (4): 276-284. Maffeis Valeria, Cappellesso Rocco, Nicolè Lorenzo, Guzzardo Vincenza, Menin Chiara, Elefanti Lisa, Schiavi Francesca, Guido Maria, Fassina Ambrog |
Mutational profile and genotype/phenotype correlation of non-familial pheochromocytoma and paraganglioma. Oncotarget 2019 11 10 (57): 5919-5931. Albattal Shatha, Alswailem Meshael, Moria Yosra, Al-Hindi Hindi, Dasouki Majed, Abouelhoda Mohamed, Alkhail Hala Aba, Alsuhaibani Entissar, Alzahrani Ali |
Risk of metastatic pheochromocytoma and paraganglioma in SDHx mutation carriers: a systematic review and updated meta-analysis. Journal of medical genetics 2019 10 57 (4): 217-225. Lee Hansong, Jeong Seongdo, Yu Yeuni, Kang Junho, Sun Hokeun, Rhee Je-Keun, Kim Yun H |
Increased Mortality in SDHB but Not in SDHD Pathogenic Variant Carriers. Cancers 2019 1 11 (1): . Rijken Johannes A, van Hulsteijn Leonie T, Dekkers Olaf M, Niemeijer Nicolasine D, Leemans C René, Eijkelenkamp Karin, van der Horst-Schrivers Anouk N A, Kerstens Michiel N, van Berkel Anouk, Timmers Henri J L M, Kunst Henricus P M, Bisschop Peter H L T, Dreijerink Koen M A, van Dooren Marieke F, Hes Frederik J, Jansen Jeroen C, Corssmit Eleonora P M, Hensen Erik |
Positive Immunostaining for Succinate Dehydrogenase B (SDHB) in Paraganglioma Associated with Germline Mutation of SDHB, L157X and P236S. The Tokai journal of experimental and clinical medicine 2020 9 45 (3): 148-151. Sato Haruhiro, Inomoto Ch |
Pheochromocytoma and Paraganglioma in Children and Adolescents: Experience of the French Society of Pediatric Oncology (SFCE). Journal of the Endocrine Society 2020 5 4 (5): bvaa039. de Tersant Marie, Généré Lucile, Freyçon Claire, Villebasse Sophie, Abbas Rachid, Barlier Anne, Bodet Damien, Corradini Nadège, Defachelles Anne-Sophie, Entz-Werle Natacha, Fouquet Cyrielle, Galmiche Louise, Gandemer Virginie, Lacour Brigitte, Mansuy Ludovic, Orbach Daniel, Pluchart Claire, Réguerre Yves, Rigaud Charlotte, Sarnacki Sabine, Sirvent Nicolas, Stephan Jean-Louis, Thebaud Estelle, Gimenez-Roqueplo Anne-Paule, Brugières Lauren |
Genetic and Clinical Profiles of Pheochromocytoma and Paraganglioma: A Single Center Study. Frontiers in endocrinology 2020 12 11 574662. Ma Xiaosen, Li Ming, Tong Anli, Wang Fen, Cui Yunying, Zhang Xuebin, Zhang Yushi, Chen Shi, Li Yux |
Efficacy of Immunohistochemistry for SDHB in the Screening of Hereditary Pheochromocytoma-Paraganglioma. Biology 2021 8 10 (7): . Choi Hye-Ryeon, Koo Ja-Seung, Lee Cho-Rok, Lee Jan-Dee, Kang Sang-Wook, Jo Young-Seok, Chung Woong-Yo |
Pseudohypoxic pheochromocytomas and paragangliomas dominate in children. Pediatric blood & cancer 2021 3 68 (7): e28981. Redlich Antje, Pamporaki Christina, Lessel Lienhard, Frühwald Michael C, Vorwerk Peter, Kuhlen Michae |
Germline Pathogenic Variants Identified by Targeted Next-Generation Sequencing of Susceptibility Genes in Pheochromocytoma and Paraganglioma. Journal of kidney cancer and VHL 2021 8 (1): 19-24. Yalcintepe Sinem, Gurkan Hakan, Korkmaz Fatma Nur, Demir Selma, Atli Engin, Eker Damla, Guler Hazal Sezginer, Zhuri Drenusha, Atli Emine Ikbal, Salt Semra Ayturk, Sahin Mustafa, Guldiken Sib |
Genetic and clinical aspects of paediatric pheochromocytomas and paragangliomas. Clinical endocrinology 2021 Mar . Petenuci Janaina, Guimaraes Augusto G, Fagundes Gustavo F C, Benedetti Anna Flavia F, Afonso Ana Caroline F, Pereira Maria Adelaide A, Zerbini Maria Claudia N, Siqueira Sheila, Yamauchi Fernando, Soares Silvia C, Srougi Victor, Tanno Fabio Y, Chambo Jose L, Lopes Roberto I, Denes Francisco T, Hoff Ana O, Latronico Ana Claudia, Mendonca Berenice B, Fragoso Maria Candida B V, Almeida Madson |
SDHB variant type impacts phenotype and malignancy in pheochromocytoma-paraganglioma. Journal of medical genetics 2021 11 60 (1): 25-32. Bayley Jean Pierre, Bausch Birke, Jansen Jeroen C, Hensen Erik F, van der Tuin Karin, Corssmit Eleonora Pm, Devilee Peter, Neumann Hartmut |
Novel Germline PHD2 Variant in a Metastatic Pheochromocytoma and Chronic Myeloid Leukemia, but in the Absence of Polycythemia. Medicina (Kaunas, Lithuania) 2022 Aug 58 (8): . Provenzano Aldesia, Chetta Massimiliano, De Filpo Giuseppina, Cantini Giulia, La Barbera Andrea, Nesi Gabriella, Santi Raffaella, Martinelli Serena, Rapizzi Elena, Luconi Michaela, Maggi Mario, Mannelli Massimo, Ercolino Tonino, Canu Letiz |
Somatic Mutation Profiling in Head and Neck Paragangliomas. The Journal of clinical endocrinology and metabolism 2022 4 107 (7): 1833-1842. Savvateeva Maria, Kudryavtseva Anna, Lukyanova Elena, Kobelyatskaya Anastasiya, Pavlov Vladislav, Fedorova Maria, Pudova Elena, Guvatova Zulfiya, Kalinin Dmitry, Golovyuk Alexander, Bulavkina Elizaveta, Katunina Irina, Krasnov George, Snezhkina Anastasi |
Distortion in transmission of pathogenic SDHB- and SDHD-mutated alleles from parent to offspring. Endocrine-related cancer 2023 2 . Davidoff Dahlia F, Lim Eugenie S, Benn Diana E, Subramaniam Yuvanaa, Dorman Eleanor, Burgess John R, Akker Scott A, Clifton-Bligh Roderick |
Algorithm of genetic diagnosis for patients with head and neck paraganglioma-update. Frontiers in neurology 2024 9 15 1437027. Katarzyna Radomska, Zofia Leszczy?ska, Rafal Becht, Monika Zaborek-?yczba, Anna Rzepakowska, Jakub Lubi?ski, Marcin Szyma?s |
Genetic Predisposition to Pheochromocytoma and Paraganglioma: 21 Years' Experience in the Field. Annales d'endocrinologie 2024 5 . Catherine Cardot-Bauters, Marie-Christine Vantyghem, Christine Do Cao, Rachel Desailloud, Michael Joubert, Lucie Coppin, Marie-Francoise Odou, Pascal Pig |
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