HuGE Literature Finder
Records 1-30
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A Single Center Retrospective Review of Patients from Central Italy Tested for Melanoma Predisposition Genes.
International journal of molecular sciences 2020 Dec 21 (24): . De Simone Paola, Bottillo Irene, Valiante Michele, Iorio Alessandra, De Bernardo Carmelilia, Majore Silvia, D'Angelantonio Daniela, Valentini Tiziana, Sperduti Isabella, Piemonte Paolo, Eibenschutz Laura, Ferrari Angela, Carbone Anna, Buccini Pierluigi, Paiardini Alessandro, Silipo Vitaliano, Frascione Pasquale, Grammatico Pao |
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The prevalence and characterisation of TRAF3 and POT1 mutations in canine B-cell lymphoma.
Veterinary journal (London, England : 1997) 2020 Dec 266 105575. Smith P A D, Waugh E M, Crichton C, Jarrett R F, Morris J |
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Predictive significance of selected gene mutations in relapsed and refractory chronic lymphocytic leukemia patients treated with ibrutinib.
European journal of haematology 2020 Nov . Machnicki Marcin M, Górniak Patryk, Pepek Monika, Szymczyk Agnieszka, Iskierka-Jazdzewska Elzbieta, Steckiewicz Pawel, Bluszcz Aleksandra, Rydzanicz Malgorzata, Hus Marek, Ploski Rafal, Makuch-Lasica Hanna, Nowak Grazyna, Juszczynski Przemyslaw, Jamroziak Krzysztof, Stoklosa Tomasz, Pula Barto |
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Chronic lymphocytic leukemia patients with IGH translocations are characterized by a distinct genetic landscape with prognostic implications.
International journal of cancer 2020 Jul . Pérez-Carretero Claudia, Hernández-Sánchez María, González Teresa, Quijada-Álamo Miguel, Martín-Izquierdo Marta, Hernández-Sánchez Jesús-María, Vidal María-Jesús, García de Coca Alfonso, Aguilar Carlos, Vargas-Pabón Manuel, Alonso Sara, Sierra Magdalena, Rubio-Martínez Araceli, Dávila Julio, Díaz-Valdés José R, Queizán José-Antonio, Hernández-Rivas José-Ángel, Benito Rocío, Rodríguez-Vicente Ana E, Hernández-Rivas Jesús-Mar |
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Candidate genes for hereditary colorectal cancer: mutational screening and systematic review.
Human mutation 2020 May . Belhadj Sami, Terradas Mariona, Munoz-Torres Pau M, Aiza Gemma, Navarro Matilde, Capellá Gabriel, Valle Lau |
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Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in Patients With Osteosarcoma.
JAMA oncology 2020 Mar . Mirabello Lisa, Zhu Bin, Koster Roelof, Karlins Eric, Dean Michael, Yeager Meredith, Gianferante Matthew, Spector Logan G, Morton Lindsay M, Karyadi Danielle, Robison Leslie L, Armstrong Gregory T, Bhatia Smita, Song Lei, Pankratz Nathan, Pinheiro Maisa, Gastier-Foster Julie M, Gorlick Richard, de Toledo Silvia Regina Caminada, Petrilli Antonio S, Patino-Garcia Ana, Lecanda Fernando, Gutierrez-Jimeno Miriam, Serra Massimo, Hattinger Claudia, Picci Piero, Scotlandi Katia, Flanagan Adrienne M, Tirabosco Roberto, Amary Maria Fernanda, Kurucu Nilgün, Ilhan Inci Ergurhan, Ballinger Mandy L, Thomas David M, Barkauskas Donald A, Mejia-Baltodano Gerardo, Valverde Patricia, Hicks Belynda D, Zhu Bin, Wang Mingyi, Hutchinson Amy A, Tucker Margaret, Sampson Joshua, Landi Maria T, Freedman Neal D, Gapstur Susan, Carter Brian, Hoover Robert N, Chanock Stephen J, Savage Sharon |
Genome-Wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length.
American journal of human genetics 2020 Feb . Li Chen, Stoma Svetlana, Lotta Luca A, Warner Sophie, Albrecht Eva, Allione Alessandra, Arp Pascal P, Broer Linda, Buxton Jessica L, Da Silva Couto Alves Alexessander, Deelen Joris, Fedko Iryna O, Gordon Scott D, Jiang Tao, Karlsson Robert, Kerrison Nicola, Loe Taylor K, Mangino Massimo, Milaneschi Yuri, Miraglio Benjamin, Pervjakova Natalia, Russo Alessia, Surakka Ida, van der Spek Ashley, Verhoeven Josine E, Amin Najaf, Beekman Marian, Blakemore Alexandra I, Canzian Federico, Hamby Stephen E, Hottenga Jouke-Jan, Jones Peter D, Jousilahti Pekka, Mägi Reedik, Medland Sarah E, Montgomery Grant W, Nyholt Dale R, Perola Markus, Pietiläinen Kirsi H, Salomaa Veikko, Sillanpää Elina, Suchiman H Eka, van Heemst Diana, Willemsen Gonneke, Agudo Antonio, Boeing Heiner, Boomsma Dorret I, Chirlaque Maria-Dolores, Fagherazzi Guy, Ferrari Pietro, Franks Paul, Gieger Christian, Eriksson Johan Gunnar, Gunter Marc, Hägg Sara, Hovatta Iiris, Imaz Liher, Kaprio Jaakko, Kaaks Rudolf, Key Timothy, Krogh Vittorio, Martin Nicholas G, Melander Olle, Metspalu Andres, Moreno Concha, Onland-Moret N Charlotte, Nilsson Peter, Ong Ken K, Overvad Kim, Palli Domenico, Panico Salvatore, Pedersen Nancy L, Penninx Brenda W J H, Quirós J Ramón, Jarvelin Marjo Riitta, Rodríguez-Barranco Miguel, Scott Robert A, Severi Gianluca, Slagboom P Eline, Spector Tim D, Tjonneland Anne, Trichopoulou Antonia, Tumino Rosario, Uitterlinden André G, van der Schouw Yvonne T, van Duijn Cornelia M, Weiderpass Elisabete, Denchi Eros Lazzerini, Matullo Giuseppe, Butterworth Adam S, Danesh John, Samani Nilesh J, Wareham Nicholas J, Nelson Christopher P, Langenberg Claudia, Codd Very |
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Prognostic and predictive role of gene mutations in chronic lymphocytic leukemia: results from the pivotal phase III study COMPLEMENT1.
Haematologica 2020 Jan . Tausch Eugen, Beck Philipp, Schlenk Richard F, Jebaraj Billy J, Dolnik Anna, Yosifov Deyan Y, Hillmen Peter, Offner Fritz, Janssens Ann, Babu K Govind, Grosicki Sebastian, Mayer Jiri, Panagiotidis Panagiotis, McKeown Astrid, Gupta Ira V, Skorupa Alexandra, Pallaud Celine, Bullinger Lars, Mertens Daniel, Döhner Hartmut, Stilgenbauer Steph |
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Prognostic and predictive role of gene mutations in chronic lymphocytic leukemia: results from the pivotal phase III study COMPLEMENT1.
Haematologica 2020 Jan 105 (10): 2440-2447. Eugen Tausch , Philipp Beck , Richard F Schlenk , Billy J Jebaraj , Anna Dolnik , Deyan Y Yosifov , Peter Hillmen , Fritz Offner , Ann Janssens , K Govind Babu , Sebastian Grosicki , Jiri Mayer , Panagiotis Panagiotidis , Astrid McKeown , Ira V Gupta , Alexandra Skorupa , Celine Pallaud , Lars Bullinger , Daniel Mertens , Hartmut Döhner , Stephan Stilgenbaue |
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Genetic variation in POT1 and risk of thyroid subsequent malignant neoplasm: A report from the Childhood Cancer Survivor Study.
PloS one 2020 15 (2): e0228887. Richard Melissa A, Lupo Philip J, Morton Lindsay M, Yasui Yutaka A, Sapkota Yadav A, Arnold Michael A, Aubert Geraldine, Neglia Joseph P, Turcotte Lucie M, Leisenring Wendy M, Sampson Joshua N, Chanock Stephen J, Hudson Melissa M, Armstrong Gregory T, Robison Leslie L, Bhatia Smita, Gramatges Maria Moni |
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Targeted germline sequencing of patients with three or more primary melanomas reveals high rate of pathogenic variants.
Melanoma research 2019 Sep . Li Christopher, Liu Tong, Tavtigian Sean V, Boucher Kenneth, Kohlmann Wendy, Cannon-Albright Lisa, Grossman Dougl |
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POT1 germline mutations but not TERT promoter mutations are implicated in melanoma susceptibility in a large cohort of Spanish melanoma families.
The British journal of dermatology 2019 Jul 181 (1): 105-113. Potrony M, Puig-Butille J A, Ribera-Sola M, Iyer V, Robles-Espinoza C D, Aguilera P, Carrera C, Malvehy J, Badenas C, Landi M T, Adams D J, Puig |
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POT1 pathogenic variants: not all telomere pathway genes are equal in risk of hereditary cutaneous melanoma.
The British journal of dermatology 2019 Jul 181 (1): 14-15. Toland A |
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Association of genetic polymorphisms of telomere binding proteins with cholinesterase activity in omethoate-exposed workers.
Ecotoxicology and environmental safety 2018 Jun 161 563-568. Ding Mingcui, Yang Yongli, Duan Xiaoran, Wang Sihua, Feng Xiaolei, Wang Tuanwei, Wang Pengpeng, Liu Suxiang, Li Lei, Liu Junling, Tang Lixia, Niu Xinhua, Zhang Yuhong, Li Guoyu, Yao Wu, Cui Liuxin, Wang W |
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Genomic characterization of chronic lymphocytic leukemia (CLL) in radiation-exposed Chornobyl cleanup workers.
Environmental health : a global access science source 2018 May 17 (1): 43. Ojha Juhi, Dyagil Iryna, Finch Stuart C, Reiss Robert F, de Smith Adam J, Gonseth Semira, Zhou Mi, Hansen Helen M, Sherborne Amy L, Nakamura Jean, Bracci Paige M, Gudzenko Nataliya, Hatch Maureen, Babkina Nataliya, Little Mark P, Chumak Vadim V, Walsh Kyle M, Bazyka Dimitry, Wiemels Joseph L, Zablotska Lydia |
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Germ line mutations in shelterin complex genes are associated with familial chronic lymphocytic leukemia.
Blood 2016 Nov 128 (19): 2319-2326. Speedy Helen E, Kinnersley Ben, Chubb Daniel, Broderick Peter, Law Philip J, Litchfield Kevin, Jayne Sandrine, Dyer Martin J S, Dearden Claire, Follows George A, Catovsky Daniel, Houlston Richard |
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CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma.
Cancer letters 2016 May . Betti M, Aspesi A, Biasi A, Casalone E, Ferrante D, Ogliara P, Gironi L C, Giorgione R, Farinelli P, Grosso F, Libener R, Rosato S, Turchetti D, Maffè A, Casadio C, Ascoli V, Dianzani C, Colombo E, Piccolini E, Pavesi M, Miccoli S, Mirabelli D, Bracco C, Righi L, Boldorini R, Papotti M, Matullo G, Magnani C, Pasini B, Dianzani |
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Candidate driver genes involved in genome maintenance and DNA repair in Sézary syndrome.
Blood 2016 06 127 (26): 3387-97. Woollard Wesley J, Pullabhatla Venu, Lorenc Anna, Patel Varsha M, Butler Rosie M, Bayega Anthony, Begum Nelema, Bakr Farrah, Dedhia Kiran, Fisher Joshua, Aguilar-Duran Silvia, Flanagan Charlotte, Ghasemi Aria A, Hoffmann Ricarda M, Castillo-Mosquera Nubia, Nuttall Elisabeth A, Paul Arisa, Roberts Ceri A, Solomonidis Emmanouil G, Tarrant Rebecca, Yoxall Antoinette, Beyers Carl Z, Ferreira Silvia, Tosi Isabella, Simpson Michael A, de Rinaldis Emanuele, Mitchell Tracey J, Whittaker Sean |
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Complex karyotypes and KRAS and POT1 mutations impact outcome in CLL after chlorambucil-based chemotherapy or chemoimmunotherapy.
Blood 2016 07 128 (3): 395-404. Herling Carmen Diana, Klaumünzer Marion, Rocha Cristiano Krings, Altmüller Janine, Thiele Holger, Bahlo Jasmin, Kluth Sandra, Crispatzu Giuliano, Herling Marco, Schiller Joanna, Engelke Anja, Tausch Eugen, Döhner Hartmut, Fischer Kirsten, Goede Valentin, Nürnberg Peter, Reinhardt Hans Christian, Stilgenbauer Stephan, Hallek Michael, Kreuzer Karl-Ant |
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Genomic Profile of Chronic Lymphocytic Leukemia in Korea Identified by Targeted Sequencing.
PloS one 2016 11 (12): e0167641. Kim Jung-Ah, Hwang Byungjin, Park Si Nae, Huh Sunghoon, Im Kyongok, Choi Sungbin, Chung Hye Yoon, Huh JooRyung, Seo Eul-Ju, Lee Je-Hwan, Bang Duhee, Lee Dong So |
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Germline TERT promoter mutations are rare in familial melanoma.
Familial cancer 2015 Oct . Harland Mark, Petljak Mia, Robles-Espinoza Carla Daniela, Ding Zhihao, Gruis Nelleke A, van Doorn Remco, Pooley Karen A, Dunning Alison M, Aoude Lauren G, Wadt Karin A W, Gerdes Anne-Marie, Brown Kevin M, Hayward Nicholas K, Newton-Bishop Julia A, Adams David J, Bishop D Timot |
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POLE mutations in families predisposed to cutaneous melanoma.
Familial cancer 2015 Aug . Aoude Lauren G, Heitzer Ellen, Johansson Peter, Gartside Michael, Wadt Karin, Pritchard Antonia L, Palmer Jane M, Symmons Judith, Gerdes Anne-Marie, Montgomery Grant W, Martin Nicholas G, Tomlinson Ian, Kearsey Stephen, Hayward Nicholas |
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Association between TERT promoter polymorphisms and acute myeloid leukemia risk and prognosis.
Oncotarget 2015 Jul . Mosrati Mohamed Ali, Willander Kerstin, Falk Ingrid Jakobsen, Hermanson Monica, Höglund Martin, Stockelberg Dick, Wei Yuan, Lotfi Kourosh, Söderkvist Pet |
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Targeted next-generation sequencing in chronic lymphocytic leukemia: a high-throughput yet tailored approach will facilitate implementation in a clinical setting.
Haematologica 2015 Mar 100 (3): 370-6. Sutton Lesley-Ann, Ljungström Viktor, Mansouri Larry, Young Emma, Cortese Diego, Navrkalova Veronika, Malcikova Jitka, Muggen Alice F, Trbusek Martin, Panagiotidis Panagiotis, Davi Frederic, Belessi Chrysoula, Langerak Anton W, Ghia Paolo, Pospisilova Sarka, Stamatopoulos Kostas, Rosenquist Richa |
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Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma.
Journal of the National Cancer Institute 2015 Feb 107 (2): . Aoude Lauren G, Pritchard Antonia L, Robles-Espinoza Carla Daniela, Wadt Karin, Harland Mark, Choi Jiyeon, Gartside Michael, Quesada Víctor, Johansson Peter, Palmer Jane M, Ramsay Andrew J, Zhang Xijun, Jones Kristine, Symmons Judith, Holland Elizabeth A, Schmid Helen, Bonazzi Vanessa, Woods Susan, Dutton-Regester Ken, Stark Mitchell S, Snowden Helen, van Doorn Remco, Montgomery Grant W, Martin Nicholas G, Keane Thomas M, López-Otín Carlos, Gerdes Anne-Marie, Olsson Håkan, Ingvar Christian, Borg Ake, Gruis Nelleke A, Trent Jeffrey M, Jönsson Göran, Bishop D Timothy, Mann Graham J, Newton-Bishop Julia A, Brown Kevin M, Adams David J, Hayward Nicholas |
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Genetic modification of the relationship between phosphorylated tau and neurodegeneration.
Alzheimer's & dementia : the journal of the Alzheimer's Association 2014 Nov 10 (6): 637-645.e1. Hohman Timothy J, Koran Mary Ellen I, Thornton-Wells Tricia A, |
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A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.
Nature genetics 2014 Jan 46 (1): 56-60. Speedy Helen E, Di Bernardo Maria Chiara, Sava Georgina P, Dyer Martin J S, Holroyd Amy, Wang Yufei, Sunter Nicola J, Mansouri Larry, Juliusson Gunnar, Smedby Karin E, Roos Göran, Jayne Sandrine, Majid Aneela, Dearden Claire, Hall Andrew G, Mainou-Fowler Tryfonia, Jackson Graham H, Summerfield Geoffrey, Harris Robert J, Pettitt Andrew R, Allsup David J, Bailey James R, Pratt Guy, Pepper Chris, Fegan Chris, Rosenquist Richard, Catovsky Daniel, Allan James M, Houlston Richard |
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Prognostic impact of telomere maintenance gene polymorphisms in hepatocellular carcinoma patients with chronic Hepatitis B.
Hepatology (Baltimore, Md.) 2013 Aug . Jung SW, Park NH, Shin JW, Park BR, Kim CJ, Lee JE, Shin ES, Kim JA, Chung YH |
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Genetic polymorphisms in telomere pathway genes, telomere length, and breast cancer survival.
Breast cancer research and treatment 2012 Jul 134 (1): 393-400. Shen Jing, Gammon Marilie D, Terry Mary Beth, Bradshaw Patrick T, Wang Qiao, Teitelbaum Susan L, Neugut Alfred I, Santella Regina |
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Genetic variation in telomere maintenance genes, telomere length and breast cancer risk.
PloS one 2012 7 (9): e44308. Shen Jing, Terry Mary Beth, Liao Yuyan, Gurvich Irina, Wang Qiao, Senie Ruby T, Santella Regina |
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- Page last updated:Feb 24, 2021
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