Human Genome Epidemiology Literature Finder
Records 1 - 20 (of 20 Records) |
Query Trace: TINF2[original query] |
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TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. Blood 2008 Nov 112 (9): 3594-600. Walne Amanda J, Vulliamy Tom, Beswick Richard, Kirwan Michael, Dokal Inderje |
Sequence analysis of the shelterin telomere protection complex genes in dyskeratosis congenita. Journal of medical genetics 2011 1 48 (4): 285-8. Savage Sharon A, Giri Neelam, Jessop Lea, Pike Kristen, Plona Teri, Burdett Laurie, Alter Blanche |
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 |
Novel Mutation of the TINF2 Gene in a Patient with Dyskeratosis Congenita. Case reports in dermatology 0 7 (2): 212-9. Panichareon Benjaporn, Seedapan Thanawat, Thongnoppakhun Wanna, Limwongse Chanin, Pithukpakorn Manop, Limjindaporn Thawornch |
[Genotype analysis and telomere length measure in patients with dyskeratosis congenita]. Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui = Journal of experimental hematology / Chinese Association of Pathophysiology 2015 Feb 23 (1): 212-6. Zhang Jia-Yuan, An Wen-Bin, Zhang Li, Chang Li-Xian, Qi Ben-Quan, Liu Tian-Feng, Liu Fang, Yang Wen-Yu, Guo Ye, Zhu Xiao-F |
Novel variants in Nordic patients referred for genetic testing of telomere-related disorders. European journal of human genetics : EJHG 2018 Feb . Norberg Anna, Rosén Anna, Raaschou-Jensen Klas, Kjeldsen Lars, Moilanen Jukka S, Paulsson-Karlsson Ylva, Baliakas Panagiotis, Lohi Olli, Ahmed Aymen, Kittang Astrid O, Larsson Pär, Roos Göran, Degerman Sofie, Hultdin Magn |
Myelodysplastic syndromes and idiopathic pulmonary fibrosis: a dangerous liaison. Respiratory research 2019 8 20 (1): 182. Papiris Spyros A, Tsirigotis Panagiotis, Kannengiesser Caroline, Kolilekas Lykourgos, Gkirkas Konstantinos, Papaioannou Andriana I, Revy Patrick, Giouleka Paschalina, Papadaki Georgia, Kagouridis Konstantinos, Pappa Vassiliki, Borie Raphael, Boileau Catherine, Bouros Demosthenes, Crestani Bruno, Manali Effrosyni |
Rare Protein-Altering Telomere-related Gene Variants in Patients with Chronic Hypersensitivity Pneumonitis. American journal of respiratory and critical care medicine 2019 Jul . Ley Brett, Torgerson Dara G, Oldham Justin M, Adegunsoye Ayodeji, Liu Shuo, Li Jie, Elicker Brett M, Henry Travis S, Golden Jeffrey A, Jones Kirk D, Dressen Amy, Yaspan Brian L, Arron Joseph R, Noth Imre, Hoffmann Thomas J, Wolters Paul |
Loci for human leukocyte telomere length in the Singaporean Chinese population and trans-ethnic genetic studies.
Nature communications 2019 06 10 (1): 2491. Dorajoo Rajkumar, Chang Xuling, Gurung Resham Lal, Li Zheng, Wang Ling, Wang Renwei, Beckman Kenneth B, Adams-Haduch Jennifer, M Yiamunaa, Liu Sylvia, Meah Wee Yang, Sim Kar Seng, Lim Su Chi, Friedlander Yechiel, Liu Jianjun, van Dam Rob M, Yuan Jian-Min, Koh Woon-Puay, Khor Chiea Chuen, Heng Chew-Ki |
Prognostic significance of pulmonary function tests in dyskeratosis congenita, a telomere biology disorder. ERJ open research 2019 11 5 (4): . Giri Neelam, Ravichandran Sandhiya, Wang Youjin, Gadalla Shahinaz M, Alter Blanche P, Fontana Joseph, Savage Sharon |
Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders. The Journal of pediatrics 2020 9 230 55-61.e4. Himes Ryan W, Chiou Eric H, Queliza Karen, Shouval Dror S, Somech Raz, Agarwal Suneet, Jajoo Kunal, Ziegler David S, Kratz Christian P, Huang James, Lucas Tiffany L, Myers Kasiani C, Nelson Adam S, DiNardo Courtney D, Alter Blanche P, Giri Neelam, Khincha Payal P, McReynolds Lisa J, Dufour Carlo, Pierri Filomena, Goldman Frederick D, Sherif Youmna, Savage Sharon A, Miloh Tamir, Bertuch Alison |
TINF2 is a haploinsufficient tumor suppressor that limits telomere length. eLife 2020 12 9 . Schmutz Isabelle, Mensenkamp Arjen R, Takai Kaori K, Haadsma Maaike, Spruijt Liesbeth, de Voer Richarda M, Choo Seunga Sara, Lorbeer Franziska K, van Grinsven Emma J, Hockemeyer Dirk, Jongmans Marjolijn Cj, de Lange Tit |
A Truncating Germline Mutation of TINF2 in Individuals with Thyroid Cancer or Melanoma Results in Longer Telomeres. Thyroid : official journal of the American Thyroid Association 2020 1 30 (2): 204-213. He Huiling, Li Wei, Comiskey Daniel F, Liyanarachchi Sandya, Nieminen Taina T, Wang Yanqiang, DeLap Katherine E, Brock Pamela, de la Chapelle Albe |
Pulmonary fibrosis in dyskeratosis congenita: a case report with a PRISMA-compliant systematic review. BMC pulmonary medicine 2021 9 21 (1): 279. Wang Ping, Xu Zuoj |
Disease progression and clinical outcomes in telomere biology disorders. Blood 2021 12 139 (12): 1807-1819. Niewisch Marena R, Giri Neelam, McReynolds Lisa J, Alsaggaf Rotana, Bhala Sonia, Alter Blanche P, Savage Sharon |
[Telomeres and lung]. Revue des maladies respiratoires 2022 6 39 (7): 595-606. Guérin C, Crestani B, Dupin C, Kawano-Dourado L, Ba I, Kannengiesser C, Borie |
Truncating TINF2 p.Tyr312Ter variant and inherited breast cancer susceptibility. Familial cancer 2022 May . Koivuluoma Susanna, Vorimo Sandra, Mattila Tiina M, Tervasmäki Anna, Kumpula Timo, Kuismin Outi, Winqvist Robert, Moilanen Jukka, Mantere Tuomo, Pylkäs Kat |
Genetic Analysis of a Family with Multiple Incidences of Prostate Cancer. Case reports in oncology 2022 3 15 (1): 86-90. Feng Ninghan, Liu Fengping, Xu Xinyu, Wang Yang, Sheng Qingsong, Zhu Kuich |
TINF2 is a major susceptibility gene in Danish patients with multiple primary melanoma. HGG advances 2023 8 4 (4): 100225. Marlene Richter Jensen, Anne Marie Jelsig, Anne-Marie Gerdes, Lisbet Rosenkrantz Hölmich, Kati Hannele Kainu, Henrik Frank Lorentzen, Mary Højgaard Hansen, Mads Bak, Peter A Johansson, Nicholas K Hayward, Thomas Van Overeem Hansen, Karin A W Wa |
Telomere Length as a New Risk Marker of Early-Onset Colorectal Cancer. International journal of molecular sciences 2023 2 24 (4): . Martel-Martel Abel, Corchete Luis A, Martí Marc, Vidal-Tocino Rosario, Hurtado Elena, Álvaro Edurne, Jiménez Fernando, Jiménez-Toscano Marta, Balaguer Francesc, Sanz Gonzalo, López Irene, Hernández-Villafranca Sergio, Ballestero Araceli, Vivas Alfredo, Melone Sirio, Pastor Carlos, Brandáriz Lorena, Gómez-Marcos Manuel A, Cruz-Hernández Juan J, Perea José, González-Sarmiento Rogel |
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