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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 7 (of 7 Records)

Query Trace: Disease and TINF2[original query]
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
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
Loci for human leukocyte telomere length in the Singaporean Chinese population and trans-ethnic genetic studies. GWAS Catalog
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
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
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