HuGE Literature Finder
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Modulatory effect of single nucleotide polymorphism in Xmn1, BCL11A and HBS1L-MYB loci on foetal haemoglobin levels in ß-thalassemia major and Intermedia patients. JPMA. The Journal of the Pakistan Medical Association 2021 May 71 (5): 1394-1398. Bashir Shabnam, Mahmood Saqib, Mohsin Shahida, Tabassum Iqra, Ghafoor Mahmood, Sajjad Oshe |
A genetic score for the prediction of beta-thalassemia severity. Haematologica 2015 Apr 100 (4): 452-7. Danjou Fabrice, Francavilla Marcella, Anni Franco, Satta Stefania, Demartis Franca-Rosa, Perseu Lucia, Manca Matteo, Sollaino Maria Carla, Manunza Laura, Mereu Elisabetta, Marceddu Giuseppe, Pissard Serge, Joly Philippe, Thuret Isabelle, Origa Raffaella, Borg Joseph, Forni Gian Luca, Piga Antonio, Lai Maria Eliana, Badens Catherine, Moi Paolo, Galanello Ren |
The influence of the BCL11A polymorphism on the phenotype of patients with beta thalassemia could be affected by the beta globin locus control region and/or the Xmn1-HBG2 genotypic background. Blood cells, molecules & diseases 2013 Aug 51 (2): 80-4. Neishabury Maryam, Zamani Fahimeh, Keyhani Elahe, Azarkeivan Azita, Abedini Seyedeh Sedigheh, Eslami Masumeh Sadat, Kakroodi Setareh Talebi, Vesiehsari Mahjoobeh Jafari, Najmabadi Hosse |
The XmnI (G)gamma polymorphism influences hemoglobin F synthesis contrary to BCL11A and HBS1L-MYB SNPs in a cohort of 57 beta-thalassemia intermedia patients. Blood cells, molecules & diseases 2010 Aug 45 (2): 124-7. Nguyen Thi Khanh Tien, Joly Philippe, Bardel Claire, Moulsma Mustapha, Bonello-Palot Nathalie, Francina Ala |
A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E.
![]() Human genetics 2010 Mar 127 (3): 303-14. Nuinoon Manit, Makarasara Wattanan, Mushiroda Taisei, Setianingsih Iswari, Wahidiyat Pustika Amalia, Sripichai Orapan, Kumasaka Natsuhiko, Takahashi Atsushi, Svasti Saovaros, Munkongdee Thongperm, Mahasirimongkol Surakameth, Peerapittayamongkol Chayanon, Viprakasit Vip, Kamatani Naoyuki, Winichagoon Pranee, Kubo Michiaki, Nakamura Yusuke, Fucharoen Suth |
Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster.
![]() Blood 2010 Mar 115 (9): 1815-22. Solovieff Nadia, Milton Jacqueline N, Hartley Stephen W, Sherva Richard, Sebastiani Paola, Dworkis Daniel A, Klings Elizabeth S, Farrer Lindsay A, Garrett Melanie E, Ashley-Koch Allison, Telen Marilyn J, Fucharoen Supan, Ha Shau Yin, Li Chi-Kong, Chui David H K, Baldwin Clinton T, Steinberg Martin |
Amelioration of Sardinian beta0 thalassemia by genetic modifiers. Blood 2009 Oct 114 (18): 3935-7. Galanello Renzo, Sanna Serena, Perseu Lucia, Sollaino Maria Carla, Satta Stefania, Lai Maria Eliana, Barella Susanna, Uda Manuela, Usala Gianluca, Abecasis Goncalo R, Cao Anton |
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.
![]() Proceedings of the National Academy of Sciences of the United States of America 2008 Feb 105 (5): 1620-5. Uda Manuela, Galanello Renzo, Sanna Serena, Lettre Guillaume, Sankaran Vijay G, Chen Weimin, Usala Gianluca, Busonero Fabio, Maschio Andrea, Albai Giuseppe, Piras Maria Grazia, Sestu Natascia, Lai Sandra, Dei Mariano, Mulas Antonella, Crisponi Laura, Naitza Silvia, Asunis Isadora, Deiana Manila, Nagaraja Ramaiah, Perseu Lucia, Satta Stefania, Cipollina Maria Dolores, Sollaino Carla, Moi Paolo, Hirschhorn Joel N, Orkin Stuart H, Abecasis Gonçalo R, Schlessinger David, Cao Anton |
A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15.
![]() Nature genetics 2007 Oct 39 (10): 1197-9. Menzel Stephan, Garner Chad, Gut Ivo, Matsuda Fumihiko, Yamaguchi Masao, Heath Simon, Foglio Mario, Zelenika Diana, Boland Anne, Rooks Helen, Best Steve, Spector Tim D, Farrall Martin, Lathrop Mark, Thein Swee L |
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