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About 153 results

ALLMedicine™ Alpha Thalassemia Center

Research & Reviews  59 results

ATR-X syndrome: genetics, clinical spectrum, and management.
https://doi.org/10.1007/s00439-021-02361-5 10.1086/507565 10.1073/pnas.0704057104 10.1111/j.1399-0004.2006.00641.x 10.1002/ajmg.a.31400 10.1093/hmg/ddr109 10.1093/hmg/11.3.253 10.1172/JCI22329 10.1038/sj.ejhg.5201943 10.1371/journal.pone.0092915 10.1002/ajmg.a.33006 10.1007/BF00333470 10.1093/hmg/ddr107 10.1242/dev.105940 10.1371/journal.pgen.0020058 10.1002/9781119432692.ch7 10.1002/1096-8628(200023)97:3<204::AID-AJMG1038>3.0.CO;2-X 10.1016/0092-8674(95)90287-2 10.1038/74191 10.1016/j.cell.2010.01.003 10.1172/JCI63765 10.1097/MCD.0b013e32832a9ea5 10.1002/ajmg.a.38184 10.1126/science.1200609 10.1111/his.12812 10.1016/j.cell.2010.09.023 10.1016/S2213-8587(18)30339-5 10.1074/jbc.M112.411603 10.1038/modpathol.2015.114 10.1097/PAS.0000000000000324 10.1016/j.humpath.2015.05.019 10.1086/302499 10.1002/ajmg.a.32742 10.1136/jmg.35.4.284 10.1186/s11689-020-09319-0 10.1002/ajmg.a.31248 10.1038/s41431-018-0147-x 10.1093/hmg/ddn424 10.1001/jamaoncol.2020.0197 10.15252/embr.201643078 10.1371/journal.pgen.1008039 10.1007/s003359900781 10.1083/jcb.200706083 10.1186/s13072-017-0118-4 10.1038/nature10833 10.1523/JNEUROSCI.4048-08.2008 10.1038/s41431-018-0291-3 10.1002/pbc.26522 10.1093/hmg/ddt351 10.1016/j.celrep.2020.107838 10.1038/sj.ejhg.5201878 10.1038/sj.ejhg.5200800 10.1016/j.celrep.2015.03.036 10.1002/ajmg.a.30901 10.1038/s41467-019-08905-8 10.1172/JCI65634 10.1101/gr.101477.109
Human Genetics; León NY, Harley VR

Sep 16th, 2021 - ATR-X, an acronym for alpha thalassemia and mental retardation X-linked, syndrome is a congenital condition predominantly affecting males, characterized by mild to severe intellectual disability, facial, skeletal, urogenital, and hematopoietic ano...

Hb Maruchi α165 (E14) Ala>Pro; HBA1: c.196G>C: A new thalassemia hemoglobinopathy relat...
https://doi.org/10.1016/j.clinbiochem.2021.02.010
Clinical Biochemistry; Ropero P, M Nieto J et. al.

Mar 7th, 2021 - To describe a new mutation causing alpha thalassemia and its mechanism of action. The propositus was a 37-year-old man who presented maintained microcytosis without iron deficiency. Molecular characterization was undertaken using automatic sequenc...

Alpha thalassemia, but not βS-globin haplotypes, influence sickle cell anemia clinical ...
https://doi.org/10.1007/s00277-021-04450-x 10.1100/2012/949535 10.1101/cshperspect.a011783 10.1080/03630260701290233 10.1182/blood.V68.5.985.985 10.1016/S0889-8588(18)30426-X 10.1590/S1516-84842007000300003 10.1590/S1516-84842010005000005 10.1590/S1415-475738320140231 10.1111/j.1365-2141.2005.05411.x 10.1016/j.blre.2006.07.001 10.1182/blood-2005-04-1594 10.1111/j.1365-2141.2007.06643.x 10.1586/ehm.10.44 10.1016/j.jpeds.2011.07.018 10.4084/mjhid.2015.060 10.1016/S0022-3476(05)80897-2 10.3109/03630268908998842 10.1100/tsw.2009.10 10.1111/j.1600-0609.2011.01705.x 10.1172/JCI89741 10.1182/blood-2011-03-325258 10.1002/jmri.24785.Free-Breathing 10.1056/NEJM198504043121403 10.1111/j.1600-0609.2010.01528.x 10.1073/pnas.81.6.1771 10.1002/1096-8652(200011)65:3<192::AID-AJH3>3.0.CO;2-N 10.1056/NEJMra1510865 10.1002/ajh.23232 10.1097/00043426-199023000-00022 10.1016/j.cupe.2004.10.009 10.1590/S1415-47572011005000027 10.5581/1516-8484.20130048 10.1073/pnas.0611393104 10.1073/pnas.0711566105 10.1177/1535370216642047 10.1007/s40291-018-0370-8 10.1182/blood.V85.4.1111.bloodjournal8541111 10.1159/000320271 10.1056/NEJM198606193142501 10.1056/nejm199505183322001 10.1182/blood-2005-02-0548 10.1111/j.1365-2141.2004.05295.x 10.1111/j.1365-2141.2006.06074.x 10.1002/ajh.2830320113 10.1111/j.1365-2141.1993.tb04639.x 10.3233/CH-189012 10.1016/j.blre.2015.12.003 10.1182/bloodadvances.2019000193 10.3233/CH-189009 10.3109/03630269.2010.526003 10.1590/S1415-47572008000400003 10.1034/j.1600-0609.2000.90210.x 10.1182/blood.V84.2.643.643 10.1002/(SICI)1096-8652(200006)64:2<87::AID-AJH2>3.0.CO;2-B 10.1182/blood.V74.4.1403.1403 10.1002/ajh.2830450402 10.1182/blood-2011-01-332205 10.1111/ejh.12607 10.1186/1471-2350-4-6 10.1016/S0037-1963(01)90023-X 10.1002/ajh.10140 10.1097/01.sla.0000242716.66878.23 10.1159/000040890 10.1002/ajh20574 10.1056/NEJM198206173062402 10.5045/kjh.2011.46.3.192 10.1002/ajh.21838 10.1016/j.bjhh.2014.06.002 10.1002/jcla.22656 10.1371/journal.pone.0100516 10.1016/j.hoc.2013.11.006 10.1002/ajh.23711 10.1182/blood.V64.5.1042.1042 10.1056/NEJM199406093302303 10.1056/NEJM200005253422114 10.1097/01.md.0000189089.45003.52 10.1186/1471-2156-8-52 10.1007/s00277-020-04048-9 10.1002/ajpa.1330880304 10.1002/(SICI)1096-8652(199610)53:2<72::AID-AJH3>3.0.CO;2-0 10.1002/ajhb.21047 10.1590/S1516-84842010000100017 10.4236/ojbd.2014.42003 10.5935/1676-2444.20160001 10.1001/archpedi.1993.02160350071011 10.1002/ajh.2830360305 10.1016/j.bcmd.2012.12.005 10.1073/pnas.0804799105 10.1080/03630260601057153 10.1590/S0100-879X2003001000001 10.1081/HEM-120040310 10.1016/j.jped.2016.01.010 10.1089/omi.2014.0134 10.1182/bloodadvances.2017014555
Annals of Hematology; Hatzlhofer BLD, Pereira-Martins DA et. al.

Feb 16th, 2021 - Alpha thalassemia and beta-globin haplotype are considered classical genetic disease modifiers in sickle cell anemia (SCA) causing clinical heterogeneity. Nevertheless, their functional impact on SCA disease emergence and progression remains elusi...

Influence of UGT1A1 promoter polymorphism, α-thalassemia and βs haplotype in bilirubin ...
https://doi.org/10.1007/s00277-021-04422-1 10.1038/nrdp.2018.10 10.1002/ajh.21550 10.1080/03630260701290233 10.1172/JCI89741 10.1007/s40291-017-0283-y 10.1056/NEJM199511023331802 10.3978/j.issn.2304-3881.2014.08.04 10.1002/humu.9322 10.1007/s11033-018-4305-6 10.1016/j.bcmd.2006.10.160 10.1371/journal.pone.0077681 10.1016/S0168-8278(02)00359-8 10.1155/2013/173474 10.1002/kjm2.12077 10.1159/000040890 10.1111/j.1365-2141.2007.06643.x 10.1016/S0140-6736(96)91266-0 10.1016/j.bjhh.2016.09.009 10.4137/gei.s2626 10.1177/1535370216636726 10.1111/bjh.15462 10.1016/S1079-9796(03)00071-8 10.1002/ajh.21264 10.1002/ajmg.10209 10.1034/j.1399-0004.2003.00113.x 10.1093/tropej/fmp131 10.1002/ajhb.22871 10.1038/jp.2010.48 10.1111/bjh.16244 10.1111/ejh.12838 10.1111/j.1600-0609.2005.00477.x 10.4084/MJHID.2015.060 10.1097/00043426-200110000-00011 10.1007/s10038-008-0281-3 10.1186/s12881-019-0899-3 10.1182/blood-2004-02-0521 10.1002/ajh.23457 10.1007/s00277-014-2016-1 10.1080/03630260601057153 10.1136/adc.64.9.1342 10.1002/ajh.2830480307 10.1182/bloodadvances.2017014555 10.1111/bjh.13961 10.1073/pnas.0804799105 10.1111/bjh.12814 10.1371/journal.pone.0100516 10.1002/ajh
Annals of Hematology; Batista JVGF, Arcanjo GS et. al.

Feb 2nd, 2021 - Hyperbilirubinemia in patients with sickle cell anemia (SCA) as a result of enhanced erythrocyte destruction, lead to cholelithiasis development in a subset of patients. Evidence suggests that hyperbilirubinemia may be related to genetic variation...

Loss of alpha-globin genes in human subjects is associated with improved nitric oxide-m...
https://doi.org/10.1002/ajh.26058
American Journal of Hematology; Denton CC, Shah P et. al.

Nov 29th, 2020 - Alpha thalassemia is a hemoglobinopathy due to decreased production of the α-globin protein from loss of up to four α-globin genes, with one or two missing in the trait phenotype. Individuals with sickle cell disease who co-inherit the loss of one...

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