Below are the most recent publications written about "Genetic Diseases, X-Linked" by people in Profiles.
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Burgei J, Alsheimer KM, Lantry J, Hehn B. Mediastinal lymphadenopathy due to VEXAS syndrome. BMJ Case Rep. 2024 Aug 08; 17(8).
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Chanchani SR, Xie H, Sekhon G, Melikishvili AM, Moyer Harasink S, Pall H, Giampietro PF. A male infant with Xq22.2q22.3 duplication containing PLP1 and MID2. Mol Genet Genomic Med. 2020 03; 8(3):e1078.
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Scott NL, Tran KD, Russell JF, Hinkle JW, Cernichiaro-Espinosa LA, Lauer A, Berrocal AM. A Novel Pathogenic Variant in NDP Gene With Incomplete Penetrance Manifests as X-Linked Familial Exudative Vitreoretinopathy. Ophthalmic Surg Lasers Imaging Retina. 2019 02 01; 50(2):120-124.
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Todorich B, Thanos A, Yonekawa Y, Capone A. Repair of Total Tractional Retinal Detachment in Norrie Disease: Report of Technique and Successful Surgical Outcome. Ophthalmic Surg Lasers Imaging Retina. 2017 03 01; 48(3):260-262.
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Kinane TB, Lin AE, Lahoud-Rahme M, Westra SJ, Mark EJ. Case 4-2017. A 2-Month-Old Girl with Growth Retardation and Respiratory Failure. N Engl J Med. 2017 02 09; 376(6):562-574.
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Starokadomskyy P, Gemelli T, Rios JJ, Xing C, Wang RC, Li H, Pokatayev V, Dozmorov I, Khan S, Miyata N, Fraile G, Raj P, Xu Z, Xu Z, Ma L, Lin Z, Wang H, Yang Y, Ben-Amitai D, Orenstein N, Mussaffi H, Baselga E, Tadini G, Grunebaum E, Sarajlija A, Krzewski K, Wakeland EK, Yan N, de la Morena MT, Zinn AR, Burstein E. DNA polymerase-a regulates the activation of type I interferons through cytosolic RNA:DNA synthesis. Nat Immunol. 2016 May; 17(5):495-504.
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Weaver KN, El Hallek M, Hopkin RJ, Sund KL, Henrickson M, Del Gaudio D, Yuksel A, Acar GO, Bober MB, Kim J, Boyadjiev SA. Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis. Am J Med Genet A. 2014 Apr; 164A(4):1062-8.
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Wuthisiri W, Lingao MD, Capasso JE, Levin AV. Lyonization in ophthalmology. Curr Opin Ophthalmol. 2013 Sep; 24(5):389-97.
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Marsh RA, Rao K, Satwani P, Lehmberg K, M?ller I, Li D, Kim MO, Fischer A, Latour S, Sedlacek P, Barlogis V, Hamamoto K, Kanegane H, Milanovich S, Margolis DA, Dimmock D, Casper J, Douglas DN, Amrolia PJ, Veys P, Kumar AR, Jordan MB, Bleesing JJ, Filipovich AH. Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes. Blood. 2013 Feb 07; 121(6):877-83.
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Aradhya S, Lewis R, Bonaga T, Nwokekeh N, Stafford A, Boggs B, Hruska K, Smaoui N, Compton JG, Richard G, Suchy S. Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders. Genet Med. 2012 Jun; 14(6):594-603.