Below are the most recent publications written about "Genetic Diseases, X-Linked" by people in Profiles.
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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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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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Fong K, Wedgeworth EK, Lai-Cheong JE, Tosi I, Mellerio JE, Powell AM, McGrath JA. MBTPS2 mutation in a British pedigree with keratosis follicularis spinulosa decalvans. Clin Exp Dermatol. 2012 Aug; 37(6):631-4.
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Lumaka A, Mubungu G, Nsibu C, Tady BP, Lukusa T, Devriendt K. X-linked adrenal hypoplasia congenita: a novel DAX1 missense mutation and challenges for clinical diagnosis in Africa. Eur J Pediatr. 2012 Feb; 171(2):267-70.
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Schessl J, Taratuto AL, Sewry C, Battini R, Chin SS, Maiti B, Dubrovsky AL, Erro MG, Espada G, Robertella M, Saccoliti M, Olmos P, Bridges LR, Standring P, Hu Y, Zou Y, Swoboda KJ, Scavina M, Goebel HH, Mitchell CA, Flanigan KM, Muntoni F, B?nnemann CG. Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1. Brain. 2009 Feb; 132(Pt 2):452-64.
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Nino M, Matos-Miranda C, Maeda M, Chen L, Allanson J, Armour C, Greene C, Kamaluddeen M, Rita D, Medne L, Zackai E, Mansour S, Superti-Furga A, Lewanda A, Bober M, Rosenbaum K, Braverman N. Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata. Am J Med Genet A. 2008 Apr 15; 146A(8):997-1008.
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Kirwin SM, Vinette KM, Schwartz SB, Funanage VL, Gonzalez IL. Multiple transmissions of Barth syndrome through an oocyte donor with a de novo TAZ mutation. Fertil Steril. 2007 Apr; 87(4):976.e5-7.