Below are the most recent publications written about "Genetic Diseases, X-Linked" by people in Profiles.
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Holmes LB, Nasri H, Westgate MN, Toufaily MH, Lin AE. The Active Malformations Surveillance Program, Boston in 1972-2012: Methodology and demographic characteristics. Birth Defects Res. 2018 01; 110(2):148-156.
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Bragg DC, Mangkalaphiban K, Vaine CA, Kulkarni NJ, Shin D, Yadav R, Dhakal J, Ton ML, Cheng A, Russo CT, Ang M, Acuña P, Go C, Franceour TN, Multhaupt-Buell T, Ito N, Müller U, Hendriks WT, Breakefield XO, Sharma N, Ozelius LJ. Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in TAF1. Proc Natl Acad Sci U S A. 2017 12 19; 114(51):E11020-E11028.
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Alroqi FJ, Charbonnier LM, Keles S, Ghandour F, Mouawad P, Sabouneh R, Mohammed R, Almutairi A, Chou J, Massaad MJ, Geha RS, Baz Z, Chatila TA. DOCK8 Deficiency Presenting as an IPEX-Like Disorder. J Clin Immunol. 2017 Nov; 37(8):811-819.
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Men CJ, Bujakowska KM, Comander J, Place E, Bedoukian EC, Zhu X, Leroy BP, Fulton AB, Pierce EA. The importance of genetic testing as demonstrated by two cases of CACNA1F-associated retinal generation misdiagnosed as LCA. Mol Vis. 2017; 23:695-706.
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Beste C, Mückschel M, Rosales R, Domingo A, Lee L, Ng A, Klein C, Münchau A. Dysfunctions in striatal microstructure can enhance perceptual decision making through deficits in predictive coding. Brain Struct Funct. 2017 Nov; 222(8):3807-3817.
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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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Brüggemann N, Rosales RL, Waugh JL, Blood AJ, Domingo A, Heldmann M, Jamora RD, Münchau A, Münte TF, Lee LV, Buchmann I, Klein C. Striatal dysfunction in X-linked dystonia-parkinsonism is associated with disease progression. Eur J Neurol. 2017 05; 24(5):680-686.
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Barmettler S, Otani IM, Minhas J, Abraham RS, Chang Y, Dorsey MJ, Ballas ZK, Bonilla FA, Ochs HD, Walter JE. Gastrointestinal Manifestations in X-linked Agammaglobulinemia. J Clin Immunol. 2017 Apr; 37(3):287-294.
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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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Walter U, Rosales R, Rocco A, Westenberger A, Domingo A, Go CL, Brüggemann N, Klein C, Lee LV, Dressler D. Sonographic alteration of substantia nigra is related to parkinsonism-predominant course of X-linked dystonia-parkinsonism. Parkinsonism Relat Disord. 2017 04; 37:43-49.