Below are the most recent publications written about "Genetic Diseases, X-Linked" by people in Profiles.
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Iqbal NS, Jascur TA, Harrison SM, Edwards AB, Smith LT, Choi ES, Arevalo MK, Chen C, Zhang S, Kern AJ, Scheuerle AE, Sanchez EJ, Xing C, Baker LA. Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene. BMC Med Genet. 2020 02 21; 21(1):38.
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Akula JD, Ambrosio L, Howard FI, Hansen RM, Fulton AB. Extracting the ON and OFF contributions to the full-field photopic flash electroretinogram using summed growth curves. Exp Eye Res. 2019 12; 189:107827.
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Bragg DC, Sharma N, Ozelius LJ. X-Linked Dystonia-Parkinsonism: recent advances. Curr Opin Neurol. 2019 08; 32(4):604-609.
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Monies D, Abouelhoda M, Assoum M, Moghrabi N, Rafiullah R, Almontashiri N, Alowain M, Alzaidan H, Alsayed M, Subhani S, Cupler E, Faden M, Alhashem A, Qari A, Chedrawi A, Aldhalaan H, Kurdi W, Khan S, Rahbeeni Z, Alotaibi M, Goljan E, Elbardisy H, ElKalioby M, Shah Z, Alruwaili H, Jaafar A, Albar R, Akilan A, Tayeb H, Tahir A, Fawzy M, Nasr M, Makki S, Alfaifi A, Akleh H, Yamani S, Bubshait D, Mahnashi M, Basha T, Alsagheir A, Abu Khaled M, Alsaleem K, Almugbel M, Badawi M, Bashiri F, Bohlega S, Sulaiman R, Tous E, Ahmed S, Algoufi T, Al-Mousa H, Alaki E, Alhumaidi S, Alghamdi H, Alghamdi M, Sahly A, Nahrir S, Al-Ahmari A, Alkuraya H, Almehaidib A, Abanemai M, Alsohaibaini F, Alsaud B, Arnaout R, Abdel-Salam GMH, Aldhekri H, AlKhater S, Alqadi K, Alsabban E, Alshareef T, Awartani K, Banjar H, Alsahan N, Abosoudah I, Alashwal A, Aldekhail W, Alhajjar S, Al-Mayouf S, Alsemari A, Alshuaibi W, Altala S, Altalhi A, Baz S, Hamad M, Abalkhail T, Alenazi B, Alkaff A, Almohareb F, Al Mutairi F, Alsaleh M, Alsonbul A, Alzelaye S, Bahzad S, Manee AB, Jarrad O, Meriki N, Albeirouti B, Alqasmi A, AlBalwi M, Makhseed N, Hassan S, Salih I, Salih MA, Shaheen M, Sermin S, Shahrukh S, Hashmi S, Shawli A, Tajuddin A, Tamim A, Alnahari A, Ghemlas I, Hussein M, Wali S, Murad H, Meyer BF, Alkuraya FS. Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population. Am J Hum Genet. 2019 06 06; 104(6):1182-1201.
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Westenberger A, Reyes CJ, Saranza G, Dobricic V, Hanssen H, Domingo A, Laabs BH, Schaake S, Pozojevic J, Rakovic A, Grütz K, Begemann K, Walter U, Dressler D, Bauer P, Rolfs A, Münchau A, Kaiser FJ, Ozelius LJ, Jamora RD, Rosales RL, Diesta CCE, Lohmann K, König IR, Brüggemann N, Klein C. A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism. Ann Neurol. 2019 06; 85(6):812-822.
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Brüggemann N, Domingo A, Rasche D, Moll CKE, Rosales RL, Jamora RDG, Hanssen H, Münchau A, Graf J, Weissbach A, Tadic V, Diesta CC, Volkmann J, Kühn A, Münte TF, Tronnier V, Klein C. Association of Pallidal Neurostimulation and Outcome Predictors With X-linked Dystonia Parkinsonism. JAMA Neurol. 2019 02 01; 76(2):211-216.
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Ducamp S, Fleming MD. The molecular genetics of sideroblastic anemia. Blood. 2019 01 03; 133(1):59-69.
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Sprenger A, Hanssen H, Hagedorn I, Prasuhn J, Rosales RL, Jamora RDG, Diesta CC, Domingo A, Klein C, Brüggemann N, Helmchen C. Eye movement deficits in X-linked dystonia-parkinsonism are related to striatal degeneration. Parkinsonism Relat Disord. 2019 04; 61:170-178.
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Hanssen H, Heldmann M, Prasuhn J, Tronnier V, Rasche D, Diesta CC, Domingo A, Rosales RL, Jamora RD, Klein C, Münte TF, Brüggemann N. Basal ganglia and cerebellar pathology in X-linked dystonia-parkinsonism. Brain. 2018 10 01; 141(10):2995-3008.
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Keszei M, Record J, Kritikou JS, Wurzer H, Geyer C, Thiemann M, Drescher P, Brauner H, Köcher L, James J, He M, Baptista MA, Dahlberg CI, Biswas A, Lain S, Lane DP, Song W, Pütsep K, Vandenberghe P, Snapper SB, Westerberg LS. Constitutive activation of WASp in X-linked neutropenia renders neutrophils hyperactive. J Clin Invest. 2018 08 31; 128(9):4115-4131.