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Gene & Protein in Disease                                            Genetics of arteriovenous malformations



            100. Al-Samkari H, Eng W, 2022, A precision medicine approach   malformations. Stroke, 37(1): 231–234.
               to hereditary hemorrhagic telangiectasia and complex      https://doi.org/10.1161/01.STR.0000195133.98378.4b
               vascular anomalies. J Thromb Haemost, 20(5): 1077–1088.
                                                               109. Kim H, Hysi PG, Pawlikowska L,  et al., 2008, Population
               https://doi.org/10.1111/jth.15715
                                                                  stratification in a case-control study of brain arteriovenous
            101. Nicholson CL, Flanagan S, Murati M, et al., 2022, Successful   malformation in latinos. Neuroepidemiology, 31(4): 224–228.
               management of an arteriovenous malformation with
               trametinib in a patient with capillary-malformation      https://doi.org/10.1159/000160215
               arteriovenous malformation syndrome and cardiac   110. Zhao Y, Li P, Fan W, et al., 2010, The rs522616 polymorphism
               compromise. Pediatr Dermatol, 39(2): 316–319.      in the matrix metalloproteinase-3 (MMP-3) gene is
               https://doi.org/10.1111/pde.14912                  associated with sporadic brain arteriovenous malformation
                                                                  in a Chinese population. J Clin Neurosci, 17(12): 1568–1572.
            102. Zhu W, Chen W, Zou D, et al., 2018, Thalidomide reduces
               hemorrhage of brain arteriovenous malformations in a      https://doi.org/10.1016/j.jocn.2010.04.023
               mouse model. Stroke, 49(5): 1232–1240.          111. Fontanella M, Rubino E, Crobeddu E,  et al., 2012,
               https://doi.org/10.1161/STROKEAHA.117.020356       Brain arteriovenous malformations are associated with
                                                                  interleukin-1 cluster gene polymorphisms.  Neurosurgery,
            103. Chen W, Guo Y, Walker EJ, et al., 13, Reduced mural cell   70(1): 12–17.
               coverage and impaired vessel integrity after angiogenic
               stimulation in the Alk1-deficient brain. Arterioscler Thromb      https://doi.org/10.1227/NEU.0b013e31822d9881
               Vasc Biol, 33(2): 305–310.                      112. Kim H, Hysi PG, Pawlikowska L, et al., 2009, Common variants
               https://doi.org/10.1161/ATVBAHA.112.300485         in interleukin-1-beta gene are associated with intracranial
                                                                  hemorrhage and susceptibility to brain arteriovenous
            104. McLaren  O,  Ronan  N, 2019,  Recurrent  epistaxis  in  an   malformation. Cerebrovasc Dis, 27(2): 176–182.
               adolescent. BMJ, 2019: l5393.
                                                                  https://doi.org/10.1159/000185609
               https://doi.org/10.1136/bmj.l5393
                                                               113. Song M, Bai H, Zhang P, et al., 2023, Promising applications
            105. Agarwal N, Schalet G, Shah M, et al., 2012, Endovascular   of human-derived saliva biomarker testing in clinical
               management of cerebral arteriovenous malformations in   diagnostics. Int J Oral Sci, 15(1): 2.
               pregnancy: Two case reports and a review of the literature.
               J Neurol Res, 2: 215–220.                          https://doi.org/10.1038/s41368-022-00209-w
               https://doi.org/10.4021/jnr148w                 114. Shanthikumar S, Bekhit E, Bracken J, 2023, MRI as
                                                                  screening for pulmonary arteriovenous malformations in
            106. El Sissy FN, Wassef M, Faucon B,  et  al., 2022, Somatic   hereditary hemorrhagic telangiectasia.  Pediatr Pulmonol,
               mutational landscape of extracranial arteriovenous   58(4): 1281–1282.
               malformations and phenotypic correlations.  J  Eur Acad
               Dermatol Venereol, 36(6): 905–912.                 https://doi.org/10.1002/ppul.26297
               https://doi.org/10.1111/jdv.18046               115. McDonald  J, Bayrak-Toydemir  P,  Pyeritz  RE,  2011,
                                                                  Hereditary hemorrhagic telangiectasia: An overview of
            107. Ota T, Komiyama M, 2020, Pathogenesis of non-hereditary   diagnosis, management, and pathogenesis.  Genet Med,
               brain arteriovenous malformation and therapeutic   13(7): 607–616.
               implications. Interv Neuroradiol, 26(3): 244–253.
                                                                  https://doi.org/10.1097/GIM.0b013e3182136d32
               https://doi.org/10.1177/1591019920901931
                                                               116. Vollherbst DF, Bendszus M, Möhlenbruch MA, 2020,
            108. Achrol AS, Pawlikowska L, McCulloch CE,  et al., 2006,   Vascular malformations of the brain and its coverings.
               Tumor necrosis factor-α–238G>A promoter polymorphism
               is associated with increased risk of new hemorrhage in   J Neuroendovascular Ther, 14(8): 285–294.
               the  natural  course  of  patients  with  brain  arteriovenous      https://doi.org/10.5797/jnet.ra.2020-0020
















            Volume 2 Issue 2 (2023)                         17                       https://doi.org/10.36922/gpd.0312
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