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BRIP1-Related Disorders

MedGen UID:
893358
Concept ID:
CN239206
Disease or Syndrome

Professional guidelines

PubMed

Northrup H, Aronow ME, Bebin EM, Bissler J, Darling TN, de Vries PJ, Frost MD, Fuchs Z, Gosnell ES, Gupta N, Jansen AC, Jóźwiak S, Kingswood JC, Knilans TK, McCormack FX, Pounders A, Roberds SL, Rodriguez-Buritica DF, Roth J, Sampson JR, Sparagana S, Thiele EA, Weiner HL, Wheless JW, Towbin AJ, Krueger DA; International Tuberous Sclerosis Complex Consensus Group
Pediatr Neurol 2021 Oct;123:50-66. Epub 2021 Jul 24 doi: 10.1016/j.pediatrneurol.2021.07.011. PMID: 34399110
Garcia-Pavia P, Rapezzi C, Adler Y, Arad M, Basso C, Brucato A, Burazor I, Caforio ALP, Damy T, Eriksson U, Fontana M, Gillmore JD, Gonzalez-Lopez E, Grogan M, Heymans S, Imazio M, Kindermann I, Kristen AV, Maurer MS, Merlini G, Pantazis A, Pankuweit S, Rigopoulos AG, Linhart A
Eur Heart J 2021 Apr 21;42(16):1554-1568. doi: 10.1093/eurheartj/ehab072. PMID: 33825853Free PMC Article
Greenberg JA, Hsu J, Bawazeer M, Marshall J, Friedrich JO, Nathens A, Coburn N, May GR, Pearsall E, McLeod RS
Can J Surg 2016 Apr;59(2):128-40. doi: 10.1503/cjs.015015. PMID: 27007094Free PMC Article

Recent clinical studies

Etiology

Gudjonsson A, Gudmundsdottir V, Axelsson GT, Gudmundsson EF, Jonsson BG, Launer LJ, Lamb JR, Jennings LL, Aspelund T, Emilsson V, Gudnason V
Nat Commun 2022 Jan 25;13(1):480. doi: 10.1038/s41467-021-27850-z. PMID: 35078996Free PMC Article
Vermeulen R, Schymanski EL, Barabási AL, Miller GW
Science 2020 Jan 24;367(6476):392-396. doi: 10.1126/science.aay3164. PMID: 31974245Free PMC Article
Dantzer R, O'Connor JC, Freund GG, Johnson RW, Kelley KW
Nat Rev Neurosci 2008 Jan;9(1):46-56. doi: 10.1038/nrn2297. PMID: 18073775Free PMC Article
Smith GD, Ebrahim S
Int J Epidemiol 2003 Feb;32(1):1-22. doi: 10.1093/ije/dyg070. PMID: 12689998
Link BG, Phelan J
J Health Soc Behav 1995;Spec No:80-94. PMID: 7560851

Diagnosis

Kwan J, Vullaganti M
Muscle Nerve 2022 Sep;66(3):240-252. Epub 2022 May 24 doi: 10.1002/mus.27567. PMID: 35607838
Braicu C
Int J Mol Sci 2021 Nov 30;22(23) doi: 10.3390/ijms222312944. PMID: 34884749Free PMC Article
Giannetti A, Filice E, Caffarelli C, Ricci G, Pession A
Medicina (Kaunas) 2021 Jan 30;57(2) doi: 10.3390/medicina57020124. PMID: 33573161Free PMC Article
Naviaux RK
Mitochondrion 2014 May;16:7-17. Epub 2013 Aug 24 doi: 10.1016/j.mito.2013.08.006. PMID: 23981537
Aycock RD, Kass DA
South Med J 2012 Jan;105(1):43-7. doi: 10.1097/SMJ.0b013e31823c413e. PMID: 22189666

Therapy

Borghesan M, Hoogaars WMH, Varela-Eirin M, Talma N, Demaria M
Trends Cell Biol 2020 Oct;30(10):777-791. Epub 2020 Aug 13 doi: 10.1016/j.tcb.2020.07.002. PMID: 32800659
Woodcock J, LaVange LM
N Engl J Med 2017 Jul 6;377(1):62-70. doi: 10.1056/NEJMra1510062. PMID: 28679092
Holland EG, Degruy FV
Am Fam Physician 1997 Nov 1;56(7):1781-8, 1791-2. PMID: 9371009
Andrews G
Aust N Z J Psychiatry 1989 Jun;23(2):181-6. doi: 10.3109/00048678909062134. PMID: 2673195
Maier W, Buller R, Philipp M, Heuser I
J Affect Disord 1988 Jan-Feb;14(1):61-8. doi: 10.1016/0165-0327(88)90072-9. PMID: 2963053

Prognosis

Hirata M, Nagai A, Kamatani Y, Ninomiya T, Tamakoshi A, Yamagata Z, Kubo M, Muto K, Kiyohara Y, Mushiroda T, Murakami Y, Yuji K, Furukawa Y, Zembutsu H, Tanaka T, Ohnishi Y, Nakamura Y; BioBank Japan Cooperative Hospital Group, Matsuda K
J Epidemiol 2017 Mar;27(3S):S22-S28. Epub 2017 Feb 10 doi: 10.1016/j.je.2016.12.006. PMID: 28190660Free PMC Article
Del Principe D, Marconi M, Matarrese P, Villani A, Malorni W
Curr Mol Med 2013 May;13(4):499-513. doi: 10.2174/1566524011313040004. PMID: 23438904
Knight JA
Ann Clin Lab Sci 2012 Summer;42(3):320-37. PMID: 22964623
Tsai TT, Nienaber CA, Eagle KA
Circulation 2005 Dec 13;112(24):3802-13. doi: 10.1161/CIRCULATIONAHA.105.534198. PMID: 16344407
Saliba WI, Natale A
Med Clin North Am 2001 Mar;85(2):267-304. doi: 10.1016/s0025-7125(05)70316-3. PMID: 11233949

Clinical prediction guides

Ducazu O, Degroote H, Geerts A, Hoorens A, Schouten J, Van Vlierberghe H, Verhelst X
Acta Gastroenterol Belg 2021 Jul-Sep;84(3):487-495. doi: 10.51821/84.3.014. PMID: 34599574
Carroll BJ, Schermerhorn ML, Manning WJ
Heart 2020 Feb;106(3):182-189. Epub 2019 Dec 10 doi: 10.1136/heartjnl-2019-314897. PMID: 31822571
Clemens RK, Pfammatter T, Meier TO, Alomari AI, Amann-Vesti BR
Vasa 2015 Mar;44(2):92-105. doi: 10.1024/0301-1526/a000414. PMID: 25698387
Scott IC, Scott DL
Clin Exp Rheumatol 2014 Sep-Oct;32(5 Suppl 85):S-7-12. Epub 2014 Oct 30 PMID: 25365082
Agatston AS, Janowitz WR, Hildner FJ, Zusmer NR, Viamonte M Jr, Detrano R
J Am Coll Cardiol 1990 Mar 15;15(4):827-32. doi: 10.1016/0735-1097(90)90282-t. PMID: 2407762

Recent systematic reviews

Balboni TA, VanderWeele TJ, Doan-Soares SD, Long KNG, Ferrell BR, Fitchett G, Koenig HG, Bain PA, Puchalski C, Steinhauser KE, Sulmasy DP, Koh HK
JAMA 2022 Jul 12;328(2):184-197. doi: 10.1001/jama.2022.11086. PMID: 35819420
Slater J, Joober R, Koborsy BL, Mitchell S, Sahlas E, Palmer C
Neurosci Biobehav Rev 2022 Aug;139:104752. Epub 2022 Jun 26 doi: 10.1016/j.neubiorev.2022.104752. PMID: 35760387
Sosa-Reina MD, Nunez-Nagy S, Gallego-Izquierdo T, Pecos-Martín D, Monserrat J, Álvarez-Mon M
Biomed Res Int 2017;2017:2356346. Epub 2017 Sep 20 doi: 10.1155/2017/2356346. PMID: 29291206Free PMC Article
Sorensen CJ, DeSanto K, Borgelt L, Phillips KT, Monte AA
J Med Toxicol 2017 Mar;13(1):71-87. Epub 2016 Dec 20 doi: 10.1007/s13181-016-0595-z. PMID: 28000146Free PMC Article
Karmacharya P, Donato AA, Aryal MR, Ghimire S, Pathak R, Shah K, Shrestha P, Poudel D, Wasser T, Subedi A, Giri S, Jalota L, Olivé A
Clin Exp Rheumatol 2016 May-Jun;34(3):404-15. Epub 2016 Mar 25 PMID: 27050250

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