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BRIP1-related disorder

MedGen UID:
893358
Concept ID:
CN239206
Disease or Syndrome
Synonyms: BRIP1-related condition; BRIP1-Related Disorders

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
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Recent clinical studies

Etiology

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Diagnosis

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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
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Prognosis

Knight JA
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Clinical prediction guides

Morrone D, Gentile F, Aimo A, Cameli M, Barison A, Picoi ME, Guglielmo M, Villano A, DeVita A, Mandoli GE, Pastore MC, Barillà F, Mancone M, Pedrinelli R, Indolfi C, Filardi PP, Muscoli S, Tritto I, Bergamaschi L, Pizzi C, Camici PG, Marzilli M, Crea F, Caterina R, Pontone G, Neglia D, Lanza GA; Coronary Physiopathology and Microcirculation Working Group and Cluster Imaging of the Italian Society of Cardiology (SIC)
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Ann Hepatol 2017 March-April;16(2):182-184. doi: 10.5604/16652681.1231550. PMID: 28233737
Yarbrough CK, Greenberg JK, Park TS
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Oakley C, Brunette DM
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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
De Stefano R, Bruno A, Muscatello MR, Cedro C, Cervino G, Fiorillo L
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Ning S, Li X
Adv Exp Med Biol 2018;1094:1-7. doi: 10.1007/978-981-13-0719-5_1. PMID: 30191482
Sosa-Reina MD, Nunez-Nagy S, Gallego-Izquierdo T, Pecos-Martín D, Monserrat J, Álvarez-Mon M
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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

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