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Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.
Am J Hum Genet. 2019 Jul 3;105(1):151-165. doi: 10.1016/j.ajhg.2019.05.016. Epub 2019 Jun 20.
Am J Hum Genet. 2019.
PMID: 31230722
Free PMC article.
Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.
Prattichizzo C, Macca M, Novelli V, Giorgio G, Barra A, Franco B; Oral-Facial-Digital Type I (OFDI) Collaborative Group.
Prattichizzo C, et al.
Hum Mutat. 2008 Oct;29(10):1237-46. doi: 10.1002/humu.20792.
Hum Mutat. 2008.
PMID: 18546297
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CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.
Del Giudice E, Macca M, Imperati F, D'Amico A, Parent P, Pasquier L, Layet V, Lyonnet S, Stamboul-Darmency V, Thauvin-Robinet C, Franco B; Oral-Facial-Digital Type I (OFD1) Collaborative Group.
Del Giudice E, et al.
Orphanet J Rare Dis. 2014 May 10;9:74. doi: 10.1186/1750-1172-9-74.
Orphanet J Rare Dis. 2014.
PMID: 24884629
Free PMC article.
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Recommendations for the predictive genetic test in Huntington's disease.
MacLeod R, Tibben A, Frontali M, Evers-Kiebooms G, Jones A, Martinez-Descales A, Roos RA; Editorial Committee and Working Group ‘Genetic Testing Counselling’ of the European Huntington Disease Network.
MacLeod R, et al.
Clin Genet. 2013 Mar;83(3):221-31. doi: 10.1111/j.1399-0004.2012.01900.x. Epub 2012 Jul 30.
Clin Genet. 2013.
PMID: 22642570
No abstract available.
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Validation of IRF5 as multiple sclerosis risk gene: putative role in interferon beta therapy and human herpes virus-6 infection.
Vandenbroeck K, Alloza I, Swaminathan B, Antigüedad A, Otaegui D, Olascoaga J, Barcina MG, de las Heras V, Bartolomé M, Fernández-Arquero M, Arroyo R, Alvarez-Lafuente R, Cénit MC, Urcelay E.
Vandenbroeck K, et al. Among authors: barcina mg.
Genes Immun. 2011 Jan;12(1):40-5. doi: 10.1038/gene.2010.46. Epub 2010 Sep 23.
Genes Immun. 2011.
PMID: 20861862
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Validation of the CD6 and TNFRSF1A loci as risk factors for multiple sclerosis in Spain.
Swaminathan B, Matesanz F, Cavanillas ML, Alloza I, Otaegui D, Olascoaga J, Cénit MC, de las Heras V, Barcina MG, Arroyo R, Alcina A, Fernandez O, Antigüedad A, Urcelay E, Vandenbroeck K.
Swaminathan B, et al. Among authors: barcina mg.
J Neuroimmunol. 2010 Jun;223(1-2):100-3. doi: 10.1016/j.jneuroim.2010.03.020. Epub 2010 Apr 28.
J Neuroimmunol. 2010.
PMID: 20430450
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Progression from idiopathic portal hypertension to incomplete septal cirrhosis with liver failure requiring liver transplantation.
Bernard PH, Le Bail B, Cransac M, Barcina MG, Carles J, Balabaud C, Bioulac-Sage P.
Bernard PH, et al. Among authors: barcina mg.
J Hepatol. 1995 Apr;22(4):495-9. doi: 10.1016/0168-8278(95)80115-4.
J Hepatol. 1995.
PMID: 7665869
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Liver-associated lymphocytes: role in tumor defense.
Winnock M, Barcina MG, Lukomska B, Bioulac-Sage P, Balabaud C.
Winnock M, et al. Among authors: barcina mg.
Semin Liver Dis. 1993 Feb;13(1):81-92. doi: 10.1055/s-2007-1007340.
Semin Liver Dis. 1993.
PMID: 8446910
Review.
No abstract available.
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