| 1 | COL4A1, HANAC
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| HANAC Col4a1 Mutation in Mice Leads to Skeletal Muscle Alterations due to a Primary Vascular Defect.
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| Guiraud S, Migeon T, Ferry A, Chen Z, Ouchelouche S, Verpont MC, Sado Y, Allamand V, Ronco P, Plaisier E.
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| Am J Pathol 187(3):505-516. doi: 10.1016/j.ajpath.2016.10.020. Epub 2017 Jan 3.
2017
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| 2 | COL4A1, HANAC
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| A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen.
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| Gale DP, Oygar DD, Lin F, Oygar PD, Khan N, Connor TM, Lapsley M, Maxwell PH, Neild GH.
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| Nephrol Dial Transplant 31(11):1908-1914. Epub 2016 Apr 8.
2016
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| 3 | COL4A1, HANAC
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| Porencephaly in a fetus and HANAC in her father: variable expression of COL4A1 mutation.
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| Takenouchi T, Ohyagi M, Torii C, Kosaki R, Takahashi T, Kosaki K.
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| Am J Med Genet A 167A(1):156-8. doi: 10.1002/ajmg.a.36823. Epub 2014 Nov 25.
2015
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| 4 | COL4A1, HANAC
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| Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome.
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| Alamowitch S, Plaisier E, Favrole P, Prost C, Chen Z, Van Agtmael T, Marro B, Ronco P.
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| Neurology 73(22):1873-82.PMID: 19949034 2009
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| 5 | COL4A1, HANAC
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| Hereditary angiopathy with nephropathy, aneurysms and muscle cramps (HANAC): a new basement membrane-disease associated with mutations of the COL4A1 gene
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| Ronco P, Plaisier E.
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| Bull Acad Natl Med 192(5):971-84; discussion 984-6. French.
2008
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| 6 | COL4A1, HANAC
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| Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis.
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| Gould DB, Marchant JK, Savinova OV, Smith RS, John SW.
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| Hum Mol Genet 16(7):798-807. Epub 2007 Feb 22.
2007
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| 7 | COL4A1, HANAC
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| COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.
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| Plaisier E, Gribouval O, Alamowitch S, Mougenot B, Prost C, Verpont MC, Marro B, Desmettre T, Cohen SY, Roullet E, Dracon M, Fardeau M, Van Agtmael T, Kerjaschki D, Antignac C, Ronco P.
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| N Engl J Med 357(26):2687-95.
2007
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| 8 | COL4A1, HANAC, PRCF
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| Clinical and brain MRI follow-up study of a family with COL4A1 mutation.
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| Vahedi K, Boukobza M, Massin P, Gould DB, Tournier-Lasserve E, Bousser MG.
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| Neurology 69(16):1564-8.
2007
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| 9 | COL4A1, HANAC, PRCF
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| COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.
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| Sibon I, Coupry I, Menegon P, Bouchet JP, Gorry P, Burgelin I, Calvas P, Orignac I, Dousset V, Lacombe D, Orgogozo JM, Arveiler B, Goizet C.
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| Ann Neurol 62(2):177-84.
2007
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| 10 | COL4A1, HANAC
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| Autosomal-dominant familial hematuria with retinal arteriolar tortuosity and contractures: a novel syndrome.
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| Plaisier E, Alamowitch S, Gribouval O, Mougenot B, Gaudric A, Antignac C, Roullet E, Ronco P.
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| Kidney Int 67(6):2354-60.
2005
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