| 1 | COL4A1, PRCF
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| Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly.
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| Yoneda Y, Haginoya K, Kato M, Osaka H, Yokochi K, Arai H, Kakita A, Yamamoto T, Otsuki Y, Shimizu S, Wada T, Koyama N, Mino Y, Kondo N, Takahashi S, Hirabayashi S, Takanashi J, Okumura A, Kumagai T, Hirai S, Nabetani M, Saitoh S, Hattori A, Yamasaki M, Kumakura A, Sugo Y, Nishiyama K, Miyatake S, Tsurusaki Y, Doi H, Miyake N, Matsumoto N, Saitsu H.
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| Ann Neurol 73(1):48-57. doi: 10.1002/ana.23736. Epub 2012 Dec 7.
2013
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| 2 | COL4A1, COL4A2, PRCF
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| De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen α2 Chain Cause Porencephaly.
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| Yoneda Y, Haginoya K, Arai H, Yamaoka S, Tsurusaki Y, Doi H, Miyake N, Yokochi K, Osaka H, Kato M, Matsumoto N, Saitsu H.
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| Am J Hum Genet 90(1):86-90. Epub 2011 Dec 29. 2012
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| 3 | COL4A2, PRCF
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| COL4A2 mutation associated with familial porencephaly and small-vessel disease.
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| Verbeek E, Meuwissen ME, Verheijen FW, Govaert PP, Licht DJ, Kuo DS, Poulton CJ, Schot R, Lequin MH, Dudink J, Halley DJ, de Coo RI, den Hollander JC, Oegema R, Gould DB, Mancini GM.
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| Eur J Hum Genet 20(8):844-51. doi: 10.1038/ejhg.2012.20. Epub 2012 Feb 15.
2012
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| 4 | COL4A1, PRCF
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| Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly.
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| Meuwissen ME, de Vries LS, Verbeek HA, Lequin MH, Govaert PP, Schot R, Cowan FM, Hennekam R, Rizzu P, Verheijen FW, Wessels MW, Mancini GM.
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| Neurology 76(9):844-6. No abstract available.
2011
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| 5 | COL4A1, PRCF
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| A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly.
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| Shah S, Kumar Y, McLean B, Churchill A, Stoodley N, Rankin J, Rizzu P, van der Knaap M, Jardine P.
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| Eur J Paediatr Neurol ur J Paediatr Neurol. 2009 May 28. [Epub ahead of print]
2009
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| 6 | 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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| 7 | 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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| 8 | COL4A1, PRCF
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| Role of COL4A1 in small-vessel disease and hemorrhagic stroke.
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| Gould DB, Phalan FC, van Mil SE, Sundberg JP, Vahedi K, Massin P, Bousser MG, Heutink P, Miner JH, Tournier-Lasserve E, John SW.
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| N Engl J Med 354(14):1489-96. 2006
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| 9 | COL4A1, PRCF
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| Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.
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| Breedveld G, de Coo IF, Lequin MH, Arts WF, Heutink P, Gould DB, John SW, Oostra B, Mancini GM.
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| J Med Genet 43(6):490-5. Epub 2005 Aug 17. 2006
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| 10 | COL4A1, PRCF
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| Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.
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| Gould DB, Phalan FC, Breedveld GJ, van Mil SE, Smith RS, Schimenti JC, Aguglia U, van der Knaap MS, Heutink P, John SW.
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| Science 308(5725):1167-71. 2005
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| 11 | PRCF
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| Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly.
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| Aguglia U, Gambardella A, Breedveld GJ, Oliveri RL, Le Piane E, Messina D, Quattrone A, Heutink P.
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| Neurology 62(9):1613-5. 2004
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