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Items: 1 to 20 of 160

1.

Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.

Breedveld G, de Coo IF, Lequin MH, Arts WF, Heutink P, Gould DB, John SW, Oostra B, Mancini GM.

J Med Genet. 2006 Jun;43(6):490-5. Epub 2005 Aug 17.

2.

Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.

Gould DB, Phalan FC, Breedveld GJ, van Mil SE, Smith RS, Schimenti JC, Aguglia U, van der Knaap MS, Heutink P, John SW.

Science. 2005 May 20;308(5725):1167-71.

3.

Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain.

Plaisier E, Chen Z, Gekeler F, Benhassine S, Dahan K, Marro B, Alamowitch S, Paques M, Ronco P.

Am J Med Genet A. 2010 Oct;152A(10):2550-5. doi: 10.1002/ajmg.a.33659.

PMID:
20818663
4.

COL4A2 mutation associated with familial porencephaly and small-vessel disease.

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.

Eur J Hum Genet. 2012 Aug;20(8):844-51. doi: 10.1038/ejhg.2012.20. Epub 2012 Feb 15.

5.

Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly.

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.

Ann Neurol. 2013 Jan;73(1):48-57. doi: 10.1002/ana.23736. Epub 2012 Dec 7.

PMID:
23225343
6.

COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.

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.

Ann Neurol. 2007 Aug;62(2):177-84.

PMID:
17696175
7.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
8.

Role of COL4A1 in basement-membrane integrity and cerebral small-vessel disease. The COL4A1 stroke syndrome.

Volonghi I, Pezzini A, Del Zotto E, Giossi A, Costa P, Ferrari D, Padovani A.

Curr Med Chem. 2010;17(13):1317-24. Review.

PMID:
20166936
9.

De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly.

Yoneda Y, Haginoya K, Arai H, Yamaoka S, Tsurusaki Y, Doi H, Miyake N, Yokochi K, Osaka H, Kato M, Matsumoto N, Saitsu H.

Am J Hum Genet. 2012 Jan 13;90(1):86-90. doi: 10.1016/j.ajhg.2011.11.016. Epub 2011 Dec 29.

10.

A new family with autosomal dominant porencephaly with a novel Col4A1 mutation. Are arachnoid cysts related to Col4A1 mutations?

Değerliyurt A, Ceylaner G, Koçak H, Bilginer Gürbüz B, Cihan BS, Rizzu P, Ceylaner S.

Genet Couns. 2012;23(2):185-93.

PMID:
22876576
11.

Do mutations in COL4A1 or COL4A2 cause thin basement membrane nephropathy (TBMN)?

Zhang KW, Tonna S, Wang YY, Rana K, Padavarat S, Savige J.

Pediatr Nephrol. 2007 May;22(5):645-51. Epub 2007 Jan 10.

PMID:
17216253
12.

COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage.

de Vries LS, Koopman C, Groenendaal F, Van Schooneveld M, Verheijen FW, Verbeek E, Witkamp TD, van der Worp HB, Mancini G.

Ann Neurol. 2009 Jan;65(1):12-8. doi: 10.1002/ana.21525.

PMID:
19194877
13.

Neonatal porencephaly and adult stroke related to mutations in collagen IV A1.

van der Knaap MS, Smit LM, Barkhof F, Pijnenburg YA, Zweegman S, Niessen HW, Imhof S, Heutink P.

Ann Neurol. 2006 Mar;59(3):504-11.

PMID:
16374828
14.

Clinical and brain MRI follow-up study of a family with COL4A1 mutation.

Vahedi K, Boukobza M, Massin P, Gould DB, Tournier-Lasserve E, Bousser MG.

Neurology. 2007 Oct 16;69(16):1564-8.

PMID:
17938367
15.
16.

Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency.

Lemmens R, Maugeri A, Niessen HW, Goris A, Tousseyn T, Demaerel P, Corveleyn A, Robberecht W, van der Knaap MS, Thijs VN, Zwijnenburg PJ.

Hum Mol Genet. 2013 Jan 15;22(2):391-7. doi: 10.1093/hmg/dds436. Epub 2012 Oct 12.

17.

Two families with novel missense mutations in COL4A1: When diagnosis can be missed.

Giorgio E, Vaula G, Bosco G, Giacone S, Mancini C, Calcia A, Cavalieri S, Di Gregorio E, Rigault De Longrais R, Leombruni S, Pinessi L, Cerrato P, Brusco A, Brussino A.

J Neurol Sci. 2015 May 15;352(1-2):99-104. doi: 10.1016/j.jns.2015.03.042. Epub 2015 Apr 7.

PMID:
25873210
18.

Childhood presentation of COL4A1 mutations.

Shah S, Ellard S, Kneen R, Lim M, Osborne N, Rankin J, Stoodley N, van der Knaap M, Whitney A, Jardine P.

Dev Med Child Neurol. 2012 Jun;54(6):569-74. doi: 10.1111/j.1469-8749.2011.04198.x. Epub 2012 Jan 16. Review.

19.

Autosomal recessive Alport's syndrome and benign familial hematuria are collagen type IV diseases.

Tazón Vega B, Badenas C, Ars E, Lens X, Milà M, Darnell A, Torra R.

Am J Kidney Dis. 2003 Nov;42(5):952-9.

PMID:
14582039
20.

Porencephaly in a fetus and HANAC in her father: variable expression of COL4A1 mutation.

Takenouchi T, Ohyagi M, Torii C, Kosaki R, Takahashi T, Kosaki K.

Am J Med Genet A. 2015 Jan;167A(1):156-8. doi: 10.1002/ajmg.a.36823. Epub 2014 Nov 25.

PMID:
25425218

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