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Results: 20

1.

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
[PubMed - indexed for MEDLINE]
2.

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.

PMID:
23065703
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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
[PubMed - indexed for MEDLINE]
4.

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.

PMID:
22574627
[PubMed - indexed for MEDLINE]
5.

COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage.

Weng YC, Sonni A, Labelle-Dumais C, de Leau M, Kauffman WB, Jeanne M, Biffi A, Greenberg SM, Rosand J, Gould DB.

Ann Neurol. 2012 Apr;71(4):470-7. doi: 10.1002/ana.22682.

PMID:
22522439
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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.

PMID:
22333902
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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.

PMID:
22209246
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

COL4A1 mutations associated with a characteristic pattern of intracranial calcification.

Livingston J, Doherty D, Orcesi S, Tonduti D, Piechiecchio A, La Piana R, Tournier-Lasserve E, Majumdar A, Tomkins S, Rice G, Kneen R, van der Knaap M, Crow Y.

Neuropediatrics. 2011 Dec;42(6):227-33. doi: 10.1055/s-0031-1295493. Epub 2011 Dec 1.

PMID:
22134833
[PubMed - indexed for MEDLINE]
9.

Fetal origin of brain damage in 2 infants with a COL4A1 mutation: fetal and neonatal MRI.

Vermeulen RJ, Peeters-Scholte C, Van Vugt JJ, Barkhof F, Rizzu P, van der Schoor SR, van der Knaap MS.

Neuropediatrics. 2011 Feb;42(1):1-3. doi: 10.1055/s-0031-1275343. Epub 2011 Apr 15. Erratum in: Neuropediatrics. 2011 Apr;42(2):e1. Van Vught, J J M G [corrected to Van Vugt, J J M].

PMID:
21500141
[PubMed - indexed for MEDLINE]
10.

Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly.

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.

Neurology. 2011 Mar 1;76(9):844-6. doi: 10.1212/WNL.0b013e31820e7751. No abstract available.

PMID:
21357838
[PubMed - indexed for MEDLINE]
11.

Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease.

Vahedi K, Alamowitch S.

Curr Opin Neurol. 2011 Feb;24(1):63-8. doi: 10.1097/WCO.0b013e32834232c6. Review.

PMID:
21157337
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review.

Lanfranconi S, Markus HS.

Stroke. 2010 Aug;41(8):e513-8. doi: 10.1161/STROKEAHA.110.581918. Epub 2010 Jun 17. Review.

PMID:
20558831
[PubMed - indexed for MEDLINE]
Free Article
14.

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
[PubMed - indexed for MEDLINE]
15.

Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome.

Alamowitch S, Plaisier E, Favrole P, Prost C, Chen Z, Van Agtmael T, Marro B, Ronco P.

Neurology. 2009 Dec 1;73(22):1873-82. doi: 10.1212/WNL.0b013e3181c3fd12.

PMID:
19949034
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly.

Shah S, Kumar Y, McLean B, Churchill A, Stoodley N, Rankin J, Rizzu P, van der Knaap M, Jardine P.

Eur J Paediatr Neurol. 2010 Mar;14(2):182-7. doi: 10.1016/j.ejpn.2009.04.010. Epub 2009 May 28.

PMID:
19477666
[PubMed - indexed for MEDLINE]
17.

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
[PubMed - indexed for MEDLINE]
18.

COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage.

Vahedi K, Kubis N, Boukobza M, Arnoult M, Massin P, Tournier-Lasserve E, Bousser MG.

Stroke. 2007 May;38(5):1461-4. Epub 2007 Mar 22.

PMID:
17379824
[PubMed - indexed for MEDLINE]
Free Article
19.

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.

PMID:
16107487
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

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.

PMID:
15905400
[PubMed - indexed for MEDLINE]
Free Article

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