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Results: 1 to 20 of 105

1.

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]
2.

[Hereditary angiopathy with nephropathy, aneurysms and muscle cramps (HANAC): a new basement membrane-disease associated with mutations of the COL4A1 gene].

Ronco P, Plaisier E.

Bull Acad Natl Med. 2008 May;192(5):971-84; discussion 984-6. French.

PMID:
19238787
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
4.

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
5.

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
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.

COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.

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.

N Engl J Med. 2007 Dec 27;357(26):2687-95.

PMID:
18160688
[PubMed - indexed for MEDLINE]
Free Article
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
[PubMed - indexed for MEDLINE]
9.

COL4A1-Related Disorders.

Plaisier E, Ronco P.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2009 Jun 25 [updated 2011 Mar 08].

10.

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]
11.

COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy.

Gunda B, Mine M, Kovács T, Hornyák C, Bereczki D, Várallyay G, Rudas G, Audrezet MP, Tournier-Lasserve E.

J Neurol. 2014 Mar;261(3):500-3. doi: 10.1007/s00415-013-7224-4. Epub 2014 Jan 5.

PMID:
24390199
[PubMed - indexed for MEDLINE]
12.

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
13.

Role of COL4A1 in small-vessel disease and hemorrhagic stroke.

Gould DB, Phalan FC, van Mil SE, Sundberg JP, Vahedi K, Massin P, Bousser MG, Heutink P, Miner JH, Tournier-Lasserve E, John SW.

N Engl J Med. 2006 Apr 6;354(14):1489-96.

PMID:
16598045
[PubMed - indexed for MEDLINE]
Free Article
14.

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
15.

Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis.

Gould DB, Marchant JK, Savinova OV, Smith RS, John SW.

Hum Mol Genet. 2007 Apr 1;16(7):798-807. Epub 2007 Feb 22.

PMID:
17317786
[PubMed - indexed for MEDLINE]
Free Article
16.

Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation.

Rødahl E, Knappskog PM, Majewski J, Johansson S, Telstad W, Kråkenes J, Boman H.

Am J Ophthalmol. 2013 May;155(5):946-53. doi: 10.1016/j.ajo.2012.11.028. Epub 2013 Feb 6.

PMID:
23394911
[PubMed - indexed for MEDLINE]
17.

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]
18.

Fetal intracerebral hemorrhage and cataract: think COL4A1.

Colin E, Sentilhes L, Sarfati A, Mine M, Guichet A, Ploton C, Boussion F, Delorme B, Tournier-Lasserve E, Bonneau D.

J Perinatol. 2014 Jan;34(1):75-7. doi: 10.1038/jp.2013.135.

PMID:
24374867
[PubMed - indexed for MEDLINE]
19.

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
[PubMed - indexed for MEDLINE]
20.

Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy.

Van Agtmael T, Schlötzer-Schrehardt U, McKie L, Brownstein DG, Lee AW, Cross SH, Sado Y, Mullins JJ, Pöschl E, Jackson IJ.

Hum Mol Genet. 2005 Nov 1;14(21):3161-8. Epub 2005 Sep 13.

PMID:
16159887
[PubMed - indexed for MEDLINE]
Free Article

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