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Results: 1 to 20 of 113

1.

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
2.

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
3.

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
4.

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]
5.

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
6.

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]
7.

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
8.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

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

PMID:
19728970
[PubMed - indexed for MEDLINE]
9.

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
10.

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
11.

Drosophila basement membrane collagen col4a1 mutations cause severe myopathy.

Kelemen-Valkony I, Kiss M, Csiha J, Kiss A, Bircher U, Szidonya J, Maróy P, Juhász G, Komonyi O, Csiszár K, Mink M.

Matrix Biol. 2012 Jan;31(1):29-37. doi: 10.1016/j.matbio.2011.09.004. Epub 2011 Oct 18.

PMID:
22037604
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

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]
14.

Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS.

Konno T, Tada M, Tada M, Koyama A, Nozaki H, Harigaya Y, Nishimiya J, Matsunaga A, Yoshikura N, Ishihara K, Arakawa M, Isami A, Okazaki K, Yokoo H, Itoh K, Yoneda M, Kawamura M, Inuzuka T, Takahashi H, Nishizawa M, Onodera O, Kakita A, Ikeuchi T.

Neurology. 2014 Jan 14;82(2):139-48. doi: 10.1212/WNL.0000000000000046. Epub 2013 Dec 13.

PMID:
24336230
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

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
[PubMed - indexed for MEDLINE]
16.

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
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.

Hereditary cerebral small vessel diseases: a review.

Federico A, Di Donato I, Bianchi S, Di Palma C, Taglia I, Dotti MT.

J Neurol Sci. 2012 Nov 15;322(1-2):25-30. doi: 10.1016/j.jns.2012.07.041. Epub 2012 Aug 4. Review.

PMID:
22868088
[PubMed - indexed for MEDLINE]
19.

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]
20.

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]

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