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Items: 15

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
2.

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.

Meuwissen ME, Halley DJ, Smit LS, Lequin MH, Cobben JM, de Coo R, van Harssel J, Sallevelt S, Woldringh G, van der Knaap MS, de Vries LS, Mancini GM.

Genet Med. 2015 Nov;17(11):843-53. doi: 10.1038/gim.2014.210. Epub 2015 Feb 26. Review.

PMID:
25719457
3.

COL4A1-Related Disorders.

Plaisier E, Ronco P.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2009 Jun 25 [updated 2016 Jul 7].

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
5.

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.

6.

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.

7.

Review: molecular genetics and pathology of hereditary small vessel diseases of the brain.

Yamamoto Y, Craggs L, Baumann M, Kalimo H, Kalaria RN.

Neuropathol Appl Neurobiol. 2011 Feb;37(1):94-113. doi: 10.1111/j.1365-2990.2010.01147.x. Review.

PMID:
21062344
8.

COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets.

Kuo DS, Labelle-Dumais C, Gould DB.

Hum Mol Genet. 2012 Oct 15;21(R1):R97-110. Epub 2012 Aug 21. Review.

9.

Genetics of anterior segment dysgenesis disorders.

Reis LM, Semina EV.

Curr Opin Ophthalmol. 2011 Sep;22(5):314-24. doi: 10.1097/ICU.0b013e328349412b. Review.

10.

Kidney diseases caused by glomerular basement membrane type IV collagen defects in dogs.

Lees GE.

J Vet Emerg Crit Care (San Antonio). 2013 Mar-Apr;23(2):184-93. doi: 10.1111/vec.12031. Epub 2013 Mar 6. Review.

PMID:
23464675
11.

Spectrum of collagen type IV nephropathies: from thin basement membrane nephropathy to Alport syndrome.

Vizjak A, Ferluga D.

Srp Arh Celok Lek. 2008 Dec;136 Suppl 4:323-6. Review.

12.
13.

Alport syndrome. A review of the ocular manifestations.

Colville DJ, Savige J.

Ophthalmic Genet. 1997 Dec;18(4):161-73. Review.

PMID:
9457747
14.

Type IV Collagens and Basement Membrane Diseases: Cell Biology and Pathogenic Mechanisms.

Mao M, Alavi MV, Labelle-Dumais C, Gould DB.

Curr Top Membr. 2015;76:61-116. doi: 10.1016/bs.ctm.2015.09.002. Epub 2015 Oct 20. Review.

PMID:
26610912
15.

Monogenic causes of stroke: now and the future.

Tan RY, Markus HS.

J Neurol. 2015 Dec;262(12):2601-16. doi: 10.1007/s00415-015-7794-4. Epub 2015 Jun 3. Review.

PMID:
26037017

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