PubMed (OMIM) for id: 1284

Year	Number of Results
1987	3
1988	2
1995	2
2004	1
2006	1
2007	1
2011	2
2012	3
2013	1
2014	1
2015	1
2018	2
2024	0

1

Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease.

Zagaglia S, Selch C, Nisevic JR, Mei D, Michalak Z, Hernandez-Hernandez L, Krithika S, Vezyroglou K, Varadkar SM, Pepler A, Biskup S, Leão M, Gärtner J, Merkenschlager A, Jaksch M, Møller RS, Gardella E, Kristiansen BS, Hansen LK, Vari MS, Helbig KL, Desai S, Smith-Hicks CL, Hino-Fukuyo N, Talvik T, Laugesaar R, Ilves P, Õunap K, Körber I, Hartlieb T, Kudernatsch M, Winkler P, Schimmel M, Hasse A, Knuf M, Heinemeyer J, Makowski C, Ghedia S, Subramanian GM, Striano P, Thomas RH, Micallef C, Thom M, Werring DJ, Kluger GJ, Cross JH, Guerrini R, Balestrini S, Sisodiya SM. Zagaglia S, et al. Neurology. 2018 Nov 27;91(22):e2078-e2088. doi: 10.1212/WNL.0000000000006567. Epub 2018 Nov 9. Neurology. 2018. PMID: 30413629 Free PMC article.

2

Further refinement of COL4A1 and COL4A2 related cortical malformations.

Cavallin M, Mine M, Philbert M, Boddaert N, Lepage JM, Coste T, Lopez-Gonzalez V, Sanchez-Soler MJ, Ballesta-Martínez MJ, Remerand G, Pasquier L, Guët A, Chelly J, Lascelles K, Prieto-Morin C, Kossorotoff M, Tournier Lasserve E, Bahi-Buisson N. Cavallin M, et al. Eur J Med Genet. 2018 Dec;61(12):765-772. doi: 10.1016/j.ejmg.2018.10.004. Epub 2018 Oct 11. Eur J Med Genet. 2018. PMID: 30315939

3

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. Meuwissen ME, et al. Genet Med. 2015 Nov;17(11):843-53. doi: 10.1038/gim.2014.210. Epub 2015 Feb 26. Genet Med. 2015. PMID: 25719457 Free article. Review.

4

Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations.

Kuo DS, Labelle-Dumais C, Mao M, Jeanne M, Kauffman WB, Allen J, Favor J, Gould DB. Kuo DS, et al. Hum Mol Genet. 2014 Apr 1;23(7):1709-22. doi: 10.1093/hmg/ddt560. Epub 2013 Nov 7. Hum Mol Genet. 2014. PMID: 24203695 Free PMC article.

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. Weng YC, et al. Ann Neurol. 2012 Apr;71(4):470-7. doi: 10.1002/ana.22682. Ann Neurol. 2012. PMID: 22522439 Free PMC article.

6

COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.

Jeanne M, Labelle-Dumais C, Jorgensen J, Kauffman WB, Mancini GM, Favor J, Valant V, Greenberg SM, Rosand J, Gould DB. Jeanne M, et al. Am J Hum Genet. 2012 Jan 13;90(1):91-101. doi: 10.1016/j.ajhg.2011.11.022. Epub 2011 Dec 29. Am J Hum Genet. 2012. PMID: 22209247 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. Yoneda Y, et al. Am J Hum Genet. 2012 Jan 13;90(1):86-90. doi: 10.1016/j.ajhg.2011.11.016. Epub 2011 Dec 29. Am J Hum Genet. 2012. PMID: 22209246 Free PMC article.

8

Type IV procollagen missense mutations associated with defects of the eye, vascular stability, the brain, kidney function and embryonic or postnatal viability in the mouse, Mus musculus: an extension of the Col4a1 allelic series and the identification of the first two Col4a2 mutant alleles.

Favor J, Gloeckner CJ, Janik D, Klempt M, Neuhäuser-Klaus A, Pretsch W, Schmahl W, Quintanilla-Fend L. Favor J, et al. Genetics. 2007 Feb;175(2):725-36. doi: 10.1534/genetics.106.064733. Epub 2006 Dec 18. Genetics. 2007. PMID: 17179069 Free PMC article.

9

DD genotype of ACE gene is a risk factor for intracerebral hemorrhage.

Slowik A, Turaj W, Dziedzic T, Haefele A, Pera J, Malecki MT, Glodzik-Sobanska L, Szermer P, Figlewicz DA, Szczudlik A. Slowik A, et al. Neurology. 2004 Jul 27;63(2):359-61. doi: 10.1212/01.wnl.0000130200.12993.0c. Neurology. 2004. PMID: 15277638

10

Identification and characterization of a novel transcriptional silencer in the human collagen type IV gene COL4A2.

Haniel A, Welge-Lüssen U, Kühn K, Pöschl E. Haniel A, et al. J Biol Chem. 1995 May 12;270(19):11209-15. doi: 10.1074/jbc.270.19.11209. J Biol Chem. 1995. PMID: 7744753 Free article.

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