PubMed (OMIM) for id: 1282

Year	Number of Results
1958	1
1968	1
1977	2
1980	1
1981	1
1983	1
1984	3
1985	4
1986	6
1987	2
1988	6
1990	1
1995	1
1998	1
2000	1
2001	1
2002	1
2003	1
2004	4
2005	5
2006	4
2007	5
2008	2
2009	4
2010	4
2011	1
2012	5
2013	4
2014	3
2015	3
2016	2
2017	2
2018	1
2021	1
2024	0

1

Identification of fibronectin 1 as a candidate genetic modifier in a Col4a1 mutant mouse model of Gould syndrome.

Mao M, Popli T, Jeanne M, Hoff K, Sen S, Gould DB. Mao M, et al. Dis Model Mech. 2021 Apr 1;14(4):dmm048231. doi: 10.1242/dmm.048231. Epub 2021 Apr 26. Dis Model Mech. 2021. PMID: 34424299 Free PMC article.

2

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.

3

Multi-infarct dementia of Swedish type is caused by a 3'UTR mutation of COL4A1.

Siitonen M, Börjesson-Hanson A, Pöyhönen M, Ora A, Pasanen P, Bras J, Kern S, Kern J, Andersen O, Stanescu H, Kleta R, Baumann M, Kalaria R, Kalimo H, Singleton A, Hardy J, Viitanen M, Myllykangas L, Guerreiro R. Siitonen M, et al. Brain. 2017 May 1;140(5):e29. doi: 10.1093/brain/awx062. Brain. 2017. PMID: 28369186 Free PMC article. No abstract available.

4

A severe pulmonary complication in a patient with COL4A1-related disorder: A case report.

Abe Y, Matsuduka A, Okanari K, Miyahara H, Kato M, Miyatake S, Saitsu H, Matsumoto N, Tomoki M, Ihara K. Abe Y, et al. Eur J Med Genet. 2017 Mar;60(3):169-171. doi: 10.1016/j.ejmg.2016.12.008. Epub 2016 Dec 23. Eur J Med Genet. 2017. PMID: 28017902

5

Disruption of a miR-29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy.

Verdura E, Hervé D, Bergametti F, Jacquet C, Morvan T, Prieto-Morin C, Mackowiak A, Manchon E, Hosseini H, Cordonnier C, Girard-Buttaz I, Rosenstingl S, Hagel C, Kuhlenbaümer G, Leca-Radu E, Goux D, Fleming L, Van Agtmael T, Chabriat H, Chapon F, Tournier-Lasserve E. Verdura E, et al. Ann Neurol. 2016 Nov;80(5):741-753. doi: 10.1002/ana.24782. Epub 2016 Oct 19. Ann Neurol. 2016. PMID: 27666438

6

Intracranial sonographic features demonstrating in utero development of hemorrhagic brain damage leading to schizencephaly-associated COL4A1 mutation.

Matsumoto T, Miyakoshi K, Fukutake M, Ochiai D, Minegishi K, Tanaka M. Matsumoto T, et al. J Med Ultrason (2001). 2015 Jul;42(3):445-6. doi: 10.1007/s10396-015-0610-z. Epub 2015 Jan 18. J Med Ultrason (2001). 2015. PMID: 26576802 No abstract available.

7

Strain-Dependent Anterior Segment Dysgenesis and Progression to Glaucoma in Col4a1 Mutant Mice.

Mao M, Smith RS, Alavi MV, Marchant JK, Cosma M, Libby RT, John SW, Gould DB. Mao M, et al. Invest Ophthalmol Vis Sci. 2015 Oct;56(11):6823-31. doi: 10.1167/iovs.15-17527. Invest Ophthalmol Vis Sci. 2015. PMID: 26567795 Free PMC article.

8

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.

9

Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity.

Zenteno JC, Crespí J, Buentello-Volante B, Buil JA, Bassaganyas F, Vela-Segarra JI, Diaz-Cascajosa J, Marieges MT. Zenteno JC, et al. Graefes Arch Clin Exp Ophthalmol. 2014 Nov;252(11):1789-94. doi: 10.1007/s00417-014-2800-6. Epub 2014 Sep 17. Graefes Arch Clin Exp Ophthalmol. 2014. PMID: 25228067

10

Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia.

Deml B, Reis LM, Maheshwari M, Griffis C, Bick D, Semina EV. Deml B, et al. Clin Genet. 2014 Nov;86(5):475-81. doi: 10.1111/cge.12379. Epub 2014 Apr 12. Clin Genet. 2014. PMID: 24628545 Free PMC article.

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