PubMed (Bookshelf cited) for id: 382033

Year	Number of Results
1996	1
1997	1
2001	1
2005	2
2006	3
2007	4
2009	2
2010	3
2011	3
2012	5
2013	3
2014	5
2015	3
2016	1
2024	0

1

A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen.

Gale DP, Oygar DD, Lin F, Oygar PD, Khan N, Connor TM, Lapsley M, Maxwell PH, Neild GH. Gale DP, et al. Nephrol Dial Transplant. 2016 Nov;31(11):1908-1914. doi: 10.1093/ndt/gfw051. Epub 2016 Apr 8. Nephrol Dial Transplant. 2016. PMID: 27190376 Free PMC article.

2

COL4A1 gene mutation--beyond a vascular syndrome.

John S, Jehi L, Manno EM, Conway DS, Uchino K. John S, et al. Seizure. 2015 Sep;31:19-21. doi: 10.1016/j.seizure.2015.06.014. Epub 2015 Jul 4. Seizure. 2015. PMID: 26362372 Free article. No abstract available.

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

Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.

Ayrignac X, Carra-Dalliere C, Menjot de Champfleur N, Denier C, Aubourg P, Bellesme C, Castelnovo G, Pelletier J, Audoin B, Kaphan E, de Seze J, Collongues N, Blanc F, Chanson JB, Magnin E, Berger E, Vukusic S, Durand-Dubief F, Camdessanche JP, Cohen M, Lebrun-Frenay C, Brassat D, Clanet M, Vermersch P, Zephir H, Outteryck O, Wiertlewski S, Laplaud DA, Ouallet JC, Brochet B, Goizet C, Debouverie M, Pittion S, Edan G, Deburghgraeve V, Le Page E, Verny C, Amati-Bonneau P, Bonneau D, Hannequin D, Guyant-Maréchal L, Derache N, Defer GL, Moreau T, Giroud M, Guennoc AM, Clavelou P, Taithe F, Mathis S, Neau JP, Magy L, Devoize JL, Bataillard M, Masliah-Planchon J, Dorboz I, Tournier-Lasserve E, Levade T, Boespflug Tanguy O, Labauge P. Ayrignac X, et al. Brain. 2015 Feb;138(Pt 2):284-92. doi: 10.1093/brain/awu353. Epub 2014 Dec 19. Brain. 2015. PMID: 25527826

5

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

6

A novel COL4A1 gene mutation results in autosomal dominant non-syndromic congenital cataract in a Chinese family.

Xia XY, Li N, Cao X, Wu QY, Li TF, Zhang C, Li WW, Cui YX, Li XJ, Xue CY. Xia XY, et al. BMC Med Genet. 2014 Aug 15;15:97. doi: 10.1186/s12881-014-0097-2. BMC Med Genet. 2014. PMID: 25124159 Free PMC article.

7

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. Gunda B, et al. J Neurol. 2014 Mar;261(3):500-3. doi: 10.1007/s00415-013-7224-4. Epub 2014 Jan 5. J Neurol. 2014. PMID: 24390199

8

Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.

Chassaing N, Causse A, Vigouroux A, Delahaye A, Alessandri JL, Boespflug-Tanguy O, Boute-Benejean O, Dollfus H, Duban-Bedu B, Gilbert-Dussardier B, Giuliano F, Gonzales M, Holder-Espinasse M, Isidor B, Jacquemont ML, Lacombe D, Martin-Coignard D, Mathieu-Dramard M, Odent S, Picone O, Pinson L, Quelin C, Sigaudy S, Toutain A, Thauvin-Robinet C, Kaplan J, Calvas P. Chassaing N, et al. Clin Genet. 2014 Oct;86(4):326-34. doi: 10.1111/cge.12275. Epub 2013 Oct 7. Clin Genet. 2014. PMID: 24033328

9

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. Rødahl E, et al. Am J Ophthalmol. 2013 May;155(5):946-53. doi: 10.1016/j.ajo.2012.11.028. Epub 2013 Feb 6. Am J Ophthalmol. 2013. PMID: 23394911

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. Yoneda Y, et al. Ann Neurol. 2013 Jan;73(1):48-57. doi: 10.1002/ana.23736. Epub 2012 Dec 7. Ann Neurol. 2013. PMID: 23225343

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