Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 95

1.

DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome.

International Alport Mutation Consortium, Savige J, Ars E, Cotton RG, Crockett D, Dagher H, Deltas C, Ding J, Flinter F, Pont-Kingdon G, Smaoui N, Torra R, Storey H.

Pediatr Nephrol. 2014 Jun;29(6):971-7. doi: 10.1007/s00467-013-2486-8. Epub 2013 May 30. Review.

PMID:
23720012
2.

X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.

Savige J, Storey H, Il Cheong H, Gyung Kang H, Park E, Hilbert P, Persikov A, Torres-Fernandez C, Ars E, Torra R, Hertz JM, Thomassen M, Shagam L, Wang D, Wang Y, Flinter F, Nagel M.

PLoS One. 2016 Sep 14;11(9):e0161802. doi: 10.1371/journal.pone.0161802. eCollection 2016.

3.

The Alport syndrome COL4A5 variant database.

Crockett DK, Pont-Kingdon G, Gedge F, Sumner K, Seamons R, Lyon E.

Hum Mutat. 2010 Aug;31(8):E1652-7. doi: 10.1002/humu.21312.

PMID:
20574986
4.

Effect of heterozygous pathogenic COL4A3 or COL4A4 variants on patients with X-linked Alport syndrome.

Zhang Y, Ding J, Zhang H, Yao Y, Xiao H, Wang S, Wang F.

Mol Genet Genomic Med. 2019 May;7(5):e647. doi: 10.1002/mgg3.647. Epub 2019 Mar 18.

5.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

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

PMID:
19728970
6.

Functional assessment of a novel COL4A5 splice region variant and immunostaining of plucked hair follicles as an alternative method of diagnosis in X-linked Alport syndrome.

Malone AF, Funk SD, Alhamad T, Miner JH.

Pediatr Nephrol. 2017 Jun;32(6):997-1003. doi: 10.1007/s00467-016-3565-4. Epub 2016 Dec 24.

7.

X-Linked Glomerulopathy Due to COL4A5 Founder Variant.

Barua M, John R, Stella L, Li W, Roslin NM, Sharif B, Hack S, Lajoie-Starkell G, Schwaderer AL, Becknell B, Wuttke M, Köttgen A, Cattran D, Paterson AD, Pei Y.

Am J Kidney Dis. 2018 Mar;71(3):441-445. doi: 10.1053/j.ajkd.2017.09.005. Epub 2017 Dec 1. Review.

PMID:
29198386
8.

Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts.

Wang F, Wang Y, Ding J, Yang J.

Kidney Int. 2005 Apr;67(4):1268-74.

9.

A large tandem duplication within the COL4A5 gene is responsible for the high prevalence of Alport syndrome in French Polynesia.

Arrondel C, Deschênes G, Le Meur Y, Viau A, Cordonnier C, Fournier A, Amadeo S, Gubler MC, Antignac C, Heidet L.

Kidney Int. 2004 Jun;65(6):2030-40.

10.

Somatic mosaicism for a mutation of the COL4A5 gene is a cause of mild phenotype male Alport syndrome.

Krol RP, Nozu K, Nakanishi K, Iijima K, Takeshima Y, Fu XJ, Nozu Y, Kaito H, Kanda K, Matsuo M, Yoshikawa N.

Nephrol Dial Transplant. 2008 Aug;23(8):2525-30. doi: 10.1093/ndt/gfn005. Epub 2008 Mar 10.

PMID:
18332068
11.

X-linked Alport syndrome caused by splicing mutations in COL4A5.

Nozu K, Vorechovsky I, Kaito H, Fu XJ, Nakanishi K, Hashimura Y, Hashimoto F, Kamei K, Ito S, Kaku Y, Imasawa T, Ushijima K, Shimizu J, Makita Y, Konomoto T, Yoshikawa N, Iijima K.

Clin J Am Soc Nephrol. 2014 Nov 7;9(11):1958-64. doi: 10.2215/CJN.04140414. Epub 2014 Sep 2.

12.

Improved genetic counseling in Alport syndrome by new variants of COL4A5 gene.

Fernandez-Rosado F, Campos A, Alvarez-Cubero MJ, Ruiz A, Entrala-Bernal C.

Nephrology (Carlton). 2015 Jul;20(7):502-5. doi: 10.1111/nep.12486.

PMID:
26063487
13.

Female X-linked Alport syndrome with somatic mosaicism.

Yokota K, Nozu K, Minamikawa S, Yamamura T, Nakanishi K, Kaneda H, Hamada R, Nozu Y, Shono A, Ninchoji T, Morisada N, Ishimori S, Fujimura J, Horinouchi T, Kaito H, Nakanishi K, Morioka I, Taniguchi-Ikeda M, Iijima K.

Clin Exp Nephrol. 2017 Oct;21(5):877-883. doi: 10.1007/s10157-016-1352-y. Epub 2016 Oct 31.

PMID:
27796712
14.

A Novel Mutation in a Kazakh Family with X-Linked Alport Syndrome.

Baikara BT, Zholdybayeva EV, Rakhimova SE, Nigmatullina NB, Momynaliev KT, Ramanculov YM.

PLoS One. 2015 Jul 13;10(7):e0132010. doi: 10.1371/journal.pone.0132010. eCollection 2015.

15.

X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation alters the splicing donor site of the type IV collagen alpha chain 5 gene.

Fu XJ, Nozu K, Eguchi A, Nozu Y, Morisada N, Shono A, Taniguchi-Ikeda M, Shima Y, Nakanishi K, Vorechovsky I, Iijima K.

Clin Exp Nephrol. 2016 Oct;20(5):699-702. Epub 2015 Nov 18.

PMID:
26581810
16.

Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.

Hertz JM, Juncker I, Persson U, Matthijs G, Schmidtke J, Petersen MB, Kjeldsen M, Gregersen N.

Hum Mutat. 2001 Aug;18(2):141-8.

PMID:
11462238
17.

Collagen type IV-related nephropathies in Portugal: pathogenic COL4A5 mutations and clinical characterization of 22 families.

Nabais Sá MJ, Sampaio S, Oliveira A, Alves S, Moura CP, Silva SE, Castro R, Araújo JA, Rodrigues M, Neves F, Seabra J, Soares C, Gaspar MA, Tavares I, Freitas L, Sousa TC, Henriques AC, Costa FT, Morgado E, Sousa FT, Sousa JP, da Costa AG, Filipe R, Garrido J, Montalban J, Ponce P, Alves R, Faria B, Carvalho MF, Pestana M, Carvalho F, Oliveira JP.

Clin Genet. 2015 Nov;88(5):462-7. doi: 10.1111/cge.12522. Epub 2014 Nov 10.

PMID:
25307721
18.

Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome.

Renieri A, Galli L, Grillo A, Bruttini M, Neri T, Zanelli P, Rizzoni G, Massella L, Sessa A, Meroni M, Peratoner L, Riegler P, Scolari F, Mileti M, Giani M, Cossu M, Savi M, Ballabio A, De Marchi M.

Am J Med Genet. 1995 Nov 20;59(3):380-5.

PMID:
8599366
19.

MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome.

Hertz JM, Juncker I, Marcussen N.

Clin Genet. 2008 Dec;74(6):522-30. doi: 10.1111/j.1399-0004.2008.01051.x. Epub 2008 Jun 26.

PMID:
18616531
20.

Genetic testing for X-linked Alport syndrome by direct sequencing of COL4A5 cDNA from hair root RNA samples.

Tazón-Vega B, Ars E, Burset M, Santín S, Ruíz P, Fernández-Llama P, Ballarín J, Torra R.

Am J Kidney Dis. 2007 Aug;50(2):257.e1-14.

PMID:
17660027

Supplemental Content

Support Center