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Items: 1 to 20 of 137

1.

A novel COL4A3 mutation causes autosomal-recessive Alport syndrome in a large Turkish family.

Uzak AS, Tokgoz B, Dundar M, Tekin M.

Genet Test Mol Biomarkers. 2013 Mar;17(3):260-4. doi: 10.1089/gtmb.2012.0340. Epub 2013 Jan 8.

2.

COL4A4-related nephropathy caused by a novel mutation in a large consanguineous Saudi family.

Ramzan K, Imtiaz F, Taibah K, Alnufiee S, Akhtar M, Al-Hazzaa SA, Al-Owain M.

Int J Pediatr Otorhinolaryngol. 2014 Mar;78(3):427-32. doi: 10.1016/j.ijporl.2013.12.008. Epub 2013 Dec 18.

PMID:
24398087
3.

COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.

Longo I, Porcedda P, Mari F, Giachino D, Meloni I, Deplano C, Brusco A, Bosio M, Massella L, Lavoratti G, Roccatello D, Frascá G, Mazzucco G, Muda AO, Conti M, Fasciolo F, Arrondel C, Heidet L, Renieri A, De Marchi M.

Kidney Int. 2002 Jun;61(6):1947-56.

4.

Genotype-phenotype correlations in 17 Chinese patients with autosomal recessive Alport syndrome.

Zhang Y, Wang F, Ding J, Zhang H, Zhao D, Yu L, Xiao H, Yao Y, Zhong X, Wang S.

Am J Med Genet A. 2012 Sep;158A(9):2188-93. doi: 10.1002/ajmg.a.35528. Epub 2012 Aug 6.

PMID:
22887978
5.

COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.

Storey H, Savige J, Sivakumar V, Abbs S, Flinter FA.

J Am Soc Nephrol. 2013 Dec;24(12):1945-54. doi: 10.1681/ASN.2012100985. Epub 2013 Sep 19.

6.

A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population.

Webb BD, Brandt T, Liu L, Jalas C, Liao J, Fedick A, Linderman MD, Diaz GA, Kornreich R, Trachtman H, Mehta L, Edelmann L.

Clin Genet. 2014 Aug;86(2):155-60. doi: 10.1111/cge.12247. Epub 2013 Sep 2.

PMID:
23927549
7.

Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene.

Pescucci C, Mari F, Longo I, Vogiatzi P, Caselli R, Scala E, Abaterusso C, Gusmano R, Seri M, Miglietti N, Bresin E, Renieri A.

Kidney Int. 2004 May;65(5):1598-603.

8.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

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

PMID:
19728970
9.

A novel mutation of COL4A3 presents a different contribution to Alport syndrome and thin basement membrane nephropathy.

Hou P, Chen Y, Ding J, Li G, Zhang H.

Am J Nephrol. 2007;27(5):538-44. Epub 2007 Aug 24.

PMID:
17726307
10.

Autosomal recessive Alport's syndrome and benign familial hematuria are collagen type IV diseases.

Tazón Vega B, Badenas C, Ars E, Lens X, Milà M, Darnell A, Torra R.

Am J Kidney Dis. 2003 Nov;42(5):952-9.

PMID:
14582039
11.

Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome.

Liu JH, Wei XX, Li A, Cui YX, Xia XY, Qin WS, Zhang MC, Gao EZ, Sun J, Gao CL, Liu FX, Wu QY, Li WW, Asan, Liu ZH, Li XJ.

PLoS One. 2017 May 18;12(5):e0177685. doi: 10.1371/journal.pone.0177685. eCollection 2017.

12.

Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.

Longo I, Scala E, Mari F, Caselli R, Pescucci C, Mencarelli MA, Speciale C, Giani M, Bresin E, Caringella DA, Borochowitz ZU, Siriwardena K, Winship I, Renieri A, Meloni I.

Nephrol Dial Transplant. 2006 Mar;21(3):665-71. Epub 2005 Dec 7.

PMID:
16338941
13.

Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families.

Nabais Sá MJ, Storey H, Flinter F, Nagel M, Sampaio S, Castro R, Araújo JA, Gaspar MA, Soares C, Oliveira A, Henriques AC, da Costa AG, Abreu CP, Ponce P, Alves R, Pinho L, Silva SE, de Moura CP, Mendonça L, Carvalho F, Pestana M, Alves S, Carvalho F, Oliveira JP.

Clin Genet. 2015 Nov;88(5):456-61. doi: 10.1111/cge.12521. Epub 2014 Nov 10.

PMID:
25307543
14.

Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria.

Slajpah M, Gorinsek B, Berginc G, Vizjak A, Ferluga D, Hvala A, Meglic A, Jaksa I, Furlan P, Gregoric A, Kaplan-Pavlovcic S, Ravnik-Glavac M, Glavac D.

Kidney Int. 2007 Jun;71(12):1287-95. Epub 2007 Mar 28.

15.

COL4A4 mutation in thin basement membrane disease previously described in Alport syndrome.

Buzza M, Wang YY, Dagher H, Babon JJ, Cotton RG, Powell H, Dowling J, Savige J.

Kidney Int. 2001 Aug;60(2):480-3.

16.

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.

17.

A Novel Splicing Mutation Identified in a Chinese Family with X-linked Alport Syndrome Using Targeted Next-Generation Sequencing.

Chen C, Lu CX, Wang Q, Cao LH, Luo Y, Zhang X.

Genet Test Mol Biomarkers. 2016 Apr;20(4):203-7. doi: 10.1089/gtmb.2015.0248. Epub 2016 Feb 11.

PMID:
26866448
18.

Nine novel COL4A3 and COL4A4 mutations and polymorphisms identified in inherited membrane diseases.

Rana K, Tonna S, Wang YY, Sin L, Lin T, Shaw E, Mookerjee I, Savige J.

Pediatr Nephrol. 2007 May;22(5):652-7. Epub 2007 Jan 10.

PMID:
17216251
19.

Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4).

Jefferson JA, Lemmink HH, Hughes AE, Hill CM, Smeets HJ, Doherty CC, Maxwell AP.

Nephrol Dial Transplant. 1997 Aug;12(8):1595-9.

PMID:
9269635
20.

Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy.

Weber S, Strasser K, Rath S, Kittke A, Beicht S, Alberer M, Lange-Sperandio B, Hoyer PF, Benz MR, Ponsel S, Weber LT, Klein HG, Hoefele J.

Pediatr Nephrol. 2016 Jun;31(6):941-55. doi: 10.1007/s00467-015-3302-4. Epub 2016 Jan 25.

PMID:
26809805

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