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Items: 1 to 20 of 28754

1.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

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

PMID:
19728970
2.

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
3.

Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling.

Gross O, Netzer KO, Lambrecht R, Seibold S, Weber M.

Nephrol Dial Transplant. 2002 Jul;17(7):1218-27.

PMID:
12105244
4.

The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.

Jensen HK.

Dan Med Bull. 2002 Nov;49(4):318-45. Review.

PMID:
12553167
5.

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
6.

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
7.

Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.

Knebelmann B, Breillat C, Forestier L, Arrondel C, Jacassier D, Giatras I, Drouot L, Deschênes G, Grünfeld JP, Broyer M, Gubler MC, Antignac C.

Am J Hum Genet. 1996 Dec;59(6):1221-32.

8.

X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males.

Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Verellen C, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schröder C, Sanak M, Krejcova S, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC.

J Am Soc Nephrol. 2000 Apr;11(4):649-57.

10.

Clinical and genetic mapping of X chromosome in the X-linked dominant inherited Alport's syndrome.

Dai Y, Huang Y, He X, Wang S, Huang R, Tang M, Hu C.

Saudi J Kidney Dis Transpl. 2008 Sep;19(5):767-74.

11.

Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome.

Marcocci E, Uliana V, Bruttini M, Artuso R, Silengo MC, Zerial M, Bergesio F, Amoroso A, Savoldi S, Pennesi M, Giachino D, Rombolà G, Fogazzi GB, Rosatelli C, Martinhago CD, Carmellini M, Mancini R, Di Costanzo G, Longo I, Renieri A, Mari F.

Nephrol Dial Transplant. 2009 May;24(5):1464-71. doi: 10.1093/ndt/gfn681. Epub 2009 Jan 7.

12.

Detection of COL4A5 gene mutations in Chinese patients with Alport's syndrome.

Pan X, Yan J, Ren H, Zhang W, Shi H, Yu H, Wang C, Hao C, Chen X, Chen N.

Nephrol Dial Transplant. 2004 May;19(5):1123-8. Epub 2004 Feb 19. Erratum in: Nephrol Dial Transplant. 2004 Jul;19(7):1944.

PMID:
14993485
13.

Detection of mutations in COL4A5 in patients with Alport syndrome.

Plant KE, Green PM, Vetrie D, Flinter FA.

Hum Mutat. 1999;13(2):124-32.

PMID:
10094548
14.
15.

X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study.

Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Dahan K, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schröder C, Sanak M, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC.

J Am Soc Nephrol. 2003 Oct;14(10):2603-10.

16.

Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP.

Barker DF, Denison JC, Atkin CL, Gregory MC.

Am J Med Genet. 2001 Jan 15;98(2):148-60.

PMID:
11223851
17.

Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing.

Inoue Y, Nishio H, Shirakawa T, Nakanishi K, Nakamura H, Sumino K, Nishiyama K, Iijima K, Yoshikawa N.

Am J Kidney Dis. 1999 Nov;34(5):854-62.

PMID:
10561141
18.

High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing.

Martin P, Heiskari N, Zhou J, Leinonen A, Tumelius T, Hertz JM, Barker D, Gregory M, Atkin C, Styrkarsdottir U, Neumann H, Springate J, Shows T, Pettersson E, Tryggvason K.

J Am Soc Nephrol. 1998 Dec;9(12):2291-301.

19.

A novel Cys1638Tyr NC1 domain substitution in alpha5(IV) collagen causes Alport syndrome with late onset renal failure without hearing loss or eye abnormalities.

Wilson JC, Yoon HS, Walker RJ, Eccles MR.

Nephrol Dial Transplant. 2007 May;22(5):1338-46. Epub 2007 Feb 3.

PMID:
17277342
20.

Rapid DNA-based prenatal diagnosis by genetic linkage in three families with Alport's syndrome.

Turco AE, Bresin E, Rossetti S, Peterlin B, Morandi R, Pignatti PF.

Am J Kidney Dis. 1997 Aug;30(2):174-9.

PMID:
9261027

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