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Items: 1 to 20 of 38

1.

Mutation of a highly conserved residue of betaI spectrin associated with fatal and near-fatal neonatal hemolytic anemia.

Gallagher PG, Petruzzi MJ, Weed SA, Zhang Z, Marchesi SL, Mohandas N, Morrow JS, Forget BG.

J Clin Invest. 1997 Jan 15;99(2):267-77.

2.

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.

3.

Alport syndrome.

Kashtan CE, Michael AF.

Kidney Int. 1996 Nov;50(5):1445-63. Review. No abstract available.

4.

How many X-linked genes for non-specific mental retardation (MRX) are there?

Gedeon AK, Donnelly AJ, Mulley JC, Kerr B, Turner G.

Am J Med Genet. 1996 Jul 12;64(1):158-62. Review. No abstract available.

PMID:
8826466
5.

XLMR genes: update 1996.

Lubs HA, Chiurazzi P, Arena JF, Schwartz C, Tranebjaerg L, Neri G.

Am J Med Genet. 1996 Jul 12;64(1):147-57. Review.

PMID:
8826465
6.

X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.

Renieri A, Bruttini M, Galli L, Zanelli P, Neri T, Rossetti S, Turco A, Heiskari N, Zhou J, Gusmano R, Massella L, Banfi G, Scolari F, Sessa A, Rizzoni G, Tryggvason K, Pignatti PF, Savi M, Ballabio A, De Marchi M.

Am J Hum Genet. 1996 Jun;58(6):1192-204.

7.

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
8.

Smooth muscle tumors associated with X-linked Alport syndrome: carrier detection in females.

Dahan K, Heidet L, Zhou J, Mettler G, Leppig KA, Proesmans W, David A, Roussel B, Mongeau JG, Gould JM, et al.

Kidney Int. 1995 Dec;48(6):1900-6.

9.

Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors.

Zhou J, Mochizuki T, Smeets H, Antignac C, Laurila P, de Paepe A, Tryggvason K, Reeders ST.

Science. 1993 Aug 27;261(5125):1167-9.

PMID:
8356449
10.

Evidence that red blood cell protein p55 may participate in the skeleton-membrane linkage that involves protein 4.1 and glycophorin C.

Alloisio N, Dalla Venezia N, Rana A, Andrabi K, Texier P, Gilsanz F, Cartron JP, Delaunay J, Chishti AH.

Blood. 1993 Aug 15;82(4):1323-7.

11.

Type IV collagen alpha 5 chain. Normal distribution and abnormalities in X-linked Alport syndrome revealed by monoclonal antibody.

Yoshioka K, Hino S, Takemura T, Maki S, Wieslander J, Takekoshi Y, Makino H, Kagawa M, Sado Y, Kashtan CE.

Am J Pathol. 1994 May;144(5):986-96.

12.

Immunohistologic studies of type IV collagen in anterior lens capsules of patients with Alport syndrome.

Cheong HI, Kashtan CE, Kim Y, Kleppel MM, Michael AF.

Lab Invest. 1994 Apr;70(4):553-7.

PMID:
8176894
13.

Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression.

Antignac C, Knebelmann B, Drouot L, Gros F, Deschênes G, Hors-Cayla MC, Zhou J, Tryggvason K, Grünfeld JP, Broyer M, et al.

J Clin Invest. 1994 Mar;93(3):1195-207.

14.

A monoclonal antibody marker for Alport syndrome identifies the Alport antigen as the alpha 5 chain of type IV collagen.

Ding J, Kashtan CE, Fan WW, Kleppel MM, Sun MJ, Kalluri R, Neilson EG, Michael AF.

Kidney Int. 1994 May;45(5):1504-6.

15.

Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome.

Mochizuki T, Lemmink HH, Mariyama M, Antignac C, Gubler MC, Pirson Y, Verellen-Dumoulin C, Chan B, Schröder CH, Smeets HJ, et al.

Nat Genet. 1994 Sep;8(1):77-81.

PMID:
7987396
16.

X-linked recessive nephritis with mental retardation, sensorineural hearing loss, and macrocephaly.

Lane W, Robson M, Lowry RB, Leung AK.

Clin Genet. 1994 Jun;45(6):314-7.

PMID:
7923864
17.

Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene.

Gallagher PG, Weed SA, Tse WT, Benoit L, Morrow JS, Marchesi SL, Mohandas N, Forget BG.

J Clin Invest. 1995 Mar;95(3):1174-82.

18.

Deletion spanning the 5' ends of both the COL4A5 and COL4A6 genes in a patient with Alport's syndrome and leiomyomatosis.

Renieri A, Bassi MT, Galli L, Zhou J, Giani M, De Marchi M, Ballabio A.

Hum Mutat. 1994;4(3):195-8.

PMID:
7833948
19.

Deletions of both alpha 5(IV) and alpha 6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours.

Heidet L, Dahan K, Zhou J, Xu Z, Cochat P, Gould JD, Leppig KA, Proesmans W, Guyot C, Guillot M, et al.

Hum Mol Genet. 1995 Jan;4(1):99-108.

PMID:
7711741
20.

Hereditary nephritis associated with May-Hegglin anomaly.

Brivet F, Girot R, Barbanel C, Gazengel C, Maier M, Crosnier J.

Nephron. 1981;29(1-2):59-62.

PMID:
7329476

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