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Items: 1 to 20 of 38

1.

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
2.

Alport syndrome. A review of the ocular manifestations.

Colville DJ, Savige J.

Ophthalmic Genet. 1997 Dec;18(4):161-73. Review.

PMID:
9457747
3.

The clinical spectrum of type IV collagen mutations.

Lemmink HH, Schröder CH, Monnens LA, Smeets HJ.

Hum Mutat. 1997;9(6):477-99. Review.

PMID:
9195222
4.

Alport syndrome: from bedside to genome to bedside.

Kashtan CE, Michael AF.

Am J Kidney Dis. 1993 Nov;22(5):627-40. Review.

PMID:
8238007
5.

Clinical and molecular diagnosis of Alport syndrome.

Kashtan CE.

Proc Assoc Am Physicians. 1995 Oct;107(3):306-13. Review.

PMID:
8608415
6.

[Clinical and genetic features of the Alport 'syndromes'].

Pescucci C, Longo I, Mari F, Scala E, Bruttini M, Caselli R, Renieri A.

G Ital Nefrol. 2005 Sep-Oct;22(5):466-76. Review. Italian.

PMID:
16267804
7.

[From Alport syndrome to benign familial hematuria: clinical and genetic aspect].

Maziers N, Dahan K, Pirson Y.

Nephrol Ther. 2005 May;1(2):90-100. Epub 2005 Jun 1. Review. French.

PMID:
16895672
8.
9.

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
10.

Alport syndrome and diffuse leiomyomatosis. Clinical aspects, pathology, molecular biology and extracellular matrix studies. A synthesis.

Garcia-Torres R, Cruz D, Orozco L, Heidet L, Gubler MC.

Nephrologie. 2000;21(1):9-12. Review.

PMID:
10730274
11.

Genotype and phenotype in Fabry disease: analysis of the Fabry Outcome Survey.

Schaefer E, Mehta A, Gal A.

Acta Paediatr Suppl. 2005 Mar;94(447):87-92; discussion 79. Review.

PMID:
15895718
12.

Alport syndrome and thin basement membrane nephropathy.

Thorner PS.

Nephron Clin Pract. 2007;106(2):c82-8. Epub 2007 Jun 6. Review.

PMID:
17570934
13.

Molecular genetics of Alport syndrome.

Tryggvason K, Zhou J, Hostikka SL, Shows TB.

Kidney Int. 1993 Jan;43(1):38-44. Review.

14.

The renal lesions of Alport syndrome.

Heidet L, Gubler MC.

J Am Soc Nephrol. 2009 Jun;20(6):1210-5. doi: 10.1681/ASN.2008090984. Epub 2009 May 21. Review.

15.

[Alport's syndrome: new findings].

García-Torres R, Orozco L.

Bol Med Hosp Infant Mex. 1993 Aug;50(8):596-602. Review. Spanish.

PMID:
8357522
16.

Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants.

Dang N, Klingberg S, Marr P, Murrell DF.

J Dermatol Sci. 2007 Jun;46(3):169-78. Epub 2007 Apr 10. Review.

PMID:
17425959
17.

Type-IV collagen related diseases.

Pescucci C, Longo I, Bruttini M, Mari F, Renieri A.

J Nephrol. 2003 Mar-Apr;16(2):314-6. Review.

PMID:
12768082
18.

Ocular features in Alport syndrome: pathogenesis and clinical significance.

Savige J, Sheth S, Leys A, Nicholson A, Mack HG, Colville D.

Clin J Am Soc Nephrol. 2015 Apr 7;10(4):703-9. doi: 10.2215/CJN.10581014. Epub 2015 Feb 3. Review.

19.
20.

Mutations in type IV collagen genes and Alport phenotypes.

Tryggvason K.

Contrib Nephrol. 1996;117:154-71. Review. No abstract available.

PMID:
8801044

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