Kääriäinen H - Search Results

1

Spectrum of COL4A5 mutations in Finnish Alport syndrome patients.

Martin P, Heiskari N, Pajari H, Grönhagen-Riska C, Kääriäinen H, Koskimies O, Tryggvason K. Martin P, et al. Among authors: kaariainen h. Hum Mutat. 2000 Jun;15(6):579. doi: 10.1002/1098-1004(200006)15:6<579::AID-HUMU13>3.0.CO;2-K. Hum Mutat. 2000. PMID: 10862091

2

Ocular findings in 34 patients with Alport syndrome: correlation of the findings to mutations in COL4A5 gene.

Pajari H, Setälä K, Heiskari N, Kääriäinen H, Rosenlöf K, Koskimies O. Pajari H, et al. Among authors: kaariainen h. Acta Ophthalmol Scand. 1999 Apr;77(2):214-7. doi: 10.1034/j.1600-0420.1999.770220.x. Acta Ophthalmol Scand. 1999. PMID: 10321542 Free article.

3

Alport's syndrome in 78 patients: epidemiological and clinical study.

Pajari H, Kääriäinen H, Muhonen T, Koskimies O. Pajari H, et al. Among authors: kaariainen h. Acta Paediatr. 1996 Nov;85(11):1300-6. doi: 10.1111/j.1651-2227.1996.tb13915.x. Acta Paediatr. 1996. PMID: 8955456

4

Molecular studies in Finnish patients with familial juvenile nephronophthisis exclude a founder effect and support a common mutation causing mechanism.

Ala-Mello S, Sankila EM, Koskimies O, de la Chapelle A, Kääriäinen H. Ala-Mello S, et al. Among authors: kaariainen h. J Med Genet. 1998 Apr;35(4):279-83. doi: 10.1136/jmg.35.4.279. J Med Genet. 1998. PMID: 9598719 Free PMC article.

5

The burden of genetic disease and attitudes towards gene testing in Alport syndrome.

Pajari H, Koskimies O, Muhonen T, Kääriäinen H. Pajari H, et al. Among authors: kaariainen h. Pediatr Nephrol. 1999 Aug;13(6):471-6. doi: 10.1007/s004670050640. Pediatr Nephrol. 1999. PMID: 10452272

6

Nephronophthisis in Finland: epidemiology and comparison of genetically classified subgroups.

Ala-Mello S, Koskimies O, Rapola J, Kääriäinen H. Ala-Mello S, et al. Among authors: kaariainen h. Eur J Hum Genet. 1999 Feb-Mar;7(2):205-11. doi: 10.1038/sj.ejhg.5200268. Eur J Hum Genet. 1999. PMID: 10196704

7

Dominant and recessive polycystic kidney disease in children: evaluation of clinical features and laboratory data.

Kääriäinen H, Koskimies O, Norio R. Kääriäinen H, et al. Pediatr Nephrol. 1988 Jul;2(3):296-302. doi: 10.1007/BF00858681. Pediatr Nephrol. 1988. PMID: 3153029

8

Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.

Annunen S, Körkkö J, Czarny M, Warman ML, Brunner HG, Kääriäinen H, Mulliken JB, Tranebjaerg L, Brooks DG, Cox GF, Cruysberg JR, Curtis MA, Davenport SL, Friedrich CA, Kaitila I, Krawczynski MR, Latos-Bielenska A, Mukai S, Olsen BR, Shinno N, Somer M, Vikkula M, Zlotogora J, Prockop DJ, Ala-Kokko L. Annunen S, et al. Among authors: kaariainen h. Am J Hum Genet. 1999 Oct;65(4):974-83. doi: 10.1086/302585. Am J Hum Genet. 1999. PMID: 10486316 Free PMC article.

9

Nephronophthisis and ulcerative colitis in siblings: a new association.

Ala-Mello S, Kääriäinen H, Koskimies O. Ala-Mello S, et al. Among authors: kaariainen h. Pediatr Nephrol. 2001 Jun;16(6):507-9. doi: 10.1007/s004670100597. Pediatr Nephrol. 2001. PMID: 11420917

10

[Hereditary renal diseases and their genetic diagnosis].

Kääriäinen H, Tryggvason K. Kääriäinen H, et al. Duodecim. 1995;111(15):1398-400. Duodecim. 1995. PMID: 9244694 Review. Finnish. No abstract available.

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