Wadelius C - Search Results

1

The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe.

Maugeri A, Flothmann K, Hemmrich N, Ingvast S, Jorge P, Paloma E, Patel R, Rozet JM, Tammur J, Testa F, Balcells S, Bird AC, Brunner HG, Hoyng CB, Metspalu A, Simonelli F, Allikmets R, Bhattacharya SS, D'Urso M, Gonzàlez-Duarte R, Kaplan J, te Meerman GJ, Santos R, Schwartz M, Van Camp G, Wadelius C, Weber BH, Cremers FP. Maugeri A, et al. Among authors: wadelius c. Eur J Hum Genet. 2002 Mar;10(3):197-203. doi: 10.1038/sj.ejhg.5200784. Eur J Hum Genet. 2002. PMID: 11973624

2

The mutation spectrum of the bestrophin protein--functional implications.

Bakall B, Marknell T, Ingvast S, Koisti MJ, Sandgren O, Li W, Bergen AA, Andreasson S, Rosenberg T, Petrukhin K, Wadelius C. Bakall B, et al. Among authors: wadelius c. Hum Genet. 1999 May;104(5):383-9. doi: 10.1007/s004390050972. Hum Genet. 1999. PMID: 10394929

3

Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies.

Allikmets R, Seddon JM, Bernstein PS, Hutchinson A, Atkinson A, Sharma S, Gerrard B, Li W, Metzker ML, Wadelius C, Caskey CT, Dean M, Petrukhin K. Allikmets R, et al. Among authors: wadelius c. Hum Genet. 1999 Jun;104(6):449-53. doi: 10.1007/s004390050986. Hum Genet. 1999. PMID: 10453731

4

Autoimmune polyglandular disease type I. Exclusion map using amplifiable multiallelic markers in a microtiter well format.

Aaltonen J, Komulainen J, Vikman A, Palotie A, Wadelius C, Perheentupa J, Peltonen L. Aaltonen J, et al. Among authors: wadelius c. Eur J Hum Genet. 1993;1(2):164-71. Eur J Hum Genet. 1993. PMID: 8055325

5

A missense mutation in the FALDH gene identified in Sjögren-Larsson syndrome patients originating from the northern part of Sweden.

Sillén A, Jagell S, Wadelius C. Sillén A, et al. Among authors: wadelius c. Hum Genet. 1997 Aug;100(2):201-3. doi: 10.1007/s004390050490. Hum Genet. 1997. PMID: 9254849

6

Clinical expression of Best's vitelliform macular dystrophy in Swedish families with mutations in the bestrophin gene.

Ponjavic V, Eksandh L, Andréasson S, Sjöström K, Bakall B, Ingvast S, Wadelius C, Ehinger B. Ponjavic V, et al. Among authors: wadelius c. Ophthalmic Genet. 1999 Dec;20(4):251-7. doi: 10.1076/opge.20.4.251.2270. Ophthalmic Genet. 1999. PMID: 10617923

7

Linkage analysis identifies the thyroglobulin gene region as a major locus for familial congenital hypothyroidism.

Ahlbom BE, Yaqoob M, Gustavsson P, Abbas HG, Annerén G, Larsson A, Wadelius C. Ahlbom BE, et al. Among authors: wadelius c. Hum Genet. 2002 Feb;110(2):145-7. doi: 10.1007/s00439-002-0680-z. Epub 2002 Jan 29. Hum Genet. 2002. PMID: 11935320

8

Molecular studies of haemophilia B in Sweden. Identification of patients with total deletion of the factor IX gene and without inhibitory antibodies.

Wadelius C, Blombäck M, Pettersson U. Wadelius C, et al. Hum Genet. 1988 Dec;81(1):13-7. doi: 10.1007/BF00283721. Hum Genet. 1988. PMID: 2848757

9

Confirmation of linkage to 1q21-31 in a Danish autosomal dominant juvenile-onset glaucoma family and evidence of genetic heterogeneity.

Graff C, Urbak SF, Jerndal T, Wadelius C. Graff C, et al. Among authors: wadelius c. Hum Genet. 1995 Sep;96(3):285-9. doi: 10.1007/BF00210408. Hum Genet. 1995. PMID: 7649543

10

Genetic mapping using fluorescent quantification of allele frequencies in pooled DNA loaded by solid support.

Graff C, Persson A, Ulfendahl PJ, Wahlberg J, Wadelius C. Graff C, et al. Among authors: wadelius c. Clin Genet. 1997 Mar;51(3):145-52. doi: 10.1111/j.1399-0004.1997.tb02444.x. Clin Genet. 1997. PMID: 9137878

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