de la Chapelle A - Search Results

1

Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.

Wutz K, Sauer C, Zrenner E, Lorenz B, Alitalo T, Broghammer M, Hergersberg M, de la Chapelle A, Weber BH, Wissinger B, Meindl A, Pusch CM. Wutz K, et al. Among authors: de la chapelle a. Eur J Hum Genet. 2002 Aug;10(8):449-56. doi: 10.1038/sj.ejhg.5200828. Eur J Hum Genet. 2002. PMID: 12111638

2

Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland.

Huopaniemi L, Rantala A, Forsius H, Somer M, de la Chapelle A, Alitalo T. Huopaniemi L, et al. Among authors: de la chapelle a. Eur J Hum Genet. 1999 Apr;7(3):368-76. doi: 10.1038/sj.ejhg.5200300. Eur J Hum Genet. 1999. PMID: 10234514

3

A novel CACNA1F gene mutation causes Aland Island eye disease.

Jalkanen R, Bech-Hansen NT, Tobias R, Sankila EM, Mäntyjärvi M, Forsius H, de la Chapelle A, Alitalo T. Jalkanen R, et al. Among authors: de la chapelle a. Invest Ophthalmol Vis Sci. 2007 Jun;48(6):2498-502. doi: 10.1167/iovs.06-1103. Invest Ophthalmol Vis Sci. 2007. PMID: 17525176

4

Localization of the Aland Island eye disease locus to the pericentromeric region of the X chromosome by linkage analysis.

Alitalo T, Kruse TA, Forsius H, Eriksson AW, de la Chapelle A. Alitalo T, et al. Among authors: de la chapelle a. Am J Hum Genet. 1991 Jan;48(1):31-8. Am J Hum Genet. 1991. PMID: 1985461 Free PMC article.

5

Molecular characterization of a Y;15 translocation segregating in a family.

Alitalo T, Tiihonen J, Hakola P, de la Chapelle A. Alitalo T, et al. Among authors: de la chapelle a. Hum Genet. 1988 May;79(1):29-35. doi: 10.1007/BF00291705. Hum Genet. 1988. PMID: 3366460

6

Linkage disequilibrium and physical mapping of X-linked juvenile retinoschisis.

Huopaniemi L, Rantala A, Tahvanainen E, de la Chapelle A, Alitalo T. Huopaniemi L, et al. Among authors: de la chapelle a. Am J Hum Genet. 1997 May;60(5):1139-49. Am J Hum Genet. 1997. PMID: 9150161 Free PMC article.

7

Refined localization of the gene causing X-linked juvenile retinoschisis.

Alitalo T, Kruse TA, de la Chapelle A. Alitalo T, et al. Among authors: de la chapelle a. Genomics. 1991 Mar;9(3):505-10. doi: 10.1016/0888-7543(91)90417-d. Genomics. 1991. PMID: 2032721

8

Skewed secondary sex ratio in the offspring of carriers of the 214G > A mutation of the RS1 gene.

Huopaniemi L, Fellman J, Rantala A, Eriksson A, Forsius H, De La Chapelle A, Alitalo T. Huopaniemi L, et al. Among authors: de la chapelle a. Ann Hum Genet. 1999 Nov;63(Pt 6):521-33. doi: 10.1017/S0003480099007812. Ann Hum Genet. 1999. PMID: 11246454

9

Genetic mapping of 12 marker loci in the Xp22.3-p21.2 region.

Alitalo T, Kruse TA, Ahrens P, Albertsen HM, Eriksson AW, de la Chapelle A. Alitalo T, et al. Among authors: de la chapelle a. Hum Genet. 1991 Apr;86(6):599-603. doi: 10.1007/BF00201548. Hum Genet. 1991. PMID: 1673960

10

Linkage relationships and gene order around the locus for X-linked retinoschisis.

Alitalo T, Forsius H, Kärnä J, Frants RR, Eriksson AW, Wood S, Kruse TA, de la Chapelle A. Alitalo T, et al. Among authors: de la chapelle a. Am J Hum Genet. 1988 Oct;43(4):476-83. Am J Hum Genet. 1988. PMID: 3177388 Free PMC article.

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