de la Chapelle A - Search Results

1

Refined mapping of the Cohen syndrome gene by linkage disequilibrium.

Kolehmainen J, Norio R, Kivitie-Kallio S, Tahvanainen E, de la Chapelle A, Lehesjoki AE. Kolehmainen J, et al. Among authors: de la chapelle a. Eur J Hum Genet. 1997 Jul-Aug;5(4):206-13. Eur J Hum Genet. 1997. PMID: 9359041

2

Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.

Kolehmainen J, Black GC, Saarinen A, Chandler K, Clayton-Smith J, Träskelin AL, Perveen R, Kivitie-Kallio S, Norio R, Warburg M, Fryns JP, de la Chapelle A, Lehesjoki AE. Kolehmainen J, et al. Among authors: de la chapelle a. Am J Hum Genet. 2003 Jun;72(6):1359-69. doi: 10.1086/375454. Epub 2003 May 2. Am J Hum Genet. 2003. PMID: 12730828 Free PMC article.

3

Selective intestinal malabsorption of vitamin B12 displays recessive mendelian inheritance: assignment of a locus to chromosome 10 by linkage.

Aminoff M, Tahvanainen E, Gräsbeck R, Weissenbach J, Broch H, de la Chapelle A. Aminoff M, et al. Among authors: de la chapelle a. Am J Hum Genet. 1995 Oct;57(4):824-31. Am J Hum Genet. 1995. PMID: 7573042 Free PMC article.

4

Fine mapping of the congenital chloride diarrhea gene by linkage disequilibrium.

Höglund P, Sistonen P, Norio R, Holmberg C, Dimberg A, Gustavson KH, de la Chapelle A, Kere J. Höglund P, et al. Among authors: de la chapelle a. Am J Hum Genet. 1995 Jul;57(1):95-102. Am J Hum Genet. 1995. PMID: 7611301 Free PMC article.

5

Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis.

Tahvanainen E, Norio R, Karila E, Ranta S, Weissenbach J, Sistonen P, de la Chapelle A. Tahvanainen E, et al. Among authors: de la chapelle a. Nat Genet. 1994 Jun;7(2):201-4. doi: 10.1038/ng0694-201. Nat Genet. 1994. PMID: 7920642

6

PME of Unverricht-Lundborg type in the Mediterranean region: linkage and linkage disequilibrium confirm the assignment to the EPM1 locus.

Lehesjoki AE, Tassinari CA, Avanzini G, Michelucci R, Franceschetti S, Antonelli A, Rubboli G, de la Chapelle A. Lehesjoki AE, et al. Among authors: de la chapelle a. Hum Genet. 1994 Jun;93(6):668-74. doi: 10.1007/BF00201568. Hum Genet. 1994. PMID: 8005591

7

The gene for a recessively inherited human childhood progressive epilepsy with mental retardation maps to the distal short arm of chromosome 8.

Tahvanainen E, Ranta S, Hirvasniemi A, Karila E, Leisti J, Sistonen P, Weissenbach J, Lehesjoki AE, de la Chapelle A. Tahvanainen E, et al. Among authors: de la chapelle a. Proc Natl Acad Sci U S A. 1994 Jul 19;91(15):7267-70. doi: 10.1073/pnas.91.15.7267. Proc Natl Acad Sci U S A. 1994. PMID: 8041778 Free PMC article.

8

Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping.

Lehesjoki AE, Koskiniemi M, Norio R, Tirrito S, Sistonen P, Lander E, de la Chapelle A. Lehesjoki AE, et al. Among authors: de la chapelle a. Hum Mol Genet. 1993 Aug;2(8):1229-34. doi: 10.1093/hmg/2.8.1229. Hum Mol Genet. 1993. PMID: 8104628

9

Linkage disequilibrium mapping of the cornea plana congenita gene CNA2.

Tahvanainen E, Forsius H, Damsten M, Karila E, Kolehmainen J, Weissenbach J, Sistonen P, de la Chapelle A. Tahvanainen E, et al. Among authors: de la chapelle a. Genomics. 1995 Dec 10;30(3):409-14. doi: 10.1006/geno.1995.1258. Genomics. 1995. PMID: 8825624

10

The genetics of cornea plana congenita.

Tahvanainen E, Forsius H, Kolehmainen J, Damsten M, Fellman J, de la Chapelle A. Tahvanainen E, et al. Among authors: de la chapelle a. J Med Genet. 1996 Feb;33(2):116-9. doi: 10.1136/jmg.33.2.116. J Med Genet. 1996. PMID: 8929947 Free PMC article.

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