de la Chapelle A - Search Results

1

Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping.

Cormand B, Avela K, Pihko H, Santavuori P, Talim B, Topaloglu H, de la Chapelle A, Lehesjoki AE. Cormand B, et al. Among authors: de la chapelle a. Am J Hum Genet. 1999 Jan;64(1):126-35. doi: 10.1086/302206. Am J Hum Genet. 1999. PMID: 9915951 Free PMC article.

2

Linkage studies in a new X-linked myopathy, suggesting exclusion of DMD locus and tentative assignment to distal Xq.

Saviranta P, Lindlöf M, Lehesjoki AE, Kalimo H, Lang H, Sonninen V, Savontaus ML, de la Chapelle A. Saviranta P, et al. Among authors: de la chapelle a. Am J Hum Genet. 1988 Jan;42(1):84-8. Am J Hum Genet. 1988. PMID: 2892402 Free PMC article.

3

Muscle-eye-brain disease and Fukuyama type congenital muscular dystrophy are not allelic.

Ranta S, Pihko H, Santavuori P, Tahvanainen E, de la Chapelle A. Ranta S, et al. Among authors: de la chapelle a. Neuromuscul Disord. 1995 May;5(3):221-5. doi: 10.1016/0960-8966(94)00058-h. Neuromuscul Disord. 1995. PMID: 7633187

4

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

5

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

6

Assignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysis.

Avela K, Lipsanen-Nyman M, Perheentupa J, Wallgren-Pettersson C, Marchand S, Fauré S, Sistonen P, de la Chapelle A, Lehesjoki AE. Avela K, et al. Among authors: de la chapelle a. Am J Hum Genet. 1997 Apr;60(4):896-902. Am J Hum Genet. 1997. PMID: 9106536 Free PMC article.

7

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

8

Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.

Joensuu T, Hämäläinen R, Yuan B, Johnson C, Tegelberg S, Gasparini P, Zelante L, Pirvola U, Pakarinen L, Lehesjoki AE, de la Chapelle A, Sankila EM. Joensuu T, et al. Among authors: de la chapelle a. Am J Hum Genet. 2001 Oct;69(4):673-84. doi: 10.1086/323610. Epub 2001 Aug 27. Am J Hum Genet. 2001. PMID: 11524702 Free PMC article.

9

Hemophilia A: genetic prediction and linkage studies in all available families in Finland.

Lehesjoki AE, Sistonen P, Rasi V, de la Chapelle A. Lehesjoki AE, et al. Among authors: de la chapelle a. Clin Genet. 1991 Mar;39(3):199-209. doi: 10.1111/j.1399-0004.1991.tb03012.x. Clin Genet. 1991. PMID: 2036741

10

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.

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