Pulkkinen L - Search Results

1

Assignment of the tibial muscular dystrophy locus to chromosome 2q31.

Haravuori H, Mäkelä-Bengs P, Udd B, Partanen J, Pulkkinen L, Somer H, Peltonen L. Haravuori H, et al. Among authors: pulkkinen l. Am J Hum Genet. 1998 Mar;62(3):620-6. doi: 10.1086/301752. Am J Hum Genet. 1998. PMID: 9497249 Free PMC article.

2

Tibial muscular dystrophy--from clinical description to linkage on chromosome 2q31.

Udd B, Haravuori H, Kalimo H, Partanen J, Pulkkinen L, Paetau A, Peltonen L, Somer H. Udd B, et al. Among authors: pulkkinen l. Neuromuscul Disord. 1998 Jun;8(5):327-32. doi: 10.1016/s0960-8966(98)00024-8. Neuromuscul Disord. 1998. PMID: 9673987

3

Expression of decorin in human tissues and cell lines and defined chromosomal assignment of the gene locus (DCN).

Pulkkinen L, Alitalo T, Krusius T, Peltonen L. Pulkkinen L, et al. Cytogenet Cell Genet. 1992;60(2):107-11. doi: 10.1159/000133314. Cytogenet Cell Genet. 1992. PMID: 1611907

4

Location on chromosome 15 of the gene defect causing Marfan syndrome.

Kainulainen K, Pulkkinen L, Savolainen A, Kaitila I, Peltonen L. Kainulainen K, et al. Among authors: pulkkinen l. N Engl J Med. 1990 Oct 4;323(14):935-9. doi: 10.1056/NEJM199010043231402. N Engl J Med. 1990. PMID: 2402262 Free article.

5

How to find a mutation behind an inherited disease.

Peltonen L, Pulkkinen L. Peltonen L, et al. Among authors: pulkkinen l. Ann Clin Res. 1986;18(5-6):224-30. Ann Clin Res. 1986. PMID: 2882725

6

Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16.

Tromp G, Kuivaniemi H, Raphael S, Ala-Kokko L, Christiano A, Considine E, Dhulipala R, Hyland J, Jokinen A, Kivirikko S, Korn R, Madhatheri S, McCarron S, Pulkkinen L, Punnett H, Shimoya K, Spotila L, Tate A, Williams CJ. Tromp G, et al. Among authors: pulkkinen l. Am J Hum Genet. 1996 Nov;59(5):1097-107. Am J Hum Genet. 1996. PMID: 8900239 Free PMC article.

7

Deficient expression of the gene coding for decorin in a lethal form of Marfan syndrome.

Pulkkinen L, Kainulainen K, Krusius T, Mäkinen P, Schollin J, Gustavsson KH, Peltonen L. Pulkkinen L, et al. J Biol Chem. 1990 Oct 15;265(29):17780-5. J Biol Chem. 1990. PMID: 2211661 Free article.

8

Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum.

Ringpfeil F, Nakano A, Uitto J, Pulkkinen L. Ringpfeil F, et al. Among authors: pulkkinen l. Am J Hum Genet. 2001 Mar;68(3):642-52. doi: 10.1086/318807. Epub 2001 Feb 9. Am J Hum Genet. 2001. PMID: 11179012 Free PMC article.

9

Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa.

Pulkkinen L, Bullrich F, Czarnecki P, Weiss L, Uitto J. Pulkkinen L, et al. Am J Hum Genet. 1997 Sep;61(3):611-9. doi: 10.1086/515524. Am J Hum Genet. 1997. PMID: 9326326 Free PMC article.

10

Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy.

Pulkkinen L, Smith FJ, Shimizu H, Murata S, Yaoita H, Hachisuka H, Nishikawa T, McLean WH, Uitto J. Pulkkinen L, et al. Hum Mol Genet. 1996 Oct;5(10):1539-46. doi: 10.1093/hmg/5.10.1539. Hum Mol Genet. 1996. PMID: 8894687

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