Ridanpää M - Search Results

1

Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy.

Donner K, Ollikainen M, Ridanpää M, Christen HJ, Goebel HH, de Visser M, Pelin K, Wallgren-Pettersson C. Donner K, et al. Among authors: ridanpaa m. Neuromuscul Disord. 2002 Feb;12(2):151-8. doi: 10.1016/s0960-8966(01)00252-8. Neuromuscul Disord. 2002. PMID: 11738357

2

Refined localisation of the genes for nebulin and titin on chromosome 2q allows the assignment of nebulin as a candidate gene for autosomal recessive nemaline myopathy.

Pelin K, Ridanpää M, Donner K, Wilton S, Krishnarajah J, Laing N, Kolmerer B, Millevoi S, Labeit S, de la Chapelle A, Wallgren-Petterson C. Pelin K, et al. Among authors: ridanpaa m. Eur J Hum Genet. 1997 Jul-Aug;5(4):229-34. Eur J Hum Genet. 1997. PMID: 9359044

3

Large genomic rearrangements and germline epimutations in Lynch syndrome.

Gylling A, Ridanpää M, Vierimaa O, Aittomäki K, Avela K, Kääriäinen H, Laivuori H, Pöyhönen M, Sallinen SL, Wallgren-Pettersson C, Järvinen HJ, Mecklin JP, Peltomäki P. Gylling A, et al. Among authors: ridanpaa m. Int J Cancer. 2009 May 15;124(10):2333-40. doi: 10.1002/ijc.24230. Int J Cancer. 2009. PMID: 19173287

4

A serine/threonine kinase gene defective in Peutz-Jeghers syndrome.

Hemminki A, Markie D, Tomlinson I, Avizienyte E, Roth S, Loukola A, Bignell G, Warren W, Aminoff M, Höglund P, Järvinen H, Kristo P, Pelin K, Ridanpää M, Salovaara R, Toro T, Bodmer W, Olschwang S, Olsen AS, Stratton MR, de la Chapelle A, Aaltonen LA. Hemminki A, et al. Among authors: ridanpaa m. Nature. 1998 Jan 8;391(6663):184-7. doi: 10.1038/34432. Nature. 1998. PMID: 9428765

5

Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.

Ridanpää M, van Eenennaam H, Pelin K, Chadwick R, Johnson C, Yuan B, vanVenrooij W, Pruijn G, Salmela R, Rockas S, Mäkitie O, Kaitila I, de la Chapelle A. Ridanpää M, et al. Cell. 2001 Jan 26;104(2):195-203. doi: 10.1016/s0092-8674(01)00205-7. Cell. 2001. PMID: 11207361 Free article.

6

The major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most Finnish cases.

Ridanpää M, Jain P, McKusick VA, Francomano CA, Kaitila I. Ridanpää M, et al. Am J Med Genet C Semin Med Genet. 2003 Aug 15;121C(1):81-3. doi: 10.1002/ajmg.c.20006. Am J Med Genet C Semin Med Genet. 2003. PMID: 12888988

7

Integrated high-resolution BAC, P1, and transcript map of the CHH region in chromosome 9p13.

Vakkilainen T, Kivipensas P, Kaitila I, de le Chapelle A, Ridanpää M. Vakkilainen T, et al. Among authors: ridanpaa m. Genomics. 1999 Aug 1;59(3):319-25. doi: 10.1006/geno.1999.5883. Genomics. 1999. PMID: 10444333

8

Detection of ras gene mutations in human lung cancer: comparison of two screening assays based on the polymerase chain reaction.

Husgafvel-Pursiainen K, Ridanpää M, Hackman P, Anttila S, Karjalainen A, Onfelt A, Børresen AL, Vainio H. Husgafvel-Pursiainen K, et al. Among authors: ridanpaa m. Environ Health Perspect. 1992 Nov;98:183-5. doi: 10.1289/ehp.9298183. Environ Health Perspect. 1992. PMID: 1486847 Free PMC article.

9

Uniparental disomy in cartilage-hair hypoplasia.

Sulisalo T, Mäkitie O, Sistonen P, Ridanpää M, el-Rifai W, Ruuskanen O, de la Chapelle A, Kaitila I. Sulisalo T, et al. Among authors: ridanpaa m. Eur J Hum Genet. 1997 Jan-Feb;5(1):35-42. Eur J Hum Genet. 1997. PMID: 9156319

10

K-ras mutations in human adenocarcinoma of the lung: association with smoking and occupational exposure to asbestos.

Husgafvel-Pursiainen K, Hackman P, Ridanpää M, Anttila S, Karjalainen A, Partanen T, Taikina-Aho O, Heikkilä L, Vainio H. Husgafvel-Pursiainen K, et al. Among authors: ridanpaa m. Int J Cancer. 1993 Jan 21;53(2):250-6. doi: 10.1002/ijc.2910530213. Int J Cancer. 1993. PMID: 8425762

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