Ridanpää M - Search Results

1

Novel heat pulse extension-PCR-based method for detection of large CTG-repeat expansions in myotonic dystrophy type 1.

Orpana AK, Ho TH, Alagrund K, Ridanpää M, Aittomäki K, Stenman J. Orpana AK, et al. Among authors: ridanpaa m. J Mol Diagn. 2013 Jan;15(1):110-5. doi: 10.1016/j.jmoldx.2012.07.004. Epub 2012 Nov 14. J Mol Diagn. 2013. PMID: 23159592 Free article.

2

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

3

Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene.

Kuijpers TW, Ridanpää M, Peters M, de Boer I, Vossen JM, Pals ST, Kaitila I, Hennekam RC. Kuijpers TW, et al. Among authors: ridanpaa m. J Med Genet. 2003 Oct;40(10):761-6. doi: 10.1136/jmg.40.10.761. J Med Genet. 2003. PMID: 14569125 Free PMC article. No abstract available.

4

Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia.

Ridanpää M, Ward LM, Rockas S, Särkioja M, Mäkelä H, Susic M, Glorieux FH, Cole WG, Mäkitie O. Ridanpää M, et al. J Med Genet. 2003 Oct;40(10):741-6. doi: 10.1136/jmg.40.10.741. J Med Genet. 2003. PMID: 14569119 Free PMC article.

5

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

6

Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP.

Ridanpää M, Sistonen P, Rockas S, Rimoin DL, Mäkitie O, Kaitila I. Ridanpää M, et al. Eur J Hum Genet. 2002 Jul;10(7):439-47. doi: 10.1038/sj.ejhg.5200824. Eur J Hum Genet. 2002. PMID: 12107819

7

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

8

Dynamic expression and nuclear accumulation of beta-catenin during the development of hair follicle-derived structures.

Ridanpää M, Fodde R, Kielman M. Ridanpää M, et al. Mech Dev. 2001 Dec;109(2):173-81. doi: 10.1016/s0925-4773(01)00563-9. Mech Dev. 2001. PMID: 11731231 Free article.

9

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.

10

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

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