Kaitila I - Search Results

1

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. Among authors: kaitila i. Cell. 2001 Jan 26;104(2):195-203. doi: 10.1016/s0092-8674(01)00205-7. Cell. 2001. PMID: 11207361 Free article.

2

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. Among authors: kaitila i. Eur J Hum Genet. 2002 Jul;10(7):439-47. doi: 10.1038/sj.ejhg.5200824. Eur J Hum Genet. 2002. PMID: 12107819

3

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: kaitila i. Eur J Hum Genet. 1997 Jan-Feb;5(1):35-42. Eur J Hum Genet. 1997. PMID: 9156319

4

Increased mortality in cartilage-hair hypoplasia.

Mäkitie O, Pukkala E, Kaitila I. Mäkitie O, et al. Among authors: kaitila i. Arch Dis Child. 2001 Jan;84(1):65-67. doi: 10.1136/adc.84.1.65. Arch Dis Child. 2001. PMID: 11124791 Free PMC article.

5

Growth in cartilage-hair hypoplasia.

Mäkitie O, Perheentupa J, Kaitila I. Mäkitie O, et al. Among authors: kaitila i. Pediatr Res. 1992 Feb;31(2):176-80. doi: 10.1203/00006450-199202000-00018. Pediatr Res. 1992. PMID: 1542548

6

Cartilage-hair hypoplasia.

Mäkitie O, Sulisalo T, de la Chapelle A, Kaitila I. Mäkitie O, et al. Among authors: kaitila i. J Med Genet. 1995 Jan;32(1):39-43. doi: 10.1136/jmg.32.1.39. J Med Genet. 1995. PMID: 7897625 Free PMC article. Review. No abstract available.

7

Hirschsprung's disease in cartilage-hair hypoplasia has poor prognosis.

Mäkitie O, Heikkinen M, Kaitila I, Rintala R. Mäkitie O, et al. Among authors: kaitila i. J Pediatr Surg. 2002 Nov;37(11):1585-8. doi: 10.1053/jpsu.2002.36189. J Pediatr Surg. 2002. PMID: 12407544

8

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. Among authors: kaitila i. 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

9

Extended follow-up of the Finnish cartilage-hair hypoplasia cohort confirms high incidence of non-Hodgkin lymphoma and basal cell carcinoma.

Taskinen M, Ranki A, Pukkala E, Jeskanen L, Kaitila I, Mäkitie O. Taskinen M, et al. Among authors: kaitila i. Am J Med Genet A. 2008 Sep 15;146A(18):2370-5. doi: 10.1002/ajmg.a.32478. Am J Med Genet A. 2008. PMID: 18698627

10

High-resolution linkage-disequilibrium mapping of the cartilage-hair hypoplasia gene.

Sulisalo T, Klockars J, Mäkitie O, Francomano CA, de la Chapelle A, Kaitila I, Sistonen P. Sulisalo T, et al. Among authors: kaitila i. Am J Hum Genet. 1994 Nov;55(5):937-45. Am J Hum Genet. 1994. PMID: 7977356 Free PMC article.

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