Kaitila I - Search Results

1

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: kaitila i. 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.

2

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

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

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

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. 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.

6

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: kaitila i. Genomics. 1999 Aug 1;59(3):319-25. doi: 10.1006/geno.1999.5883. Genomics. 1999. PMID: 10444333

7

Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.

Hoornaert KP, Vereecke I, Dewinter C, Rosenberg T, Beemer FA, Leroy JG, Bendix L, Björck E, Bonduelle M, Boute O, Cormier-Daire V, De Die-Smulders C, Dieux-Coeslier A, Dollfus H, Elting M, Green A, Guerci VI, Hennekam RC, Hilhorts-Hofstee Y, Holder M, Hoyng C, Jones KJ, Josifova D, Kaitila I, Kjaergaard S, Kroes YH, Lagerstedt K, Lees M, Lemerrer M, Magnani C, Marcelis C, Martorell L, Mathieu M, McEntagart M, Mendicino A, Morton J, Orazio G, Paquis V, Reish O, Simola KO, Smithson SF, Temple KI, Van Aken E, Van Bever Y, van den Ende J, Van Hagen JM, Zelante L, Zordania R, De Paepe A, Leroy BP, De Buyzere M, Coucke PJ, Mortier GR. Hoornaert KP, et al. Among authors: kaitila i. Eur J Hum Genet. 2010 Aug;18(8):872-80. doi: 10.1038/ejhg.2010.23. Epub 2010 Feb 24. Eur J Hum Genet. 2010. PMID: 20179744 Free PMC article.

8

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.

9

Apparently new syndrome of short stature, lumbar malsegmentation, and minor facial anomalies in two brothers.

Leipälä JA, Kaitila I. Leipälä JA, et al. Among authors: kaitila i. Am J Med Genet. 1994 Aug 1;52(1):103-7. doi: 10.1002/ajmg.1320520120. Am J Med Genet. 1994. PMID: 7977451

10

Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia.

Baradaran-Heravi A, Thiel C, Rauch A, Zenker M, Boerkoel CF, Kaitila I. Baradaran-Heravi A, et al. Among authors: kaitila i. Am J Med Genet A. 2008 Aug 1;146A(15):2013-7. doi: 10.1002/ajmg.a.32406. Am J Med Genet A. 2008. PMID: 18627050 Free PMC article. No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

156 results

Search Page