Kaitila I - Search Results

1

A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia.

Bellus GA, McIntosh I, Smith EA, Aylsworth AS, Kaitila I, Horton WA, Greenhaw GA, Hecht JT, Francomano CA. Bellus GA, et al. Among authors: kaitila i. Nat Genet. 1995 Jul;10(3):357-9. doi: 10.1038/ng0795-357. Nat Genet. 1995. PMID: 7670477

2

Achondroplasia is defined by recurrent G380R mutations of FGFR3.

Bellus GA, Hefferon TW, Ortiz de Luna RI, Hecht JT, Horton WA, Machado M, Kaitila I, McIntosh I, Francomano CA. Bellus GA, et al. Among authors: kaitila i. Am J Hum Genet. 1995 Feb;56(2):368-73. Am J Hum Genet. 1995. PMID: 7847369 Free PMC article.

3

Hypochondroplasia: molecular analysis of the fibroblast growth factor receptor 3 gene.

Bellus GA, McIntosh I, Szabo J, Aylsworth A, Kaitila I, Francomano CA. Bellus GA, et al. Among authors: kaitila i. Ann N Y Acad Sci. 1996 Jun 8;785:182-7. doi: 10.1111/j.1749-6632.1996.tb56257.x. Ann N Y Acad Sci. 1996. PMID: 8702125 Review. No abstract available.

4

Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome.

Wilkin DJ, Szabo JK, Cameron R, Henderson S, Bellus GA, Mack ML, Kaitila I, Loughlin J, Munnich A, Sykes B, Bonaventure J, Francomano CA. Wilkin DJ, et al. Among authors: kaitila i. Am J Hum Genet. 1998 Sep;63(3):711-6. doi: 10.1086/302000. Am J Hum Genet. 1998. PMID: 9718331 Free PMC article.

5

Mutation analysis of LMX1B gene in nail-patella syndrome patients.

McIntosh I, Dreyer SD, Clough MV, Dunston JA, Eyaid W, Roig CM, Montgomery T, Ala-Mello S, Kaitila I, Winterpacht A, Zabel B, Frydman M, Cole WG, Francomano CA, Lee B. McIntosh I, et al. Among authors: kaitila i. Am J Hum Genet. 1998 Dec;63(6):1651-8. doi: 10.1086/302165. Am J Hum Genet. 1998. PMID: 9837817 Free PMC 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. 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

7

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.

8

High-resolution genetic mapping of the cartilage-hair hypoplasia (CHH) gene in Amish and Finnish families.

Sulisalo T, Francomano CA, Sistonen P, Maher JF, McKusick VA, de la Chapelle A, Kaitila I. Sulisalo T, et al. Among authors: kaitila i. Genomics. 1994 Apr;20(3):347-53. doi: 10.1006/geno.1994.1187. Genomics. 1994. PMID: 8034306 Free article.

9

Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis.

Sulisalo T, Sistonen P, Hästbacka J, Wadelius C, Mäkitie O, de la Chapelle A, Kaitila I. Sulisalo T, et al. Among authors: kaitila i. Nat Genet. 1993 Apr;3(4):338-41. doi: 10.1038/ng0493-338. Nat Genet. 1993. PMID: 7981754

10

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

Boerkoel CF, Takashima H, John J, Yan J, Stankiewicz P, Rosenbarker L, André JL, Bogdanovic R, Burguet A, Cockfield S, Cordeiro I, Fründ S, Illies F, Joseph M, Kaitila I, Lama G, Loirat C, McLeod DR, Milford DV, Petty EM, Rodrigo F, Saraiva JM, Schmidt B, Smith GC, Spranger J, Stein A, Thiele H, Tizard J, Weksberg R, Lupski JR, Stockton DW. Boerkoel CF, et al. Among authors: kaitila i. Nat Genet. 2002 Feb;30(2):215-20. doi: 10.1038/ng821. Epub 2002 Jan 22. Nat Genet. 2002. PMID: 11799392

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