Avela K - Search Results

1

Genetic evidence of heterogeneity in intrahepatic cholestasis of pregnancy.

Savander M, Ropponen A, Avela K, Weerasekera N, Cormand B, Hirvioja ML, Riikonen S, Ylikorkala O, Lehesjoki AE, Williamson C, Aittomäki K. Savander M, et al. Among authors: avela k. Gut. 2003 Jul;52(7):1025-9. doi: 10.1136/gut.52.7.1025. Gut. 2003. PMID: 12801961 Free PMC article.

2

17 beta-estradiol stimulates prostacyclin, but not endothelin-1, production in human vascular endothelial cells.

Mikkola T, Turunen P, Avela K, Orpana A, Viinikka L, Ylikorkala O. Mikkola T, et al. Among authors: avela k. J Clin Endocrinol Metab. 1995 Jun;80(6):1832-6. doi: 10.1210/jcem.80.6.7775630. J Clin Endocrinol Metab. 1995. PMID: 7775630

3

The calcium-dependent nitric oxide production of human vascular endothelial cells in preeclampsia.

Orpana AK, Avela K, Ranta V, Viinikka L, Ylikorkala O. Orpana AK, et al. Among authors: avela k. Am J Obstet Gynecol. 1996 Mar;174(3):1056-60. doi: 10.1016/s0002-9378(96)70350-2. Am J Obstet Gynecol. 1996. PMID: 8633636

4

Assignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysis.

Avela K, Lipsanen-Nyman M, Perheentupa J, Wallgren-Pettersson C, Marchand S, Fauré S, Sistonen P, de la Chapelle A, Lehesjoki AE. Avela K, et al. Am J Hum Genet. 1997 Apr;60(4):896-902. Am J Hum Genet. 1997. PMID: 9106536 Free PMC article.

5

Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping.

Cormand B, Avela K, Pihko H, Santavuori P, Talim B, Topaloglu H, de la Chapelle A, Lehesjoki AE. Cormand B, et al. Among authors: avela k. Am J Hum Genet. 1999 Jan;64(1):126-35. doi: 10.1086/302206. Am J Hum Genet. 1999. PMID: 9915951 Free PMC article.

6

High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23.

Paavola P, Avela K, Horelli-Kuitunen N, Bärlund M, Kallioniemi A, Idänheimo N, Kyttälä M, de la Chapelle A, Palotie A, Lehesjoki AE, Peltonen L. Paavola P, et al. Among authors: avela k. Genome Res. 1999 Mar;9(3):267-76. Genome Res. 1999. PMID: 10077533 Free PMC article.

7

Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism.

Avela K, Lipsanen-Nyman M, Idänheimo N, Seemanová E, Rosengren S, Mäkelä TP, Perheentupa J, Chapelle AD, Lehesjoki AE. Avela K, et al. Nat Genet. 2000 Jul;25(3):298-301. doi: 10.1038/77053. Nat Genet. 2000. PMID: 10888877

8

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: avela k. Int J Cancer. 2009 May 15;124(10):2333-40. doi: 10.1002/ijc.24230. Int J Cancer. 2009. PMID: 19173287 Free article.

9

A founder mutation in CERKL is a major cause of retinal dystrophy in Finland.

Avela K, Sankila EM, Seitsonen S, Kuuluvainen L, Barton S, Gillies S, Aittomäki K. Avela K, et al. Acta Ophthalmol. 2018 Mar;96(2):183-191. doi: 10.1111/aos.13551. Epub 2017 Oct 25. Acta Ophthalmol. 2018. PMID: 29068140 Free article.

10

Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome.

Hakonen AH, Lehtonen J, Kivirikko S, Keski-Filppula R, Moilanen J, Kivisaari R, Almusa H, Jakkula E, Saarela J, Avela K, Aittomäki K. Hakonen AH, et al. Among authors: avela k. Am J Med Genet A. 2020 Nov;182(11):2605-2610. doi: 10.1002/ajmg.a.61836. Epub 2020 Sep 9. Am J Med Genet A. 2020. PMID: 32902138

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

40 results

Search Page