Salonen R - Search Results

1

Assignment of the locus for hydrolethalus syndrome to a highly restricted region on 11q23-25.

Visapää I, Salonen R, Varilo T, Paavola P, Peltonen L. Visapää I, et al. Among authors: salonen r. Am J Hum Genet. 1999 Oct;65(4):1086-95. doi: 10.1086/302603. Am J Hum Genet. 1999. PMID: 10486328 Free PMC article.

2

Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1.

Mee L, Honkala H, Kopra O, Vesa J, Finnilä S, Visapää I, Sang TK, Jackson GR, Salonen R, Kestilä M, Peltonen L. Mee L, et al. Among authors: salonen r. Hum Mol Genet. 2005 Jun 1;14(11):1475-88. doi: 10.1093/hmg/ddi157. Epub 2005 Apr 20. Hum Mol Genet. 2005. PMID: 15843405

3

Clinical and genetic heterogeneity in Meckel syndrome.

Paavola P, Salonen R, Baumer A, Schinzel A, Boyd PA, Gould S, Meusburger H, Tenconi R, Barnicoat A, Winter R, Peltonen L. Paavola P, et al. Among authors: salonen r. Hum Genet. 1997 Nov;101(1):88-92. doi: 10.1007/s004390050592. Hum Genet. 1997. PMID: 9385376

4

Meckel syndrome.

Salonen R, Paavola P. Salonen R, et al. J Med Genet. 1998 Jun;35(6):497-501. doi: 10.1136/jmg.35.6.497. J Med Genet. 1998. PMID: 9643292 Free PMC article. Review.

5

The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24.

Paavola P, Salonen R, Weissenbach J, Peltonen L. Paavola P, et al. Among authors: salonen r. Nat Genet. 1995 Oct;11(2):213-5. doi: 10.1038/ng1095-213. Nat Genet. 1995. PMID: 7550354

6

Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle.

Tallila J, Jakkula E, Peltonen L, Salonen R, Kestilä M. Tallila J, et al. Among authors: salonen r. Am J Hum Genet. 2008 Jun;82(6):1361-7. doi: 10.1016/j.ajhg.2008.05.004. Am J Hum Genet. 2008. PMID: 18513680 Free PMC article.

7

Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?

Tallila J, Salonen R, Kohlschmidt N, Peltonen L, Kestilä M. Tallila J, et al. Among authors: salonen r. Hum Mutat. 2009 Aug;30(8):E813-30. doi: 10.1002/humu.21057. Hum Mutat. 2009. PMID: 19466712 Free PMC article.

8

A balanced translocation truncates Neurotrimin in a family with intracranial and thoracic aortic aneurysm.

Luukkonen TM, Pöyhönen M, Palotie A, Ellonen P, Lagström S, Lee JH, Terwilliger JD, Salonen R, Varilo T. Luukkonen TM, et al. Among authors: salonen r. J Med Genet. 2012 Oct;49(10):621-9. doi: 10.1136/jmedgenet-2012-100977. J Med Genet. 2012. PMID: 23054244 Free PMC article.

9

Improved prenatal diagnosis of the congenital nephrotic syndrome of the Finnish type based on DNA analysis.

Männikkö M, Kestilä M, Lenkkeri U, Alakurtti H, Holmberg C, Leisti J, Salonen R, Aula P, Mustonen A, Peltonen L, Tryggvason K. Männikkö M, et al. Among authors: salonen r. Kidney Int. 1997 Mar;51(3):868-72. doi: 10.1038/ki.1997.122. Kidney Int. 1997. PMID: 9067923 Free article.

10

Prenatal diagnosis and carrier detection in fragile X.

von Koskull H, Nordström AM, Salonen R, Peltonen L. von Koskull H, et al. Among authors: salonen r. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):174-80. doi: 10.1002/ajmg.1320430129. Am J Med Genet. 1992. PMID: 1605189

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

317 results

Search Page

Filters