Schleutker J - Search Results

1

Linkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large Finnish kindred.

Pratt VM, Kiefer JR, Lähdetie J, Schleutker J, Hodes ME, Dlouhy SR. Pratt VM, et al. Among authors: schleutker j. Am J Hum Genet. 1993 Jun;52(6):1053-6. Am J Hum Genet. 1993. PMID: 7684886 Free PMC article.

2

Exclusion map of Salla disease: attempts to localize the disease gene using a computer program.

Haataja L, Schleutker J, Renlund M, Palotie A, Peltonen L, Aula P. Haataja L, et al. Among authors: schleutker j. Hum Genet. 1992 Jan;88(3):298-300. doi: 10.1007/BF00197263. Hum Genet. 1992. PMID: 1733832

3

Confirmation of the chromosomal localization of human lamp genes and their exclusion as candidate genes for Salla disease.

Schleutker J, Haataja L, Renlund M, Puhakka L, Viitala J, Peltonen L, Aula P. Schleutker J, et al. Hum Genet. 1991 Nov;88(1):95-7. doi: 10.1007/BF00204936. Hum Genet. 1991. PMID: 1959930

4

Lysosomal free sialic acid storage disorders with different phenotypic presentations--infantile-form sialic acid storage disease and Salla disease--represent allelic disorders on 6q14-15.

Schleutker J, Leppänen P, Månsson JE, Erikson A, Weissenbach J, Peltonen L, Aula P. Schleutker J, et al. Am J Hum Genet. 1995 Oct;57(4):893-901. Am J Hum Genet. 1995. PMID: 7573051 Free PMC article.

5

The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6.

Haataja L, Schleutker J, Laine AP, Renlund M, Savontaus ML, Dib C, Weissenbach J, Peltonen L, Aula P. Haataja L, et al. Among authors: schleutker j. Am J Hum Genet. 1994 Jun;54(6):1042-9. Am J Hum Genet. 1994. PMID: 8198127 Free PMC article.

6

Germline alterations of the RNASEL gene, a candidate HPC1 gene at 1q25, in patients and families with prostate cancer.

Rökman A, Ikonen T, Seppälä EH, Nupponen N, Autio V, Mononen N, Bailey-Wilson J, Trent J, Carpten J, Matikainen MP, Koivisto PA, Tammela TL, Kallioniemi OP, Schleutker J. Rökman A, et al. Among authors: schleutker j. Am J Hum Genet. 2002 May;70(5):1299-304. doi: 10.1086/340450. Epub 2002 Apr 8. Am J Hum Genet. 2002. PMID: 11941539 Free PMC article.

7

Hereditary prostate cancer in Finland: fine-mapping validates 3p26 as a major predisposition locus.

Rökman A, Baffoe-Bonnie AB, Gillanders E, Fredriksson H, Autio V, Ikonen T, Gibbs KD Jr, Jones M, Gildea D, Freas-Lutz D, Markey C, Matikainen MP, Koivisto PA, Tammela TL, Kallioniemi OP, Trent J, Bailey-Wilson JE, Schleutker J. Rökman A, et al. Among authors: schleutker j. Hum Genet. 2005 Jan;116(1-2):43-50. doi: 10.1007/s00439-004-1214-7. Epub 2004 Nov 11. Hum Genet. 2005. PMID: 15549392

8

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants.

Ioannidis NM, Rothstein JH, Pejaver V, Middha S, McDonnell SK, Baheti S, Musolf A, Li Q, Holzinger E, Karyadi D, Cannon-Albright LA, Teerlink CC, Stanford JL, Isaacs WB, Xu J, Cooney KA, Lange EM, Schleutker J, Carpten JD, Powell IJ, Cussenot O, Cancel-Tassin G, Giles GG, MacInnis RJ, Maier C, Hsieh CL, Wiklund F, Catalona WJ, Foulkes WD, Mandal D, Eeles RA, Kote-Jarai Z, Bustamante CD, Schaid DJ, Hastie T, Ostrander EA, Bailey-Wilson JE, Radivojac P, Thibodeau SN, Whittemore AS, Sieh W. Ioannidis NM, et al. Among authors: schleutker j. Am J Hum Genet. 2016 Oct 6;99(4):877-885. doi: 10.1016/j.ajhg.2016.08.016. Epub 2016 Sep 22. Am J Hum Genet. 2016. PMID: 27666373 Free PMC article.

9

Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1.

Järvelä I, Schleutker J, Haataja L, Santavuori P, Puhakka L, Manninen T, Palotie A, Sandkuijl LA, Renlund M, White R, et al. Järvelä I, et al. Among authors: schleutker j. Genomics. 1991 Jan;9(1):170-3. doi: 10.1016/0888-7543(91)90235-7. Genomics. 1991. PMID: 1672288

10

Evidence for a prostate cancer susceptibility locus on the X chromosome.

Xu J, Meyers D, Freije D, Isaacs S, Wiley K, Nusskern D, Ewing C, Wilkens E, Bujnovszky P, Bova GS, Walsh P, Isaacs W, Schleutker J, Matikainen M, Tammela T, Visakorpi T, Kallioniemi OP, Berry R, Schaid D, French A, McDonnell S, Schroeder J, Blute M, Thibodeau S, Grönberg H, Emanuelsson M, Damber JE, Bergh A, Jonsson BA, Smith J, Bailey-Wilson J, Carpten J, Stephan D, Gillanders E, Amundson I, Kainu T, Freas-Lutz D, Baffoe-Bonnie A, Van Aucken A, Sood R, Collins F, Brownstein M, Trent J. Xu J, et al. Among authors: schleutker j. Nat Genet. 1998 Oct;20(2):175-9. doi: 10.1038/2477. Nat Genet. 1998. PMID: 9771711

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