Peltonen L - Search Results

1

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: peltonen l. Nat Genet. 1995 Oct;11(2):213-5. doi: 10.1038/ng1095-213. Nat Genet. 1995. PMID: 7550354

2

An autosomal locus predisposing to deletions of mitochondrial DNA.

Suomalainen A, Kaukonen J, Amati P, Timonen R, Haltia M, Weissenbach J, Zeviani M, Somer H, Peltonen L. Suomalainen A, et al. Among authors: peltonen l. Nat Genet. 1995 Feb;9(2):146-51. doi: 10.1038/ng0295-146. Nat Genet. 1995. PMID: 7719341

3

Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus.

Nikali K, Suomalainen A, Terwilliger J, Koskinen T, Weissenbach J, Peltonen L. Nikali K, et al. Among authors: peltonen l. Am J Hum Genet. 1995 May;56(5):1088-95. Am J Hum Genet. 1995. PMID: 7726163 Free PMC article.

4

Congenital nephrotic syndrome of the Finnish type maps to the long arm of chromosome 19.

Kestilä M, Männikkö M, Holmberg C, Gyapay G, Weissenbach J, Savolainen ER, Peltonen L, Tryggvason K. Kestilä M, et al. Among authors: peltonen l. Am J Hum Genet. 1994 May;54(5):757-64. Am J Hum Genet. 1994. PMID: 8178817 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: peltonen l. Am J Hum Genet. 1994 Jun;54(6):1042-9. Am J Hum Genet. 1994. PMID: 8198127 Free PMC article.

6

An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p.

Kaukonen JA, Amati P, Suomalainen A, Rötig A, Piscaglia MG, Salvi F, Weissenbach J, Fratta G, Comi G, Peltonen L, Zeviani M. Kaukonen JA, et al. Among authors: peltonen l. Am J Hum Genet. 1996 Apr;58(4):763-9. Am J Hum Genet. 1996. PMID: 8644740 Free PMC article.

7

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: peltonen l. Hum Genet. 1997 Nov;101(1):88-92. doi: 10.1007/s004390050592. Hum Genet. 1997. PMID: 9385376

8

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: peltonen l. Am J Hum Genet. 1999 Oct;65(4):1086-95. doi: 10.1086/302603. Am J Hum Genet. 1999. PMID: 10486328 Free PMC article.

9

Exclusion of the p75 neurotrophin receptor gene as a candidate gene for Meckel syndrome.

Wartiovaara K, Paavola P, Suvanto P, Paulin L, Saarma M, Peltonen L, Sariola H. Wartiovaara K, et al. Among authors: peltonen l. Clin Dysmorphol. 1997 Jul;6(3):213-7. doi: 10.1097/00019605-199707000-00003. Clin Dysmorphol. 1997. PMID: 9220190

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: peltonen l. 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

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