Wallgren-Pettersson C - Search Results

1

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.

2

Exclusion of two candidate loci for autosomal recessive nemaline myopathy.

Tahvanainen E, Beggs AH, Wallgren-Pettersson C. Tahvanainen E, et al. J Med Genet. 1994 Jan;31(1):79-80. doi: 10.1136/jmg.31.1.79. J Med Genet. 1994. PMID: 8151647 Free PMC article.

3

The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies.

Wallgren-Pettersson C, Clarke A, Samson F, Fardeau M, Dubowitz V, Moser H, Grimm T, Barohn RJ, Barth PG. Wallgren-Pettersson C, et al. J Med Genet. 1995 Sep;32(9):673-9. doi: 10.1136/jmg.32.9.673. J Med Genet. 1995. PMID: 8544184 Free PMC article. Review.

4

A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis.

Wallgren-Pettersson C, Avela K, Marchand S, Kolehmainen J, Tahvanainen E, Hansen FJ, Muntoni F, Dubowitz V, De Visser M, Van Langen IM, et al. Wallgren-Pettersson C, et al. Neuromuscul Disord. 1995 Nov;5(6):441-3. doi: 10.1016/0960-8966(95)00022-f. Neuromuscul Disord. 1995. PMID: 8580725

5

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.

Pelin K, Hilpelä P, Donner K, Sewry C, Akkari PA, Wilton SD, Wattanasirichaigoon D, Bang ML, Centner T, Hanefeld F, Odent S, Fardeau M, Urtizberea JA, Muntoni F, Dubowitz V, Beggs AH, Laing NG, Labeit S, de la Chapelle A, Wallgren-Pettersson C. Pelin K, et al. Proc Natl Acad Sci U S A. 1999 Mar 2;96(5):2305-10. doi: 10.1073/pnas.96.5.2305. Proc Natl Acad Sci U S A. 1999. PMID: 10051637 Free PMC article.

6

Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy.

Wallgren-Pettersson C, Pelin K, Hilpelä P, Donner K, Porfirio B, Graziano C, Swoboda KJ, Fardeau M, Urtizberea JA, Muntoni F, Sewry C, Dubowitz V, Iannaccone S, Minetti C, Pedemonte M, Seri M, Cusano R, Lammens M, Castagna-Sloane A, Beggs AH, Laing NG, de la Chapelle A. Wallgren-Pettersson C, et al. Neuromuscul Disord. 1999 Dec;9(8):564-72. doi: 10.1016/s0960-8966(99)00061-9. Neuromuscul Disord. 1999. PMID: 10619714

7

Founder effect in spinal and bulbar muscular atrophy (SBMA) in Scandinavia.

Lund A, Udd B, Juvonen V, Andersen PM, Cederquist K, Ronnevi LO, Sistonen P, Sörensen SA, Tranebjaerg L, Wallgren-Pettersson C, Savontaus ML. Lund A, et al. Eur J Hum Genet. 2000 Aug;8(8):631-6. doi: 10.1038/sj.ejhg.5200517. Eur J Hum Genet. 2000. PMID: 10951525

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

9

A commentary on identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness.

Pelin K, Kiiski K, Lehtokari VL, Wallgren-Pettersson C. Pelin K, et al. J Hum Genet. 2015 Mar;60(3):161-2. doi: 10.1038/jhg.2014.120. Epub 2015 Jan 15. J Hum Genet. 2015. PMID: 25589043 No abstract available.

10

A novel MPLKIP-variant in three Finnish patients with non-photosensitive trichothiodystrophy type 4.

Strang-Karlsson S, von Willebrand M, Avela K, Wallgren-Pettersson C. Strang-Karlsson S, et al. Am J Med Genet A. 2021 Jun;185(6):1875-1882. doi: 10.1002/ajmg.a.62168. Epub 2021 Mar 17. Am J Med Genet A. 2021. PMID: 33729667

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