Nylen E - Search Results

1

Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene.

Frosk P, Weiler T, Nylen E, Sudha T, Greenberg CR, Morgan K, Fujiwara TM, Wrogemann K. Frosk P, et al. Among authors: nylen e. Am J Hum Genet. 2002 Mar;70(3):663-72. doi: 10.1086/339083. Epub 2002 Jan 29. Am J Hum Genet. 2002. PMID: 11822024 Free PMC article.

2

A locus for Bowen-Conradi syndrome maps to chromosome region 12p13.3.

Lamont RE, Loredo-Osti J, Roslin NM, Mauthe J, Coghlan G, Nylen E, Frappier D, Innes AM, Lemire EG, Lowry RB, Greenberg CR, Triggs-Raine BL, Morgan K, Wrogemann K, Fujiwara TM, Zelinski T. Lamont RE, et al. Among authors: nylen e. Am J Med Genet A. 2005 Jan 15;132A(2):136-43. doi: 10.1002/ajmg.a.30420. Am J Med Genet A. 2005. PMID: 15578624

3

The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations.

Frosk P, Greenberg CR, Tennese AA, Lamont R, Nylen E, Hirst C, Frappier D, Roslin NM, Zaik M, Bushby K, Straub V, Zatz M, de Paula F, Morgan K, Fujiwara TM, Wrogemann K. Frosk P, et al. Among authors: nylen e. Hum Mutat. 2005 Jan;25(1):38-44. doi: 10.1002/humu.20110. Hum Mutat. 2005. PMID: 15580560

4

Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype.

Weiler T, Greenberg CR, Nylen E, Halliday W, Morgan K, Eggertson D, Wrogemann K. Weiler T, et al. Among authors: nylen e. Am J Hum Genet. 1996 Oct;59(4):872-8. Am J Hum Genet. 1996. PMID: 8808603 Free PMC article.

5

Limb girdle muscular dystrophy in Manitoba Hutterites does not map to any of the known LGMD loci.

Weiler T, Greenberg CR, Nylen E, Morgan K, Fujiwara TM, Crumley MJ, Zelinski T, Halliday W, Nickel B, Triggs-Raine B, Wrogemann K. Weiler T, et al. Among authors: nylen e. Am J Med Genet. 1997 Oct 31;72(3):363-8. doi: 10.1002/(sici)1096-8628(19971031)72:3<363::aid-ajmg22>3.0.co;2-q. Am J Med Genet. 1997. PMID: 9332671

6

A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus.

Weiler T, Greenberg CR, Zelinski T, Nylen E, Coghlan G, Crumley MJ, Fujiwara TM, Morgan K, Wrogemann K. Weiler T, et al. Among authors: nylen e. Am J Hum Genet. 1998 Jul;63(1):140-7. doi: 10.1086/301925. Am J Hum Genet. 1998. PMID: 9634523 Free PMC article.

7

Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s).

Weiler T, Bashir R, Anderson LV, Davison K, Moss JA, Britton S, Nylen E, Keers S, Vafiadaki E, Greenberg CR, Bushby CR, Wrogemann K. Weiler T, et al. Among authors: nylen e. Hum Mol Genet. 1999 May;8(5):871-7. doi: 10.1093/hmg/8.5.871. Hum Mol Genet. 1999. PMID: 10196377

8

Gene studies in newborn males with Duchenne muscular dystrophy detected by neonatal screening.

Greenberg CR, Rohringer M, Jacobs HK, Averill N, Nylen E, van Ommen GJ, Wrogemann K. Greenberg CR, et al. Among authors: nylen e. Lancet. 1988 Aug 20;2(8608):425-7. doi: 10.1016/s0140-6736(88)90414-x. Lancet. 1988. PMID: 2900355

9

Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy.

Illarioshkin SN, Ivanova-Smolenskaya IA, Greenberg CR, Nylen E, Sukhorukov VS, Poleshchuk VV, Markova ED, Wrogemann K. Illarioshkin SN, et al. Among authors: nylen e. Neurology. 2000 Dec 26;55(12):1931-3. doi: 10.1212/wnl.55.12.1931. Neurology. 2000. PMID: 11134403

10

Amber mutation creates a diagnostic MaeI site in the androgen receptor gene of a family with complete androgen insensitivity.

Trifiro M, Prior RL, Sabbaghian N, Pinsky L, Kaufman M, Nylen EG, Belsham DD, Greenberg CR, Wrogemann K. Trifiro M, et al. Among authors: nylen eg. Am J Med Genet. 1991 Sep 15;40(4):493-9. doi: 10.1002/ajmg.1320400425. Am J Med Genet. 1991. PMID: 1720929

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