De Jonghe P - Search Results

1

Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies.

Peeters K, Bervoets S, Chamova T, Litvinenko I, De Vriendt E, Bichev S, Kancheva D, Mitev V, Kennerson M, Timmerman V, De Jonghe P, Tournev I, MacMillan J, Jordanova A. Peeters K, et al. Among authors: de jonghe p, de vriendt e. Hum Mutat. 2015 Mar;36(3):287-91. doi: 10.1002/humu.22744. Hum Mutat. 2015. PMID: 25512093

2

Linkage analysis of distal hereditary motor neuropathy type II (distal HMN II) in a single pedigree.

Timmerman V, Raeymaekers P, Nelis E, De Jonghe P, Muylle L, Ceuterick C, Martin JJ, Van Broeckhoven C. Timmerman V, et al. Among authors: de jonghe p. J Neurol Sci. 1992 May;109(1):41-8. doi: 10.1016/0022-510x(92)90091-x. J Neurol Sci. 1992. PMID: 1517763

3

Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group.

Raeymaekers P, Timmerman V, Nelis E, Van Hul W, De Jonghe P, Martin JJ, Van Broeckhoven C. Raeymaekers P, et al. Among authors: de jonghe p. J Med Genet. 1992 Jan;29(1):5-11. doi: 10.1136/jmg.29.1.5. J Med Genet. 1992. PMID: 1552545 Free PMC article.

4

Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group.

Raeymaekers P, Timmerman V, Nelis E, De Jonghe P, Hoogendijk JE, Baas F, Barker DF, Martin JJ, De Visser M, Bolhuis PA, et al. Raeymaekers P, et al. Among authors: de jonghe p, de visser m. Neuromuscul Disord. 1991;1(2):93-7. doi: 10.1016/0960-8966(91)90055-w. Neuromuscul Disord. 1991. PMID: 1822787

5

Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12.

Timmerman V, Raeymaekers P, De Jonghe P, De Winter G, Swerts L, Jacobs K, Gheuens J, Martin JJ, Vandenberghe A, Van Broeckhoven C. Timmerman V, et al. Among authors: de jonghe p, de winter g. Am J Hum Genet. 1990 Oct;47(4):680-5. Am J Hum Genet. 1990. PMID: 2220808 Free PMC article.

6

Localization of the mutation in an extended family with Charcot-Marie-Tooth neuropathy (HMSN I).

Raeymaekers P, Timmerman V, De Jonghe P, Swerts L, Gheuens J, Martin JJ, Muylle L, De Winter G, Vandenberghe A, Van Broeckhoven C. Raeymaekers P, et al. Among authors: de jonghe p, de winter g. Am J Hum Genet. 1989 Dec;45(6):953-8. Am J Hum Genet. 1989. PMID: 2589322 Free PMC article.

7

Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene.

Nelis E, Timmerman V, De Jonghe P, Vandenberghe A, Pham-Dinh D, Dautigny A, Martin JJ, Van Broeckhoven C. Nelis E, et al. Among authors: de jonghe p. Hum Genet. 1994 Dec;94(6):653-7. doi: 10.1007/BF00206959. Hum Genet. 1994. PMID: 7527371

8

Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.

Nelis E, Timmerman V, De Jonghe P, Muylle L, Martin JJ, Van Broeckhoven C. Nelis E, et al. Among authors: de jonghe p. J Med Genet. 1994 Oct;31(10):811-5. doi: 10.1136/jmg.31.10.811. J Med Genet. 1994. PMID: 7530774 Free PMC article.

9

Identification of a 5' splice site mutation in the PMP-22 gene in autosomal dominant Charcot-Marie-Tooth disease type 1.

Nelis E, Timmerman V, De Jonghe P, Van Broeckhoven C. Nelis E, et al. Among authors: de jonghe p. Hum Mol Genet. 1994 Mar;3(3):515-6. doi: 10.1093/hmg/3.3.515. Hum Mol Genet. 1994. PMID: 8012365 No abstract available.

10

Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP).

Timmerman V, Löfgren A, Le Guern E, Liang P, De Jonghe P, Martin JJ, Verhalle D, Robberecht W, Gouider R, Brice A, Van Broeckhoven C. Timmerman V, et al. Among authors: de jonghe p. Hum Genet. 1996 Jan;97(1):26-34. doi: 10.1007/BF00218828. Hum Genet. 1996. PMID: 8557256

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