Scheffer H - Search Results

1

Transthyretin Val71Ala mutation in a Dutch family with familial amyloidotic polyneuropathy.

Haagsma EB, Scheffer H, Altland K, De Jager AE, Hazenberg BP. Haagsma EB, et al. Among authors: scheffer h. Amyloid. 2000 Sep;7(3):218-21. doi: 10.3109/13506120009146837. Amyloid. 2000. PMID: 11019863

2

Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations.

Schuilenga-Hut PH, Vlies Pv, Jonkman MF, Waanders E, Buys CH, Scheffer H. Schuilenga-Hut PH, et al. Among authors: scheffer h. Hum Mutat. 2003 Apr;21(4):447. doi: 10.1002/humu.9124. Hum Mutat. 2003. PMID: 12655565 Review.

3

Three novel KCNA1 mutations in episodic ataxia type I families.

Scheffer H, Brunt ER, Mol GJ, van der Vlies P, Stulp RP, Verlind E, Mantel G, Averyanov YN, Hofstra RM, Buys CH. Scheffer H, et al. Hum Genet. 1998 Apr;102(4):464-6. doi: 10.1007/s004390050722. Hum Genet. 1998. PMID: 9600245

4

Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot mutation analysis.

Hut PH, v d Vlies P, Jonkman MF, Verlind E, Shimizu H, Buys CH, Scheffer H. Hut PH, et al. Among authors: scheffer h. J Invest Dermatol. 2000 Apr;114(4):616-9. doi: 10.1046/j.1523-1747.2000.00928.x. J Invest Dermatol. 2000. PMID: 10733662 Free article.

5

Comprehensive and accurate mutation scanning of the CFTR gene by two-dimensional DNA electrophoresis.

Wu Y, Hofstra RM, Scheffer H, Uitterlinden AG, Mullaart E, Buys CH, Vijg J. Wu Y, et al. Among authors: scheffer h. Hum Mutat. 1996;8(2):160-7. doi: 10.1002/(SICI)1098-1004(1996)8:2<160::AID-HUMU8>3.0.CO;2-F. Hum Mutat. 1996. PMID: 8844214

6

Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. Mutations in brief no. 220. Online.

Rake JP, ten Berge AM, Verlind E, Visser G, Niezen-Koning KE, Buys CH, Smit GP, Scheffer H. Rake JP, et al. Among authors: scheffer h. Hum Mutat. 1999;13(2):173. doi: 10.1002/(sici)1098-1004(1999)13:2<173::aid-humu19>3.0.co;2-e. Hum Mutat. 1999. PMID: 10094563

7

Haplotype identity between individuals who share a CFTR mutation allele "identical by descent": demonstration of the usefulness of the haplotype-sharing concept for gene mapping in real populations.

de Vries HG, van der Meulen MA, Rozen R, Halley DJ, Scheffer H, ten Kate LP, Buys CH, te Meerman GJ. de Vries HG, et al. Among authors: scheffer h. Hum Genet. 1996 Sep;98(3):304-9. doi: 10.1007/s004390050211. Hum Genet. 1996. PMID: 8707298

8

Prevalence of carriers of the most common medium-chain acyl-CoA dehydrogenase (MCAD) deficiency mutation (G985A) in The Netherlands.

de Vries HG, Niezen-Koning K, Kliphuis JW, Smit GP, Scheffer H, ten Kate LP. de Vries HG, et al. Among authors: scheffer h. Hum Genet. 1996 Jul;98(1):1-2. doi: 10.1007/s004390050149. Hum Genet. 1996. PMID: 8682492

9

A novel mutation (G1249R) in exon 20 of the CFTR gene.

Dijkstra DJ, Scheffer H, Buys CH. Dijkstra DJ, et al. Among authors: scheffer h. Hum Mutat. 1994;4(2):161-2. doi: 10.1002/humu.1380040213. Hum Mutat. 1994. PMID: 7526929 No abstract available.

10

Partial revertant mosaicism of keratin 14 in a patient with recessive epidermolysis bullosa simplex.

Schuilenga-Hut PH, Scheffer H, Pas HH, Nijenhuis M, Buys CH, Jonkman MF. Schuilenga-Hut PH, et al. Among authors: scheffer h. J Invest Dermatol. 2002 Apr;118(4):626-30. doi: 10.1046/j.1523-1747.2002.01715.x. J Invest Dermatol. 2002. PMID: 11918708 Free article.

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