Kneppers AL - Search Results

1

First-trimester prenatal diagnosis in twin pregnancies.

Christiaens GC, Oosterwijk JC, Stigter RH, Deutz-Terlouw PP, Kneppers AL, Bakker E. Christiaens GC, et al. Among authors: kneppers al. Prenat Diagn. 1994 Jan;14(1):51-5. doi: 10.1002/pd.1970140109. Prenat Diagn. 1994. PMID: 8183837

2

Point mutation screening for 16 exons of the dystrophin gene by multiplex single-strand conformation polymorphism analysis.

Kneppers AL, Deutz-Terlouw PP, den Dunnen JT, van Ommen GJ, Bakker E. Kneppers AL, et al. Hum Mutat. 1995;5(3):235-42. doi: 10.1002/humu.1380050308. Hum Mutat. 1995. PMID: 7599634

3

Duchenne and Becker muscular dystrophy.

Kneppers AL, Ginjaar IB, Bakker E. Kneppers AL, et al. Methods Mol Med. 2004;92:311-41. doi: 10.1385/1-59259-432-8:311. Methods Mol Med. 2004. PMID: 14733319 No abstract available.

4

The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.

van Essen AJ, Kneppers AL, van der Hout AH, Scheffer H, Ginjaar IB, ten Kate LP, van Ommen GJ, Buys CH, Bakker E. van Essen AJ, et al. Among authors: kneppers al. J Med Genet. 1997 Oct;34(10):805-12. doi: 10.1136/jmg.34.10.805. J Med Genet. 1997. PMID: 9350811 Free PMC article.

5

Somatic mosaicism of a point mutation in the dystrophin gene in a patient presenting with an asymmetrical muscle weakness and contractures.

Helderman-van den Enden AT, Ginjaar HB, Kneppers AL, Bakker E, Breuning MH, de Visser M. Helderman-van den Enden AT, et al. Among authors: kneppers al. Neuromuscul Disord. 2003 May;13(4):317-21. doi: 10.1016/s0960-8966(02)00285-7. Neuromuscul Disord. 2003. PMID: 12868501

6

Diagnosis of Duchenne and Becker muscular dystrophies by polymerase chain reaction. A multicenter study.

Chamberlain JS, Chamberlain JR, Fenwick RG, Ward PA, Caskey CT, Dimnik LS, Bech-Hansen NT, Hoar DI, Richards S, Covone AE, Govanni R, Abbs S, Bentley DR, Bobrow M, Rysiecki G, Ray PN, Boileau C, Junien C, Boehm C, Venne VL, Fujmura FK, Spiga I, Ferrari M, Tedeschi S, Bakker E, Kneppers AL, van Ommen GJ, Jain K, Spector E, Crandall B, Kiuru A, Savontaus ML, Caskey CT, Chamberlain JS, Chamberlain JR, Rysiecki G. Chamberlain JS, et al. Among authors: kneppers al. JAMA. 1992 May 20;267(19):2609-15. doi: 10.1001/jama.1992.03480190051030. JAMA. 1992. PMID: 1573747 Clinical Trial.

7

Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation family.

Ausems MG, Bakker E, Berger R, Duran M, van Diggelen OP, Keulemans JL, de Valk HW, Kneppers AL, Dorland L, Eskes PF, Beemer FA, Poll-The BT, Smeitink JA. Ausems MG, et al. Among authors: kneppers al. Am J Med Genet. 1997 Jan 20;68(2):236-9. Am J Med Genet. 1997. PMID: 9028466 Free article.

8

Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group.

Oberstein SA, Ferrari MD, Bakker E, van Gestel J, Kneppers AL, Frants RR, Breuning MH, Haan J. Oberstein SA, et al. Among authors: kneppers al. Neurology. 1999 Jun 10;52(9):1913-5. doi: 10.1212/wnl.52.9.1913. Neurology. 1999. PMID: 10371548

9

Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family.

Ginjaar IB, Kneppers AL, v d Meulen JD, Anderson LV, Bremmer-Bout M, van Deutekom JC, Weegenaar J, den Dunnen JT, Bakker E. Ginjaar IB, et al. Among authors: kneppers al. Eur J Hum Genet. 2000 Oct;8(10):793-6. doi: 10.1038/sj.ejhg.5200535. Eur J Hum Genet. 2000. PMID: 11039581

10

Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk.

Passos-Bueno MR, Bakker E, Kneppers AL, Takata RI, Rapaport D, den Dunnen JT, Zatz M, van Ommen GJ. Passos-Bueno MR, et al. Among authors: kneppers al. Am J Hum Genet. 1992 Nov;51(5):1150-5. Am J Hum Genet. 1992. PMID: 1415256 Free PMC article.

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