Kleijer WJ - Search Results

1

Tønnesen T, Kleijer WJ, Horn N. Tønnesen T, et al. Among authors: kleijer wj. Hum Genet. 1991 Feb;86(4):408-10. doi: 10.1007/BF00201846. Hum Genet. 1991. PMID: 1999344

2

Molecular analysis of patients with Hunter syndrome: implication of a region prone to structural alterations within the IDS gene.

Steén-Bondeson ML, Dahl N, Tönnesen T, Kleijer WJ, Seidlitz G, Gustavson KH, Wilson PJ, Morris CP, Hopwood JJ, Pettersson U. Steén-Bondeson ML, et al. Among authors: kleijer wj. Hum Mol Genet. 1992 Jun;1(3):195-8. doi: 10.1093/hmg/1.3.195. Hum Mol Genet. 1992. PMID: 1303177

3

Genotype-phenotype relationship in various degrees of arylsulfatase A deficiency.

Kappler J, Leinekugel P, Conzelmann E, Kleijer WJ, Kohlschütter A, Tønnesen T, Rochel M, Freycon F, Propping P. Kappler J, et al. Among authors: kleijer wj. Hum Genet. 1991 Mar;86(5):463-70. doi: 10.1007/BF00194634. Hum Genet. 1991. PMID: 1673113

4

Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome.

Bondeson ML, Dahl N, Malmgren H, Kleijer WJ, Tönnesen T, Carlberg BM, Pettersson U. Bondeson ML, et al. Among authors: kleijer wj. Hum Mol Genet. 1995 Apr;4(4):615-21. doi: 10.1093/hmg/4.4.615. Hum Mol Genet. 1995. PMID: 7633410

5

Double-strand breaks may initiate the inversion mutation causing the Hunter syndrome.

Lagerstedt K, Karsten SL, Carlberg BM, Kleijer WJ, Tönnesen T, Pettersson U, Bondeson ML. Lagerstedt K, et al. Among authors: kleijer wj. Hum Mol Genet. 1997 Apr;6(4):627-33. doi: 10.1093/hmg/6.4.627. Hum Mol Genet. 1997. PMID: 9097969

6

Fibroblast silver loading for the diagnosis of Menkes disease.

Verheijen FW, Beerens CE, Havelaar AC, Kleijer WJ, Mancini GM. Verheijen FW, et al. Among authors: kleijer wj. J Med Genet. 1998 Oct;35(10):849-51. doi: 10.1136/jmg.35.10.849. J Med Genet. 1998. PMID: 9783711 Free PMC article.

7

Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients.

Bunge S, Kleijer WJ, Steglich C, Beck M, Zuther C, Morris CP, Schwinger E, Hopwood JJ, Scott HS, Gal A. Bunge S, et al. Among authors: kleijer wj. Hum Mol Genet. 1994 Jun;3(6):861-6. doi: 10.1093/hmg/3.6.861. Hum Mol Genet. 1994. PMID: 7951228

8

The frequency of lysosomal storage diseases in The Netherlands.

Poorthuis BJ, Wevers RA, Kleijer WJ, Groener JE, de Jong JG, van Weely S, Niezen-Koning KE, van Diggelen OP. Poorthuis BJ, et al. Among authors: kleijer wj. Hum Genet. 1999 Jul-Aug;105(1-2):151-6. doi: 10.1007/s004399900075. Hum Genet. 1999. PMID: 10480370

9

Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.

Graham JM Jr, Anyane-Yeboa K, Raams A, Appeldoorn E, Kleijer WJ, Garritsen VH, Busch D, Edersheim TG, Jaspers NG. Graham JM Jr, et al. Among authors: kleijer wj. Am J Hum Genet. 2001 Aug;69(2):291-300. doi: 10.1086/321295. Epub 2001 Jul 3. Am J Hum Genet. 2001. PMID: 11443545 Free PMC article.

10

[Menkes syndrome].

Zeman J, Houst'ková H, Hyánek J, Rubín A, Kleijer WJ, Komárek V, Jirásek A, Mandys V. Zeman J, et al. Among authors: kleijer wj. Cesk Pediatr. 1987 Feb;42(2):102-3. Cesk Pediatr. 1987. PMID: 3568170 Czech. No abstract available.

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