Kleijer W - Search Results

1

The gene for juvenile hyaline fibromatosis maps to chromosome 4q21.

Rahman N, Dunstan M, Teare MD, Hanks S, Edkins SJ, Hughes J, Bignell GR, Mancini G, Kleijer W, Campbell M, Keser G, Black C, Williams N, Arbour L, Warman M, Superti-Furga A, Futreal PA, Pope FM. Rahman N, et al. Among authors: kleijer w. Am J Hum Genet. 2002 Oct;71(4):975-80. doi: 10.1086/342776. Epub 2002 Sep 4. Am J Hum Genet. 2002. PMID: 12214284 Free PMC article.

2

Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis.

Hanks S, Adams S, Douglas J, Arbour L, Atherton DJ, Balci S, Bode H, Campbell ME, Feingold M, Keser G, Kleijer W, Mancini G, McGrath JA, Muntoni F, Nanda A, Teare MD, Warman M, Pope FM, Superti-Furga A, Futreal PA, Rahman N. Hanks S, et al. Among authors: kleijer w. Am J Hum Genet. 2003 Oct;73(4):791-800. doi: 10.1086/378418. Epub 2003 Aug 21. Am J Hum Genet. 2003. PMID: 14508707 Free PMC article.

3

Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.

Cosma MP, Pepe S, Parenti G, Settembre C, Annunziata I, Wade-Martins R, Di Domenico C, Di Natale P, Mankad A, Cox B, Uziel G, Mancini GM, Zammarchi E, Donati MA, Kleijer WJ, Filocamo M, Carrozzo R, Carella M, Ballabio A. Cosma MP, et al. Hum Mutat. 2004 Jun;23(6):576-81. doi: 10.1002/humu.20040. Hum Mutat. 2004. PMID: 15146462

4

Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B.

Paschke E, Milos I, Kreimer-Erlacher H, Hoefler G, Beck M, Hoeltzenbein M, Kleijer W, Levade T, Michelakakis H, Radeva B. Paschke E, et al. Among authors: kleijer w. Hum Genet. 2001 Aug;109(2):159-66. doi: 10.1007/s004390100570. Hum Genet. 2001. PMID: 11511921

5

Possible new variant of Nijmegen breakage syndrome.

Der Kaloustian VM, Kleijer W, Booth A, Auerbach AD, Mazer B, Elliott AM, Abish S, Usher R, Watters G, Vekemans M, Eydoux P. Der Kaloustian VM, et al. Among authors: kleijer w. Am J Med Genet. 1996 Oct 2;65(1):21-6. doi: 10.1002/(SICI)1096-8628(19961002)65:1<21::AID-AJMG3>3.0.CO;2-0. Am J Med Genet. 1996. PMID: 8914736 Review.

6

Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene.

Linnebank M, Tschiedel E, Häberle J, Linnebank A, Willenbring H, Kleijer WJ, Koch HG. Linnebank M, et al. Hum Genet. 2002 Oct;111(4-5):350-9. doi: 10.1007/s00439-002-0793-4. Epub 2002 Aug 14. Hum Genet. 2002. PMID: 12384776

7

First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure.

Jaspers NG, Raams A, Silengo MC, Wijgers N, Niedernhofer LJ, Robinson AR, Giglia-Mari G, Hoogstraten D, Kleijer WJ, Hoeijmakers JH, Vermeulen W. Jaspers NG, et al. Among authors: kleijer wj. Am J Hum Genet. 2007 Mar;80(3):457-66. doi: 10.1086/512486. Epub 2007 Jan 29. Am J Hum Genet. 2007. PMID: 17273966 Free PMC article.

8

The cystathionine beta-synthase variant c.844_845ins68 protects against CNS demyelination in X-linked adrenoleukodystrophy.

Linnebank M, Semmler A, Kleijer WJ, van der Sterre ML, Gärtner J, Fliessbach K, Sokolowski P, Köhler W, Schlegel U, Klockgether T, Wanders RJ, Schmidt S, Wüllner U, Kemp S. Linnebank M, et al. Among authors: kleijer wj. Hum Mutat. 2006 Oct;27(10):1063-4. doi: 10.1002/humu.9459. Hum Mutat. 2006. PMID: 16941496

9

GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling.

Caciotti A, Donati MA, Procopio E, Filocamo M, Kleijer W, Wuyts W, Blaumeiser B, d'Azzo A, Simi L, Orlando C, McKenzie F, Fiumara A, Zammarchi E, Morrone A. Caciotti A, et al. Among authors: kleijer w. Hum Mutat. 2007 Feb;28(2):204. doi: 10.1002/humu.9475. Hum Mutat. 2007. PMID: 17221873

10

Collaborative study of the molecular epidemiology of Tay-Sachs disease in Europe.

Akli S, Boue J, Sandhoff K, Kleijer W, Vamos E, Young E, Gatti R, Di Natale P, Motte J, Vanier MT, et al. Akli S, et al. Among authors: kleijer w. Eur J Hum Genet. 1993;1(3):229-38. doi: 10.1159/000472416. Eur J Hum Genet. 1993. PMID: 8044648

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