Sandkuijl L - Search Results

1

Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticity.

van Overveld PG, Lemmers RJ, Deidda G, Sandkuijl L, Padberg GW, Frants RR, van der Maarel SM. van Overveld PG, et al. Among authors: sandkuijl l. Hum Mol Genet. 2000 Nov 22;9(19):2879-84. doi: 10.1093/hmg/9.19.2879. Hum Mol Genet. 2000. PMID: 11092764

2

A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD).

van der Maarel SM, Deidda G, Lemmers RJ, Bakker E, van der Wielen MJ, Sandkuijl L, Hewitt JE, Padberg GW, Frants RR. van der Maarel SM, et al. Among authors: sandkuijl l. J Med Genet. 1999 Nov;36(11):823-8. J Med Genet. 1999. PMID: 10544225 Free PMC article.

3

De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10.

van der Maarel SM, Deidda G, Lemmers RJ, van Overveld PG, van der Wielen M, Hewitt JE, Sandkuijl L, Bakker B, van Ommen GJ, Padberg GW, Frants RR. van der Maarel SM, et al. Among authors: sandkuijl l. Am J Hum Genet. 2000 Jan;66(1):26-35. doi: 10.1086/302730. Am J Hum Genet. 2000. PMID: 10631134 Free PMC article.

4

Genetic linkage map of facioscapulohumeral muscular dystrophy and five polymorphic loci on chromosome 4q35-qter.

Wijmenga C, Sandkuijl LA, Moerer P, van der Boorn N, Bodrug SE, Ray PN, Brouwer OF, Murray JC, van Ommen GJ, Padberg GW, et al. Wijmenga C, et al. Among authors: sandkuijl la. Am J Hum Genet. 1992 Aug;51(2):411-5. Am J Hum Genet. 1992. PMID: 1642239 Free PMC article.

5

Pure hereditary spastic paraparesis: an exclusion map covering more than 40% of the autosomal genome.

van Deutekom JC, Bruyn RP, van den Boorn N, Sandkuijl LA, Padberg GW, Frants RR. van Deutekom JC, et al. Among authors: sandkuijl la. Hum Genet. 1994 Apr;93(4):408-14. doi: 10.1007/BF00201665. Hum Genet. 1994. PMID: 8168811

6

Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds.

Gruis NA, van der Velden PA, Sandkuijl LA, Prins DE, Weaver-Feldhaus J, Kamb A, Bergman W, Frants RR. Gruis NA, et al. Among authors: sandkuijl la. Nat Genet. 1995 Jul;10(3):351-3. doi: 10.1038/ng0795-351. Nat Genet. 1995. PMID: 7670475

7

Facioscapulohumeral muscular dystrophy in the Dutch population.

Padberg GW, Frants RR, Brouwer OF, Wijmenga C, Bakker E, Sandkuijl LA. Padberg GW, et al. Among authors: sandkuijl la. Muscle Nerve Suppl. 1995;2:S81-4. Muscle Nerve Suppl. 1995. PMID: 7739631 Free article.

8

Genetics of seven Dutch familial atypical multiple mole-melanoma syndrome families: a review of linkage results including chromosomes 1 and 9.

Bergman W, Gruis NA, Sandkuijl LA, Frants RR. Bergman W, et al. Among authors: sandkuijl la. J Invest Dermatol. 1994 Nov;103(5 Suppl):122S-125S. doi: 10.1111/1523-1747.ep12399430. J Invest Dermatol. 1994. PMID: 7963673 Free article.

9

Migraine, ataxia and epilepsy: a challenging spectrum of genetically determined calcium channelopathies. Dutch Migraine Genetics Research Group.

Terwindt GM, Ophoff RA, Haan J, Sandkuijl LA, Frants RR, Ferrari MD. Terwindt GM, et al. Among authors: sandkuijl la. Eur J Hum Genet. 1998 Jul-Aug;6(4):297-307. doi: 10.1038/sj.ejhg.5200206. Eur J Hum Genet. 1998. PMID: 9781035 Review.

10

Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3.

Ophoff RA, DeYoung J, Service SK, Joosse M, Caffo NA, Sandkuijl LA, Terwindt GM, Haan J, van den Maagdenberg AM, Jen J, Baloh RW, Barilla-LaBarca ML, Saccone NL, Atkinson JP, Ferrari MD, Freimer NB, Frants RR. Ophoff RA, et al. Among authors: sandkuijl la. Am J Hum Genet. 2001 Aug;69(2):447-53. doi: 10.1086/321975. Epub 2001 Jun 28. Am J Hum Genet. 2001. PMID: 11438888 Free PMC article.

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