Sandkuijl LA - Search Results

1

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

2

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. Am J Hum Genet. 2000 Jan;66(1):26-35. doi: 10.1086/302730. Am J Hum Genet. 2000. PMID: 10631134 Free PMC article.

3

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. Hum Mol Genet. 2000 Nov 22;9(19):2879-84. doi: 10.1093/hmg/9.19.2879. Hum Mol Genet. 2000. PMID: 11092764

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

Mutation in DHP receptor alpha 1 subunit (CACLN1A3) gene in a Dutch family with hypokalaemic periodic paralysis.

Boerman RH, Ophoff RA, Links TP, van Eijk R, Sandkuijl LA, Elbaz A, Vale-Santos JE, Wintzen AR, van Deutekom JC, Isles DE, et al. Boerman RH, et al. Among authors: sandkuijl la. J Med Genet. 1995 Jan;32(1):44-7. doi: 10.1136/jmg.32.1.44. J Med Genet. 1995. PMID: 7897626 Free PMC article.

6

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.

7

Genome-wide linkage scan for atypical nevi in p16-Leiden melanoma families.

de Snoo FA, Hottenga JJ, Gillanders EM, Sandkuijl LA, Jones MP, Bergman W, van der Drift C, van Leeuwen I, van Mourik L, Huurne JA, Frants RR, Willemze R, Breuning MH, Trent JM, Gruis NA. de Snoo FA, et al. Among authors: sandkuijl la. Eur J Hum Genet. 2008 Sep;16(9):1135-41. doi: 10.1038/ejhg.2008.72. Epub 2008 Apr 9. Eur J Hum Genet. 2008. PMID: 18398432

8

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. J Med Genet. 1999 Nov;36(11):823-8. J Med Genet. 1999. PMID: 10544225 Free PMC article.

9

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

10

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.

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