Sandkuijl LA - Search Results

1

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.

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. 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. 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

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

5

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy.

Wijmenga C, Hewitt JE, Sandkuijl LA, Clark LN, Wright TJ, Dauwerse HG, Gruter AM, Hofker MH, Moerer P, Williamson R, et al. Wijmenga C, et al. Among authors: sandkuijl la. Nat Genet. 1992 Sep;2(1):26-30. doi: 10.1038/ng0992-26. Nat Genet. 1992. PMID: 1363881

6

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.

7

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

8

Molecular genetic analysis of two families with keratosis follicularis spinulosa decalvans: refinement of gene localization and evidence for genetic heterogeneity.

Oosterwijk JC, Richard G, van der Wielen MJ, van de Vosse E, Harth W, Sandkuijl LA, Bakker E, van Ommen GJ. Oosterwijk JC, et al. Among authors: sandkuijl la. Hum Genet. 1997 Oct;100(5-6):520-4. doi: 10.1007/s004390050546. Hum Genet. 1997. PMID: 9341865

9

Localization of the ICF syndrome to chromosome 20 by homozygosity mapping.

Wijmenga C, van den Heuvel LP, Strengman E, Luyten JA, van der Burgt IJ, de Groot R, Smeets DF, Draaisma JM, van Dongen JJ, De Abreu RA, Pearson PL, Sandkuijl LA, Weemaes CM. Wijmenga C, et al. Among authors: sandkuijl la. Am J Hum Genet. 1998 Sep;63(3):803-9. doi: 10.1086/302021. Am J Hum Genet. 1998. PMID: 9718351 Free PMC article.

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: 23573591

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