Sandkuijl LA - Search Results

1

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

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

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

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.

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: 23573591

7

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.

8

Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease.

Peters DJ, Spruit L, Saris JJ, Ravine D, Sandkuijl LA, Fossdal R, Boersma J, van Eijk R, Nørby S, Constantinou-Deltas CD, et al. Peters DJ, et al. Among authors: sandkuijl la. Nat Genet. 1993 Dec;5(4):359-62. doi: 10.1038/ng1293-359. Nat Genet. 1993. PMID: 8298643

9

Endemic Tyrolean infantile cirrhosis is not an allelic variant of Wilson's disease.

Wijmenga C, Müller T, Murli IS, Brunt T, Feichtinger H, Schönitzer D, Houwen RH, Müller W, Sandkuijl LA, Pearson PL. Wijmenga C, et al. Among authors: sandkuijl la. Eur J Hum Genet. 1998 Nov-Dec;6(6):624-8. doi: 10.1038/sj.ejhg.5200235. Eur J Hum Genet. 1998. PMID: 9887382

10

A genome-wide scan in type 2 diabetes mellitus provides independent replication of a susceptibility locus on 18p11 and suggests the existence of novel Loci on 2q12 and 19q13.

van Tilburg JH, Sandkuijl LA, Strengman E, van Someren H, Rigters-Aris CA, Pearson PL, van Haeften TW, Wijmenga C. van Tilburg JH, et al. Among authors: sandkuijl la. J Clin Endocrinol Metab. 2003 May;88(5):2223-30. doi: 10.1210/jc.2002-021252. J Clin Endocrinol Metab. 2003. PMID: 12727978

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