Sinke RJ - Search Results

1

Benign recurrent intrahepatic cholestasis (BRIC): evidence of genetic heterogeneity and delimitation of the BRIC locus to a 7-cM interval between D18S69 and D18S64.

Sinke RJ, Carlton VE, Juijn JA, Delhaas T, Bull L, van Berge Henegouwen GP, van Hattum J, Keller KM, Sinaasappel M, Bijleveld CM, Knol IE, Ploos van Amstel HK, Pearson PL, Berger R, Freimer NB, Houwen RH. Sinke RJ, et al. Hum Genet. 1997 Sep;100(3-4):382-7. doi: 10.1007/s004390050520. Hum Genet. 1997. PMID: 9272159 Free article.

2

Localization of X chromosome short arm markers relative to synovial sarcoma- and renal adenocarcinoma-associated translocation breakpoints.

Sinke RJ, de Leeuw B, Janssen HA, Weghuis DO, Suijkerbuijk RF, Meloni AM, Gilgenkrantz S, Berger W, Ropers HH, Sandberg AA, et al. Sinke RJ, et al. Hum Genet. 1993 Oct 1;92(3):305-8. doi: 10.1007/BF00244478. Hum Genet. 1993. PMID: 8406438

3

Exclusion of the phosphatidylinositol-specific phospholipase C beta 3 (PLC beta 3) gene as candidate for the multiple endocrine neoplasia type 1 (MEN 1) gene.

de Wit MJ, Landsvater RM, Sinke RJ, Geurts van Kessel A, Lips CJ, Höppener JW. de Wit MJ, et al. Among authors: sinke rj. Hum Genet. 1997 Jan;99(1):133-7. doi: 10.1007/s004390050327. Hum Genet. 1997. PMID: 9003511

4

Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.

Sjarif DR, Sinke RJ, Duran M, Beemer FA, Kleijer WJ, Ploos van Amstel JK, Poll-The BT. Sjarif DR, et al. Among authors: sinke rj. J Med Genet. 1998 Aug;35(8):650-6. doi: 10.1136/jmg.35.8.650. J Med Genet. 1998. PMID: 9719371 Free PMC article.

5

Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC.

Bull LN, Juijn JA, Liao M, van Eijk MJ, Sinke RJ, Stricker NL, DeYoung JA, Carlton VE, Baharloo S, Klomp LW, Abukawa D, Barton DE, Bass NM, Bourke B, Drumm B, Jankowska I, Lovisetto P, McQuaid S, Pawlowska J, Tazawa Y, Villa E, Tygstrup N, Berger R, Knisely AS, Freimer NB, et al. Bull LN, et al. Among authors: sinke rj. Hum Genet. 1999 Mar;104(3):241-8. doi: 10.1007/pl00008714. Hum Genet. 1999. PMID: 10323248

6

Two cases with partial trisomy 9p: molecular cytogenetic characterization and clinical follow-up.

Littooij AS, Hochstenbach R, Sinke RJ, van Tintelen P, Giltay JC. Littooij AS, et al. Among authors: sinke rj. Am J Med Genet. 2002 Apr 22;109(2):125-32. doi: 10.1002/ajmg.10322. Am J Med Genet. 2002. PMID: 11977161

7

Identification of a novel SCA locus ( SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21.

Verbeek DS, Schelhaas JH, Ippel EF, Beemer FA, Pearson PL, Sinke RJ. Verbeek DS, et al. Among authors: sinke rj. Hum Genet. 2002 Oct;111(4-5):388-93. doi: 10.1007/s00439-002-0782-7. Epub 2002 Aug 30. Hum Genet. 2002. PMID: 12384780

8

A whole-genome scan in 164 Dutch sib pairs with attention-deficit/hyperactivity disorder: suggestive evidence for linkage on chromosomes 7p and 15q.

Bakker SC, van der Meulen EM, Buitelaar JK, Sandkuijl LA, Pauls DL, Monsuur AJ, van 't Slot R, Minderaa RB, Gunning WB, Pearson PL, Sinke RJ. Bakker SC, et al. Among authors: sinke rj. Am J Hum Genet. 2003 May;72(5):1251-60. doi: 10.1086/375143. Epub 2003 Apr 4. Am J Hum Genet. 2003. PMID: 12679898 Free PMC article.

9

Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family.

van de Warrenburg BP, Verbeek DS, Piersma SJ, Hennekam FA, Pearson PL, Knoers NV, Kremer HP, Sinke RJ. van de Warrenburg BP, et al. Among authors: sinke rj. Neurology. 2003 Dec 23;61(12):1760-5. doi: 10.1212/01.wnl.0000098883.79421.73. Neurology. 2003. PMID: 14694043

10

Haplotype study in Dutch SCA3 and SCA6 families: evidence for common founder mutations.

Verbeek DS, Piersma SJ, Hennekam EF, Ippel EF, Pearson PL, Sinke RJ. Verbeek DS, et al. Among authors: sinke rj. Eur J Hum Genet. 2004 Jun;12(6):441-6. doi: 10.1038/sj.ejhg.5201167. Eur J Hum Genet. 2004. PMID: 15026782

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