Sinke R - Search Results

1

X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face.

Harakalova M, van den Boogaard MJ, Sinke R, van Lieshout S, van Tuil MC, Duran K, Renkens I, Terhal PA, de Kovel C, Nijman IJ, van Haelst M, Knoers NV, van Haaften G, Kloosterman W, Hennekam RC, Cuppen E, Ploos van Amstel HK. Harakalova M, et al. Among authors: sinke r. J Med Genet. 2012 Aug;49(8):539-43. doi: 10.1136/jmedgenet-2012-100921. J Med Genet. 2012. PMID: 22889856

2

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.

3

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.

4

Clinical and molecular correlations in spinocerebellar ataxia type 6: a study of 24 Dutch families.

Sinke RJ, Ippel EF, Diepstraten CM, Beemer FA, Wokke JH, van Hilten BJ, Knoers NV, van Amstel HK, Kremer HP. Sinke RJ, et al. Arch Neurol. 2001 Nov;58(11):1839-44. doi: 10.1001/archneur.58.11.1839. Arch Neurol. 2001. PMID: 11708993

5

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

6

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. 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

7

[Developmental disorder in girls due to Rett syndrome].

Pruissen DM, Sinke RJ, Terhal PA, Beemer FA, Peters AC. Pruissen DM, et al. Among authors: sinke rj. Ned Tijdschr Geneeskd. 2003 Aug 9;147(32):1560-3. Ned Tijdschr Geneeskd. 2003. PMID: 12942847 Dutch.

8

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

9

Cerebellar hypoplasia, zonular cataract, and peripheral neuropathy in trisomy 17 mosaicism.

Terhal P, Sakkers R, Hochstenbach R, Madan K, Rabelink G, Sinke R, Giltay J. Terhal P, et al. Among authors: sinke r. Am J Med Genet A. 2004 Nov 1;130A(4):410-4. doi: 10.1002/ajmg.a.30124. Am J Med Genet A. 2004. PMID: 15481034

10

Is there an influence of X-chromosomal imprinting on the phenotype in Klinefelter syndrome? A clinical and molecular genetic study of 61 cases.

Stemkens D, Roza T, Verrij L, Swaab H, van Werkhoven MK, Alizadeh BZ, Sinke RJ, Giltay JC. Stemkens D, et al. Among authors: sinke rj. Clin Genet. 2006 Jul;70(1):43-8. doi: 10.1111/j.1399-0004.2006.00635.x. Clin Genet. 2006. PMID: 16813603

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