Sinke RJ - Search Results

1

An amino-terminal DAX1 (NROB1) missense mutation associated with isolated mineralocorticoid deficiency.

Verrijn Stuart AA, Ozisik G, de Vroede MA, Giltay JC, Sinke RJ, Peterson TJ, Harris RM, Weiss J, Jameson JL. Verrijn Stuart AA, et al. Among authors: sinke rj. J Clin Endocrinol Metab. 2007 Mar;92(3):755-61. doi: 10.1210/jc.2005-2429. Epub 2006 Dec 12. J Clin Endocrinol Metab. 2007. PMID: 17164309

2

Short stature as the only presenting feature in a patient with an isodicentric (Y)(q11.23) and gonadoblastoma. A clinical and molecular cytogenetic study.

Giltay JC, Ausems MG, van Seumeren I, Zewald RA, Sinke RJ, Faas B, de Vroede M. Giltay JC, et al. Among authors: sinke rj. Eur J Pediatr. 2001 Mar;160(3):154-8. doi: 10.1007/s004310000683. Eur J Pediatr. 2001. PMID: 11277375

3

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

4

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

5

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. 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

6

Finding suitable phenotypes for genetic studies of schizophrenia: heritability and segregation analysis.

Aukes MF, Alizadeh BZ, Sitskoorn MM, Selten JP, Sinke RJ, Kemner C, Ophoff RA, Kahn RS. Aukes MF, et al. Among authors: sinke rj. Biol Psychiatry. 2008 Jul 15;64(2):128-36. doi: 10.1016/j.biopsych.2007.12.013. Epub 2008 Mar 4. Biol Psychiatry. 2008. PMID: 18295748

7

Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly.

Rump P, Jazayeri O, van Dijk-Bos KK, Johansson LF, van Essen AJ, Verheij JB, Veenstra-Knol HE, Redeker EJ, Mannens MM, Swertz MA, Alizadeh BZ, van Ravenswaaij-Arts CM, Sinke RJ, Sikkema-Raddatz B. Rump P, et al. Among authors: sinke rj. BMC Med Genomics. 2016 Feb 4;9:7. doi: 10.1186/s12920-016-0167-8. BMC Med Genomics. 2016. PMID: 26846091 Free PMC article.

8

Striking anticipation in spinocerebellar ataxia type 7: the infantile phenotype.

van de Warrenburg BP, Frenken CW, Ausems MG, Kleefstra T, Sinke RJ, Knoers NV, Kremer HP. van de Warrenburg BP, et al. Among authors: sinke rj. J Neurol. 2001 Oct;248(10):911-4. doi: 10.1007/s004150170082. J Neurol. 2001. PMID: 11697534 No abstract available.

9

Rapid detection of chromosomal aneuploidies in uncultured amniocytes by multiplex ligation-dependent probe amplification (MLPA).

Hochstenbach R, Meijer J, van de Brug J, Vossebeld-Hoff I, Jansen R, van der Luijt RB, Sinke RJ, Page-Christiaens GC, Ploos van Amstel JK, de Pater JM. Hochstenbach R, et al. Among authors: sinke rj. Prenat Diagn. 2005 Nov;25(11):1032-9. doi: 10.1002/pd.1247. Prenat Diagn. 2005. PMID: 16231311

10

Molecular characterization of a recurring complex chromosomal translocation in two human extragonadal germ cell tumors.

Sinke RJ, Weghuis DO, Suijkerbuijk RF, Tanigami A, Nakamura Y, Larsson C, Weber G, de Jong B, Oosterhuis JW, Molenaar WM, et al. Sinke RJ, et al. Cancer Genet Cytogenet. 1994 Mar;73(1):11-6. doi: 10.1016/0165-4608(94)90176-7. Cancer Genet Cytogenet. 1994. PMID: 8174069

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