Giltay JC - Search Results

1

Tetraploid/Diploid Mosaicism in Cultured Genital Skin Fibroblasts: Is It Causally Related to Penoscrotal Hypospadias?

Giltay JC, Klijn AJ, de Jong TP, Kats P, van Breugel M, Lens S, Vromans M, van der Veken LT, Hochstenbach R. Giltay JC, et al. Mol Syndromol. 2016 Jul;7(3):153-9. doi: 10.1159/000446203. Epub 2016 Jun 2. Mol Syndromol. 2016. PMID: 27587991 Free PMC article.

2

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: giltay jc. Am J Med Genet. 2002 Apr 22;109(2):125-32. doi: 10.1002/ajmg.10322. Am J Med Genet. 2002. PMID: 11977161

3

Diploid/triploid mosaicism in dysmorphic patients.

van de Laar I, Rabelink G, Hochstenbach R, Tuerlings J, Hoogeboom J, Giltay J. van de Laar I, et al. Clin Genet. 2002 Nov;62(5):376-82. doi: 10.1034/j.1399-0004.2002.620504.x. Clin Genet. 2002. PMID: 12431252 Review.

4

No pathogenic mutations in the uroplakin III gene of 25 patients with primary vesicoureteral reflux.

Giltay JC, van de Meerakker J, van Amstel HK, de Jong TP. Giltay JC, et al. J Urol. 2004 Feb;171(2 Pt 1):931-2. doi: 10.1097/01.ju.0000094802.50650.3d. J Urol. 2004. PMID: 14713856

5

Kinetics of meiosis in azoospermic males: a joint histological and cytological approach.

de Boer P, Giele M, Lock MT, de Rooij DG, Giltay J, Hochstenbach R, te Velde ER. de Boer P, et al. Cytogenet Genome Res. 2004;105(1):36-46. doi: 10.1159/000078007. Cytogenet Genome Res. 2004. PMID: 15218256 Clinical Trial.

6

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

7

Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux.

Lu W, van Eerde AM, Fan X, Quintero-Rivera F, Kulkarni S, Ferguson H, Kim HG, Fan Y, Xi Q, Li QG, Sanlaville D, Andrews W, Sundaresan V, Bi W, Yan J, Giltay JC, Wijmenga C, de Jong TP, Feather SA, Woolf AS, Rao Y, Lupski JR, Eccles MR, Quade BJ, Gusella JF, Morton CC, Maas RL. Lu W, et al. Among authors: giltay jc. Am J Hum Genet. 2007 Apr;80(4):616-32. doi: 10.1086/512735. Epub 2007 Feb 14. Am J Hum Genet. 2007. PMID: 17357069 Free PMC article.

8

Vesico-ureteral reflux in children with prenatally detected hydronephrosis: a systematic review.

van Eerde AM, Meutgeert MH, de Jong TP, Giltay JC. van Eerde AM, et al. Among authors: giltay jc. Ultrasound Obstet Gynecol. 2007 Apr;29(4):463-9. doi: 10.1002/uog.3975. Ultrasound Obstet Gynecol. 2007. PMID: 17390310 Free article. Review.

9

Linkage study of 14 candidate genes and loci in four large Dutch families with vesico-ureteral reflux.

van Eerde AM, Koeleman BP, van de Kamp JM, de Jong TP, Wijmenga C, Giltay JC. van Eerde AM, et al. Among authors: giltay jc. Pediatr Nephrol. 2007 Aug;22(8):1129-33. doi: 10.1007/s00467-007-0492-4. Epub 2007 May 12. Pediatr Nephrol. 2007. PMID: 17497182 Free PMC article.

10

Variant Klinefelter syndrome 47,X,i(X)(q10),Y and normal 46,XY karyotype in monozygotic adult twins.

Stemkens D, Broekmans FJ, Kastrop PM, Hochstenbach R, Smith BG, Giltay JC. Stemkens D, et al. Among authors: giltay jc. Am J Med Genet A. 2007 Aug 15;143A(16):1906-11. doi: 10.1002/ajmg.a.31856. Am J Med Genet A. 2007. PMID: 17632769

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