Giltay J - Search Results

1

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: giltay j. 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

2

Unbalanced karyotype, dup 14(q13-q22), in a mother and her two children.

Pot ML, Giltay JC, van Wilsen A, Breslau-Siderius EJ. Pot ML, et al. Among authors: giltay jc. Clin Genet. 1996 Nov;50(5):398-402. doi: 10.1111/j.1399-0004.1996.tb02395.x. Clin Genet. 1996. PMID: 9007331

3

A case of de novo interstitial deletion of chromosome 5(q33q34).

Giltay JC, Gerssen-Schoorl KB, Luitse GH, Dauwerse HG. Giltay JC, et al. Clin Genet. 1997 Sep;52(3):173-6. doi: 10.1111/j.1399-0004.1997.tb02539.x. Clin Genet. 1997. PMID: 9377807

4

Subfertile men with constitutive chromosome abnormalities do not necessarily refrain from intracytoplasmic sperm injection treatment: a follow-up study on 75 Dutch patients.

Giltay JC, Kastrop PM, Tuerlings JH, Kremer JA, Tiemessen CH, Gerssen-Schoorl KB, van der Veen F, de Vries J, Hordijk R, Hamers GJ, Hansson K, van der Blij-Philipsen M, Govaerts LC, Pieters MH, Madan K, Scheres JM. Giltay JC, et al. Hum Reprod. 1999 Feb;14(2):318-20. doi: 10.1093/humrep/14.2.318. Hum Reprod. 1999. PMID: 10099971

5

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. Eur J Pediatr. 2001 Mar;160(3):154-8. doi: 10.1007/s004310000683. Eur J Pediatr. 2001. PMID: 11277375

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: 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

7

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. Among authors: giltay j. Clin Genet. 2002 Nov;62(5):376-82. doi: 10.1034/j.1399-0004.2002.620504.x. Clin Genet. 2002. PMID: 12431252 Review.

8

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. Among authors: giltay j. Cytogenet Genome Res. 2004;105(1):36-46. doi: 10.1159/000078007. Cytogenet Genome Res. 2004. PMID: 15218256 Clinical Trial.

9

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: giltay jc. Clin Genet. 2006 Jul;70(1):43-8. doi: 10.1111/j.1399-0004.2006.00635.x. Clin Genet. 2006. PMID: 16813603

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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