Giltay JC - 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: giltay jc. 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

[From gene to disease; congenital adrenal hypoplasia and the DAX-1 gene].

Verrijn Stuart AA, de Vroede MA, Giltay JC. Verrijn Stuart AA, et al. Among authors: giltay jc. Ned Tijdschr Geneeskd. 2005 May 21;149(21):1156-8. Ned Tijdschr Geneeskd. 2005. PMID: 15940919 Review. Dutch.

3

Familial Male-limited Precocious Puberty (FMPP) and Testicular Germ Cell Tumors.

Kooij CD, Mavinkurve-Groothuis AMC, Kremer Hovinga ICL, Looijenga LHJ, Rinne T, Giltay JC, de Kort LMO, Klijn AJ, de Krijger RR, Verrijn Stuart AA. Kooij CD, et al. Among authors: giltay jc. J Clin Endocrinol Metab. 2022 Nov 23;107(11):3035-3044. doi: 10.1210/clinem/dgac516. J Clin Endocrinol Metab. 2022. PMID: 36071555 Free PMC article. Review.

4

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

5

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

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

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

8

Extreme phenotypic variability of a novel GLI2 mutation in a large family with panhypopituitarism and polydactyly: clinical implications.

Kremer Hovinga ICL, Giltay JC, van der Crabben SN, Steyls A, van der Kamp HJ, Paulussen ADC. Kremer Hovinga ICL, et al. Among authors: giltay jc. Clin Endocrinol (Oxf). 2018 Sep;89(3):378-380. doi: 10.1111/cen.13760. Epub 2018 Jul 3. Clin Endocrinol (Oxf). 2018. PMID: 29876959 No abstract available.

9

[Genetics in medical practice after 2000].

Ploos van Amstel JK, van Haeften TW, Giltay JC. Ploos van Amstel JK, et al. Among authors: giltay jc. Ned Tijdschr Geneeskd. 1999 Nov 6;143(45):2261-5. Ned Tijdschr Geneeskd. 1999. PMID: 10578426 Review. Dutch.

10

Persistent Müllerian duct syndrome due to anti-Müllerian hormone receptor 2 microdeletions: a diagnostic challenge.

Tosca L, Giltay JC, Bouvattier C, Klijn AJ, Bouligand J, Lambert AS, Lecerf L, Josso N, Tachdjian G, Picard JY. Tosca L, et al. Among authors: giltay jc. Hum Reprod. 2020 Apr 28;35(4):999-1003. doi: 10.1093/humrep/deaa014. Hum Reprod. 2020. PMID: 32187366

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