Jacques C Giltay

Jacques C Giltay

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Jacques C Giltay

Jacques C Giltay

Publications by authors named "Jacques C Giltay"

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25Publications

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A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder.

Eur J Hum Genet 2019 Dec 5. Epub 2019 Dec 5.

Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, 3584 CX, Utrecht, The Netherlands.

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http://dx.doi.org/10.1038/s41431-019-0552-9DOI Listing
December 2019

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

Clin Endocrinol (Oxf) 2018 09 3;89(3):378-380. Epub 2018 Jul 3.

Department of Clinical Genetics, Maastricht University Medical Center (MUMC+), Maastricht, The Netherlands.

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http://dx.doi.org/10.1111/cen.13760DOI Listing
September 2018

[An infant with remarkable soles of his feet].

Ned Tijdschr Geneeskd 2015 ;160:A9500

Beatrixziekenhuis, afd. Kindergeneeskunde, Gorinchem.

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November 2017

Further confirmation of the MED13L haploinsufficiency syndrome.

Eur J Hum Genet 2015 Jan 30;23(1):135-8. Epub 2014 Apr 30.

Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.

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http://www.nature.com/articles/ejhg201469
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http://dx.doi.org/10.1038/ejhg.2014.69DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266749PMC
January 2015

Is joint hypermobility associated with vesico-ureteral reflux? An assessment of 50 patients.

BJU Int 2012 Apr 24;109(8):1243-8. Epub 2011 Aug 24.

Departments of Medical Genetics, University Medical Centre Utrecht, The Netherlands.

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http://dx.doi.org/10.1111/j.1464-410X.2011.10469.xDOI Listing
April 2012

Limited contribution of NR5A1 (SF-1) mutations in women with primary ovarian insufficiency (POI).

Fertil Steril 2012 Jan 17;97(1):141-6.e2. Epub 2011 Nov 17.

Department of Reproductive Medicine and Gynecology, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.fertnstert.2011.10.032DOI Listing
January 2012

Attitudes of Klinefelter men and their relatives towards TESE-ICSI.

J Assist Reprod Genet 2011 Sep 30;28(9):809-14. Epub 2011 Jun 30.

Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1007/s10815-011-9603-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3169690PMC
September 2011

Klinefelter syndrome: clinical and molecular aspects.

Expert Rev Mol Diagn 2010 Sep;10(6):765-76

University Medical Centre Utrecht, Department of Medical Genetics, Utrecht, The Netherlands.

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http://dx.doi.org/10.1586/erm.10.63DOI Listing
September 2010

[Diagnostic images (417) A girl with a 'tail' Lumbosacral hypertrichosis (faun tail)].

Ned Tijdschr Geneeskd 2009 May;153(18):884

Universitair Medisch Centrum Utrecht.

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May 2009

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

Pediatr Nephrol 2007 Aug 12;22(8):1129-33. Epub 2007 May 12.

Department of Medical Genetics KC.04.084.2, University Medical Centre Utrecht, P.O. Box 85090, 3508 AB, Utrecht, The Netherlands.

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http://link.springer.com/10.1007/s00467-007-0492-4
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http://dx.doi.org/10.1007/s00467-007-0492-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1915619PMC
August 2007

Psychiatric morbidity and X-chromosomal origin in a Klinefelter sample.

Schizophr Res 2007 Jul 24;93(1-3):399-402. Epub 2007 Apr 24.

Rudolf Magnus Institute of Neuroscience, Department of Psychiatry, Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.schres.2007.03.015DOI Listing
July 2007

Apparent primary follicle-stimulating hormone deficiency is a rare cause of treatable male infertility.

Fertil Steril 2004 Mar;81(3):693-6

Department of Biomedical Genetics, University Medical Center, Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.fertnstert.2003.07.030DOI Listing
March 2004

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

J Urol 2004 Feb;171(2 Pt 1):931-2

Department of Medical Genetics, University Medical Center Utrect, The Netherlands.

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http://dx.doi.org/10.1097/01.ju.0000094802.50650.3dDOI Listing
February 2004

Two cases with partial trisomy 9p: molecular cytogenetic characterization and clinical follow-up.

Am J Med Genet 2002 Apr;109(2):125-32

Department of Medical Genetics, University Medical Center, Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.10322DOI Listing
April 2002