Publications by authors named "Katrien Stouffs"

37Publications

Chudley-McCullough Syndrome: A Recognizable Clinical Entity Characterized by Deafness and Typical Brain Malformations.

J Child Neurol 2020 Oct 4:883073820960314. Epub 2020 Oct 4.

Neurogenetics Research Group, Reproduction-Genetics & Regenerative Medicine Research Cluster, Vrije Universiteit Brussel, Brussels, Belgium.

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http://dx.doi.org/10.1177/0883073820960314DOI Listing
October 2020

Phenotype description in KIF5C gene hot-spot mutations responsible for malformations of cortical development (MCD).

Eur J Med Genet 2020 Sep 18;63(9):103991. Epub 2020 Jun 18.

Center for Human Genetics, Cliniques Universitaires Saint Luc, UCLouvain, Brussels, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.103991DOI Listing
September 2020

Rare genetic variants potentially involved in ovarian hyperstimulation syndrome.

J Assist Reprod Genet 2019 Mar 27;36(3):491-497. Epub 2018 Nov 27.

Center for Reproductive Medicine, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Laarbeeklaan 101, 1090, Brussels, Belgium.

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http://dx.doi.org/10.1007/s10815-018-1372-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6439123PMC
March 2019

Correction: The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 Aug;21(8):1896

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0325-9DOI Listing
August 2019

Correction to: The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 Jul;21(7):1671

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0284-1DOI Listing
July 2019

The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 02 10;21(2):398-408. Epub 2018 Aug 10.

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France.

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http://www.nature.com/articles/s41436-018-0060-2
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http://dx.doi.org/10.1038/s41436-018-0060-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292495PMC
February 2019

Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations.

Eur J Med Genet 2018 Dec 5;61(12):733-737. Epub 2018 Jun 5.

Neurogenetics Research Group, Vrije Universiteit Brussel, Brussels, Belgium; Pediatric Neurology Unit, Department of Pediatrics, UZ Brussel, Brussels, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2018.06.001DOI Listing
December 2018

Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1.

Eur J Hum Genet 2018 08 30;26(8):1132-1142. Epub 2018 Apr 30.

Neurogenetics Research Group, Reproduction Genetics and Regenerative Medicine Research Cluster, Vrije Universiteit Brussel, Brussels, Belgium.

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http://dx.doi.org/10.1038/s41431-018-0146-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057922PMC
August 2018

Convert your favorite protein modeling program into a mutation predictor: "MODICT".

BMC Bioinformatics 2016 Oct 19;17(1):425. Epub 2016 Oct 19.

Center for Medical Genetics, Reproduction and Genetics, Reproduction Genetics and Regenerative Medicine, Vrije Universiteit Brussel (VUB), UZ Brussel, Laarbeeklaan 101, Brussel, 1090, Belgium.

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http://dx.doi.org/10.1186/s12859-016-1286-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5070100PMC
October 2016

Polyneuropathy in a young Belgian patient: A novel heterozygous mutation in the WNK1/HSN2 gene.

Neurol Genet 2016 Feb 7;2(1):e42. Epub 2016 Jan 7.

Vrije Universiteit Brussel (J.d.F.); Pediatric Neurology Unit (D.H.), Department of Pediatrics, Universitair Ziekenhuis Brussel; Centre for Medical Genetics/Research Centre Reproduction and Genetics (S.S., A.G., K.S., K.K.), Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel; and Department of Endocrinology and General Internal Medicine (B.V.), Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Brussels, Belgium.

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http://dx.doi.org/10.1212/NXG.0000000000000042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4817896PMC
February 2016

Male Infertility: Genetics, Mechanism, and Therapies.

Biomed Res Int 2016 31;2016:7372362. Epub 2016 Jan 31.

INSERM U1016, Institut Cochin, CNRS UMR8104, Université Paris Descartes, Sorbonne Paris Cité, Faculté de Médecine, 75014 Paris, France.

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http://dx.doi.org/10.1155/2016/7372362DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4753002PMC
November 2016

Sertoli Cell-Only Syndrome: Behind the Genetic Scenes.

Biomed Res Int 2016 26;2016:6191307. Epub 2016 Jan 26.

Center for Medical Genetics/Research Center Reproduction and Genetics, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Laarbeeklaan 101, 1090 Brussels, Belgium.

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http://dx.doi.org/10.1155/2016/6191307DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4746273PMC
December 2016

I-PV: a CIRCOS module for interactive protein sequence visualization.

Bioinformatics 2016 Feb 10;32(3):447-9. Epub 2015 Oct 10.

Pediatric Neurology Unit, Department of Pediatrics, UZ Brussel, Brussels, Belgium Neurogenetics Research Group, Vrije Universiteit Brussel, Brussels, Belgium.

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http://bioinformatics.oxfordjournals.org/content/early/2015/
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http://bioinformatics.oxfordjournals.org/content/early/2015/
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http://bioinformatics.oxfordjournals.org/lookup/doi/10.1093/
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http://dx.doi.org/10.1093/bioinformatics/btv579DOI Listing
February 2016

Ovarian hyperstimulation syndrome after gonadotropin-releasing hormone agonist triggering and "freeze-all": in-depth analysis of genetic predisposition.

J Assist Reprod Genet 2015 Jul 17;32(7):1063-8. Epub 2015 May 17.

Centre for Reproductive Medicine, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Laarbeeklaan 101, 1090, Brussels, Belgium.

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http://dx.doi.org/10.1007/s10815-015-0498-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4531869PMC
July 2015

A bumpy ride on the diagnostic bench of massive parallel sequencing, the case of the mitochondrial genome.

PLoS One 2014 10;9(11):e112950. Epub 2014 Nov 10.

Research Group Reproduction and Genetics (REGE), Vrije Universiteit Brussel (VUB), Brussels, Belgium; Center for Medical Genetics, UZ Brussel, Vrije Universiteit Brussel (VUB), Brussels, Belgium.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0112950PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4226615PMC
December 2015

Genetic causes of male infertility.

Ann Endocrinol (Paris) 2014 May 24;75(2):109-11. Epub 2014 Apr 24.

Center for Medical Genetics/Research Center Reproduction and Genetics, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel (VUB), Laarbeeklaan 101, 1090 Brussels, Belgium.

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http://dx.doi.org/10.1016/j.ando.2014.03.004DOI Listing
May 2014

Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?

Eur J Hum Genet 2015 Jan 26;23(1):41-8. Epub 2014 Mar 26.

1] Research Group Reproduction and Genetics, Vrije Universiteit Brussel (VUB), Brussels, Belgium [2] Department of Pediatric Neurology, UZ Brussel, Vrije Universiteit Brussel (VUB), Brussels, Belgium.

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http://dx.doi.org/10.1038/ejhg.2014.49DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266735PMC
January 2015

X chromosomal mutations and spermatogenic failure.

Biochim Biophys Acta 2012 Dec 23;1822(12):1864-72. Epub 2012 May 23.

Center for Medical Genetics, Universitair Ziekenhuis Brussel, Brussels, Belgium.

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http://dx.doi.org/10.1016/j.bbadis.2012.05.012DOI Listing
December 2012

Genetic causes of spermatogenic failure.

Asian J Androl 2012 Jan 5;14(1):40-8. Epub 2011 Dec 5.

Center for Medical Genetics, Universitair Ziekenhuis Brussel, Brussels, Belgium.

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http://dx.doi.org/10.1038/aja.2011.67DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3735159PMC
January 2012

What about gr/gr deletions and male infertility? Systematic review and meta-analysis.

Hum Reprod Update 2011 Mar-Apr;17(2):197-209. Epub 2010 Oct 19.

Centre for Medical Genetics, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Laarbeeklaan 101, Brussels, Belgium.

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http://dx.doi.org/10.1093/humupd/dmq046DOI Listing
June 2011

Male infertility and the involvement of the X chromosome.

Hum Reprod Update 2009 Nov-Dec;15(6):623-37. Epub 2009 Jun 10.

Department of Embryology and Genetics, Vrije Universiteit Brussel, Laarbeeklaan 101, 1090 Brussels, Belgium.

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http://dx.doi.org/10.1093/humupd/dmp023DOI Listing
January 2010

Do we need to search for gr/gr deletions in infertile men in a clinical setting?

Hum Reprod 2008 May 7;23(5):1193-9. Epub 2008 Mar 7.

Research Centre for Reproduction and Genetics, Vrije Universiteit Brussel, Laarbeeklaan 101, 1090 Brussels, Belgium.

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http://dx.doi.org/10.1093/humrep/den069DOI Listing
May 2008

Is there a role for the nuclear export factor 2 gene in male infertility?

Fertil Steril 2008 Nov 6;90(5):1787-91. Epub 2008 Feb 6.

Research Centre for Reproduction and Genetics, Vrije Universiteit Brussel, Brussels, Belgium.

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http://dx.doi.org/10.1016/j.fertnstert.2007.08.071DOI Listing
November 2008

Alterations of the USP26 gene in Caucasian men.

Int J Androl 2006 Dec;29(6):614-7

Research Centre Reproduction and Genetics, Vrije Universiteit Brussel, Brussels, Belgium.

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http://dx.doi.org/10.1111/j.1365-2605.2006.00708.xDOI Listing
December 2006

SYCP3 mutations are uncommon in patients with azoospermia.

Fertil Steril 2005 Oct;84(4):1019-20

Research Center for Reproduction and Genetics, Vrije Universiteit Brussel, Laarbeeklaan, Brussels, Belgium.

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http://dx.doi.org/10.1016/j.fertnstert.2005.04.033DOI Listing
October 2005

The choice and outcome of the fertility treatment of 38 couples in whom the male partner has a Yq microdeletion.

Hum Reprod 2005 Jul 24;20(7):1887-96. Epub 2005 Mar 24.

Centre for Medical Genetics, University Hospital, Dutch-speaking Brussels Free University (Vrije Universiteit Brussel), Laarbeeklaan 101, 1090 Brussels, Belgium.

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http://dx.doi.org/10.1093/humrep/deh847DOI Listing
July 2005

Possible role of USP26 in patients with severely impaired spermatogenesis.

Eur J Hum Genet 2005 Mar;13(3):336-40

Center for Medical Genetics, University Hospital, Dutch-speaking Brussels Free University (Vrije Universiteit Brussel), Laarbeeklaan 101, Brussels, Belgium.

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http://dx.doi.org/10.1038/sj.ejhg.5201335DOI Listing
March 2005

Expression pattern of the Y-linked PRY gene suggests a function in apoptosis but not in spermatogenesis.

Mol Hum Reprod 2004 Jan;10(1):15-21

Center for Medical Genetics, University Hospital, Dutch-speaking Brussels Free University, Brussels, Belgium.

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http://dx.doi.org/10.1093/molehr/gah010DOI Listing
January 2004