Publications by authors named "Hannah Verdin"

24Publications

Microcoria due to first duplication of 13q32.1 including the GPR180 gene and maternal mosaicism.

Eur J Med Genet 2020 May 19;63(5):103918. Epub 2020 Mar 19.

Department of Ophthalmology, Children Hospital Queen Fabiola, Brussels, Belgium; Department of Ophthalmology, Ghent University Hospital, Belgium; Department of Ophthalmology, Leuven University Hospital, Belgium. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2020.103918DOI Listing
May 2020

Update on the genetics of differences of sex development (DSD).

Best Pract Res Clin Endocrinol Metab 2019 06 13;33(3):101271. Epub 2019 Apr 13.

Division of Pediatric Endocrinology, Department of Internal Medicine and Pediatrics, Ghent University Hospital and Ghent University, Ghent, Belgium. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.beem.2019.04.005DOI Listing
June 2019

Co-occurrence of congenital hydronephrosis and FOXL2-associated blepharophimosis, ptosis, epicanthus inversus syndrome (BPES).

Eur J Med Genet 2014 Oct 2;57(10):576-8. Epub 2014 Sep 2.

Center for Medical Genetics, Ghent University, Ghent University Hospital, Ghent, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2014.08.004DOI Listing
October 2014

Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type II.

Mol Vis 2012 26;18:211-8. Epub 2012 Jan 26.

Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3272052PMC
July 2012

FOXL2 impairment in human disease.

Horm Res Paediatr 2012 12;77(1):2-11. Epub 2012 Jan 12.

Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

View Article

Download full-text PDF

Source
https://www.karger.com/Article/FullText/335236
Publisher Site
http://dx.doi.org/10.1159/000335236DOI Listing
June 2012