Verdin H - Search Results

1

Structural and numerical changes of chromosome X in patients with esophageal atresia.

Brosens E, de Jong EM, Barakat TS, Eussen BH, D'haene B, De Baere E, Verdin H, Poddighe PJ, Galjaard RJ, Gribnau J, Brooks AS, Tibboel D, de Klein A. Brosens E, et al. Among authors: verdin h. Eur J Hum Genet. 2014 Sep;22(9):1077-84. doi: 10.1038/ejhg.2013.295. Epub 2014 Jan 8. Eur J Hum Genet. 2014. PMID: 24398799 Free PMC article.

2

Identification of novel disease gene for primary congenital glaucoma (PCG) through homozygosity mapping and next-generation sequencing.

Verdin H, De Baere E, Kestelyn P. Verdin H, et al. Bull Soc Belge Ophtalmol. 2011;(317):49-50. Bull Soc Belge Ophtalmol. 2011. PMID: 21560857 No abstract available.

3

Blepharophimosis-ptosis-epicanthus inversus syndrome plus: deletion 3q22.3q23 in a patient with characteristic facial features and with genital anomalies, spastic diplegia, and speech delay.

Zahanova S, Meaney B, Łabieniec B, Verdin H, De Baere E, Nowaczyk MJM. Zahanova S, et al. Among authors: verdin h. Clin Dysmorphol. 2012 Jan;21(1):48-52. doi: 10.1097/MCD.0b013e32834977f1. Clin Dysmorphol. 2012. PMID: 21934608

4

FOXL2 impairment in human disease.

Verdin H, De Baere E. Verdin H, et al. Horm Res Paediatr. 2012;77(1):2-11. doi: 10.1159/000335236. Epub 2012 Jan 12. Horm Res Paediatr. 2012. PMID: 22248822 Free article. Review.

5

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

Haghighi A, Verdin H, Haghighi-Kakhki H, Piri N, Gohari NS, De Baere E. Haghighi A, et al. Among authors: verdin h. Mol Vis. 2012;18:211-8. Epub 2012 Jan 26. Mol Vis. 2012. PMID: 22312189 Free PMC article.

6

Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain.

Verdin H, D'haene B, Beysen D, Novikova Y, Menten B, Sante T, Lapunzina P, Nevado J, Carvalho CM, Lupski JR, De Baere E. Verdin H, et al. PLoS Genet. 2013;9(3):e1003358. doi: 10.1371/journal.pgen.1003358. Epub 2013 Mar 14. PLoS Genet. 2013. PMID: 23516377 Free PMC article.

7

Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics.

Verdin H, Sorokina EA, Meire F, Casteels I, de Ravel T, Semina EV, De Baere E. Verdin H, et al. Orphanet J Rare Dis. 2014 Feb 20;9:26. doi: 10.1186/1750-1172-9-26. Orphanet J Rare Dis. 2014. PMID: 24555714 Free PMC article.

8

Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.

Coppieters F, Van Schil K, Bauwens M, Verdin H, De Jaegher A, Syx D, Sante T, Lefever S, Abdelmoula NB, Depasse F, Casteels I, de Ravel T, Meire F, Leroy BP, De Baere E. Coppieters F, et al. Among authors: verdin h. Genet Med. 2014 Sep;16(9):671-80. doi: 10.1038/gim.2014.24. Epub 2014 Mar 13. Genet Med. 2014. PMID: 24625443 Free article.

9

Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion.

Van Schil K, Meire F, Karlstetter M, Bauwens M, Verdin H, Coppieters F, Scheiffert E, Van Nechel C, Langmann T, Deconinck N, De Baere E. Van Schil K, et al. Among authors: verdin h. Genet Med. 2015 Apr;17(4):291-9. doi: 10.1038/gim.2014.95. Epub 2014 Aug 14. Genet Med. 2015. PMID: 25122145 Free article.

10

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

Gulati R, Verdin H, Halanaik D, Bhat BV, De Baere E. Gulati R, et al. Among authors: verdin h. Eur J Med Genet. 2014 Oct;57(10):576-8. doi: 10.1016/j.ejmg.2014.08.004. Epub 2014 Sep 2. Eur J Med Genet. 2014. PMID: 25192944

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