Verdin H - Search Results

1

Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer.

Yan K, Rousseau J, Machol K, Cross LA, Agre KE, Gibson CF, Goverde A, Engleman KL, Verdin H, De Baere E, Potocki L, Zhou D, Cadieux-Dion M, Bellus GA, Wagner MD, Hale RJ, Esber N, Riley AF, Solomon BD, Cho MT, McWalter K, Eyal R, Hainlen MK, Mendelsohn BA, Porter HM, Lanpher BC, Lewis AM, Savatt J, Thiffault I, Callewaert B, Campeau PM, Yang XJ. Yan K, et al. Among authors: verdin h. Sci Adv. 2020 Jan 22;6(4):eaax0021. doi: 10.1126/sciadv.aax0021. eCollection 2020 Jan. Sci Adv. 2020. PMID: 32010779 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 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

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

9

Non-coding variation in disorders of sex development.

Baetens D, Mendonça BB, Verdin H, Cools M, De Baere E. Baetens D, et al. Among authors: verdin h. Clin Genet. 2017 Feb;91(2):163-172. doi: 10.1111/cge.12911. Clin Genet. 2017. PMID: 27801941 Review.

10

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

Baetens D, Verdin H, De Baere E, Cools M. Baetens D, et al. Among authors: verdin h. Best Pract Res Clin Endocrinol Metab. 2019 Jun;33(3):101271. doi: 10.1016/j.beem.2019.04.005. Epub 2019 Apr 13. Best Pract Res Clin Endocrinol Metab. 2019. PMID: 31005504 Review.

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