De Baere E - Search Results

1

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: de baere e. 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.

2

Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1.

D'haene B, Hellemans J, Craen M, De Schepper J, Devriendt K, Fryns JP, Keymolen K, Debals E, de Klein A, de Jong EM, Segers K, De Paepe A, Mortier G, Vandesompele J, De Baere E. D'haene B, et al. Among authors: de paepe a, de klein a, de jong em, de schepper j, de baere e. J Clin Endocrinol Metab. 2010 Jun;95(6):3010-8. doi: 10.1210/jc.2009-2218. Epub 2010 Apr 7. J Clin Endocrinol Metab. 2010. PMID: 20375215

3

Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development.

Baetens D, Mladenov W, Delle Chiaie B, Menten B, Desloovere A, Iotova V, Callewaert B, Van Laecke E, Hoebeke P, De Baere E, Cools M. Baetens D, et al. Among authors: de baere e. Orphanet J Rare Dis. 2014 Dec 14;9:209. doi: 10.1186/s13023-014-0209-2. Orphanet J Rare Dis. 2014. PMID: 25497574 Free PMC article.

4

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

Baetens D, Stoop H, Peelman F, Todeschini AL, Rosseel T, Coppieters F, Veitia RA, Looijenga LH, De Baere E, Cools M. Baetens D, et al. Among authors: de baere e. Genet Med. 2017 Apr;19(4):367-376. doi: 10.1038/gim.2016.118. Epub 2016 Aug 4. Genet Med. 2017. PMID: 27490115 Free PMC article.

5

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: de baere e. Clin Genet. 2017 Feb;91(2):163-172. doi: 10.1111/cge.12911. Clin Genet. 2017. PMID: 27801941 Review.

6

Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development.

Baetens D, Güran T, Mendonca BB, Gomes NL, De Cauwer L, Peelman F, Verdin H, Vuylsteke M, Van der Linden M; ESR2 STUDY GROUP, Atay Z, Bereket A, de Krijger RR, Preter K, Domenice S, Turan S, Stoop H, Looijenga LH, De Bosscher K, Cools M, De Baere E. Baetens D, et al. Among authors: de bosscher k, de cauwer l, de baere e, de krijger rr. Genet Med. 2018 Jul;20(7):717-727. doi: 10.1038/gim.2017.163. Epub 2017 Oct 26. Genet Med. 2018. PMID: 29261182 Free article.

7

Expanding the clinical spectrum and management of Traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in ASPH.

Van Hoorde T, Nerinckx F, Kreps E, Roels D, Huyghe P, Van Heetvelde M, Verdin H, De Baere E, Balikova I, Leroy BP. Van Hoorde T, et al. Among authors: de baere e. Ophthalmic Genet. 2021 Aug;42(4):493-499. doi: 10.1080/13816810.2021.1923039. Epub 2021 May 21. Ophthalmic Genet. 2021. PMID: 34018898

8

FOXL2 impairment in human disease.

Verdin H, De Baere E. Verdin H, et al. Among authors: de baere e. 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.

9

Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis.

Coppieters F, De Wilde B, Lefever S, De Meester E, De Rocker N, Van Cauwenbergh C, Pattyn F, Meire F, Leroy BP, Hellemans J, Vandesompele J, De Baere E. Coppieters F, et al. Among authors: de rocker n, de wilde b, de meester e, de baere e. Genet Med. 2012 Jun;14(6):576-85. doi: 10.1038/gim.2011.51. Epub 2012 Jan 26. Genet Med. 2012. PMID: 22261762 Free article.

10

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. Among authors: de baere e. PLoS Genet. 2013;9(3):e1003358. doi: 10.1371/journal.pgen.1003358. Epub 2013 Mar 14. PLoS Genet. 2013. PMID: 23516377 Free PMC article.

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