Peeters N - Search Results

1

Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes.

Proost D, Vandeweyer G, Meester JA, Salemink S, Kempers M, Ingram C, Peeters N, Saenen J, Vrints C, Lacro RV, Roden D, Wuyts W, Dietz HC, Mortier G, Loeys BL, Van Laer L. Proost D, et al. Among authors: peeters n. Hum Mutat. 2015 Aug;36(8):808-14. doi: 10.1002/humu.22802. Epub 2015 Jun 13. Hum Mutat. 2015. PMID: 25907466

2

Mutation analysis of mitochondrial DNA 12SrRNA and tRNASer(UCN) genes in non-syndromic hearing loss patients.

Konings A, Van Camp G, Goethals A, Van Eyken E, Vandevelde A, Ben Azza J, Peeters N, Wuyts W, Smeets H, Van Laer L. Konings A, et al. Among authors: peeters n. Mitochondrion. 2008 Dec;8(5-6):377-82. doi: 10.1016/j.mito.2008.08.001. Epub 2008 Aug 26. Mitochondrion. 2008. PMID: 18790089

3

Novel human pathological mutations. Gene symbol: SLC26A4. Disease: Deafness, non-syndromic, autosomal recessive.

Alasti F, Peeters N, Wuyts W, Sanati MH, Van Camp G. Alasti F, et al. Among authors: peeters n. Hum Genet. 2010 Jan;127(1):116. Hum Genet. 2010. PMID: 20108392 No abstract available.

4

Novel human pathological mutations. Gene symbol: SLC26A4. Disease: Pendred syndrome.

Tabatabaiefar MA, Alasti F, Peeters N, Wuyts W, Nooridaloii MR, Chaleshtori MH, Van Camp G. Tabatabaiefar MA, et al. Among authors: peeters n. Hum Genet. 2010 Apr;127(4):468-9. Hum Genet. 2010. PMID: 21488234 No abstract available.

5

Novel human pathological mutations. Gene symbol: SLC26A4. Disease: deafness, non-syndromic, autosomal recessive.

Alasti F, Peeters N, Wuyts W, Sanati MH, Van Camp G. Alasti F, et al. Among authors: peeters n. Hum Genet. 2010 Apr;127(4):471. Hum Genet. 2010. PMID: 21488278 No abstract available.

6

Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype.

Wischmeijer A, Van Laer L, Tortora G, Bolar NA, Van Camp G, Fransen E, Peeters N, di Bartolomeo R, Pacini D, Gargiulo G, Turci S, Bonvicini M, Mariucci E, Lovato L, Brusori S, Ritelli M, Colombi M, Garavelli L, Seri M, Loeys BL. Wischmeijer A, et al. Among authors: peeters n. Am J Med Genet A. 2013 May;161A(5):1028-35. doi: 10.1002/ajmg.a.35852. Epub 2013 Mar 29. Am J Med Genet A. 2013. PMID: 23554019

7

Two novel MYLK nonsense mutations causing thoracic aortic aneurysms/dissections in patients without apparent family history.

Luyckx I, Proost D, Hendriks JMH, Saenen J, Van Craenenbroeck EM, Vermeulen T, Peeters N, Wuyts W, Rodrigus I, Verstraeten A, Van Laer L, Loeys BL. Luyckx I, et al. Among authors: peeters n. Clin Genet. 2017 Oct;92(4):444-446. doi: 10.1111/cge.13000. Epub 2017 Apr 12. Clin Genet. 2017. PMID: 28401540 No abstract available.

8

Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment.

JanssensdeVarebeke SPF, Van Camp G, Peeters N, Elinck E, Widdershoven J, Cox T, Deben K, Ketelslagers K, Crins T, Wuyts W. JanssensdeVarebeke SPF, et al. Among authors: peeters n. Eur J Hum Genet. 2018 Apr;26(4):587-591. doi: 10.1038/s41431-017-0066-2. Epub 2018 Feb 15. Eur J Hum Genet. 2018. PMID: 29449721 Free PMC article.

9

Role of Targeted Next Generation Sequencing in the Etiological Work-Up of Congenitally Deaf Children.

Boudewyns A, van den Ende J, Sommen M, Wuyts W, Peeters N, Van de Heyning P, Van Camp G. Boudewyns A, et al. Among authors: peeters n. Otol Neurotol. 2018 Jul;39(6):732-738. doi: 10.1097/MAO.0000000000001847. Otol Neurotol. 2018. PMID: 29889784

10

Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype.

Cannaerts E, Kempers M, Maugeri A, Marcelis C, Gardeitchik T, Richer J, Micha D, Beauchesne L, Timmermans J, Vermeersch P, Meyten N, Chénier S, van de Beek G, Peeters N, Alaerts M, Schepers D, Van Laer L, Verstraeten A, Loeys B. Cannaerts E, et al. Among authors: peeters n. J Med Genet. 2019 Apr;56(4):220-227. doi: 10.1136/jmedgenet-2018-105304. Epub 2018 Jul 2. J Med Genet. 2019. PMID: 29967133

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