Schrauwen I - Search Results

1

A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria.

Salokivi T, Parkkola R, Rajendran Y, Bharadwaj T, Acharya A, Leal SM, Järvelä I, Arvio M, Schrauwen I. Salokivi T, et al. Among authors: schrauwen i. Am J Med Genet A. 2024 Apr;194(4):e63478. doi: 10.1002/ajmg.a.63478. Epub 2023 Nov 17. Am J Med Genet A. 2024. PMID: 37975178

2

Characterization of X chromosome inactivation using integrated analysis of whole-exome and mRNA sequencing.

Szelinger S, Malenica I, Corneveaux JJ, Siniard AL, Kurdoglu AA, Ramsey KM, Schrauwen I, Trent JM, Narayanan V, Huentelman MJ, Craig DW. Szelinger S, et al. Among authors: schrauwen i. PLoS One. 2014 Dec 12;9(12):e113036. doi: 10.1371/journal.pone.0113036. eCollection 2014. PLoS One. 2014. PMID: 25503791 Free PMC article.

3

De novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness.

Schrauwen I, Kari E, Mattox J, Llaci L, Smeeton J, Naymik M, Raible DW, Knowles JA, Crump JG, Huentelman MJ, Friedman RA. Schrauwen I, et al. Hum Genet. 2018 Jul;137(6-7):459-470. doi: 10.1007/s00439-018-1898-8. Epub 2018 Jun 28. Hum Genet. 2018. PMID: 29955957 Free PMC article.

4

DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.

Sommen M, Schrauwen I, Vandeweyer G, Boeckx N, Corneveaux JJ, van den Ende J, Boudewyns A, De Leenheer E, Janssens S, Claes K, Verstreken M, Strenzke N, Predöhl F, Wuyts W, Mortier G, Bitner-Glindzicz M, Moser T, Coucke P, Huentelman MJ, Van Camp G. Sommen M, et al. Among authors: schrauwen i. Hum Mutat. 2016 Aug;37(8):812-9. doi: 10.1002/humu.22999. Epub 2016 May 6. Hum Mutat. 2016. PMID: 27068579

5

Family history of Alzheimer's disease alters cognition and is modified by medical and genetic factors.

Talboom JS, Håberg A, De Both MD, Naymik MA, Schrauwen I, Lewis CR, Bertinelli SF, Hammersland C, Fritz MA, Myers AJ, Hay M, Barnes CA, Glisky E, Ryan L, Huentelman MJ. Talboom JS, et al. Among authors: schrauwen i. Elife. 2019 Jun 18;8:e46179. doi: 10.7554/eLife.46179. Elife. 2019. PMID: 31210642 Free PMC article.

6

Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complex.

Wie J, Bharthur A, Wolfgang M, Narayanan V, Ramsey K; C4RCD Research Group; Aranda K, Zhang Q, Zhou Y, Ren D. Wie J, et al. Nat Commun. 2020 Jul 3;11(1):3351. doi: 10.1038/s41467-020-17105-8. Nat Commun. 2020. PMID: 32620897 Free PMC article.

7

Variants in triggering receptor expressed on myeloid cells 2 are associated with both behavioral variant frontotemporal lobar degeneration and Alzheimer's disease.

Giraldo M, Lopera F, Siniard AL, Corneveaux JJ, Schrauwen I, Carvajal J, Muñoz C, Ramirez-Restrepo M, Gaiteri C, Myers AJ, Caselli RJ, Kosik KS, Reiman EM, Huentelman MJ. Giraldo M, et al. Among authors: schrauwen i. Neurobiol Aging. 2013 Aug;34(8):2077.e11-8. doi: 10.1016/j.neurobiolaging.2013.02.016. Epub 2013 Apr 9. Neurobiol Aging. 2013. PMID: 23582655 Free PMC article.

8

Whole transcriptome profiling of the human hippocampus suggests an involvement of the KIBRA rs17070145 polymorphism in differential activation of the MAPK signaling pathway.

Piras IS, Krate J, Schrauwen I, Corneveaux JJ, Serrano GE, Sue L, Beach TG, Huentelman MJ. Piras IS, et al. Among authors: schrauwen i. Hippocampus. 2017 Jul;27(7):784-793. doi: 10.1002/hipo.22731. Epub 2017 Apr 22. Hippocampus. 2017. PMID: 28380666 Free PMC article.

9

Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.

Fransen E, Bonneux S, Corneveaux JJ, Schrauwen I, Di Berardino F, White CH, Ohmen JD, Van de Heyning P, Ambrosetti U, Huentelman MJ, Van Camp G, Friedman RA. Fransen E, et al. Among authors: schrauwen i. Eur J Hum Genet. 2015 Jan;23(1):110-5. doi: 10.1038/ejhg.2014.56. Epub 2014 Jun 18. Eur J Hum Genet. 2015. PMID: 24939585 Free PMC article.

10

A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13-16.1.

Thys M, Van Den Bogaert K, Iliadou V, Vanderstraeten K, Dieltjens N, Schrauwen I, Chen W, Eleftheriades N, Grigoriadou M, Pauw RJ, Cremers CR, Smith RJ, Petersen MB, Van Camp G. Thys M, et al. Among authors: schrauwen i. Eur J Hum Genet. 2007 Mar;15(3):362-8. doi: 10.1038/sj.ejhg.5201761. Epub 2007 Jan 10. Eur J Hum Genet. 2007. PMID: 17213839

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