Reyniers E - Search Results

1

Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes.

Smal N, Majdoub F, Janssens K, Reyniers E, Meuwissen MEC, Ceulemans B, Northrup H, Hill JB, Liu L, Errichiello E, Gana S, Strong A, Rohena L, Franciskovich R, Murali CN, Huybrechs A, Sulem T, Fridriksdottir R, Sulem P, Stefansson K, Bai Y, Rosenfeld JA, Lalani SR, Streff H; Undiagnosed Diseases Network; Kooy RF, Weckhuysen S. Smal N, et al. Among authors: reyniers e. Eur J Hum Genet. 2024 Nov;32(11):1378-1386. doi: 10.1038/s41431-024-01661-4. Epub 2024 Jul 4. Eur J Hum Genet. 2024. PMID: 38965372

2

Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency.

Guergueltcheva V, Peeters K, Baets J, Ceuterick-de Groote C, Martin JJ, Suls A, De Vriendt E, Mihaylova V, Chamova T, Almeida-Souza L, Ydens E, Tzekov C, Hadjidekov G, Gospodinova M, Storm K, Reyniers E, Bichev S, van der Ven PF, Fürst DO, Mitev V, Lochmüller H, Timmerman V, Tournev I, De Jonghe P, Jordanova A. Guergueltcheva V, et al. Among authors: reyniers e. Neurology. 2011 Dec 13;77(24):2105-14. doi: 10.1212/WNL.0b013e31823dc51e. Epub 2011 Nov 30. Neurology. 2011. PMID: 22131542

3

Alternative splicing in the fragile X gene FMR1.

Verkerk AJ, de Graaff E, De Boulle K, Eichler EE, Konecki DS, Reyniers E, Manca A, Poustka A, Willems PJ, Nelson DL, et al. Verkerk AJ, et al. Among authors: reyniers e. Hum Mol Genet. 1993 Aug;2(8):1348. doi: 10.1093/hmg/2.8.1348. Hum Mol Genet. 1993. PMID: 8401531 No abstract available.

4

A de novo subtelomeric monosomy 11q (11q24.2-qter) and trisomy 20q (20q13.3-qter) in a girl with findings compatible with Jacobsen syndrome: case report and review.

Courtens W, Wauters J, Wojciechowski M, Reyniers E, Scheers S, van Luijk R, Rooms L, Kooy F, Wuyts W. Courtens W, et al. Among authors: reyniers e. Clin Dysmorphol. 2007 Oct;16(4):231-9. doi: 10.1097/MCD.0b013e3282742303. Clin Dysmorphol. 2007. PMID: 17786114 Review.

5

Mean corpuscular hemoglobin is not increased in Fmr1 knockout mice.

Reyniers E, Van Bockstaele DR, De Boulle K, Kooy RF, Bakker CE, Oostra BA, Willems PJ. Reyniers E, et al. Hum Genet. 1996 Jan;97(1):49-50. doi: 10.1007/BF00218832. Hum Genet. 1996. PMID: 8557260

6

Transgenic mouse model for the fragile X syndrome.

Kooy RF, D'Hooge R, Reyniers E, Bakker CE, Nagels G, De Boulle K, Storm K, Clincke G, De Deyn PP, Oostra BA, Willems PJ. Kooy RF, et al. Among authors: reyniers e. Am J Med Genet. 1996 Aug 9;64(2):241-5. doi: 10.1002/(SICI)1096-8628(19960809)64:2<241::AID-AJMG1>3.0.CO;2-X. Am J Med Genet. 1996. PMID: 8844056

7

Severe mental retardation and macroorchidism without mutation in the FMR1 gene.

Reyniers E, Wolff G, Tariverdian G, De Boulle K, Storm K, Kooy RF, Willems PJ. Reyniers E, et al. Am J Med Genet. 1996 Aug 9;64(2):408-12. doi: 10.1002/(SICI)1096-8628(19960809)64:2<408::AID-AJMG35>3.0.CO;2-H. Am J Med Genet. 1996. PMID: 8844093 Review.

8

Incomplete EcoRI digestion may lead to false diagnosis of fragile X syndrome.

Storm K, Handig I, Reyniers E, Oostra BA, Kooy RF, Willems PJ. Storm K, et al. Among authors: reyniers e. Hum Genet. 1998 Jan;102(1):54-6. doi: 10.1007/s004390050653. Hum Genet. 1998. PMID: 9490298

9

L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns.

Fransen E, D'Hooge R, Van Camp G, Verhoye M, Sijbers J, Reyniers E, Soriano P, Kamiguchi H, Willemsen R, Koekkoek SK, De Zeeuw CI, De Deyn PP, Van der Linden A, Lemmon V, Kooy RF, Willems PJ. Fransen E, et al. Among authors: reyniers e. Hum Mol Genet. 1998 Jun;7(6):999-1009. doi: 10.1093/hmg/7.6.999. Hum Mol Genet. 1998. PMID: 9580664

10

Postmortem examination of two fragile X brothers with an FMR1 full mutation.

Reyniers E, Martin JJ, Cras P, Van Marck E, Handig I, Jorens HZ, Oostra BA, Kooy RF, Willems PJ. Reyniers E, et al. Am J Med Genet. 1999 May 28;84(3):245-9. doi: 10.1002/(sici)1096-8628(19990528)84:3<245::aid-ajmg16>3.0.co;2-u. Am J Med Genet. 1999. PMID: 10331601

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