Reyniers E - Search Results

1

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

2

Muscle pain as the only presenting symptom in a girl with dystrophinopathy.

Ceulemans BP, Storm K, Reyniers E Jr, Callewaert L, Martin JJ. Ceulemans BP, et al. Among authors: reyniers e jr. Pediatr Neurol. 2008 Jan;38(1):64-6. doi: 10.1016/j.pediatrneurol.2007.09.006. Pediatr Neurol. 2008. PMID: 18054699

3

Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene.

Wuyts W, Reyniers E, Ceuterick C, Storm K, de Barsy T, Martin JJ. Wuyts W, et al. Among authors: reyniers e. Am J Med Genet A. 2005 Feb 15;133A(1):82-4. doi: 10.1002/ajmg.a.30517. Am J Med Genet A. 2005. PMID: 15637709

4

Somatic and gonadal mosaicism in Hutchinson-Gilford progeria.

Wuyts W, Biervliet M, Reyniers E, D'Apice MR, Novelli G, Storm K. Wuyts W, et al. Among authors: reyniers e. Am J Med Genet A. 2005 May 15;135(1):66-8. doi: 10.1002/ajmg.a.30663. Am J Med Genet A. 2005. PMID: 15793835

5

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

6

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.

7

CAG repeat contraction in the androgen receptor gene in three brothers with mental retardation.

Kooy RF, Reyniers E, Storm K, Vits L, van Velzen D, de Ruiter PE, Brinkmann AO, de Paepe A, Willems PJ. Kooy RF, et al. Among authors: reyniers e. Am J Med Genet. 1999 Jul 30;85(3):209-13. Am J Med Genet. 1999. PMID: 10398229

8

PLCB1 epileptic encephalopathies; Review and expansion of the phenotypic spectrum.

Schoonjans AS, Meuwissen M, Reyniers E, Kooy F, Ceulemans B. Schoonjans AS, et al. Among authors: reyniers e. Eur J Paediatr Neurol. 2016 May;20(3):474-9. doi: 10.1016/j.ejpn.2016.01.002. Epub 2016 Jan 13. Eur J Paediatr Neurol. 2016. PMID: 26818157 Review.

9

Genetic Testing Contributes to Diagnosis in Cerebral Palsy: Aicardi-Goutières Syndrome as an Example.

Beysen D, De Cordt C, Dielman C, Ogunjimi B, Dandelooy J, Reyniers E, Janssens K, Meuwissen MME. Beysen D, et al. Among authors: reyniers e. Front Neurol. 2021 Apr 22;12:617813. doi: 10.3389/fneur.2021.617813. eCollection 2021. Front Neurol. 2021. PMID: 33967934 Free PMC article.

10

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

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