Reyniers E - Search Results

1

Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features.

Stolerman ES, Francisco E, Stallworth JL, Jones JR, Monaghan KG, Keller-Ramey J, Person R, Wentzensen IM, McWalter K, Keren B, Heron B, Nava C, Heron D, Kim K, Burton B, Al-Musafri F, O'Grady L, Sahai I, Escobar LF, Meuwissen M, Reyniers E, Kooy F, Lacassie Y, Gunay-Aygun M, Schatz KS, Hochstenbach R, Zwijnenburg PJG, Waisfisz Q, van Slegtenhorst M, Mancini GMS, Louie RJ. Stolerman ES, et al. Among authors: reyniers e. Am J Med Genet A. 2019 Jul;179(7):1276-1286. doi: 10.1002/ajmg.a.61173. Epub 2019 May 23. Am J Med Genet A. 2019. PMID: 31124279

2

Novel BRPF1 mutation in a boy with intellectual disability, coloboma, facial nerve palsy and hypoplasia of the corpus callosum.

Demeulenaere S, Beysen D, De Veuster I, Reyniers E, Kooy F, Meuwissen M. Demeulenaere S, et al. Among authors: reyniers e. Eur J Med Genet. 2019 Aug;62(8):103691. doi: 10.1016/j.ejmg.2019.103691. Epub 2019 Jun 6. Eur J Med Genet. 2019. PMID: 31176769

3

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.

4

A de novo subterminal trisomy 10p and monosomy 18q in a girl with MCA/MR: case report and review.

Courtens W, Wuyts W, Scheers S, Van Luijk R, Reyniers E, Rooms L, Ceulemans B, Kooy F, Wauters J. Courtens W, et al. Among authors: reyniers e. Eur J Med Genet. 2006 Sep-Oct;49(5):402-13. doi: 10.1016/j.ejmg.2006.01.001. Epub 2006 Jan 30. Eur J Med Genet. 2006. PMID: 16488200 Review.

5

Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities.

Van Dijck A, van der Werf IM, Reyniers E, Scheers S, Azage M, Siefkas K, Van der Aa N, Lacroix A, Rosenfeld J, Argiropoulos B, Davis K, Innes AM, Mefford HC, Mortier G, Meuwissen M, Kooy RF. Van Dijck A, et al. Among authors: reyniers e. Eur J Med Genet. 2015 Oct;58(10):503-8. doi: 10.1016/j.ejmg.2015.08.004. Epub 2015 Aug 29. Eur J Med Genet. 2015. PMID: 26327614

6

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.

7

Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype.

van Bever Y, Rooms L, Laridon A, Reyniers E, van Luijk R, Scheers S, Wauters J, Kooy RF. van Bever Y, et al. Among authors: reyniers e. Am J Med Genet A. 2005 May 15;135(1):91-5. doi: 10.1002/ajmg.a.30695. Am J Med Genet A. 2005. PMID: 15822126 Review.

8

Family MRX9 revisited: further evidence for locus heterogeneity in MRX.

Winnepenninckx B, Errijgers V, Reyniers E, De Deyn PP, Abidi FE, Schwartz CE, Kooy RF. Winnepenninckx B, et al. Among authors: reyniers e. Am J Med Genet. 2002 Sep 15;112(1):17-22. doi: 10.1002/ajmg.10663. Am J Med Genet. 2002. PMID: 12239714

9

Array-based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation.

Rooms L, Vandeweyer G, Reyniers E, van Mol K, de Canck I, Van der Aa N, Rossau R, Kooy RF. Rooms L, et al. Among authors: reyniers e. Am J Med Genet A. 2011 Feb;155A(2):343-8. doi: 10.1002/ajmg.a.33810. Epub 2011 Jan 14. Am J Med Genet A. 2011. PMID: 21271651

10

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.

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