Redeker EJ - Search Results

1

Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndrome.

Bhuiyan ZA, Stewart H, Redeker EJ, Mannens MM, Hennekam RC. Bhuiyan ZA, et al. Among authors: redeker ej. Eur J Hum Genet. 2007 Apr;15(4):505-8. doi: 10.1038/sj.ejhg.5201776. Epub 2007 Jan 31. Eur J Hum Genet. 2007. PMID: 17264868

2

High rate of mosaicism in individuals with Cornelia de Lange syndrome.

Huisman SA, Redeker EJ, Maas SM, Mannens MM, Hennekam RC. Huisman SA, et al. Among authors: redeker ej. J Med Genet. 2013 May;50(5):339-44. doi: 10.1136/jmedgenet-2012-101477. Epub 2013 Mar 15. J Med Genet. 2013. PMID: 23505322

3

Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders.

Redeker EJ, de Visser AS, Bergen AA, Mannens MM. Redeker EJ, et al. Mol Vis. 2008 May 7;14:836-40. Mol Vis. 2008. PMID: 18483559 Free PMC article.

4

Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands.

Lombardi MP, Redeker EJ, Defesche JC, Kamerling SW, Trip MD, Mannens MM, Havekes LM, Kastelein JJ. Lombardi MP, et al. Among authors: redeker ej. Clin Genet. 2000 Feb;57(2):116-24. doi: 10.1034/j.1399-0004.2000.570205.x. Clin Genet. 2000. PMID: 10735632

5

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

Ansari M, Poke G, Ferry Q, Williamson K, Aldridge R, Meynert AM, Bengani H, Chan CY, Kayserili H, Avci S, Hennekam RC, Lampe AK, Redeker E, Homfray T, Ross A, Falkenberg Smeland M, Mansour S, Parker MJ, Cook JA, Splitt M, Fisher RB, Fryer A, Magee AC, Wilkie A, Barnicoat A, Brady AF, Cooper NS, Mercer C, Deshpande C, Bennett CP, Pilz DT, Ruddy D, Cilliers D, Johnson DS, Josifova D, Rosser E, Thompson EM, Wakeling E, Kinning E, Stewart F, Flinter F, Girisha KM, Cox H, Firth HV, Kingston H, Wee JS, Hurst JA, Clayton-Smith J, Tolmie J, Vogt J, Tatton-Brown K, Chandler K, Prescott K, Wilson L, Behnam M, McEntagart M, Davidson R, Lynch SA, Sisodiya S, Mehta SG, McKee SA, Mohammed S, Holden S, Park SM, Holder SE, Harrison V, McConnell V, Lam WK, Green AJ, Donnai D, Bitner-Glindzicz M, Donnelly DE, Nellåker C, Taylor MS, FitzPatrick DR. Ansari M, et al. J Med Genet. 2014 Oct;51(10):659-68. doi: 10.1136/jmedgenet-2014-102573. Epub 2014 Aug 14. J Med Genet. 2014. PMID: 25125236 Free PMC article.

6

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.

Kline AD, Moss JF, Selicorni A, Bisgaard AM, Deardorff MA, Gillett PM, Ishman SL, Kerr LM, Levin AV, Mulder PA, Ramos FJ, Wierzba J, Ajmone PF, Axtell D, Blagowidow N, Cereda A, Costantino A, Cormier-Daire V, FitzPatrick D, Grados M, Groves L, Guthrie W, Huisman S, Kaiser FJ, Koekkoek G, Levis M, Mariani M, McCleery JP, Menke LA, Metrena A, O'Connor J, Oliver C, Pie J, Piening S, Potter CJ, Quaglio AL, Redeker E, Richman D, Rigamonti C, Shi A, Tümer Z, Van Balkom IDC, Hennekam RC. Kline AD, et al. Nat Rev Genet. 2018 Oct;19(10):649-666. doi: 10.1038/s41576-018-0031-0. Nat Rev Genet. 2018. PMID: 29995837 Free PMC article. Review.

7

Increased DNA damage sensitivity of Cornelia de Lange syndrome cells: evidence for impaired recombinational repair.

Vrouwe MG, Elghalbzouri-Maghrani E, Meijers M, Schouten P, Godthelp BC, Bhuiyan ZA, Redeker EJ, Mannens MM, Mullenders LH, Pastink A, Darroudi F. Vrouwe MG, et al. Among authors: redeker ej. Hum Mol Genet. 2007 Jun 15;16(12):1478-87. doi: 10.1093/hmg/ddm098. Epub 2007 Apr 27. Hum Mol Genet. 2007. PMID: 17468178

8

Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience.

van Karnebeek CD, Koevoets C, Sluijter S, Bijlsma EK, Smeets DF, Redeker EJ, Hennekam RC, Hoovers JM. van Karnebeek CD, et al. Among authors: redeker ej. J Med Genet. 2002 Aug;39(8):546-53. doi: 10.1136/jmg.39.8.546. J Med Genet. 2002. PMID: 12161591 Free PMC article.

9

Parental imprinting of human chromosome region 11p15.3-pter involved in the Beckwith-Wiedemann syndrome and various human neoplasia.

Mannens M, Hoovers JM, Redeker E, Verjaal M, Feinberg AP, Little P, Boavida M, Coad N, Steenman M, Bliek J, et al. Mannens M, et al. Eur J Hum Genet. 1994;2(1):3-23. doi: 10.1159/000472337. Eur J Hum Genet. 1994. PMID: 7913866

10

Phenotypes and genotypes in individuals with SMC1A variants.

Huisman S, Mulder PA, Redeker E, Bader I, Bisgaard AM, Brooks A, Cereda A, Cinca C, Clark D, Cormier-Daire V, Deardorff MA, Diderich K, Elting M, van Essen A, FitzPatrick D, Gervasini C, Gillessen-Kaesbach G, Girisha KM, Hilhorst-Hofstee Y, Hopman S, Horn D, Isrie M, Jansen S, Jespersgaard C, Kaiser FJ, Kaur M, Kleefstra T, Krantz ID, Lakeman P, Landlust A, Lessel D, Michot C, Moss J, Noon SE, Oliver C, Parenti I, Pie J, Ramos FJ, Rieubland C, Russo S, Selicorni A, Tümer Z, Vorstenbosch R, Wenger TL, van Balkom I, Piening S, Wierzba J, Hennekam RC. Huisman S, et al. Am J Med Genet A. 2017 Aug;173(8):2108-2125. doi: 10.1002/ajmg.a.38279. Epub 2017 May 26. Am J Med Genet A. 2017. PMID: 28548707

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