Marynen P - Search Results

1

Clinical study and haplotype analysis in two brothers with Partington syndrome.

Frints SG, Borghgraef M, Froyen G, Marynen P, Fryns JP. Frints SG, et al. Among authors: marynen p. Am J Med Genet. 2002 Nov 1;112(4):361-8. doi: 10.1002/ajmg.10630. Am J Med Genet. 2002. PMID: 12376938

2

Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.

Vandewalle J, Van Esch H, Govaerts K, Verbeeck J, Zweier C, Madrigal I, Mila M, Pijkels E, Fernandez I, Kohlhase J, Spaich C, Rauch A, Fryns JP, Marynen P, Froyen G. Vandewalle J, et al. Among authors: marynen p. Am J Hum Genet. 2009 Dec;85(6):809-22. doi: 10.1016/j.ajhg.2009.10.019. Am J Hum Genet. 2009. PMID: 20004760 Free PMC article.

3

Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects.

Bauters M, Frints SG, Van Esch H, Spruijt L, Baldewijns MM, de Die-Smulders CE, Fryns JP, Marynen P, Froyen G. Bauters M, et al. Among authors: marynen p. Am J Med Genet A. 2014 Aug;164A(8):1947-52. doi: 10.1002/ajmg.a.36580. Epub 2014 Apr 15. Am J Med Genet A. 2014. PMID: 24737742

4

Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis.

Van Esch H, Hollanders K, Badisco L, Melotte C, Van Hummelen P, Vermeesch JR, Devriendt K, Fryns JP, Marynen P, Froyen G. Van Esch H, et al. Among authors: marynen p. Hum Mol Genet. 2005 Jul 1;14(13):1795-803. doi: 10.1093/hmg/ddi186. Epub 2005 May 11. Hum Mol Genet. 2005. PMID: 15888481

5

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.

Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gecz J, Moraine C, Marynen P, Fryns JP, Froyen G. Van Esch H, et al. Among authors: marynen p. Am J Hum Genet. 2005 Sep;77(3):442-53. doi: 10.1086/444549. Epub 2005 Jul 29. Am J Hum Genet. 2005. PMID: 16080119 Free PMC article.

6

Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region.

Froyen G, Bauters M, Boyle J, Van Esch H, Govaerts K, van Bokhoven H, Ropers HH, Moraine C, Chelly J, Fryns JP, Marynen P, Gecz J, Turner G. Froyen G, et al. Among authors: marynen p. Hum Genet. 2007 Jun;121(5):539-47. doi: 10.1007/s00439-007-0343-1. Epub 2007 Feb 28. Hum Genet. 2007. PMID: 17333282

7

Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome.

Frints SG, Froyen G, Marynen P, Willekens D, Legius E, Fryns JP. Frints SG, et al. Among authors: marynen p. Am J Med Genet. 2002 Nov 1;112(4):427-8. doi: 10.1002/ajmg.10628. Am J Med Genet. 2002. PMID: 12376949 No abstract available.

8

Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene.

Frints SG, Jun L, Fryns JP, Devriendt K, Teulingkx R, Van den Berghe L, De Vos B, Borghgraef M, Chelly J, Des Portes V, Van Bokhoven H, Hamel B, Ropers HH, Kalscheuer V, Raynaud M, Moraine C, Marynen P, Froyen G. Frints SG, et al. Among authors: marynen p. Am J Med Genet A. 2003 Jun 15;119A(3):367-74. doi: 10.1002/ajmg.a.20195. Am J Med Genet A. 2003. PMID: 12784308

9

CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behavior.

Frints SG, Marynen P, Hartmann D, Fryns JP, Steyaert J, Schachner M, Rolf B, Craessaerts K, Snellinx A, Hollanders K, D'Hooge R, De Deyn PP, Froyen G. Frints SG, et al. Among authors: marynen p. Hum Mol Genet. 2003 Jul 1;12(13):1463-74. doi: 10.1093/hmg/ddg165. Hum Mol Genet. 2003. PMID: 12812975

10

Localisation of a new gene for non-specific mental retardation to Xq22-q26 (MRX35).

Gu XX, Decorte R, Marynen P, Fryns JP, Cassiman JJ, Raeymaekers P. Gu XX, et al. Among authors: marynen p. J Med Genet. 1996 Jan;33(1):52-5. doi: 10.1136/jmg.33.1.52. J Med Genet. 1996. PMID: 8825049 Free PMC article.

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