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The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability.
Vandewalle J, Bauters M, Van Esch H, Belet S, Verbeeck J, Fieremans N, Holvoet M, Vento J, Spreiz A, Kotzot D, Haberlandt E, Rosenfeld J, Andrieux J, Delobel B, Dehouck MB, Devriendt K, Fryns JP, Marynen P, Goldstein A, Froyen G. Vandewalle J, et al. Among authors: froyen g. Hum Genet. 2013 Oct;132(10):1177-85. doi: 10.1007/s00439-013-1322-3. Epub 2013 Jun 20. Hum Genet. 2013. PMID: 23783460
A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients.
Longo I, Frints SG, Fryns JP, Meloni I, Pescucci C, Ariani F, Borghgraef M, Raynaud M, Marynen P, Schwartz C, Renieri A, Froyen G. Longo I, et al. Among authors: froyen g. J Med Genet. 2003 Jan;40(1):11-7. doi: 10.1136/jmg.40.1.11. J Med Genet. 2003. PMID: 12525535 Free PMC article.
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: froyen g. 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
Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map.
Van Buggenhout G, Melotte C, Dutta B, Froyen G, Van Hummelen P, Marynen P, Matthijs G, de Ravel T, Devriendt K, Fryns JP, Vermeesch JR. Van Buggenhout G, et al. Among authors: froyen g. J Med Genet. 2004 Sep;41(9):691-8. doi: 10.1136/jmg.2003.016865. J Med Genet. 2004. PMID: 15342700 Free PMC article. No abstract available.
98 results