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Page 1
Mutations in ZBTB20 cause Primrose syndrome.
Cordeddu V, Redeker B, Stellacci E, Jongejan A, Fragale A, Bradley TE, Anselmi M, Ciolfi A, Cecchetti S, Muto V, Bernardini L, Azage M, Carvalho DR, Espay AJ, Male A, Molin AM, Posmyk R, Battisti C, Casertano A, Melis D, van Kampen A, Baas F, Mannens MM, Bocchinfuso G, Stella L, Tartaglia M, Hennekam RC. Cordeddu V, et al. Among authors: redeker b. Nat Genet. 2014 Aug;46(8):815-7. doi: 10.1038/ng.3035. Epub 2014 Jul 13. Nat Genet. 2014. PMID: 25017102
A specific mutation in TBL1XR1 causes Pierpont syndrome.
Heinen CA, Jongejan A, Watson PJ, Redeker B, Boelen A, Boudzovitch-Surovtseva O, Forzano F, Hordijk R, Kelley R, Olney AH, Pierpont ME, Schaefer GB, Stewart F, van Trotsenburg AS, Fliers E, Schwabe JW, Hennekam RC. Heinen CA, et al. Among authors: redeker b. J Med Genet. 2016 May;53(5):330-7. doi: 10.1136/jmedgenet-2015-103233. Epub 2016 Jan 14. J Med Genet. 2016. PMID: 26769062 Free PMC article.
Comparative genomic hybridization analysis of Wilms tumors.
Steenman M, Redeker B, de Meulemeester M, Wiesmeijer K, Voûte PA, Westerveld A, Slater R, Mannens M. Steenman M, et al. Among authors: redeker b. Cytogenet Cell Genet. 1997;77(3-4):296-303. doi: 10.1159/000134602. Cytogenet Cell Genet. 1997. PMID: 9284942
Multiple genetic loci within 11p15 defined by Beckwith-Wiedemann syndrome rearrangement breakpoints and subchromosomal transferable fragments.
Hoovers JM, Kalikin LM, Johnson LA, Alders M, Redeker B, Law DJ, Bliek J, Steenman M, Benedict M, Wiegant J, Lengauer C, Taillon-Miller P, Schlessinger D, Edwards MC, Elledge SJ, Ivens A, Westerveld A, Little P, Mannens M, Feinberg AP. Hoovers JM, et al. Among authors: redeker b. Proc Natl Acad Sci U S A. 1995 Dec 19;92(26):12456-60. doi: 10.1073/pnas.92.26.12456. Proc Natl Acad Sci U S A. 1995. PMID: 8618920 Free PMC article.
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capellá G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M, Nystrom M, Peltomaki P, Pineda M, Qi M, Ramesar R, Rasmussen LJ, Royer-Pokora B, Scott RJ, Sijmons R, Tavtigian SV, Tops CM, Weber T, Wijnen J, Woods MO, Macrae F, Genuardi M. Thompson BA, et al. Nat Genet. 2014 Feb;46(2):107-115. doi: 10.1038/ng.2854. Epub 2013 Dec 22. Nat Genet. 2014. PMID: 24362816 Free PMC article.
Positional cloning of genes involved in the Beckwith-Wiedemann syndrome, hemihypertrophy, and associated childhood tumors.
Mannens M, Alders M, Redeker B, Bliek J, Steenman M, Wiesmeyer C, de Meulemeester M, Ryan A, Kalikin L, Voûte T, De Kraker J, Hoovers J, Slater R, Feinberg A, Little P, Westerveld A. Mannens M, et al. Among authors: redeker b. Med Pediatr Oncol. 1996 Nov;27(5):490-4. doi: 10.1002/(SICI)1096-911X(199611)27:5<490::AID-MPO17>3.0.CO;2-E. Med Pediatr Oncol. 1996. PMID: 8827079 Review.
23 results