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1)
Genotype-phenotype correlations in MYCN-related Feingold syndrome.
Marcelis CL, Hol FA, Graham GE, Rieu PN, Kellermayer R, Meijer RP,
Lugtenberg D, Scheffer H, van Bokhoven H, Brunner HG, de Brouwer AP.
Hum
Mutat. 2008 Sep;29(9):1125-32.
2)
A novel translation re-initiation mechanism for the p63 gene
revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like
syndromes.
Rinne T, Clements SE, Lamme E, Duijf PH, Bolat E, Meijer R, Scheffer
H, Rosser E, Tan TY, McGrath JA, Schalkwijk J, Brunner HG, Zhou H,
van Bokhoven H.
Hum Mol Genet.
2008 Jul 1;17(13):1968-77. Epub 2008 Mar 25.
3)
Submicroscopic duplications of the hydroxysteroid dehydrogenase
HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with
mental retardation.
Froyen G, Corbett M, Vandewalle J, Jarvela I, Lawrence O, Meldrum C,
Bauters M, Govaerts K, Vandeleur L, Van Esch H, Chelly J, Sanlaville
D, van Bokhoven H, Ropers HH, Laumonnier F, Ranieri E, Schwartz CE,
Abidi F, Tarpey PS, Futreal PA, Whibley A, Raymond FL, Stratton MR,
Fryns JP, Scott R, Peippo M, Sipponen M, Partington M, Mowat D,
Field M, Hackett A, Marynen P, Turner G, Gécz J.
Am J
Hum Genet. 2008 Feb;82(2):432-43. Epub 2008 Jan 24.
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