In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: alanine tract expansion modulates DNA binding and transactivation

By Brown Lucia   Paraso Melinda   Brown Stephen  

Human Molecular Genetics, Vol. 14, Iss. 3, 2005-02 ,pp. : 411-420

Oxford University Press

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Zic2 -associated holoprosencephaly is caused by a transient defect in the organizer region during gastrulation

By Warr Nicholas   Powles-Glover Nicola   Chappell Anna   Robson Joan   Norris Dominic   Arkell Ruth M.  

Human Molecular Genetics, Vol. 17, Iss. 19, 2008-10 ,pp. : 2986-2996

Oxford University Press

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Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction

By Trochet Delphine   Hong Seok Jong   Lim Jin Kyu   Brunet Jean-François   Munnich Arnold   Kim Kwang-Soo   Lyonnet Stanislas   Goridis Christo   Amiel Jeanne  

Human Molecular Genetics, Vol. 14, Iss. 23, 2005-12 ,pp. : 3697-3708

Oxford University Press

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Variable Somatic TIE2 Mutations in Half of Sporadic Venous Malformations

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Molecular Syndromology, Vol. 4, Iss. 4, 2013-03 ,pp. : 179-183

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High levels of somatic DNA diversity at the myotonic dystrophy type 1 locus are driven by ultra-frequent expansion and contraction mutations

By Higham Catherine F.   Morales Fernando   Cobbold Christina A.   Haydon Daniel T.   Monckton Darren G.  

Human Molecular Genetics, Vol. 21, Iss. 11, 2012-06 ,pp. : 2450-2463

Oxford University Press

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