Convergent extension movements and ciliary function are mediated by ofd1 , a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene

By Ferrante Maria I.   Romio Leila   Castro Silvia   Collins John E.   Goulding David A.   Stemple Derek L.   Woolf Adrian S.   Wilson Stephen W.  

Human Molecular Genetics, Vol. 18, Iss. 2, 2009-01 ,pp. : 289-303

Oxford University Press

Access to resources Recommend Favorite

Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome

By Buller C.   Xu X.   Marquis V.   Schwanke R.   Xu P-X.  

Human Molecular Genetics, Vol. 10, Iss. 24, 2001-11 ,pp. : 2775-2781

Oxford University Press

Access to resources Recommend Favorite

Deletion of ETS-1 , a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice

By Ye Maoqing   Coldren Chris   Liang Xingqun   Mattina Teresa   Goldmuntz Elizabeth   Benson D. Woodrow   Ivy Dunbar   Perryman M.B.   Garrett-Sinha Lee Ann   Grossfeld Paul  

Human Molecular Genetics, Vol. 19, Iss. 4, 2010-02 ,pp. : 648-656

Oxford University Press

Access to resources Recommend Favorite

SALL1, the gene mutated in Townes–Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin

By Netzer Christian   Rieger Leonie   Brero Alessandro   Zhang Chang-Dong   Hinzke Markus   Kohlhase Jürgen   Bohlander StefanK.  

Human Molecular Genetics, Vol. 10, Iss. 26, 2001-12 ,pp. : 3017-3024

Oxford University Press

Access to resources Recommend Favorite

MECP2 Duplication Syndrome

By  

Molecular Syndromology, Vol. 2, Iss. 3-5, 2011-07 ,pp. : 128-136

Karger

Access to resources Recommend Favorite