Mutations in DNA methyltransferase DNMT3B in ICF syndrome affect its regulation by DNMT3L

By Xie Zheng-Hua   Huang Yan-Nv   Chen Zhao-Xia   Riggs Arthur D.   Ding Jian-Ping   Gowher Humaira   Jeltsch Albert   Sasaki Hiroyuki   Hata Kenichiro   Xu Guo-Liang  

Human Molecular Genetics, Vol. 15, Iss. 9, 2006-05 ,pp. : 1375-1385

Oxford University Press

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DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function

By Jin Bilian   Tao Qian   Peng Jinrong   Soo Hui Meng   Wu Wei   Ying Jianming   Fields C. Robert   Delmas Amber L.   Liu Xuefeng   Qiu Jingxin   Robertson Keith D.  

Human Molecular Genetics, Vol. 17, Iss. 5, 2008-03 ,pp. : 690-709

Oxford University Press

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Missense mutations in β-1,3- N -acetylglucosaminyltransferase 1 ( B3GNT1 ) cause Walker-Warburg syndrome

By Buysse Karen   Riemersma Moniek   Powell Gareth   van Reeuwijk Jeroen   Chitayat David   Roscioli Tony   Kamsteeg Erik-Jan   van den Elzen Christa   van Beusekom Ellen   Blaser Susan   Babul-Hirji Riyana   Halliday William   Wright Gavin J.   Stemple Derek L.   Lin Yung-Yao   Lefeber Dirk J.   van Bokhoven Hans  

Human Molecular Genetics, Vol. 22, Iss. 9, 2013-05 ,pp. : 1746-1754

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Point Mutations in Human GLI3 Cause Greig Syndrome

By Wild Anja   Kalff-Suske Martha   Vortkamp Andrea   Bornholdt Dorothea   Kônig Rainer   Grzeschik Karl-Heinz  

Human Molecular Genetics, Vol. 6, Iss. 11, 1997-10 ,pp. : 1979-1984

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Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome

By Kalff-Suske Martha   Wild Anja   Topp Juliane   Wessling Martina   Jacobsen Eva-Maria   Bornholdt Dorothea   Engel Hartmut   Heuer Heike   Aalfs Cora M.  

Human Molecular Genetics, Vol. 8, Iss. 9, 1999-09 ,pp. : 1769-1777

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