Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome

By Bi Weimin   Saifi G.   Shaw Christine   Walz Katherina   Fonseca Patricia   Wilson Meredith   Potocki Lorraine   Lupski James  

Human Genetics, Vol. 115, Iss. 6, 2004-11 ,pp. : 515-524

Springer Publishing Company

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Behavioral characterization of mouse models for Smith–Magenis syndrome and dup(17)(p11.2p11.2)

By Walz Katherina   Spencer Corinne   Kaasik Krista   Lee Cheng C.   Lupski James R.   Paylor Richard  

Human Molecular Genetics, Vol. 13, Iss. 4, 2004-02 ,pp. : 367-378

Oxford University Press

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Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith–Magenis syndrome

By Bi Weimin   Ohyama Tomoko   Nakamura Hisashi   Yan Jiong   Visvanathan Jaya   Justice Monica J.   Lupski James R.  

Human Molecular Genetics, Vol. 14, Iss. 8, 2005-04 ,pp. : 983-995

Oxford University Press

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Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith–Magenis syndrome

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Human Molecular Genetics, Vol. 13, Iss. 21, 2004-11 ,pp. : 2613-2624

Oxford University Press

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Identification of Three Different Truncating Mutations in Cytochrome P4501B1 ( CYP1B1 ) as the Principal Cause of Primary Congenital Glaucoma (Buphthalmos) in Families Linked to the GLC3A Locus on Chromosome 2p21

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Human Molecular Genetics, Vol. 6, Iss. 4, 1997-01 ,pp. : 641-647

Oxford University Press

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