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

By Yan Jiong  

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

Oxford University Press

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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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Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions

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Molecular Syndromology, Vol. 5, Iss. 2, 2014-01 ,pp. : 57-64

Karger

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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

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Mice trisomic for a bacterial artificial chromosome with the single-minded 2 gene ( Sim2 ) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndrome

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