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52 results

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Page 1
Gene symbol: NOTCH3.
Mazzei R, Conforti FL, Ungaro C, Liguori M, Sprovieri T, Patitucci A, Magariello A, Gabriele AL, Muglia M, Quattrone A. Mazzei R, et al. Among authors: sprovieri t. Hum Genet. 2007 Apr;121(2):296. Hum Genet. 2007. PMID: 17598244 No abstract available.
Gene symbol: MECP2. Disease: Rett syndrome.
Conforti FL, Mazzei R, Patitucci A, Magariello A, Sprovieri T, Ungaro C, Gabriele AL, Muglia M, Del Giudice E, Quattrone A. Conforti FL, et al. Among authors: sprovieri t. Hum Genet. 2006 Jul;119(6):675. Hum Genet. 2006. PMID: 17128467 No abstract available.
Gene symbol: MECP2. Disease: Rett syndrome.
Conforti FL, Mazzei R, Sprovieri T, Ungaro C, Patitucci A, Magariello A, Gabriele AL, Bravaccio C, Muglia M, Quattrone A. Conforti FL, et al. Among authors: sprovieri t. Hum Genet. 2006 Jul;119(6):676. Hum Genet. 2006. PMID: 17128468 No abstract available.
Gene symbol: NOTCH3.
Mazzei R, Conforti FL, Ungaro C, Liguori M, Sprovieri T, Patitucci A, Magariello A, Gabriele AL, Muglia M, Quattrone A. Mazzei R, et al. Among authors: sprovieri t. Hum Genet. 2007 Apr;121(2):295. Hum Genet. 2007. PMID: 17598216 No abstract available.
Gene symbol: NOTCH3.
Mazzei R, Conforti FL, Ungaro C, Liguori M, Magariello A, Gabriele AL, Patitucci A, Sprovieri T, Muglia M, Quattrone A. Mazzei R, et al. Among authors: sprovieri t. Hum Genet. 2007 Apr;121(2):296. Hum Genet. 2007. PMID: 17598243 No abstract available.
First evidence of a pathogenic insertion in the NOTCH3 gene causing CADASIL.
Mazzei R, Guidetti D, Ungaro C, Conforti FL, Muglia M, Cenacchi G, Lanza PL, Patitucci A, Sprovieri T, Riguzzi P, Magariello A, Gabriele AL, Citrigno L, Preda P, Quattrone A. Mazzei R, et al. Among authors: sprovieri t. J Neurol Neurosurg Psychiatry. 2008 Jan;79(1):108-10. doi: 10.1136/jnnp.2007.128009. Epub 2007 Sep 14. J Neurol Neurosurg Psychiatry. 2008. PMID: 17872982 No abstract available.
CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene.
Ungaro C, Mazzei R, Conforti FL, Sprovieri T, Servillo P, Liguori M, Citrigno L, Gabriele AL, Magariello A, Patitucci A, Muglia M, Quattrone A. Ungaro C, et al. Among authors: sprovieri t. J Neurosci Res. 2009 Apr;87(5):1162-7. doi: 10.1002/jnr.21935. J Neurosci Res. 2009. PMID: 19006080
52 results