Hoffman EP - Search Results

1

Olfactory biopsies demonstrate a defect in neuronal development in Rett's syndrome.

Ronnett GV, Leopold D, Cai X, Hoffbuhr KC, Moses L, Hoffman EP, Naidu S. Ronnett GV, et al. Among authors: hoffman ep. Ann Neurol. 2003 Aug;54(2):206-18. doi: 10.1002/ana.10633. Ann Neurol. 2003. PMID: 12891673

2

MeCP2 mutations in children with and without the phenotype of Rett syndrome.

Hoffbuhr K, Devaney JM, LaFleur B, Sirianni N, Scacheri C, Giron J, Schuette J, Innis J, Marino M, Philippart M, Narayanan V, Umansky R, Kronn D, Hoffman EP, Naidu S. Hoffbuhr K, et al. Among authors: hoffman ep. Neurology. 2001 Jun 12;56(11):1486-95. doi: 10.1212/wnl.56.11.1486. Neurology. 2001. PMID: 11402105

3

Rapid genotyping of common MeCP2 mutations with an electronic DNA microchip using serial differential hybridization.

Thistlethwaite WA, Moses LM, Hoffbuhr KC, Devaney JM, Hoffman EP. Thistlethwaite WA, et al. Among authors: hoffman ep. J Mol Diagn. 2003 May;5(2):121-6. doi: 10.1016/S1525-1578(10)60461-8. J Mol Diagn. 2003. PMID: 12707377 Free PMC article.

4

Gene expression profiling in postmortem Rett Syndrome brain: differential gene expression and patient classification.

Colantuoni C, Jeon OH, Hyder K, Chenchik A, Khimani AH, Narayanan V, Hoffman EP, Kaufmann WE, Naidu S, Pevsner J. Colantuoni C, et al. Among authors: hoffman ep. Neurobiol Dis. 2001 Oct;8(5):847-65. doi: 10.1006/nbdi.2001.0428. Neurobiol Dis. 2001. PMID: 11592853

5

Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype.

Hoffbuhr KC, Moses LM, Jerdonek MA, Naidu S, Hoffman EP. Hoffbuhr KC, et al. Among authors: hoffman ep. Ment Retard Dev Disabil Res Rev. 2002;8(2):99-105. doi: 10.1002/mrdd.10026. Ment Retard Dev Disabil Res Rev. 2002. PMID: 12112735 Review.

6

Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation.

Gorospe JR, Singhal BS, Kainu T, Wu F, Stephan D, Trent J, Hoffman EP, Naidu S. Gorospe JR, et al. Among authors: hoffman ep. Neurology. 2004 Mar 23;62(6):878-82. doi: 10.1212/01.wnl.0000115106.88813.5b. Neurology. 2004. PMID: 15037685

7

Gene profiling in spinal cord injury shows role of cell cycle in neuronal death.

Di Giovanni S, Knoblach SM, Brandoli C, Aden SA, Hoffman EP, Faden AI. Di Giovanni S, et al. Among authors: hoffman ep. Ann Neurol. 2003 Apr;53(4):454-68. doi: 10.1002/ana.10472. Ann Neurol. 2003. PMID: 12666113

8

Molecular findings in symptomatic and pre-symptomatic Alexander disease patients.

Gorospe JR, Naidu S, Johnson AB, Puri V, Raymond GV, Jenkins SD, Pedersen RC, Lewis D, Knowles P, Fernandez R, De Vivo D, van der Knaap MS, Messing A, Brenner M, Hoffman EP. Gorospe JR, et al. Among authors: hoffman ep. Neurology. 2002 May 28;58(10):1494-500. doi: 10.1212/wnl.58.10.1494. Neurology. 2002. PMID: 12034785

9

Rett syndrome: confirmation of X-linked dominant inheritance, and localization of the gene to Xq28.

Sirianni N, Naidu S, Pereira J, Pillotto RF, Hoffman EP. Sirianni N, et al. Among authors: hoffman ep. Am J Hum Genet. 1998 Nov;63(5):1552-8. doi: 10.1086/302105. Am J Hum Genet. 1998. PMID: 9792883 Free PMC article. No abstract available.

10

PCB congener specific oxidative stress response by microarray analysis using human liver cell line.

De S, Ghosh S, Chatterjee R, Chen YQ, Moses L, Kesari A, Hoffman EP, Dutta SK. De S, et al. Among authors: hoffman ep. Environ Int. 2010 Nov;36(8):907-17. doi: 10.1016/j.envint.2010.05.011. Epub 2010 Jul 17. Environ Int. 2010. PMID: 20638727 Free PMC article.

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