Hoffbuhr KC - Search Results

1

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

Hoffbuhr KC, Moses LM, Jerdonek MA, Naidu S, Hoffman EP. Hoffbuhr KC, et al. 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.

2

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: hoffbuhr kc. 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.

3

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. Neurology. 2001 Jun 12;56(11):1486-95. doi: 10.1212/wnl.56.11.1486. Neurology. 2001. PMID: 11402105

4

Social facilitation of object-oriented hand use in a Rett syndrome variant girl: implications for partial preservation of an hypothesized specialized cerebral network.

Umansky R, Watson JS, Hoffbuhr K, Painter KM, Devaney J, Hoffman E. Umansky R, et al. J Dev Behav Pediatr. 2001 Apr;22(2):119-22. doi: 10.1097/00004703-200104000-00006. J Dev Behav Pediatr. 2001. PMID: 11332781

5

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: hoffbuhr kc. Ann Neurol. 2003 Aug;54(2):206-18. doi: 10.1002/ana.10633. Ann Neurol. 2003. PMID: 12891673

6

Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy.

Antonicka H, Mattman A, Carlson CG, Glerum DM, Hoffbuhr KC, Leary SC, Kennaway NG, Shoubridge EA. Antonicka H, et al. Among authors: hoffbuhr kc. Am J Hum Genet. 2003 Jan;72(1):101-14. doi: 10.1086/345489. Epub 2002 Dec 9. Am J Hum Genet. 2003. PMID: 12474143 Free PMC article.

7

A pathogenic 15-base pair deletion in mitochondrial DNA-encoded cytochrome c oxidase subunit III results in the absence of functional cytochrome c oxidase.

Hoffbuhr KC, Davidson E, Filiano BA, Davidson M, Kennaway NG, King MP. Hoffbuhr KC, et al. J Biol Chem. 2000 May 5;275(18):13994-4003. doi: 10.1074/jbc.275.18.13994. J Biol Chem. 2000. PMID: 10788526 Free article.

8

A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria.

Keightley JA, Hoffbuhr KC, Burton MD, Salas VM, Johnston WS, Penn AM, Buist NR, Kennaway NG. Keightley JA, et al. Among authors: hoffbuhr kc. Nat Genet. 1996 Apr;12(4):410-6. doi: 10.1038/ng0496-410. Nat Genet. 1996. PMID: 8630495

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