Výsledky vyhledávání - "Kristen C. Hoffbuhr"

Rapid Genotyping of Common MeCP2 Mutations with an Electronic DNA Microchip Using Serial Differential Hybridization

Autor: Joseph M. Devaney, Linda Moses, Eric P. Hoffman, Kristen C. Hoffbuhr, William A. Thistlethwaite

Publikováno v: The Journal of Molecular Diagnostics. 5:121-126

Rett syndrome is a neurodevelopmental disorder that affects females almost exclusively, and in which eight common point mutations on the X-linked MeCP2 gene are knows to cause over 70% of mutation-positive cases. We explored the use of a novel platfo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da59bfc47e5c881a417f5d6909449b8d
https://doi.org/10.1016/s1525-1578(10)60461-8

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Lack of evidence for maternal effect in familial Alzheimer's disease

Autor: Kristen C. Hoffbuhr, Haydeh Payami

Publikováno v: Genetic Epidemiology. 10:461-464

Mitochondrial defects may be involved in Alzheimer's disease (AD) by lowering the oxidative phosphorylation efficiency at an earlier age. To investigate the possible contribution of an inherited mitochondrial DNA defect to familial AD (FAD), we exami

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::36ae28c8b7d136428ac661ed33956165
https://doi.org/10.1002/gepi.1370100622

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

Autor: Gabriele V. Ronnett, Sakku Bai Naidu, Eric P. Hoffman, Kristen C. Hoffbuhr, Xiaohe Cai, Donald Leopold, Linda Moses

Publikováno v: Annals of neurology. 54(2)

Rett's Syndrome (RTT) is a neurodevelopmental disorder resulting from mutation in the mecp2 gene that encodes methyl CpG binding protein 2, a transcriptional repressor. Because this disease primarily affects neurons, tissue is not available during ac

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e53cdd9d915953eb7c5dacec0d808d1
https://pubmed.ncbi.nlm.nih.gov/12891673

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

Autor: Linda Moses, Kristen C. Hoffbuhr, Sakku Bai Naidu, M. A. Jerdonek, Eric P. Hoffman

Publikováno v: Mental retardation and developmental disabilities research reviews. 8(2)

Rett syndrome is a neurodevelopmental disorder of early postnatal brain growth in girls. Patients show a normal neonatal period with subsequent developmental regression and a loss of acquired skills (communication and motor skills), deceleration of h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9748f0147a9d12782c45ffb44f67e442
https://pubmed.ncbi.nlm.nih.gov/12112735

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

Autor: Sakku Bai Naidu, James M. Giron, J Schuette, C Scacheri, Michel Philippart, Joseph M. Devaney, N Sirianni, Vinodh Narayanan, Bonnie LaFleur, Kristen C. Hoffbuhr, J Innis, Eric P. Hoffman, R Umansky, Michael A. Marino, David Kronn

Publikováno v: Scopus-Elsevier

Background: Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the X-linked methyl CpG binding protein 2 ( MeCP2 ) gene. Methods: One hundred sixteen patients with classical and atypical RTT were studied for mutations of the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd42c6736ac53fbadbca6550ee7ad8c4
https://pubmed.ncbi.nlm.nih.gov/11402105

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

Autor: Kristen C. Hoffbuhr, Richard Umansky, Eric P. Hoffman, Kathleen M. Painter, Joseph M. Devaney, John S. Watson

Publikováno v: Journal of developmental and behavioral pediatrics : JDBP. 22(2)

Partial preservation of object-oriented hand use (OOHU) was studied behaviorally in a 6-1/2-year-old girl with the preserved speech variant (PSV) of Rett syndrome (RS), associated with a T 158 missense MeCP2 mutation and favorably skewed X-inactivati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3ff7c5bbeebe268691b6cb6d9864170
https://pubmed.ncbi.nlm.nih.gov/11332781

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

Autor: Nancy G. Kennaway, Edgar Davidson, Kristen C. Hoffbuhr, Michael P. King, Mercy M. Davidson, Beth A. Filiano

Publikováno v: The Journal of biological chemistry. 275(18)

A 15-base pair, in-frame, deletion (9480del15) in the mitochondrial DNA (mtDNA)-encoded cytochrome c oxidase subunit III (COX III) gene was identified previously in a patient with recurrent episodes of myoglobinuria and an isolated COX deficiency. Tr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a595a2f1de7683d2f339c2b3954cfa2e
https://pubmed.ncbi.nlm.nih.gov/10788526

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Mutations in COX15 Produce a Defect in the Mitochondrial Heme Biosynthetic Pathway, Causing Early-Onset Fatal Hypertrophic Cardiomyopathy

Autor: Kristen C. Hoffbuhr, D. Moira Glerum, Scot C. Leary, Christopher G. Carlson, Andre Mattman, Nancy G. Kennaway, Hana Antonicka, Eric A. Shoubridge

Publikováno v: The American Journal of Human Genetics. (1):101-114

Deficiencies in the activity of cytochrome c oxidase (COX), the terminal enzyme in the respiratory chain, are a frequent cause of autosomal recessive mitochondrial disease in infants. These patients are clinically and genetically heterogeneous, and a

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