Zobrazeno 1 - 10
of 56
pro vyhledávání: '"Linda Jo Bone"'
Autor:
Michael D. Kessler, Laura Yerges-Armstrong, Margaret A. Taub, Amol C. Shetty, Kristin Maloney, Linda Jo Bone Jeng, Ingo Ruczinski, Albert M. Levin, L. Keoki Williams, Terri H. Beaty, Rasika A. Mathias, Kathleen C. Barnes, Consortium on Asthma among African-ancestry Populations in the Americas (CAAPA), Timothy D. O’Connor
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-8 (2016)
Personalized medicine requires accurate and ethnicity-optimized reference genome panels. Here, the Consortium on Asthma among African-ancestry Populations in the Americas (CAAPA) evaluates typical variant filters and existing genome databases against
Externí odkaz:
https://doaj.org/article/f9576b534da64e5a9b33c002e1f226f9
Autor:
Linda Jo Bone, Suzanne M. Deschênes, Rita J. Balice-Gordon, Kenneth H. Fischbeck, Steven S. Scherer
Publikováno v:
Neurobiology of Disease, Vol 4, Iss 3, Pp 221-230 (1997)
Mutations in the gap junction geneconnexin32(Cx32) cause the X-linked form of Charcot–Marie–Tooth disease, an inherited demyelinating neuropathy. More than 130 different mutations have been described, affecting all portions of the Cx32 protein. I
Externí odkaz:
https://doaj.org/article/748dbd05acde45bc8a7988488a1bc1e8
Publikováno v:
BMC Medical Genomics. Jul2015, Vol. 8 Issue 1, p1-9. 9p.
Reporting Incidental Findings in Genomic Scale Clinical Sequencing—A Clinical Laboratory Perspective
Autor:
Christine E. Miller, Rong Mao, Jane Gibson, Pinar Bayrak-Toydemir, Linda Jo Bone Jeng, Paul G. Rothberg, Ira M. Lubin, Sherri J. Bale, Loren Joseph, Lainie Friedman Ross, Madhuri Hegde, Jordan Laser, Patrik Vitazka, Alice K. Tanner
Publikováno v:
The Journal of Molecular Diagnostics. 17:107-117
Advances in sequencing technologies have facilitated concurrent testing for many disorders, and the results generated may provide information about a patient's health that is unrelated to the clinical indication, commonly referred to as incidental fi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::342126892c0754b02ff565068484574e
https://doi.org/10.1016/j.jmoldx.2014.10.004
https://doi.org/10.1016/j.jmoldx.2014.10.004
Autor:
Cutting, Elizabeth, Banchero, Meghan, Beitelshees, Amber L., Cimino, James J., Fiol, Guilherme Del, Gurses, Ayse P., Hoffman, Mark A., Jeng, Linda Jo Bone, Kawamoto, Kensaku, Kelemen, Mark, Pincus, Harold Alan, Shuldiner, Alan R., Williams, Marc S., Pollin, Toni I., Overby, Casey Lynnette
Publikováno v:
In Journal of Biomedical Informatics October 2016 63:1-10
Autor:
Maimoona A. Zariwala, Richard J. Wenstrup, Girish V. Putcha, Kasinathan Muralidharan, Ishrag Khababa, Soma Das, Bai-Lin Wu, Stacey Withrow, Nancy Carson, Fred Schaefer, Jessica K. Booker, Karen E. Weck, Rong Mao, Michelle A. Springer, Iris M. Otani, Melissa A Dempsey, Margaret A. Kenna, Marcy L. Hoffmann, John H. Greinwald, Bassem A. Bejjani, Linda Jo Bone Jeng, John C. Carey, Stacey L. Bleoo, Elaine B. Spector, Iris Schrijver, Margaret Lilley, Heidi L. Rehm, William K. Seltzer, Julie M. Gastier-Foster
Publikováno v:
Genetics in Medicine. 9:413-426
Purpose: The aim of the study was to determine the actual GJB2 and GJB6 mutation frequencies in North America after several years of generalized testing for autosomal recessive nonsyndromic sensorineural hearing loss to help guide diagnostic testing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77164420c9884806ce45c835c3b2b0d3
https://doi.org/10.1097/gim.0b013e3180a03276
https://doi.org/10.1097/gim.0b013e3180a03276
Publikováno v:
Slavotinek, Anne; Qi, Z; Jeng, LJB; & Yu, J. (2015). Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/69m3j0fp
BMC Medical Genomics
BMC Medical Genomics
Background Chromosome 6pter-p24 deletion syndrome (OMIM #612582) is a recognized chromosomal disorder. Most of the individuals with this syndrome carry a terminal deletion of the short arm of chromosome 6 (6p) with a breakpoint within the 6p25.3p23 r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eca16691ac5c7098f2b2880705539341
http://www.escholarship.org/uc/item/69m3j0fp
http://www.escholarship.org/uc/item/69m3j0fp
Autor:
Albee Messing, Linda Jo Bone Jeng, Steven S. Scherer, Yi-Tian Xu, Klaus Willecke, Kenneth H. Fischbeck
Publikováno v:
The Journal of Neuroscience. 25:1550-1559
Mutations inGap Junctionβ1(GJB1), the gene encoding the gap junction protein connexin32 (Cx32), cause the X-linked form of Charcot-Marie-Tooth disease (CMT1X), an inherited demyelinating neuropathy. We investigated the possibility that the expressio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a07c80aa7b4af87da08ba2f9c72c7f2
https://doi.org/10.1523/jneurosci.3082-04.2005
https://doi.org/10.1523/jneurosci.3082-04.2005
Publikováno v:
American Journal of Medical Genetics Part A. :217-221
In this report, we describe a 7-year-old child with mild mental retardation, developmental delay, and learning disabilities. His karyotype contained a rearrangement of chromosome 13, which appeared to include a duplication of 13q31-qter and a deletio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca65d14b3577c78578b41758e3c33619
https://doi.org/10.1002/ajmg.a.30866
https://doi.org/10.1002/ajmg.a.30866
Publikováno v:
Journal of American Association for Pediatric Ophthalmology and Strabismus. 17:211-213
We report an 8-month-old boy with Emanuel syndrome who also had the clinical features of Goldenhar syndrome. At birth, he was observed to have bilateral microtia with multiple auricular pits, retrognathia, and a unilateral lipodermoid. Further testin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::234ce260467973a1277266bfc23af517
https://doi.org/10.1016/j.jaapos.2012.11.011
https://doi.org/10.1016/j.jaapos.2012.11.011