Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Heather L Paterson"'
Autor:
Leslie Hotchkiss, Hayes, Morgane, Perdomini, Asli, Aykanat, Casie A, Genetti, Heather L, Paterson, Belinda S, Cowling, Christian, Freitag, Alan H, Beggs
Publikováno v:
Neurology. Genetics. 8(6)
Centronuclear myopathy (CNM) due to mutations in the dynamin 2 gene,Pediatric and adult patients with suspicion for a CNM diagnosis and confirmed heterozygous pathogenic variants inForty-two patients with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::70357583783c8380a5d1d2c140673e42
https://pubmed.ncbi.nlm.nih.gov/36324371
https://pubmed.ncbi.nlm.nih.gov/36324371
Autor:
Leslie Hotchkiss Hayes, Morgane Perdomini, Asli Aykanat, Casie A. Genetti, Heather L. Paterson, Belinda S. Cowling, Christian Freitag, Alan H. Beggs
Publikováno v:
Neurology Genetics. 8:e200027
Background and ObjectivesCentronuclear myopathy (CNM) due to mutations in the dynamin 2 gene,DNM2, is a rare neuromuscular disease about which little is known. The objective of this study was to describe the range of clinical presentations and subseq
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8d1f2cfb5adc10661ec4e6dd99d35f7e
https://doi.org/10.1212/nxg.0000000000200027
https://doi.org/10.1212/nxg.0000000000200027
Autor:
Jianqiao Li, Margaret A Hojlo, Sampath Chennuri, Nitin Gujral, Heather L Paterson, Kent A Shefchek, Casie A Genetti, Emily L Cohn, Kara C Sewalk, Emily A Garvey, Elizabeth D Buttermore, Nickesha C Anderson, Alan H Beggs, Pankaj B Agrawal, John S Brownstein, Melissa A Haendel, Ingrid A Holm, Joseph Gonzalez-Heydrich, Catherine A Brownstein
BACKGROUND 16p13.11 microduplication syndrome has a variable presentation and is characterized primarily by neurodevelopmental and physical phenotypes resulting from copy number variation at chromosome 16p13.11. Given its variability, there may be fe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::116adeaf50cffdad5006afba038fe842
https://doi.org/10.2196/preprints.21023
https://doi.org/10.2196/preprints.21023
Publikováno v:
The Yale Journal of Biology and Medicine
Tissue-specific enhancers are critical for gene regulation. In this study, we help elucidate the contribution of muscle-associated differential DNA methylation to the enhancer activity of highly muscle-specific genes. By bioinformatic analysis of 44
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7bc57c7898712ea589d92261cc8fb8b5
https://pubmed.ncbi.nlm.nih.gov/28018137
https://pubmed.ncbi.nlm.nih.gov/28018137
Autor:
Hayes, Leslie Hotchkiss, Perdomini, Morgane, Aykanat, Asli, Genetti, Casie A., Paterson, Heather L., Cowling, Belinda S., Freitag, Christian, Beggs, Alan H.
Publikováno v:
Neurology: Genetics; Dec2022, Vol. 8 Issue 6, p1-13, 13p
Autor:
Li, Jianqiao1,2 (AUTHOR), Hojlo, Margaret A3,4 (AUTHOR), Chennuri, Sampath5 (AUTHOR), Gujral, Nitin5 (AUTHOR), Paterson, Heather L1,2 (AUTHOR), Shefchek, Kent A6 (AUTHOR), Genetti, Casie A1,2 (AUTHOR), Cohn, Emily L5 (AUTHOR), Sewalk, Kara C7 (AUTHOR), Garvey, Emily A3,4 (AUTHOR), Buttermore, Elizabeth D8 (AUTHOR), Anderson, Nickesha C9 (AUTHOR), Beggs, Alan H1,2,10 (AUTHOR), Agrawal, Pankaj B1,2,10,11 (AUTHOR), Brownstein, John S5,10 (AUTHOR), Haendel, Melissa A12 (AUTHOR), Holm, Ingrid A1,2,10 (AUTHOR), Gonzalez-Heydrich, Joseph2,3,4,13 (AUTHOR), Brownstein, Catherine A1,2,4,10 (AUTHOR)
Publikováno v:
Journal of Medical Internet Research. Mar2021, Vol. 23 Issue 3, pN.PAG-N.PAG. 1p. 4 Charts.