Zobrazeno 1 - 10
of 73
pro vyhledávání: '"Linda Hasadsri"'
Autor:
Jesse R. Walsh, Guangchao Sun, Jagadheshwar Balan, Jayson Hardcastle, Jason Vollenweider, Calvin Jerde, Kandelaria Rumilla, Christy Koellner, Alaa Koleilat, Linda Hasadsri, Benjamin Kipp, Garrett Jenkinson, Eric Klee
Publikováno v:
BMC Bioinformatics, Vol 25, Iss 1, Pp 1-15 (2024)
Abstract Background DNA methylation is one of the most stable and well-characterized epigenetic alterations in humans. Accordingly, it has already found clinical utility as a molecular biomarker in a variety of disease contexts. Existing methods for
Externí odkaz:
https://doaj.org/article/8c89ef322c5e46f29c5cfcbc2677a92d
Autor:
Sara L. Cook, Christian Stout, Lindsey Kirkeby, Noemi Vidal-Folch, Devin Oglesbee, Linda Hasadsri, Duygu Selcen, Margherita Milone, Daniel Anderson, Nathan P. Staff
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
IntroductionSpinal muscular atrophy (SMA) is caused by homozygous loss of the SMN1 gene with SMN2 gene copy number correlating with disease severity. Rarely SMA is caused by a deletion on one allele and a pathogenic variant on the other. The pathogen
Externí odkaz:
https://doaj.org/article/3774c76d9a0d4d369a9106ee899bec86
Autor:
Qiliang Ding, Christopher D. Hofich, Tifani B. Kellogg, Rhonda K. Kuennen, Kaitlin N. Paxton, Sarah M. Thieke, Kandelaria M. Rumilla, Linda Hasadsri
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 15, p 8533 (2024)
Cystic fibrosis is caused by biallelic pathogenic variants in the CFTR gene, which contains a polymorphic (TG)mTn sequence (the “poly-T/TG tract”) in intron 9. While T9 and T7 alleles are benign, T5 alleles with longer TG repeats, e.g., (TG)12T5
Externí odkaz:
https://doaj.org/article/1f9ef1f7d49e4fb683a1a4f93f50c31f
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101646- (2024)
Externí odkaz:
https://doaj.org/article/83b2cb71bb50435682a240e94b145b1e
Autor:
Anna Essendrup, Sarah Brunker, Marissa Ellingson, Jessica Bortnova, Kyle Salsbery, Linda Hasadsri, Zhiyv Niu
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101811- (2024)
Externí odkaz:
https://doaj.org/article/7463f03148e5463fb4d0b71a1d386c08
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100491- (2023)
Externí odkaz:
https://doaj.org/article/a639a7cff8334357a2f7207daed05139
Autor:
Nisha Kanwar, Jennifer Winters, Amber McDonald, Sean Harrington, Rhonda Kuennen, Sarah Thieke, Linda Hasadsri
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100538- (2023)
Externí odkaz:
https://doaj.org/article/6344f757a0e942cc873d7dddc84c3736
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100543- (2023)
Externí odkaz:
https://doaj.org/article/a59ded965d724c9e928b03e8ec5aff21
Autor:
Jeanne Theis, Jayson Hardcastle, Jason Vollenweider, Calvin Jerde, Kandelaria Rumilla, Christine Koellner, Eric Klee, Jesse Walsh, Garrett Jenkinson, Jagadheshwar Balan, Linda Hasadsri
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100617- (2023)
Externí odkaz:
https://doaj.org/article/2fc6c308f14d4caab3c5f577e5c947fd
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100760- (2023)
Externí odkaz:
https://doaj.org/article/30a2d45bdf4440b89e4953348498f2c7