Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Isabella V, Hendrickson"'
Autor:
Taina T. Nieminen, Sandya Liyanarachchi, Daniel F. Comiskey Jr., Yanqiang Wang, Wei Li, Isabella V. Hendrickson, Pamela Brock, Albert de laChapelle, Huiling He
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 5, Pp n/a-n/a (2021)
Abstract Background We studied a large family with 22 individuals affected with autosomal dominant hereditary spherocytosis (HS). Methods Genome‐wide linkage, whole‐genome sequencing (WGS), Sanger sequencing, RT‐PCR, and ToPO TA cloning analyse
Externí odkaz:
https://doaj.org/article/1f3b9fc61a8f499dbeb9df4237588bba
Autor:
Isabella V. Hendrickson, Pamela Brock, Sandya Liyanarachchi, Albert de la Chapelle, Lianbo Yu, Huiling He, Mehek S. Sheikh, Luke K Genutis, Daniel F. Comiskey
Publikováno v:
Journal of Medical Genetics. 57:519-527
BackgroundPapillary thyroid carcinoma (PTC) demonstrates high heritability and a low somatic mutation burden relative to other cancers. Therefore, the genetic risk predisposing to PTC is likely due to a combination of low penetrance variants. A recen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9b18822689cb6592b2b9eb7a93d2ef62
https://doi.org/10.1136/jmedgenet-2019-106554
https://doi.org/10.1136/jmedgenet-2019-106554
Autor:
Pamela Brock, Taina T. Nieminen, Huiling He, Yanqiang Wang, Daniel F. Comiskey, Isabella V. Hendrickson, W. G. Li, Sandya Liyanarachchi, Albert de la Chapelle
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 5, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine, Vol 9, Iss 5, Pp n/a-n/a (2021)
Background We studied a large family with 22 individuals affected with autosomal dominant hereditary spherocytosis (HS). Methods Genome‐wide linkage, whole‐genome sequencing (WGS), Sanger sequencing, RT‐PCR, and ToPO TA cloning analyses were pe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b87b603605f41f06b179466c4b16094
https://pubmed.ncbi.nlm.nih.gov/33943044
https://pubmed.ncbi.nlm.nih.gov/33943044
Autor:
Mehek S. Sheikh, Huiling He, Daniel F. Comiskey, Isabella V. Hendrickson, Sandya Liyanarachchi, Lianbo Yu, Pamela Brock, Albert de la Chapelle
Publikováno v:
Scientific Reports
Scientific Reports, Vol 10, Iss 1, Pp 1-11 (2020)
Scientific Reports, Vol 10, Iss 1, Pp 1-11 (2020)
Papillary thyroid carcinoma (PTC) is the most common histotype of thyroid carcinoma. The heritability of PTC is high compared to other cancers, but its underlying causes are unknown. A recent genome-wide association study revealed the association of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c25f4d817e4bc231c9ea318e3d7b2e8e
https://doi.org/10.1038/s41598-020-76606-0
https://doi.org/10.1038/s41598-020-76606-0
Autor:
Daniel Forrest, Comiskey, Huiling, He, Sandya, Liyanarachchi, Mehek S, Sheikh, Luke K, Genutis, Isabella V, Hendrickson, Lianbo, Yu, Pamela L, Brock, Albert, de la Chapelle
Publikováno v:
Journal of medical genetics. 57(8)
Papillary thyroid carcinoma (PTC) demonstrates high heritability and a low somatic mutation burden relative to other cancers. Therefore, the genetic risk predisposing to PTC is likely due to a combination of low penetrance variants. A recent genome-w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5d22f8b222cb8df0616bd9fede74129a
https://pubmed.ncbi.nlm.nih.gov/32051256
https://pubmed.ncbi.nlm.nih.gov/32051256