E-LIB Suche - Ergebnisse für: Hansen, Thomas v O

1

Gene-specific ACMG/AMP classification criteria for germline..:

Spier, Isabel ; Yin, Xiaoyu ; Richardson, Marcy...
Genetics in Medicine. 26 (2024) 2 - p. 100992 , 2024

Link: https://doi.org/10.1016/..

2

Male with an apparently normal phenotype carrying a BRCA1 e..:

Block, Ines ; Mateu-Regué, Àngels ; Do, Thi Tuyet Nhu...
Breast Cancer Research. 26 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

3

Risks of breast and ovarian cancer for women harboring path..:

Li, Hongyan ; Engel, Christoph ; de la Hoya, Miguel...
Genetics in Medicine. 24 (2022) 1 - p. 119-129 , 2022

Link: https://doi.org/10.1016/..

4

Clinical, splicing, and functional analysis to classifyBRCA..:

Thomassen, Mads ; Mesman, Romy L. S. ; Hansen, Thomas V. O....
Human Mutation. 43 (2022) 12 - p. 1921-1944 , 2022

Link: https://doi.org/10.1002/..

5

Risks of breast and ovarian cancer for women harboring path..:

Li, Hongyan ; Engel, Christoph ; Hoya, Miguel de la...
Genetics in Medicine. 24 (2022) 10 - p. 2208 , 2022

Link: https://doi.org/10.1016/..

6

Classification of MSH6 Variants of Uncertain Significance U..:

Frederiksen, Jane H. ; Jensen, Sara B. ; Tümer, Zeynep.
International Journal of Molecular Sciences. 22 (2021) 16 - p. 8627 , 2021

Link: https://doi.org/10.3390/..

7

Ovarian and Breast Cancer Risks Associated With Pathogenic ..:

Yang, Xin ; Song, Honglin ; Leslie, Goska...
JNCI: Journal of the National Cancer Institute. 112 (2020) 12 - p. 1242-1250 , 2020

Link: https://doi.org/10.1093/..

8

A rare missense variant in APC interrupts splicing and caus..:

Djursby, Malene ; Wadt, Karin ; Frederiksen, Jane Hübertz...
Hereditary Cancer in Clinical Practice. 18 (2020) 1 - p. , 2020

Link: https://doi.org/10.1186/..

9

Nationwide germline whole genome sequencing of 198 consecut..:

Byrjalsen, Anna ; Hansen, Thomas V. O. ; Stoltze, Ulrik K....
PLOS Genetics. 16 (2020) 12 - p. e1009231 , 2020

Link: https://doi.org/10.1371/..

10

MicroRNA dysregulation in adenoid cystic carcinoma of the s..:

Andreasen, Simon ; Tan, Qihua ; Agander, Tina Klitmøller...
Virchows Archiv. 473 (2018) 3 - p. 329-340 , 2018

Link: https://doi.org/10.1007/..

11

Classification of the spliceogenic BRCA1 c.4096+3A>G varian..:

Byrjalsen, Anna ; Steffensen, Ane Y. ; Hansen, Thomas v. O...
Clinical Case Reports. 5 (2017) 6 - p. 876-879 , 2017

Link: https://doi.org/10.1002/..

12

Next-Generation Sequencing–Based Detection of Germline Copy..:

Schmidt, Ane Y. ; Hansen, Thomas v.O. ; Ahlborn, Lise B....
The Journal of Molecular Diagnostics. 19 (2017) 6 - p. 809-816 , 2017

Link: https://doi.org/10.1016/..

13

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C..:

de la Hoya, Miguel ; Soukarieh, Omar ; López-Perolio, Irene...
Human Molecular Genetics. 25 (2016) 11 - p. 2256-2268 , 2016

Link: https://doi.org/10.1093/..

14

Identification of six pathogenic RAD51C mutations via mutat..:

Jønson, Lars ; Ahlborn, Lise B. ; Steffensen, Ane Y....
Breast Cancer Research and Treatment. 155 (2016) 2 - p. 215-222 , 2016

Link: https://doi.org/10.1007/..

15

Identification of eight novel SDHB, SDHC, SDHD germline var..:

Bennedbæk, Marc ; Rossing, Maria ; Rasmussen, Åse K....
Hereditary Cancer in Clinical Practice. 14 (2016) 1 - p. , 2016

Link: https://doi.org/10.1186/..