E-LIB Suche - Ergebnisse für: Isabel Spier

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

Clinically relevant combined effect of polygenic background..:

Hassanin, Emadeldin ; Spier, Isabel ; Bobbili, Dheeraj R....
BMC Medical Genomics. 16 (2023) 1 - p. , 2023

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

3

MTHFR C677T and A1298C polymorphism's effect on risk of col..:

Wiik, Mariann Unhjem ; Negline, Mia ; Beisvåg, Vidar...
Scientific Reports. 13 (2023) 1 - p. , 2023

Link: https://doi.org/10.1038/..

4

Wnt genes in colonic polyposis predisposition:

Quintana, Isabel ; Terradas, Mariona ; Mur, Pilar...
Genes & Diseases. 10 (2023) 3 - p. 753-757 , 2023

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

5

Catch them if you are aware: PTEN postzygotic mosaicism in ..:

Hendricks, Linda A.J. ; Schuurs-Hoeijmakers, Janneke ; Spier, Isabel...
European Journal of Medical Genetics. 65 (2022) 7 - p. 104533 , 2022

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

6

Breast and prostate cancer risk: The interplay of polygenic..:

Hassanin, Emadeldin ; May, Patrick ; Aldisi, Rana...
Genetics in Medicine. 24 (2022) 3 - p. 576-585 , 2022

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

7

Cancer risks by sex and variant type in PTEN hamartoma tumo..:

Hendricks, Linda A J ; Hoogerbrugge, Nicoline ; Mensenkamp, Arjen R...
JNCI: Journal of the National Cancer Institute. 115 (2022) 1 - p. 93-103 , 2022

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

8

Genetic alterations of TP53 and OTX2 indicate increased ris..:

Goschzik, Tobias ; Mynarek, Martin ; Doerner, Evelyn...
Acta Neuropathologica. 144 (2022) 6 - p. 1143-1156 , 2022

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

9

Genotype-phenotype associations in a large PTEN Hamartoma T..:

Hendricks, Linda A.J. ; Hoogerbrugge, Nicoline ; Venselaar, Hanka...
European Journal of Medical Genetics. 65 (2022) 12 - p. 104632 , 2022

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

10

Solving the genetic aetiology of hereditary gastrointestina..:

Sommer, Anna K. ; te Paske, Iris B.A.W. ; Garcia-Pelaez, José...
European Journal of Medical Genetics. 65 (2022) 5 - p. 104475 , 2022

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

11

Germline mutations inWNK2could be associated with serrated ..:

Soares de Lima, Yasmin ; Arnau-Collell, Coral ; Muñoz, Jenifer...
Journal of Medical Genetics. 60 (2022) 6 - p. 557-567 , 2022

Link: https://doi.org/10.1136/..

12

mTOR inhibitors reduce enteropathy, intestinal bleeding and..:

Taylor, Henry ; Yerlioglu, Dilay ; Phen, Claudia...
Human Molecular Genetics. 30 (2021) 14 - p. 1273-1282 , 2021

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

13

Variant profiling of colorectal adenomas from three patient..:

Perne, Claudia ; Peters, Sophia ; Cartolano, Maria...
PLOS ONE. 16 (2021) 11 - p. e0259185 , 2021

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

14

Cancer predisposition and germline CTNNA1 variants:

Lobo, Silvana ; Benusiglio, Patrick R. ; Coulet, Florence...
European Journal of Medical Genetics. 64 (2021) 10 - p. 104316 , 2021

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

15

597 OUTCOMES OF ENDOSCOPIC SURVEILLANCE AND FAMILY HISTORY ..:

Hüneburg, Robert ; Marwitz, Tim ; Heling, Dominik...
Gastroenterology. 158 (2020) 6 - p. S-130 , 2020

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