Publications:

The Molecular Genetics of Marfan Syndrome.

International Journal Of Medical Sciences

Du, Qiu Q; Zhang, Dingding D; Zhuang, Yue Y; Xia, Qiongrong Q; Wen, Taishen T; Jia, Haiping H

Publication Date: 2021

Variant appearance in text: NOTCH1: Val1739Met

PubMed Link: 34220303

Variant Present in the following documents:

• Main text
• ijmsv18p2752.pdf

View BVdb publication page

Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications

Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A

Publication Date: 2021-04-14

Variant appearance in text: NOTCH1: V1739M

PubMed Link: 33854067

Variant Present in the following documents:

• 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9

View BVdb publication page

Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families.

Breast Cancer Research : Bcr

Van Marcke, Cédric C; Helaers, Raphaël R; De Leener, Anne A; Merhi, Ahmad A; Schoonjans, Céline A CA; Ambroise, Jérôme J; Galant, Christine C; Delrée, Paul P; Rothé, Françoise F; Bar, Isabelle I; Khoury, Elsa E; Brouillard, Pascal P; Canon, Jean-Luc JL; Vuylsteke, Peter P; Machiels, Jean-Pascal JP; Berlière, Martine M; Limaye, Nisha N; Vikkula, Miikka M; Duhoux, François P FP

Publication Date: 2020-04-15

Variant appearance in text: NOTCH1: 5215G>A; Val1739Met; rs377294245

PubMed Link: 32295625

Variant Present in the following documents:

• 13058_2020_1273_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

A model combining clinical and genomic factors to predict response to PD-1/PD-L1 blockade in advanced urothelial carcinoma.

British Journal Of Cancer

Nassar, Amin H AH; Mouw, Kent W KW; Jegede, Opeyemi O; Shinagare, Atul B AB; Kim, Jaegil J; Liu, Chia-Jen CJ; Pomerantz, Mark M; Harshman, Lauren C LC; Van Allen, Eliezer M EM; Wei, Xiao X XX; McGregor, Bradley B; Choudhury, Atish D AD; Preston, Mark A MA; Dong, Fei F; Signoretti, Sabina S; Lindeman, Neal I NI; Bellmunt, Joaquim J; Choueiri, Toni K TK; Sonpavde, Guru G; Kwiatkowski, David J DJ

Publication Date: 2020-02

Variant appearance in text: NOTCH1: 5215G>A; V1739M

PubMed Link: 31857723

Variant Present in the following documents:

• 41416_2019_686_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype.

Biomed Research International

Sticchi, Elena E; De Cario, Rosina R; Magi, Alberto A; Giglio, Sabrina S; Provenzano, Aldesia A; Nistri, Stefano S; Pepe, Guglielmina G; Giusti, Betti B

Publication Date: 2018

Variant appearance in text: NOTCH1: 5215G>A; Val1739Met; rs377294245

PubMed Link: 30255099

Variant Present in the following documents:

• Main text
• BMRI2018-8386123.pdf

View BVdb publication page