Publications:

Outcomes of children with cystic fibrosis screen positive, inconclusive diagnosis/CFTR related metabolic syndrome.

Frontiers In Pediatrics

Gunnett, Mohini A MA; Baker, Elizabeth E; Mims, Cathy C; Self, Staci T ST; Gutierrez, Hector H HH; Guimbellot, Jennifer S JS

Publication Date: 2023

Variant appearance in text: CFTR: F191V

PubMed Link: 36969284

Variant Present in the following documents:

• Main text
• fped-11-1127659.pdf

View BVdb publication page

Translational Research in Cystic Fibrosis: From Bench to Beside.

Frontiers In Pediatrics

Garcia, Laura de Castro E LCE; Petry, Lucas Montiel LM; Germani, Pedro Augusto Van Der Sand PAVS; Xavier, Luiza Fernandes LF; de Barros, Paula Barros PB; Meneses, Amanda da Silva ADS; Prestes, Laura Menestrino LM; Bittencourt, Luana Braga LB; Pieta, Marina Puerari MP; Friedrich, Frederico F; Pinto, Leonardo Araújo LA

Publication Date: 2022

Variant appearance in text: CFTR: F191V

PubMed Link: 35652053

Variant Present in the following documents:

• Main text
• fped-10-881470.pdf

View BVdb publication page

Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)

Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI

Publication Date: 2020

Variant appearance in text: rs141482808

PubMed Link: 34541464

Variant Present in the following documents:

• cdr-3-959-SupplementaryMaterials.xlsx, sheet 4

View BVdb publication page

Personalised medicine for non-classic cystic fibrosis resulting from rare CFTR mutations.

The European Respiratory Journal

McCravy, Matthew S MS; Quinney, Nancy L NL; Cholon, Deborah M DM; Boyles, Susan E SE; Jensen, Timothy J TJ; Aleksandrov, Andrei A AA; Donaldson, Scott H SH; Noone, Peadar G PG; Gentzsch, Martina M

Publication Date: 2020-07

Variant appearance in text: CFTR: 571T>G; F191V

PubMed Link: 32265312

Variant Present in the following documents:

• Main text

View BVdb publication page