BEAT CF pulmonary exacerbations core protocol for evaluating the management of pulmonary exacerbations in people with cystic fibrosis.
Trials
Schultz, Andre A; McLeod, Charlie C; Berry, Scott S; Marsh, Julie J; McKenzie, Anne A; Messer, Mitch M; Wood, Jamie J; Saville, Ben B; Jaffe, Adam A; Ranganathan, Sarath S; Stick, Steve S; Wark, Peter P; Webb, Steve S; Snelling, Tom T
Publication Date: 2023-03-22
Variant appearance in text: TG: 3700A>G; Ile1234Val
Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR.
Human Mutation
Nykamp, Keith K; Truty, Rebecca R; Riethmaier, Darlene D; Wilkinson, Julia J; Bristow, Sara L SL; Aguilar, Sienna S; Neitzel, Dana D; Faulkner, Nicole N; Aradhya, Swaroop S
Publication Date: 2021-09
Variant appearance in text: TG: 3700A>G; Ile1234Val
The role of myoglobin in epithelial cancers: Insights from transcriptomics.
International Journal Of Molecular Medicine
Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T
Publication Date: 2020-02
Variant appearance in text: TG: 3700A>G; Ile1234Val
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Nature Genetics
Pol, Arjan A; Renkema, G Herma GH; Tangerman, Albert A; Winkel, Edwin G EG; Engelke, Udo F UF; de Brouwer, Arjan P M APM; Lloyd, Kent C KC; Araiza, Renee S RS; van den Heuvel, Lambert L; Omran, Heymut H; Olbrich, Heike H; Oude Elberink, Marijn M; Gilissen, Christian C; Rodenburg, Richard J RJ; Sass, Jörn Oliver JO; Schwab, K Otfried KO; Schäfer, Hendrik H; Venselaar, Hanka H; Sequeira, J Silvia JS; Op den Camp, Huub J M HJM; Wevers, Ron A RA
The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.
European Journal Of Human Genetics : Ejhg
Girardet, Anne A; Viart, Victoria V; Plaza, Stéphanie S; Daina, Gemma G; De Rycke, Martine M; Des Georges, Marie M; Fiorentino, Francesco F; Harton, Gary G; Ishmukhametova, Aliya A; Navarro, Joaquima J; Raynal, Caroline C; Renwick, Pamela P; Saguet, Florielle F; Schwarz, Martin M; SenGupta, Sioban S; Tzetis, Maria M; Roux, Anne-Françoise AF; Claustres, Mireille M