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AQP5, a second gene at play with CFTR in aquagenic palmoplantar keratoderma.
Sperelakis-Beedham B, Lopez M, Bourrat E, Gaitch N, Houriez F, Martinez B, Fajac I, Burgel PR, Hickman G, Audrézet MP, Gonde D, Cabet F, Gerfaud-Valentin M, Nove-Josserand R, Raynal C, Pagin A, Reboul MP, de Becdelièvre A, Bienvenu T, Callebaut I, Girodon E. Sperelakis-Beedham B, et al. Among authors: raynal c. J Eur Acad Dermatol Venereol. 2023 May;37(5):e654-e657. doi: 10.1111/jdv.18869. Epub 2023 Jan 24. J Eur Acad Dermatol Venereol. 2023. PMID: 36645858 No abstract available.
[A rare complication of lumbar puncture: the spinal subdural hematoma].
Durupt S, Durieu I, Nove-Josserand R, Raynal C, Levrat R, Vital Durand D. Durupt S, et al. Among authors: raynal c. Rev Med Interne. 2000 Feb;21(2):199-200. doi: 10.1016/s0248-8663(00)88253-3. Rev Med Interne. 2000. PMID: 10703080 French. No abstract available.
ECFS standards of care on CFTR-related disorders: Identification and care of the disorders.
Simmonds NJ, Southern KW, De Wachter E, De Boeck K, Bodewes F, Mainz JG, Middleton PG, Schwarz C, Vloeberghs V, Wilschanski M, Bourrat E, Chalmers JD, Ooi CY, Debray D, Downey DG, Eschenhagen P, Girodon E, Hickman G, Koitschev A, Nazareth D, Nick JA, Peckham D, VanDevanter D, Raynal C, Scheers I, Waller MD, Sermet-Gaudelus I, Castellani C; ECFS Diagnostic Network Working Group. Simmonds NJ, et al. Among authors: raynal c. J Cyst Fibros. 2024 Mar 19:S1569-1993(24)00037-7. doi: 10.1016/j.jcf.2024.03.008. Online ahead of print. J Cyst Fibros. 2024. PMID: 38508949
Standards of care for CFTR variant-specific therapy (including modulators) for people with cystic fibrosis.
Southern KW, Castellani C, Lammertyn E, Smyth A, VanDevanter D, van Koningsbruggen-Rietschel S, Barben J, Bevan A, Brokaar E, Collins S, Connett GJ, Daniels TWV, Davies J, Declercq D, Gartner S, Gramegna A, Hamilton N, Hauser J, Kashirskaya N, Kessler L, Lowdon J, Makukh H, Martin C, Morrison L, Nazareth D, Noordhoek J, O'Neill C, Owen E, Oxley H, Raraigh KS, Raynal C, Robinson K, Roehmel J, Schwarz C, Sermet I, Shteinberg M, Sinha I, Takawira C, van Mourik P, Verkleij M, Waller MD, Duff A. Southern KW, et al. Among authors: raynal c. J Cyst Fibros. 2023 Jan;22(1):17-30. doi: 10.1016/j.jcf.2022.10.002. Epub 2022 Oct 28. J Cyst Fibros. 2023. PMID: 36916675 Free article.
The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy.
Bergougnoux A, Billet A, Ka C, Heller M, Degrugillier F, Vuillaume ML, Thoreau V, Sasorith S, Bareil C, Thèze C, Ferec C, Gac GL, Bienvenu T, Bieth E, Gaston V, Lalau G, Pagin A, Malinge MC, Dufernez F, Lemonnier L, Koenig M, Fergelot P, Claustres M, Taulan-Cadars M, Kitzis A, Reboul MP, Becq F, Fanen P, Mekki C, Audrezet MP, Girodon E, Raynal C. Bergougnoux A, et al. Among authors: raynal c. J Cyst Fibros. 2023 May;22(3):515-524. doi: 10.1016/j.jcf.2022.12.003. Epub 2022 Dec 23. J Cyst Fibros. 2023. PMID: 36567205
Reclassifying inconclusive diagnosis after newborn screening for cystic fibrosis. Moving forward.
Hatton A, Bergougnoux A, Zybert K, Chevalier B, Mesbahi M, Altéri JP, Walicka-Serzysko K, Postek M, Taulan-Cadars M, Edelman A, Hinzpeter A, Claustres M, Girodon E, Raynal C, Sermet-Gaudelus I, Sands D. Hatton A, et al. Among authors: raynal c. J Cyst Fibros. 2022 May;21(3):448-455. doi: 10.1016/j.jcf.2021.12.010. Epub 2021 Dec 21. J Cyst Fibros. 2022. PMID: 34949556 Free article.
Penetrance is a critical parameter for assessing the disease liability of CFTR variants.
Boussaroque A, Audrézet MP, Raynal C, Sermet-Gaudelus I, Bienvenu T, Férec C, Bergougnoux A, Lopez M, Scotet V, Munck A, Girodon E. Boussaroque A, et al. Among authors: raynal c. J Cyst Fibros. 2020 Nov;19(6):949-954. doi: 10.1016/j.jcf.2020.03.019. Epub 2020 Apr 20. J Cyst Fibros. 2020. PMID: 32327388 Free article.
78 results