Fokstuen S - Search Results

1

Odyssey of a Misclassified Genomic Variant: Insight from an Incidental Finding Assessment.

Zgheib O, Trombetti A, Juillerat A, Fokstuen S. Zgheib O, et al. Among authors: fokstuen s. Child Neurol Open. 2023 Aug 30;10:2329048X231199327. doi: 10.1177/2329048X231199327. eCollection 2023 Jan-Dec. Child Neurol Open. 2023. PMID: 37664540 Free PMC article.

2

[Rare causes of Hypophosphatemia: diagnostic approach].

Trombetti A, Fokstuen S, Parvex P. Trombetti A, et al. Among authors: fokstuen s. Rev Med Suisse. 2023 Apr 19;19(823):770-775. doi: 10.53738/REVMED.2023.19.823.770. Rev Med Suisse. 2023. PMID: 37133959 French.

3

Case report: desmoplakin cardiomyopathy presenting as an inflammatory cardiomyopathy with repeated sudden cardiac arrests.

Massie E, Dominati A, Suchet S, Carballo D, Hervier E, Fokstuen S, Seebach JD, Meyer P. Massie E, et al. Among authors: fokstuen s. Eur Heart J Case Rep. 2024 Apr 3;8(4):ytae160. doi: 10.1093/ehjcr/ytae160. eCollection 2024 Apr. Eur Heart J Case Rep. 2024. PMID: 38887779 Free PMC article.

4

Noninvasive prenatal diagnosis of Mendelian disorders for consanguineous couples by relative genotype dosage.

Fokstuen S, Quteineh L, Schwitzgebel VM, Köhler-Ballan B, Blouin JL, Abramowicz M, Nouspikel T. Fokstuen S, et al. Clin Genet. 2023 Nov;104(5):505-515. doi: 10.1111/cge.14399. Epub 2023 Jul 12. Clin Genet. 2023. PMID: 37434539

5

Evolution and triggers of defibrillator shocks in patients with arrhythmogenic right ventricular cardiomyopathy.

Molitor N, Hofer D, Çimen T, Gasperetti A, Akdis D, Costa S, Jenni R, Breitenstein A, Wolber T, Winnik S, Fokstuen S, Fu G, Medeiros-Domingo A, Ruschitzka F, Brunckhorst C, Duru F, Saguner AM. Molitor N, et al. Among authors: fokstuen s. Heart. 2023 Jul 12;109(15):1146-1152. doi: 10.1136/heartjnl-2022-321739. Heart. 2023. PMID: 36889907

6

Brugada Syndrome Associated with Different Heterozygous SCN5A Variants in Two Unrelated Families.

Molitor N, Medeiros-Domingo A, Fokstuen S, Ruschitzka F, Duru F, Saguner A. Molitor N, et al. Among authors: fokstuen s. J Clin Med. 2022 Sep 24;11(19):5625. doi: 10.3390/jcm11195625. J Clin Med. 2022. PMID: 36233494 Free PMC article.

7

Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis.

Marconi C, Lemmens L, Masclaux F, Mattioli F, Fluss J, Extermann P, Mendez P, Leuchter RH, Stathaki E, Laurent S, Hammar E, Vannier A, Varvagiannis K, Guipponi M, Sloan-Bena F, Blouin JL, Abramowicz M, Fokstuen S. Marconi C, et al. Among authors: fokstuen s. Clin Genet. 2021 Sep;100(3):329-333. doi: 10.1111/cge.14004. Epub 2021 Jun 14. Clin Genet. 2021. PMID: 34037256 Free PMC article.

8

Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome).

Carminho-Rodrigues MT, Steel D, Sousa SB, Brandt G, Guipponi M, Laurent S, Fokstuen S, Moren A, Zacharia A, Dirren E, Oliveira R, Kurian MA, Burkhard PR, Bally JF. Carminho-Rodrigues MT, et al. Among authors: fokstuen s. Am J Med Genet A. 2020 Sep;182(9):2129-2132. doi: 10.1002/ajmg.a.61731. Epub 2020 Jul 6. Am J Med Genet A. 2020. PMID: 32627382

9

Management of delivery of a fetus with autosomal recessive polycystic kidney disease: a case report of abdominal dystocia and review of the literature.

Belin S, Delco C, Parvex P, Hanquinet S, Fokstuen S, Martinez de Tejada B, Eperon I. Belin S, et al. Among authors: fokstuen s. J Med Case Rep. 2019 Dec 12;13(1):366. doi: 10.1186/s13256-019-2293-3. J Med Case Rep. 2019. PMID: 31829256 Free PMC article. Review.

10

Recommendations for genetic testing and counselling after sudden cardiac death: practical aspects for Swiss practice.

Medeiros Domingo A, Bolliger S, Gräni C, Rieubland C, Hersch D, Asatryan B, Schyma C, Saguner A, Wyler D, Bhuiyan Z, Fellman F, Osculati AM, Ringger R, Fokstuen S, Sabatasso S, Wilhelm M, Michaud K; Swiss Working Group on Sudden Cardiac Death. Medeiros Domingo A, et al. Among authors: fokstuen s. Swiss Med Wkly. 2018 Jul 12;148:w14638. doi: 10.57187/smw.2018.14638. eCollection 2018. Swiss Med Wkly. 2018. PMID: 30044475 Free article.

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