Schutz S - Search Results

1

An unusual diagnosis of alpha-mannosidosis with ocular anomalies: Behind the scenes of a hidden copy number variation.

Uguen K, Redon S, Rouault K, Pensec M, Benech C, Schutz S, Zanlonghi X, Nadjar Y, Le Maréchal C, Férec C, Audebert-Bellanger S. Uguen K, et al. Among authors: schutz s. Am J Med Genet A. 2024 May;194(5):e63532. doi: 10.1002/ajmg.a.63532. Epub 2024 Jan 8. Am J Med Genet A. 2024. PMID: 38192009

2

Intragenic deletion of the WDR45 gene in a male with encephalopathy, severe psychomotor disability, and epilepsy.

Redon S, Benech C, Schutz S, Despres A, Gueguen P, Le Berre P, Le Marechal C, Peudenier S, Meriot P, Parent P, Ferec C. Redon S, et al. Among authors: schutz s. Am J Med Genet A. 2017 May;173(5):1444-1446. doi: 10.1002/ajmg.a.38180. Epub 2017 Apr 3. Am J Med Genet A. 2017. PMID: 28371320 No abstract available.

3

EXT1 and EXT2 Variants in 22 Chinese Families With Multiple Osteochondromas: Seven New Variants and Potentiation of Preimplantation Genetic Testing and Prenatal Diagnosis.

Wang Y, Zhong L, Xu Y, Ding L, Ji Y, Schutz S, Férec C, Cooper DN, Xu C, Chen JM, Luo Y. Wang Y, et al. Among authors: schutz s. Front Genet. 2020 Dec 22;11:607838. doi: 10.3389/fgene.2020.607838. eCollection 2020. Front Genet. 2020. PMID: 33414810 Free PMC article.

4

Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants.

Wu H, Lin JH, Tang XY, Marenne G, Zou WB, Schutz S, Masson E, Génin E, Fichou Y, Le Gac G, Férec C, Liao Z, Chen JM. Wu H, et al. Among authors: schutz s. Hum Genomics. 2024 Feb 27;18(1):21. doi: 10.1186/s40246-024-00586-9. Hum Genomics. 2024. PMID: 38414044 Free PMC article.

5

Non-Linear Pharmacokinetics of Oral Roscovitine (Seliciclib) in Cystic Fibrosis Patients Chronically Infected with Pseudomonas aeruginosa: A Study on Population Pharmacokinetics with Monte Carlo Simulations.

Leven C, Schutz S, Audrezet MP, Nowak E, Meijer L, Montier T. Leven C, et al. Among authors: schutz s. Pharmaceutics. 2020 Nov 12;12(11):1087. doi: 10.3390/pharmaceutics12111087. Pharmaceutics. 2020. PMID: 33198319 Free PMC article.

6

Genetic features of the poxtA linezolid resistance gene in human enterococci from France.

Dejoies L, Sassi M, Schutz S, Moreaux J, Zouari A, Potrel S, Collet A, Lecourt M, Auger G, Cattoir V. Dejoies L, et al. Among authors: schutz s. J Antimicrob Chemother. 2021 Jul 15;76(8):1978-1985. doi: 10.1093/jac/dkab116. J Antimicrob Chemother. 2021. PMID: 33895846

7

Superior Pedicle Breast Reduction: Multivariate Analysis of Complication Risk Factors and Building a Predictive Score in 1306 Patients.

Girard P, Berkane Y, Laloze J, Rousseau C, Lupon E, Schutz S, Watier E, Bertheuil N. Girard P, et al. Among authors: schutz s. Plast Reconstr Surg. 2024 May 1;153(5):1011-1019. doi: 10.1097/PRS.0000000000010828. Epub 2023 Jun 19. Plast Reconstr Surg. 2024. PMID: 37335587

8

Renal involvement is frequent in adults with primary mitochondrial disorders: an observational study.

Bakis H, Trimouille A, Vermorel A, Goizet C, Belaroussi Y, Schutz S, Solé G, Combe C, Martin-Negrier ML, Rigothier C. Bakis H, et al. Among authors: schutz s. Clin Kidney J. 2022 Sep 7;16(1):100-110. doi: 10.1093/ckj/sfac195. eCollection 2023 Jan. Clin Kidney J. 2022. PMID: 36726431 Free PMC article.

9

Cutevariant: a standalone GUI-based desktop application to explore genetic variations from an annotated VCF file.

Schutz S, Monod-Broca C, Bourneuf L, Marijon P, Montier T. Schutz S, et al. Bioinform Adv. 2021 Nov 25;2(1):vbab028. doi: 10.1093/bioadv/vbab028. eCollection 2022. Bioinform Adv. 2021. PMID: 36699349 Free PMC article.

10

Molecular and functional analysis of the novel cfr(D) linezolid resistance gene identified in Enterococcus faecium.

Guerin F, Sassi M, Dejoies L, Zouari A, Schutz S, Potrel S, Auzou M, Collet A, Lecointe D, Auger G, Cattoir V. Guerin F, et al. Among authors: schutz s. J Antimicrob Chemother. 2020 Jul 1;75(7):1699-1703. doi: 10.1093/jac/dkaa125. J Antimicrob Chemother. 2020. PMID: 32277823

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