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SMAD4 mosaicism in juvenile polyposis: Essential contribution of somatic analysis in diagnosis.
Am J Med Genet A. 2024 May 2:e63648. doi: 10.1002/ajmg.a.63648. Online ahead of print.
Am J Med Genet A. 2024.
PMID: 38695688
Mandibular Endochondral Growth Is Specifically Augmented by Nutritional Supplementation with Myo-Inositol Even in Rabbits.
Shimoyama M, Kanzaki H, Tohyama S, Ida T, Ishikawa M, Katsumata Y, Arai C, Wada S, Manase S, Tomonari H.
Shimoyama M, et al. Among authors: manase s.
Dent J (Basel). 2024 Feb 26;12(3):49. doi: 10.3390/dj12030049.
Dent J (Basel). 2024.
PMID: 38534273
Free PMC article.
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Early diagnosis of aortic calcification through dental X-ray examination for dental pulp stones.
Ishikawa M, Kanzaki H, Kodera R, Sekimizu T, Wada S, Tohyama S, Ida T, Shimoyama M, Manase S, Tomonari H, Kuroda N.
Ishikawa M, et al. Among authors: manase s.
Sci Rep. 2023 Oct 30;13(1):18576. doi: 10.1038/s41598-023-45902-w.
Sci Rep. 2023.
PMID: 37903847
Free PMC article.
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Detecting inversions in routine molecular diagnosis in MMR genes.
Kasper E, Coutant S, Manase S, Vasseur S, Macquère P, Bougeard G, Faivre L, Ingster O, Baert-Desurmont S, Houdayer C.
Kasper E, et al. Among authors: manase s.
Fam Cancer. 2022 Oct;21(4):423-428. doi: 10.1007/s10689-021-00287-5. Epub 2022 Jan 8.
Fam Cancer. 2022.
PMID: 34997397
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Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium.
Boulouard F, Kasper E, Buisine MP, Lienard G, Vasseur S, Manase S, Bahuau M, Barouk Simonet E, Bubien V, Coulet F, Cusin V, Dhooge M, Golmard L, Goussot V, Hamzaoui N, Lacaze E, Lejeune S, Mauillon J, Beaumont MP, Pinson S, Tlemsani C, Toulas C, Rey JM, Uhrhammer N, Bougeard G, Frebourg T, Houdayer C, Baert-Desurmont S.
Boulouard F, et al. Among authors: manase s.
Clin Genet. 2021 May;99(5):662-672. doi: 10.1111/cge.13925. Epub 2021 Feb 12.
Clin Genet. 2021.
PMID: 33454955
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Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation.
Quenez O, Cassinari K, Coutant S, Lecoquierre F, Le Guennec K, Rousseau S, Richard AC, Vasseur S, Bouvignies E, Bou J, Lienard G, Manase S, Fourneaux S, Drouot N, Nguyen-Viet V, Vezain M, Chambon P, Joly-Helas G, Le Meur N, Castelain M, Boland A, Deleuze JF; FREX Consortium; Tournier I, Charbonnier F, Kasper E, Bougeard G, Frebourg T, Saugier-Veber P, Baert-Desurmont S, Campion D, Rovelet-Lecrux A, Nicolas G.
Quenez O, et al. Among authors: manase s.
Eur J Hum Genet. 2021 Jan;29(1):99-109. doi: 10.1038/s41431-020-0672-2. Epub 2020 Jun 26.
Eur J Hum Genet. 2021.
PMID: 32591635
Free PMC article.
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Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes.
Baert-Desurmont S, Coutant S, Charbonnier F, Macquere P, Lecoquierre F, Schwartz M, Blanluet M, Vezain M, Lanos R, Quenez O, Bou J, Bouvignies E, Fourneaux S, Manase S, Vasseur S, Mauillon J, Gerard M, Marlin R, Bougeard G, Tinat J, Frebourg T, Tournier I.
Baert-Desurmont S, et al. Among authors: manase s.
Eur J Hum Genet. 2018 Nov;26(11):1597-1602. doi: 10.1038/s41431-018-0207-2. Epub 2018 Jul 2.
Eur J Hum Genet. 2018.
PMID: 29967336
Free PMC article.
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Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome.
Renaux-Petel M, Charbonnier F, Théry JC, Fermey P, Lienard G, Bou J, Coutant S, Vezain M, Kasper E, Fourneaux S, Manase S, Blanluet M, Leheup B, Mansuy L, Champigneulle J, Chappé C, Longy M, Sévenet N, Paillerets BB, Guerrini-Rousseau L, Brugières L, Caron O, Sabourin JC, Tournier I, Baert-Desurmont S, Frébourg T, Bougeard G.
Renaux-Petel M, et al. Among authors: manase s.
J Med Genet. 2018 Mar;55(3):173-180. doi: 10.1136/jmedgenet-2017-104976. Epub 2017 Oct 25.
J Med Genet. 2018.
PMID: 29070607
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