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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2003 3
2004 4
2005 1
2006 5
2007 6
2008 4
2009 3
2010 2
2011 5
2012 3
2013 6
2014 5
2015 8
2016 4
2017 12
2018 7
2019 9
2020 6
2021 5
2022 7
2023 3

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91 results

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Page 1
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.
Allach El Khattabi L, Heide S, Caberg JH, Andrieux J, Doco Fenzy M, Vincent-Delorme C, Callier P, Chantot-Bastaraud S, Afenjar A, Boute-Benejean O, Cordier MP, Faivre L, Francannet C, Gerard M, Goldenberg A, Masurel-Paulet A, Mosca-Boidron AL, Marle N, Moncla A, Le Meur N, Mathieu-Dramard M, Plessis G, Lesca G, Rossi M, Edery P, Delahaye-Duriez A, De Pontual L, Tabet AC, Lebbar A, Suiro L, Ioos C, Natiq A, Chafai Elalaoui S, Missirian C, Receveur A, François-Fiquet C, Garnier P, Yardin C, Laroche C, Vago P, Sanlaville D, Dupont JM, Benzacken B, Pipiras E. Allach El Khattabi L, et al. Among authors: chantot bastaraud s. J Med Genet. 2020 May;57(5):301-307. doi: 10.1136/jmedgenet-2018-105389. Epub 2018 Oct 4. J Med Genet. 2020. PMID: 30287593
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller RS. Wolff M, et al. Among authors: chantot bastaraud s. Brain. 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054. Brain. 2017. PMID: 28379373
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač D, Jarc-Vidmar M, Zupan A, Battelino S, Martorell Sampol L, Claveria MA, Catala Mora J, Dad S, Møller LB, Rodriguez Jorge J, Hawlina M, Auricchio A, Sahel JA, Marlin S, Zrenner E, Audo I, Petit C. Bonnet C, et al. Among authors: chantot bastaraud s. Eur J Hum Genet. 2016 Dec;24(12):1730-1738. doi: 10.1038/ejhg.2016.99. Epub 2016 Jul 27. Eur J Hum Genet. 2016. PMID: 27460420 Free PMC article.
RNF213-associated urticarial lesions with hypercytokinemia.
Louvrier C, Awad F, Cosnes A, El Khouri E, Assrawi E, Daskalopoulou A, Copin B, Bocquet H, Chantot Bastaraud S, Arenas Garcia A, Dastot Le Moal F, De La Grange P, Duquesnoy P, Guerrera CI, Piterboth W, Ortonne N, Chosidow O, Karabina SA, Amselem S, Giurgea I. Louvrier C, et al. Among authors: chantot bastaraud s. J Allergy Clin Immunol. 2022 Dec;150(6):1545-1555. doi: 10.1016/j.jaci.2022.06.016. Epub 2022 Jun 30. J Allergy Clin Immunol. 2022. PMID: 35780935 Free article.
Underlying karyotype abnormalities in IVF/ICSI patients.
Chantot-Bastaraud S, Ravel C, Siffroi JP. Chantot-Bastaraud S, et al. Reprod Biomed Online. 2008 Apr;16(4):514-22. doi: 10.1016/s1472-6483(10)60458-0. Reprod Biomed Online. 2008. PMID: 18413060 Review.
Various Genital and Reproductive Phenotypes in 46,XX/46,XY Chimeras.
Hercent A, Amar E, Valent A, Belloc S, Ferraretto X, Hermieu JF, Battin-Bertho R, Storey C, Goubin-Versini I, Dijoud F, Tabet AC, Chantot-Bastaraud S, Peycelon M, Morel H, Siffroi JP. Hercent A, et al. Among authors: chantot bastaraud s. Sex Dev. 2019;13(5-6):271-277. doi: 10.1159/000510532. Epub 2020 Sep 19. Sex Dev. 2019. PMID: 32961533
Y chromosome variants and male reproductive function.
McElreavey K, Ravel C, Chantot-Bastaraud S, Siffroi JP. McElreavey K, et al. Among authors: chantot bastaraud s. Int J Androl. 2006 Feb;29(1):298-303; discussion 304-6. doi: 10.1111/j.1365-2605.2005.00637.x. Int J Androl. 2006. PMID: 16466551 Review.
Normal Growth despite Combined Pituitary Hormone Deficiency.
El Kholy M, Elsedfy H, Perin L, Abi Habid W, Thibaud N, Bozzola M, Rossignol S, Leneuve P, Godeau F, Chantot-Bastaraud S, Netchine I, Le Bouc Y. El Kholy M, et al. Among authors: chantot bastaraud s. Horm Res Paediatr. 2019;92(2):133-142. doi: 10.1159/000499318. Epub 2019 Apr 25. Horm Res Paediatr. 2019. PMID: 31022718
Congenital immobility and stiffness related to biallelic ATAD1 variants.
Bunod R, Doummar D, Whalen S, Keren B, Chantot-Bastaraud S, Maincent K, Villy MC, Mayer M, Rodriguez D, Burglen L, Léger PL, Kieffer F, Martin I, Héron D, Buratti J, Isapof A, Afenjar A, Billette de Villemeur T, Mignot C. Bunod R, et al. Among authors: chantot bastaraud s. Neurol Genet. 2020 Sep 24;6(6):e520. doi: 10.1212/NXG.0000000000000520. eCollection 2020 Dec. Neurol Genet. 2020. PMID: 33134516 Free PMC article.
91 results