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

Year Number of Results
2003 2
2004 1
2005 1
2006 3
2007 3
2008 3
2009 3
2010 1
2011 3
2012 3
2013 6
2014 5
2015 8
2016 2
2017 10
2018 6
2019 9
2020 7
2021 6
2022 7
2023 4
2024 2

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79 results

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Page 1
Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia.
Thomas L, Cuisset L, Papon JF, Tamalet A, Pin I, Abou Taam R, Faucon C, Montantin G, Tissier S, Duquesnoy P, Dastot-Le Moal F, Copin B, Carion N, Louis B, Chantot-Bastaraud S, Siffroi JP, Mitri R, Coste A, Escudier E, Thouvenin G, Amselem S, Legendre M. Thomas L, et al. Among authors: chantot bastaraud s. J Med Genet. 2024 Feb 26:jmg-2023-109700. doi: 10.1136/jmg-2023-109700. Online ahead of print. J Med Genet. 2024. PMID: 38408845
Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy.
Zeitz C, Navarro J, Azizzadeh Pormehr L, Méjécase C, Neves LM, Letellier C, Condroyer C, Albadri S, Amprou A, Antonio A, Ben-Yacoub T, Wohlschlegel J, Andrieu C, Serafini M, Bianco L, Antropoli A, Nassisi M, El Shamieh S, Chantot-Bastaraud S, Mohand-Saïd S, Smirnov V, Sahel JA, Del Bene F, Audo I. Zeitz C, et al. Among authors: chantot bastaraud s. Genet Med. 2024 Jan 28:101081. doi: 10.1016/j.gim.2024.101081. Online ahead of print. Genet Med. 2024. PMID: 38293907 Free article.
First reports of fetal SMARCC1 related hydrocephalus.
Rive Le Gouard N, Nicolle R, Lefebvre M, Gelot A, Heide S, Gerasimenko A, Grigorescu R, Derive N, Jouannic JM, Garel C, Valence S, Quenum-Miraillet G, Chantot-Bastaraud S, Keren B, Heron D, Attie-Bitach T. Rive Le Gouard N, et al. Among authors: chantot bastaraud s. Eur J Med Genet. 2023 Aug;66(8):104797. doi: 10.1016/j.ejmg.2023.104797. Epub 2023 Jun 5. Eur J Med Genet. 2023. PMID: 37285932 Review.
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.
Jacquin C, Landais E, Poirsier C, Afenjar A, Akhavi A, Bednarek N, Bénech C, Bonnard A, Bosquet D, Burglen L, Callier P, Chantot-Bastaraud S, Coubes C, Coutton C, Delobel B, Descharmes M, Dupont JM, Gatinois V, Gruchy N, Guterman S, Heddar A, Herissant L, Heron D, Isidor B, Jaeger P, Jouret G, Keren B, Kuentz P, Le Caignec C, Levy J, Lopez N, Manssens Z, Martin-Coignard D, Marey I, Mignot C, Missirian C, Pebrel-Richard C, Pinson L, Puechberty J, Redon S, Sanlaville D, Spodenkiewicz M, Tabet AC, Verloes A, Vieville G, Yardin C, Vialard F, Doco-Fenzy M. Jacquin C, et al. Among authors: chantot bastaraud s. Am J Med Genet A. 2023 Feb;191(2):445-458. doi: 10.1002/ajmg.a.63041. Epub 2022 Nov 11. Am J Med Genet A. 2023. PMID: 36369750 Free PMC article.
The clinical course of interstitial lung disease in an adult patient with an ABCA3 homozygous complex allele under hydroxychloroquine and a review of the literature.
Legendre M, Darde X, Ferreira M, Chantot-Bastaraud S, Campana M, Plantier L, Nathan N, Amselem S, Toutain A, Diot P, Marchand-Adam S. Legendre M, et al. Among authors: chantot bastaraud s. Sarcoidosis Vasc Diffuse Lung Dis. 2022;39(2):e2022019. doi: 10.36141/svdld.v39i2.12730. Epub 2022 Jun 29. Sarcoidosis Vasc Diffuse Lung Dis. 2022. PMID: 36118545 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.
Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study.
Jouret G, Heide S, Sorlin A, Faivre L, Chantot-Bastaraud S, Beneteau C, Denis-Musquer M, Turnpenny PD, Coutton C, Vieville G, Thevenon J, Larson A, Petit F, Boudry E, Smol T, Delobel B, Duban-Bedu B, Fallerini C, Mari F, Lo Rizzo C, Renieri A, Caberg JH, Denommé-Pichon AS, Tran Mau-Them F, Maystadt I, Courtin T, Keren B, Mouthon L, Charles P, Cuinat S, Isidor B, Theis P, Müller C, Kulisic M, Türkmen S, Stieber D, Bourgeois D, Scalais E, Klink B. Jouret G, et al. Among authors: chantot bastaraud s. Clin Genet. 2022 Aug;102(2):117-122. doi: 10.1111/cge.14141. Epub 2022 Apr 25. Clin Genet. 2022. PMID: 35470444 Free article.
Whole exome sequencing in a cohort of familial premature ovarian insufficiency cases reveals a broad array of pathogenic or likely pathogenic variants in 50% of families.
Rouen A, Rogers E, Kerlan V, Delemer B, Catteau-Jonard S, Reznik Y, Gompel A, Cedrin I, Guedj AM, Grouthier V, Brue T, Pienkowski C, Bachelot A, Chantot-Bastaraud S, Rousseau A, Simon T, Kott E, Siffroi JP, Touraine P, Christin-Maitre S. Rouen A, et al. Among authors: chantot bastaraud s. Fertil Steril. 2022 Apr;117(4):843-853. doi: 10.1016/j.fertnstert.2021.12.023. Epub 2022 Jan 31. Fertil Steril. 2022. PMID: 35115167 Free article.
79 results