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Year Number of Results
2006 1
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2013 8
2014 3
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2019 5
2020 4
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2023 1
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Page 1
Monoallelic CRMP1 gene variants cause neurodevelopmental disorder.
Ravindran E, Arashiki N, Becker LL, Takizawa K, Lévy J, Rambaud T, Makridis KL, Goshima Y, Li N, Vreeburg M, Demeer B, Dickmanns A, Stegmann APA, Hu H, Nakamura F, Kaindl AM. Ravindran E, et al. Among authors: demeer b. Elife. 2022 Dec 13;11:e80793. doi: 10.7554/eLife.80793. Elife. 2022. PMID: 36511780 Free PMC article.
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.
Faivre L, Crépin JC, Réda M, Nambot S, Carmignac V, Abadie C, Mirault T, Faure-Conter C, Mazereeuw-Hautier J, Maza A, Puzenat E, Collonge-Rame MA, Bursztejn AC, Philippe C, Thauvin-Robinet C, Chevarin M, Abasq-Thomas C, Amiel J, Arpin S, Barbarot S, Baujat G, Bessis D, Bourrat E, Boute O, Chassaing N, Coubes C, Demeer B, Edery P, El Chehadeh S, Goldenberg A, Hadj-Rabia S, Haye D, Isidor B, Jacquemont ML, Van Kien PK, Lacombe D, Lehalle D, Lambert L, Martin L, Maruani A, Morice-Picard F, Petit F, Phan A, Pinson L, Rossi M, Touraine R, Vanlerberghe C, Vincent M, Vincent-Delorme C, Whalen S, Willems M, Marle N, Verkarre V, Devalland C, Devouassoux-Shisheboran M, Abad M, Rioux-Leclercq N, Bonniaud B, Duffourd Y, Martel J, Binquet C, Kuentz P, Vabres P. Faivre L, et al. Among authors: demeer b. Clin Genet. 2023 Nov;104(5):554-563. doi: 10.1111/cge.14410. Epub 2023 Aug 14. Clin Genet. 2023. PMID: 37580112
Maternal Transmission Ratio Distortion of GNAS Loss-of-Function Mutations.
Snanoudj S, Molin A, Colson C, Coudray N, Paulien S, Mittre H, Gérard M, Schaefer E, Goldenberg A, Bacchetta J, Odent S, Naudion S, Demeer B, Faivre L, Gruchy N, Kottler ML, Richard N. Snanoudj S, et al. Among authors: demeer b. J Bone Miner Res. 2020 May;35(5):913-919. doi: 10.1002/jbmr.3948. Epub 2020 Jan 13. J Bone Miner Res. 2020. PMID: 31886927 Free article.
Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature.
Cottereau E, Mortemousque I, Moizard MP, Bürglen L, Lacombe D, Gilbert-Dussardier B, Sigaudy S, Boute O, David A, Faivre L, Amiel J, Robertson R, Viana Ramos F, Bieth E, Odent S, Demeer B, Mathieu M, Gaillard D, Van Maldergem L, Baujat G, Maystadt I, Héron D, Verloes A, Philip N, Cormier-Daire V, Frouté MF, Pinson L, Blanchet P, Sarda P, Willems M, Jacquinet A, Ratbi I, Van Den Ende J, Lackmy-Port Lis M, Goldenberg A, Bonneau D, Rossignol S, Toutain A. Cottereau E, et al. Among authors: demeer b. Am J Med Genet C Semin Med Genet. 2013 May;163C(2):92-105. doi: 10.1002/ajmg.c.31360. Epub 2013 Apr 18. Am J Med Genet C Semin Med Genet. 2013. PMID: 23606591 Review.
Incomplete penetrance of biallelic ALDH1A3 mutations.
Plaisancié J, Brémond-Gignac D, Demeer B, Gaston V, Verloes A, Fares-Taie L, Gerber S, Rozet JM, Calvas P, Chassaing N. Plaisancié J, et al. Among authors: demeer b. Eur J Med Genet. 2016 Apr;59(4):215-8. doi: 10.1016/j.ejmg.2016.02.004. Epub 2016 Feb 10. Eur J Med Genet. 2016. PMID: 26873617
Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.
Vabres P, Sorlin A, Kholmanskikh SS, Demeer B, St-Onge J, Duffourd Y, Kuentz P, Courcet JB, Carmignac V, Garret P, Bessis D, Boute O, Bron A, Captier G, Carmi E, Devauchelle B, Geneviève D, Gondry-Jouet C, Guibaud L, Lafon A, Mathieu-Dramard M, Thevenon J, Dobyns WB, Bernard G, Polubothu S, Faravelli F, Kinsler VA, Thauvin C, Faivre L, Ross ME, Rivière JB. Vabres P, et al. Among authors: demeer b. Nat Genet. 2019 Oct;51(10):1438-1441. doi: 10.1038/s41588-019-0498-4. Epub 2019 Sep 30. Nat Genet. 2019. PMID: 31570889 Free PMC article.
Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: six new patients.
Jedraszak G, Demeer B, Mathieu-Dramard M, Andrieux J, Receveur A, Weber A, Maye U, Foulds N, Temple IK, Crolla J, Alex-Cordier MP, Sanlaville D, Ewans L, Wilson M, Armstrong R, Clarkson A, Copin H, Morin G. Jedraszak G, et al. Among authors: demeer b. Am J Med Genet A. 2015 Mar;167A(3):504-11. doi: 10.1002/ajmg.a.36882. Epub 2015 Jan 8. Am J Med Genet A. 2015. PMID: 25572454 Review.
Fetal phenotype of Rubinstein-Taybi syndrome caused by CREBBP mutations.
Van-Gils J, Naudion S, Toutain J, Lancelot G, Attié-Bitach T, Blesson S, Demeer B, Doray B, Gonzales M, Martinovic J, Whalen S, Taine L, Arveiler B, Lacombe D, Fergelot P. Van-Gils J, et al. Among authors: demeer b. Clin Genet. 2019 Mar;95(3):420-426. doi: 10.1111/cge.13493. Epub 2019 Jan 11. Clin Genet. 2019. PMID: 30633342
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.
Courraud J, Chater-Diehl E, Durand B, Vincent M, Del Mar Muniz Moreno M, Boujelbene I, Drouot N, Genschik L, Schaefer E, Nizon M, Gerard B, Abramowicz M, Cogné B, Bronicki L, Burglen L, Barth M, Charles P, Colin E, Coubes C, David A, Delobel B, Demurger F, Passemard S, Denommé AS, Faivre L, Feger C, Fradin M, Francannet C, Genevieve D, Goldenberg A, Guerrot AM, Isidor B, Johannesen KM, Keren B, Kibæk M, Kuentz P, Mathieu-Dramard M, Demeer B, Metreau J, Steensbjerre Møller R, Moutton S, Pasquier L, Pilekær Sørensen K, Perrin L, Renaud M, Saugier P, Rio M, Svane J, Thevenon J, Tran Mau Them F, Tronhjem CE, Vitobello A, Layet V, Auvin S, Khachnaoui K, Birling MC, Drunat S, Bayat A, Dubourg C, El Chehadeh S, Fagerberg C, Mignot C, Guipponi M, Bienvenu T, Herault Y, Thompson J, Willems M, Mandel JL, Weksberg R, Piton A. Courraud J, et al. Among authors: demeer b. Genet Med. 2021 Nov;23(11):2150-2159. doi: 10.1038/s41436-021-01263-1. Epub 2021 Aug 3. Genet Med. 2021. PMID: 34345024 Free article.
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
Fares-Taie L, Gerber S, Chassaing N, Clayton-Smith J, Hanein S, Silva E, Serey M, Serre V, Gérard X, Baumann C, Plessis G, Demeer B, Brétillon L, Bole C, Nitschke P, Munnich A, Lyonnet S, Calvas P, Kaplan J, Ragge N, Rozet JM. Fares-Taie L, et al. Among authors: demeer b. Am J Hum Genet. 2013 Feb 7;92(2):265-70. doi: 10.1016/j.ajhg.2012.12.003. Epub 2013 Jan 9. Am J Hum Genet. 2013. PMID: 23312594 Free PMC article.
36 results