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Page 1
An European overview of genetic counselling supervision provision.
Paneque M, Guimarães L, Bengoa J, Pasalodos S, Cordier C, Esteban I, Lemos C, Moldovan R, Serra-Juhé C. Paneque M, et al. Among authors: bengoa j. Eur J Med Genet. 2023 Apr;66(4):104710. doi: 10.1016/j.ejmg.2023.104710. Epub 2023 Jan 30. Eur J Med Genet. 2023. PMID: 36731744 Free article.
The recognition of the profession of Genetic Counsellors in Europe.
Cordier C, McAllister M, Serra-Juhe C, Bengoa J, Pasalodos S, Bjornevoll I, Feroce I, Moldovan R, Paneque M, Lambert D; All are member of the Board of the Genetic Nurses and Genetic Counsellors Professional Branch of the European Board of Medical Genetics. Cordier C, et al. Among authors: bengoa j. Eur J Hum Genet. 2018 Dec;26(12):1719-1720. doi: 10.1038/s41431-018-0260-x. Epub 2018 Sep 25. Eur J Hum Genet. 2018. PMID: 30254214 Free PMC article. No abstract available.
Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations.
Cormier-Daire V, AlSayed M, Alves I, Bengoa J, Ben-Omran T, Boero S, Fredwall S, Garel C, Guillen-Navarro E, Irving M, Lampe C, Maghnie M, Mortier G, Sousa SB, Mohnike K. Cormier-Daire V, et al. Among authors: bengoa j. Orphanet J Rare Dis. 2022 Jul 27;17(1):293. doi: 10.1186/s13023-022-02442-2. Orphanet J Rare Dis. 2022. PMID: 35897040 Free PMC article.
A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disorders.
Steffann J, Monnot S, Magen M, Assouline Z, Gigarel N, Ville Y, Salomon L, Bessiere B, Martinovic J, Rötig A, Bengoa J, Borghèse R, Munnich A, Barcia G, Bonnefont JP. Steffann J, et al. Among authors: bengoa j. Genet Med. 2021 Apr;23(4):720-731. doi: 10.1038/s41436-020-01043-3. Epub 2020 Dec 11. Genet Med. 2021. PMID: 33303968 Free article.
Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disorders.
Vachin P, Adda-Herzog E, Chalouhi G, Elie C, Rio M, Rondeau S, Gigarel N, Jabot Hanin F, Monnot S, Borghese R, Bengoa J, Ville Y, Rotig A, Munnich A, Bonnefont JP, Steffann J. Vachin P, et al. Among authors: bengoa j. J Med Genet. 2018 Feb;55(2):131-136. doi: 10.1136/jmedgenet-2017-104615. Epub 2017 Jul 28. J Med Genet. 2018. PMID: 28754700