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Page 1
Morphological and genetic causes of fetal cardiomyopathies.
Kohaut E, Ader F, Rooryck C, Pelluard F, Bonnière M, André G, Sauvestre F, Roth P, Khraiche D, Bessières B, Attié-Bitach T, Richard P. Kohaut E, et al. Among authors: bonniere m. Clin Genet. 2023 Jul;104(1):63-72. doi: 10.1111/cge.14333. Epub 2023 May 20. Clin Genet. 2023. PMID: 37209000
Geleophysic and acromicric dysplasias: natural history, genotype-phenotype correlations, and management guidelines from 38 cases.
Marzin P, Thierry B, Dancasius A, Cavau A, Michot C, Rondeau S, Baujat G, Phan G, Bonnière M, Le Bourgeois M, Khraiche D, Pejin Z, Bonnet D, Delacourt C, Cormier-Daire V. Marzin P, et al. Among authors: bonniere m. Genet Med. 2021 Feb;23(2):331-340. doi: 10.1038/s41436-020-00994-x. Epub 2020 Oct 21. Genet Med. 2021. PMID: 33082559 Free article.
Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene.
Billon C, Molin A, Poirsier C, Clemenson A, Dauge C, Grelet M, Sigaudy S, Patrier S, Goldenberg A, Layet V, Tantau J, Fleury C, Liard A, Diguet A, Fritih R, Verspyck E, Rendu J, Boutaud L, Tessier A, Thomas S, Razavi F, Achaiaa A, Elkhartoufi N, Hakkakian L, Magnin E, Bôle-Feysot C, Masson C, Ville Y, Roth P, Prieur F, Bessieres B, Bonniere M, Attie-Bitach T. Billon C, et al. Among authors: bonniere m. Clin Genet. 2020 Sep;98(3):261-273. doi: 10.1111/cge.13801. Epub 2020 Aug 4. Clin Genet. 2020. PMID: 32621347
TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A.
Boussion S, Escande F, Jourdain AS, Smol T, Brunelle P, Duhamel C, Alembik Y, Attié-Bitach T, Baujat G, Bazin A, Bonnière M, Carassou P, Carles D, Devisme L, Goizet C, Goldenberg A, Grotto S, Guichet A, Jouk PS, Loeuillet L, Mechler C, Michot C, Pelluard F, Putoux A, Whalen S, Ghoumid J, Manouvrier-Hanu S, Petit F. Boussion S, et al. Among authors: bonniere m. Hum Mutat. 2020 Jul;41(7):1220-1225. doi: 10.1002/humu.24021. Epub 2020 Apr 6. Hum Mutat. 2020. PMID: 32227665
Prenatal diagnosis of cerebro-oculo-facio-skeletal syndrome: Report of three fetuses and review of the literature.
Le Van Quyen P, Calmels N, Bonnière M, Chartier S, Razavi F, Chelly J, El Chehadeh S, Baer S, Boutaud L, Bacrot S, Obringer C, Favre R, Attié-Bitach T, Laugel V, Antal MC. Le Van Quyen P, et al. Among authors: bonniere m. Am J Med Genet A. 2020 May;182(5):1236-1242. doi: 10.1002/ajmg.a.61520. Epub 2020 Feb 13. Am J Med Genet A. 2020. PMID: 32052936
Amniotic bands and associated polymicrogyria: In favor of a unique ischemic cause.
Feucht F, Vaast P, Bonniere M, Colson C, Mamouri O, Joriot S, Houfflin Debarge V. Feucht F, et al. Among authors: bonniere m. Eur J Obstet Gynecol Reprod Biol. 2019 May;236:252-254. doi: 10.1016/j.ejogrb.2019.03.015. Epub 2019 Mar 20. Eur J Obstet Gynecol Reprod Biol. 2019. PMID: 30955893 No abstract available.
Mutations in IFT80 cause SRPS Type IV. Report of two families and review.
Bizaoui V, Huber C, Kohaut E, Roume J, Bonnière M, Attié-Bitach T, Cormier-Daire V. Bizaoui V, et al. Among authors: bonniere m. Am J Med Genet A. 2019 Apr;179(4):639-644. doi: 10.1002/ajmg.a.61050. Epub 2019 Feb 14. Am J Med Genet A. 2019. PMID: 30767363
A clinical and histopathological study of malformations observed in fetuses infected by the Zika virus.
Beaufrère A, Bessières B, Bonnière M, Driessen M, Alfano C, Couderc T, Thiry M, Thelen N, Lecuit M, Attié-Bitach T, Vekemans M, Ville Y, Nguyen L, Leruez-Ville M, Encha-Razavi F. Beaufrère A, et al. Among authors: bonniere m. Brain Pathol. 2019 Jan;29(1):114-125. doi: 10.1111/bpa.12644. Epub 2018 Oct 5. Brain Pathol. 2019. PMID: 30020561 Free PMC article.
35 results