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Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders.
Thauvin-Robinet C, Garde A, Delanne J, Racine C, Rousseau T, Simon E, François M, Moutton S, Sylvie O, Quelin C, Morel G, Goldenberg A, Guerrot AM, Vera G, Gruchy N, Colson C, Boute O, Abel C, Putoux A, Amiel J, Guichet A, Isidor B, Deiller C, Wells C, Rooryck C, Legendre M, Francannet C, Dard R, Sigaudy S, Bruel AL, Safraou H, Denommé-Pichon AS, Nambot S, Asensio MH, Binquet C, Duffourd Y, Vitobello A, Philippe C, Faivre L, Tran-Mau-Them F, Bourgon N. Thauvin-Robinet C, et al. Among authors: bourgon n. Prenat Diagn. 2024 Sep;44(10):1179-1197. doi: 10.1002/pd.6623. Epub 2024 Aug 13. Prenat Diagn. 2024. PMID: 39138116
Corrigendum to "Consensus recommendation for prenatal, neonatal and postnatal management of congenital cytomegalovirus infection from the European congenital infection initiative (ECCI)" [The Lancet Regional Health - Europe 40 (2024) 100892].
Leruez-Ville M, Chatzakis C, Lilleri D, Blazquez-Gamero D, Alarcon A, Bourgon N, Foulon I, Fourgeaud J, Gonce A, Jones CE, Klapper P, Krom A, Lazzarotto T, Lyall H, Paixao P, Papaevangelou V, Puchhammer E, Sourvinos G, Vallely P, Ville Y, Vossen A. Leruez-Ville M, et al. Among authors: bourgon n. Lancet Reg Health Eur. 2024 Jun 24;42:100974. doi: 10.1016/j.lanepe.2024.100974. eCollection 2024 Jul. Lancet Reg Health Eur. 2024. PMID: 39050231 Free PMC article.
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.
Cuinat S, Quélin C, Effray C, Dubourg C, Le Bouar G, Cabaret-Dufour AS, Loget P, Proisy M, Sauvestre F, Sarreau M, Martin-Berenguer S, Beneteau C, Naudion S, Michaud V, Arveiler B, Trimouille A, Macé P, Sigaudy S, Glazunova O, Torrents J, Raymond L, Saint-Frison MH, Attié-Bitach T, Lefebvre M, Capri Y, Bourgon N, Thauvin-Robinet C, Tran Mau-Them F, Bruel AL, Vitobello A, Denommé-Pichon AS, Faivre L, Brehin AC, Goldenberg A, Patrier-Sallebert S, Perani A, Dauriat B, Bourthoumieu S, Yardin C, Marquet V, Barnique M, Fiorenza-Gasq M, Marey I, Tournadre D, Doumit R, Nugues F, Barakat TS, Bustos F, Jaillard S, Launay E, Pasquier L, Odent S. Cuinat S, et al. Among authors: bourgon n. J Med Genet. 2024 Aug 29;61(9):824-832. doi: 10.1136/jmg-2024-109854. J Med Genet. 2024. PMID: 38849204 Free PMC article.
Consensus recommendation for prenatal, neonatal and postnatal management of congenital cytomegalovirus infection from the European congenital infection initiative (ECCI).
Leruez-Ville M, Chatzakis C, Lilleri D, Blazquez-Gamero D, Alarcon A, Bourgon N, Foulon I, Fourgeaud J, Gonce A, Jones CE, Klapper P, Krom A, Lazzarotto T, Lyall H, Paixao P, Papaevangelou V, Puchhammer E, Sourvinos G, Vallely P, Ville Y, Vossen A. Leruez-Ville M, et al. Among authors: bourgon n. Lancet Reg Health Eur. 2024 Apr 1;40:100892. doi: 10.1016/j.lanepe.2024.100892. eCollection 2024 May. Lancet Reg Health Eur. 2024. PMID: 38590940 Free PMC article. Review.
Perinatal outcomes between immediate vs deferred selective termination in dichorionic twin pregnancies with fetal congenital anomalies: a French multicenter study.
Soussan S, Egloff C, Peyronnet V, Winer N, Weingertner AS, Rault E, Fuchs F, Quibel T, Bourgon N, Vivanti AJ, Rosenblatt J, Ponzio-Klijanienko A, Dap M, Mandelbrot L, Picone O; ISG study group. Soussan S, et al. Among authors: bourgon n. Am J Obstet Gynecol MFM. 2024 Jun;6(6):101363. doi: 10.1016/j.ajogmf.2024.101363. Epub 2024 Apr 2. Am J Obstet Gynecol MFM. 2024. PMID: 38574858
Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct.
Nicolle R, Boutaud L, Loeuillet L, Talhi N, Grotto S, Bourgon N, Feresin A, Coussement A, Barrois M, Beaujard MP, Rambaud T, Razavi F, Attié-Bitach T. Nicolle R, et al. Among authors: bourgon n. Eur J Hum Genet. 2024 May;32(5):545-549. doi: 10.1038/s41431-024-01558-2. Epub 2024 Feb 13. Eur J Hum Genet. 2024. PMID: 38351293
Stable isotopes show Homo sapiens dispersed into cold steppes ~45,000 years ago at Ilsenhöhle in Ranis, Germany.
Pederzani S, Britton K, Trost M, Fewlass H, Bourgon N, McCormack J, Jaouen K, Dietl H, Döhle HJ, Kirchner A, Lauer T, Le Corre M, McPherron SP, Meller H, Mylopotamitaki D, Orschiedt J, Rougier H, Ruebens K, Schüler T, Sinet-Mathiot V, Smith GM, Talamo S, Tütken T, Welker F, Zavala EI, Weiss M, Hublin JJ. Pederzani S, et al. Among authors: bourgon n. Nat Ecol Evol. 2024 Mar;8(3):578-588. doi: 10.1038/s41559-023-02318-z. Epub 2024 Jan 31. Nat Ecol Evol. 2024. PMID: 38297139 Free PMC article. Review.
41 results