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Page 1
Real-world prevalence, treatment and survival of "high risk" early breast cancer, with mandatory testing of gBRCA1/2 mutation according to the OlympiA trial inclusion criteria: Data from a population-based registry.
Ladoire S, Mamguem Kamga A, Galland L, Desmoulins I, Mayeur D, Kaderbhai C, Ilie SM, Hennequin A, Jankowski C, Albuisson J, Nambot S, Coutant C, Arnould L, Reda M, Truntzer C, Dabakuyo S. Ladoire S, et al. Among authors: nambot s. Breast. 2024 Dec;78:103789. doi: 10.1016/j.breast.2024.103789. Epub 2024 Aug 28. Breast. 2024. PMID: 39243563 Free PMC article.
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: nambot s. Prenat Diagn. 2024 Sep;44(10):1179-1197. doi: 10.1002/pd.6623. Epub 2024 Aug 13. Prenat Diagn. 2024. PMID: 39138116
Systematic analysis of SCN5A variants associated with inherited cardiac diseases.
Hermida A, Jedraszak G, Ader F, Denjoy I, Fressart V, Maury P, Beyls C, Bloch A, Clerici G, Daire E, Defaye P, Dupin-Deguine D, Garçon L, Klug D, Ginglinger E, Hermida JS, Jesel L, Khraiche D, Kubala M, Lacotte J, Laredo M, Leenhardt A, Le Guillou X, Lesaffre F, Maltret A, Magnin-Poull I, Marijon E, Nambot S, Neyroud N, Ninni S, Palmyre A, Pasquie JL, Proukhnitzky J, Reant P, Richard P, Rollin A, Rooryck C, Sacher F, Schaefer E, Vernier A, Winum PF, Wahbi K, Waintraub X, Waldmann V, Weber S, Zouaghi A, Charron P, Extramiana F, Gandjbakhch E. Hermida A, et al. Among authors: nambot s. Heart Rhythm. 2024 Aug 10:S1547-5271(24)03136-9. doi: 10.1016/j.hrthm.2024.08.018. Online ahead of print. Heart Rhythm. 2024. PMID: 39134129
RNA variant assessment using transactivation and transdifferentiation.
Nicolas-Martinez EC, Robinson O, Pflueger C, Gardner A, Corbett MA, Ritchie T, Kroes T, van Eyk CL, Scheffer IE, Hildebrand MS, Barnier JV, Rousseau V, Genevieve D, Haushalter V, Piton A, Denommé-Pichon AS, Bruel AL, Nambot S, Isidor B, Grigg J, Gonzalez T, Ghedia S, Marchant RG, Bournazos A, Wong WK, Webster RI, Evesson FJ, Jones KJ; PERSYST Investigator Team; Cooper ST, Lister R, Gecz J, Jolly LA. Nicolas-Martinez EC, et al. Among authors: nambot s. Am J Hum Genet. 2024 Aug 8;111(8):1673-1699. doi: 10.1016/j.ajhg.2024.06.018. Epub 2024 Jul 30. Am J Hum Genet. 2024. PMID: 39084224 Free PMC article.
Targeted RNAseq from patients' urinary cells to validate pathogenic noncoding variants in autosomal dominant polycystic kidney disease genes: a proof of concept.
Dorval G, Le Gac G, Morinière V, Ka C, Goursaud C, Knebelmann B, Marijon P, Nambot S, Cagnard N, Nitschké P, Michel-Calemard L, Audrézet MP, Heidet L. Dorval G, et al. Among authors: nambot s. Kidney Int. 2024 Sep;106(3):532-535. doi: 10.1016/j.kint.2024.05.029. Epub 2024 Jun 27. Kidney Int. 2024. PMID: 38944240 No abstract available.
Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriers.
Yang X, Mooij TM, Leslie G, Ficorella L, Andrieu N, Kast K, Singer CF, Jakubowska A, van Gils CH, Tan YY, Engel C, Adank MA, van Asperen CJ, Ausems MGEM, Berthet P; EMBRACE collaborators; Collee MJ, Cook JA, Eason J, Spaendonck-Zwarts KYV, Evans DG, Gómez García EB, Hanson H, Izatt L, Kemp Z, Lalloo F, Lasset C, Lesueur F, Musgrave H, Nambot S, Noguès C, Oosterwijk JC, Stoppa-Lyonnet D, Tischkowitz M, Tripathi V, Wevers MR, Zhao E, van Leeuwen FE, Schmidt MK, Easton DF, Rookus MA, Antoniou AC. Yang X, et al. Among authors: nambot s. J Med Genet. 2024 Jul 19;61(8):803-809. doi: 10.1136/jmg-2024-109943. J Med Genet. 2024. PMID: 38834293 Free PMC article.
Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).
Viora-Dupont E, Robert F, Chassagne A, Pélissier A, Staraci S, Sanlaville D, Edery P, Lesca G, Putoux A, Pons L, Cadenes A, Baurand A, Sawka C, Bertolone G, Spetchian M, Yousfi M, Salvi D, Gautier E, Vitobello A, Denommé-Pichon AS, Bruel AL, Tran Mau-Them F, Faudet A, Keren B, Labalme A, Chatron N, Abel C, Dupuis-Girod S, Poisson A, Buratti J, Mignot C, Afenjar A, Whalen S, Charles P, Heide S, Mouthon L, Moutton S, Sorlin A, Nambot S, Briffaut AS, Asensio ML, Philippe C, Thauvin-Robinet C, Héron D, Rossi M, Meunier-Bellard N, Gargiulo M, Peyron C, Binquet C, Faivre L. Viora-Dupont E, et al. Among authors: nambot s. Eur J Hum Genet. 2024 Sep;32(9):1166-1183. doi: 10.1038/s41431-024-01616-9. Epub 2024 May 27. Eur J Hum Genet. 2024. PMID: 38802530 Free PMC article.
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.
Vos N, Haghshenas S, van der Laan L, Russel PKM, Rooney K, Levy MA, Relator R, Kerkhof J, McConkey H, Maas SM, Vissers LELM, de Vries BBA, Pfundt R, Elting MW, van Hagen JM, Verbeek NE, Jongmans MCJ, Lakeman P, Rumping L, Bosch DGM, Vitobello A, Thauvin-Robinet C, Faivre L, Nambot S, Garde A, Willems M, Genevieve D, Nicolas G, Busa T, Toutain A, Gérard M, Bizaoui V, Isidor B, Merla G, Accadia M, Schwartz CE, Ounap K, Hoffer MJV, Nezarati MM, van den Boogaard MH, Tedder ML, Rogers C, Brusco A, Ferrero GB, Spodenkiewicz M, Sidlow R, Mussa A, Trajkova S, McCann E, Mroczkowski HJ, Jansen S, Donker-Kaat L, Duijkers FAM, Stuurman KE, Mannens MMAM, Alders M, Henneman P, White SM, Sadikovic B, van Haelst MM. Vos N, et al. Among authors: nambot s. Hum Genet. 2024 Jun;143(6):761-773. doi: 10.1007/s00439-024-02679-w. Epub 2024 May 24. Hum Genet. 2024. PMID: 38787418 Free PMC article.
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.
Malbos M, Wakeling E, Gautier T, Boespflug-Tanguy O, Busby L, Taylor-Miller T, Dudoignon B, Bokov P, Govin J, Grisval M, Rega A, Mourot De Rougemont MG, Aubriot-Lorton MH, Darmency V, Bensignor C, Houzel A, Huet F, Denommé-Pichon AS, Delanne J, Tran Mau-Them F, Bruel AL, Safraou H, Nambot S, Garde A, Philippe C, Duffourd Y, Vitobello A, Faivre L, Thauvin-Robinet C. Malbos M, et al. Among authors: nambot s. Clin Genet. 2024 May;105(5):555-560. doi: 10.1111/cge.14485. Epub 2024 Jan 29. Clin Genet. 2024. PMID: 38287449
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.
Sewani S, Azamian MS, Mendelsohn BA, Mau-Them FT, Réda M, Nambot S, Isidor B, van der Smagt JJ, Shen JJ, Shillington A, White L, Elloumi HZ, Baker PR 2nd, Svihovec S, Brown K, Koopman-Keemink Y, Hoffer MJV, Lakeman IMM, Brischoux-Boucher E, Kinali M, Zhao X, Lalani SR, Scott DA. Sewani S, et al. Among authors: nambot s. Am J Med Genet A. 2024 Mar;194(3):e63445. doi: 10.1002/ajmg.a.63445. Epub 2023 Oct 23. Am J Med Genet A. 2024. PMID: 37872713
72 results