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Page 1
Clinical, genetic and biochemical signatures of RBP4-related ocular malformations.
Plaisancié J, Martinovic J, Chesneau B, Whalen S, Rodriguez D, Audebert-Bellanger S, Marzin P, Grotto S, Perthus I, Holt RJ, Bax DA, Ragge N, Chassaing N. Plaisancié J, et al. Among authors: perthus i. J Med Genet. 2023 Dec 21;61(1):84-92. doi: 10.1136/jmg-2023-109331. J Med Genet. 2023. PMID: 37586836
10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France.
Messiaen C, Racine C, Khatim A, Soussand L, Odent S, Lacombe D, Manouvrier S, Edery P, Sigaudy S, Geneviève D, Thauvin-Robinet C, Pasquier L, Petit F, Rossi M, Willems M, Attié-Bitach T, Roux-Levy PH, Demougeot L, Slama LB, Landais P; AnDDI-Rares network; Jannot AS, Binquet C, Sandrin A, Verloes A, Faivre L. Messiaen C, et al. Orphanet J Rare Dis. 2021 Aug 4;16(1):345. doi: 10.1186/s13023-021-01957-4. Orphanet J Rare Dis. 2021. PMID: 34348744 Free PMC article.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
Epidemiology of achondroplasia: A population-based study in Europe.
Coi A, Santoro M, Garne E, Pierini A, Addor MC, Alessandri JL, Bergman JEH, Bianchi F, Boban L, Braz P, Cavero-Carbonell C, Gatt M, Haeusler M, Klungsøyr K, Kurinczuk JJ, Lanzoni M, Lelong N, Luyt K, Mokoroa O, Mullaney C, Nelen V, Neville AJ, O'Mahony MT, Perthus I, Rankin J, Rissmann A, Rouget F, Schaub B, Tucker D, Wellesley D, Wisniewska K, Zymak-Zakutnia N, Barišić I. Coi A, et al. Among authors: perthus i. Am J Med Genet A. 2019 Sep;179(9):1791-1798. doi: 10.1002/ajmg.a.61289. Epub 2019 Jul 11. Am J Med Genet A. 2019. PMID: 31294928
Amniotic band syndrome and limb body wall complex in Europe 1980-2019.
Bergman JEH, Barišić I, Addor MC, Braz P, Cavero-Carbonell C, Draper ES, Echevarría-González-de-Garibay LJ, Gatt M, Haeusler M, Khoshnood B, Klungsøyr K, Kurinczuk JJ, Latos-Bielenska A, Luyt K, Martin D, Mullaney C, Nelen V, Neville AJ, O'Mahony MT, Perthus I, Pierini A, Randrianaivo H, Rankin J, Rissmann A, Rouget F, Sayers G, Schaub B, Stevens S, Tucker D, Verellen-Dumoulin C, Wiesel A, Gerkes EH, Perraud A, Loane MA, Wellesley D, de Walle HEK. Bergman JEH, et al. Among authors: perthus i. Am J Med Genet A. 2023 Apr;191(4):995-1006. doi: 10.1002/ajmg.a.63107. Epub 2022 Dec 30. Am J Med Genet A. 2023. PMID: 36584346
Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination.
Masson J, Pebrel-Richard C, Egloff M, Frétigny M, Beaumont M, Uguen K, Rollat-Farnier PA, Diguet F, Perthus I, Le Gudayer G, Haye D, Dupeyron MB, Putoux A, Raskin-Champion F, Till M, Chatron N, Doray B, Bardel C, Vinciguerra C, Sanlaville D, Schluth-Bolard C. Masson J, et al. Among authors: perthus i. Clin Genet. 2023 Apr;103(4):401-412. doi: 10.1111/cge.14291. Epub 2023 Jan 19. Clin Genet. 2023. PMID: 36576162
Surveillance of multiple congenital anomalies; searching for new associations.
Morris JK, Bergman JEH, Barisic I, Wellesley D, Tucker D, Limb E, Addor MC, Cavero-Carbonell C, Matias Dias C, Draper ES, Echevarría-González-de-Garibay LJ, Gatt M, Klungsøyr K, Lelong N, Luyt K, Materna-Kiryluk A, Nelen V, Neville A, Perthus I, Pierini A, Randrianaivo-Ranjatoelina H, Rankin J, Rissmann A, Rouget F, Sayers G, Wertelecki W, Kinsner-Ovaskainen A, Garne E. Morris JK, et al. Among authors: perthus i. Eur J Hum Genet. 2024 Apr;32(4):407-412. doi: 10.1038/s41431-023-01502-w. Epub 2023 Dec 5. Eur J Hum Genet. 2024. PMID: 38052905 Free PMC article. Review.
34 results