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1980 1
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2010 3
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2025 7

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47 results

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Page 1
DLG4-related synaptopathy: a new rare brain disorder.
Rodríguez-Palmero A, Boerrigter MM, Gómez-Andrés D, Aldinger KA, Marcos-Alcalde Í, Popp B, Everman DB, Lovgren AK, Arpin S, Bahrambeigi V, Beunders G, Bisgaard AM, Bjerregaard VA, Bruel AL, Challman TD, Cogné B, Coubes C, de Man SA, Denommé-Pichon AS, Dye TJ, Elmslie F, Feuk L, García-Miñaúr S, Gertler T, Giorgio E, Gruchy N, Haack TB, Haldeman-Englert CR, Haukanes BI, Hoyer J, Hurst ACE, Isidor B, Soller MJ, Kushary S, Kvarnung M, Landau YE, Leppig KA, Lindstrand A, Kleinendorst L, MacKenzie A, Mandrile G, Mendelsohn BA, Moghadasi S, Morton JE, Moutton S, Müller AJ, O'Leary M, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Pfundt R, Pode-Shakked B, Rauch A, Repnikova E, Revah-Politi A, Ross MJ, Ruivenkamp CAL, Sarrazin E, Savatt JM, Schlüter A, Schönewolf-Greulich B, Shad Z, Shaw-Smith C, Shieh JT, Shohat M, Spranger S, Thiese H, Mau-Them FT, van Bon B, van de Burgt I, van de Laar IMBH, van Drie E, van Haelst MM, van Ravenswaaij-Arts CM, Verdura E, Vitobello A, Waldmüller S, Whiting S, Zweier C, Prada CE, de Vries BBA, Dobyns WB, Reiter SF, Gómez-Puertas P, Pujol A, Tümer Z. Rodríguez-Palmero A, et al. Among authors: sarrazin e. Genet Med. 2021 May;23(5):888-899. doi: 10.1038/s41436-020-01075-9. Epub 2021 Feb 17. Genet Med. 2021. PMID: 33597769 Free article.
Les journées caribéennes des maladies rares et orphelines 2022.
Bellance R, Antolín Sanféliz I, Duclos S, Guiget-Valard AG, Inamo J, Signaté A, Allard-Saint-Albin O, Cantacouzéne M, Garófalo Gómez N, Sarrazin E. Bellance R, et al. Among authors: sarrazin e. Med Sci (Paris). 2023 Nov;39 Hors série n° 1:67-71. doi: 10.1051/medsci/2023138. Epub 2023 Nov 17. Med Sci (Paris). 2023. PMID: 37975776 Free article. French. No abstract available.
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.
[Bilateral congenital blue sclera: Case report].
Bobelna B, Sarrazin E, Margot H, Merle H. Bobelna B, et al. Among authors: sarrazin e. J Fr Ophtalmol. 2023 Dec;46(10):e372-e373. doi: 10.1016/j.jfo.2023.06.005. Epub 2023 Aug 22. J Fr Ophtalmol. 2023. PMID: 37620201 French. No abstract available.
Developmental and epileptic encephalopathy 56 due to YWHAG variants: 12 new cases and review of the literature.
Amato ME, Balsells S, Martorell L, Alcalá San Martín A, Ansell K, Børresen ML, Johnson H, Korff C, Garcia-Tarodo S, Lefranc J, Denommé-Pichon AS, Sarrazin E, Szabo NZ, Saraiva JM, Wicher D, Goverde A, Bindels-de Heus KGCB, Barakat TS, Ortigoza-Escobar JD. Amato ME, et al. Among authors: sarrazin e. Eur J Paediatr Neurol. 2024 Nov;53:63-72. doi: 10.1016/j.ejpn.2024.10.005. Epub 2024 Oct 9. Eur J Paediatr Neurol. 2024. PMID: 39413657
Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studies.
Angelini C, Bar C, Baudier MP, Fergelot P, Lancelot G, Rooryck C, Germain DP, Jabbour F, Blanchet AS, Cauchie A, Sarrazin E, Bellance R, Lefaucheur JP, Bismuth J, Ranque-Garnier S, Corand V, Coupry I, Goizet C; DOUFABIS Consortium. Angelini C, et al. Among authors: sarrazin e. Eur J Pain. 2025 Jan;29(1):e4708. doi: 10.1002/ejp.4708. Epub 2024 Aug 4. Eur J Pain. 2025. PMID: 39099234 Free PMC article.
Spectrum of Phenotypes in SMA Patients With 4 SMN2 Copies in the French Population: Registre SMA France.
Gerin L, Ropars J, Garcia-Uzquiano R, Gómez-García De la Banda M, Saugier-Veber P, Desguerre I, Salort-Campana E, Espil C, Barnerias C, Laugel V, Cances C, Audic F, Cintas P, Le Goff L, Mallaret M, Nouguès MC, Drunat S, Tard C, Grimaldi L, Quijano-Roy S; R-SMA Study Group (FILNEMUS). Gerin L, et al. Neurol Genet. 2025 Apr 1;11(2):e200222. doi: 10.1212/NXG.0000000000200222. eCollection 2025 Apr. Neurol Genet. 2025. PMID: 40212804 Free PMC article.
47 results