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Page 1
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.
Lecca M, Pehlivan D, Suñer DH, Weiss K, Coste T, Zweier M, Oktay Y, Danial-Farran N, Rosti V, Bonasoni MP, Malara A, Contrò G, Zuntini R, Pollazzon M, Pascarella R, Neri A, Fusco C, Marafi D, Mitani T, Posey JE, Bayramoglu SE, Gezdirici A, Hernandez-Rodriguez J, Cladera EA, Miravet E, Roldan-Busto J, Ruiz MA, Bauzá CV, Ben-Sira L, Sigaudy S, Begemann A, Unger S, Güngör S, Hiz S, Sonmezler E, Zehavi Y, Jerdev M, Balduini A, Zuffardi O, Horvath R, Lochmüller H, Rauch A, Garavelli L, Tournier-Lasserve E, Spiegel R, Lupski JR, Errichiello E. Lecca M, et al. Am J Hum Genet. 2023 Apr 6;110(4):681-690. doi: 10.1016/j.ajhg.2023.03.005. Epub 2023 Mar 29. Am J Hum Genet. 2023. PMID: 36996813 Free PMC article.
An AluYa5 Insertion in the 3'UTR of COL4A1 and Cerebral Small Vessel Disease.
Aloui C, Neumann L, Bergametti F, Sartori E, Herbreteau M, Maillard A, Coste T, Morel H, Hervé D, Chabriat H, Timsit S, Viakhireva I, Denoyer Y, Allibert R, Demurger F, Gollion C, Vermersch P, Marchelli F, Blugeon C, Lemoine S, Tourtier-Bellosta C, Brouazin A, Leutenegger AL, Pipiras E, Tournier-Lasserve E. Aloui C, et al. Among authors: tournier lasserve e. JAMA Netw Open. 2024 Apr 1;7(4):e247034. doi: 10.1001/jamanetworkopen.2024.7034. JAMA Netw Open. 2024. PMID: 38630472 Free PMC article.
Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease.
Pinard A, Ye W, Fraser SM, Rosenfeld JA, Pichurin P, Hickey SE, Guo D, Cecchi AC, Boerio ML, Guey S, Aloui C, Lee K, Kraemer M, Alyemni SO; University of Washington Center for Mendelian Genomics; Bamshad MJ, Nickerson DA, Tournier-Lasserve E, Haider S, Jin SC, Smith ER, Kahle KT, Jan LY, He M, Milewicz DM. Pinard A, et al. Among authors: tournier lasserve e. Brain. 2023 Sep 1;146(9):3616-3623. doi: 10.1093/brain/awad172. Brain. 2023. PMID: 37253099 Free PMC article.
PSAP-Genomic-Regions: A Method Leveraging Population Data to Prioritize Coding and Non-Coding Variants in Whole Genome Sequencing for Rare Disease Diagnosis.
Ogloblinsky MC, Bocher O, Aloui C, Leutenegger AL, Ozisik O, Baudot A, Tournier-Lasserve E, Castillo-Madeen H, Lewinsohn D, Conrad DF, Génin E, Marenne G. Ogloblinsky MC, et al. Among authors: tournier lasserve e. Genet Epidemiol. 2024 Sep 24. doi: 10.1002/gepi.22593. Online ahead of print. Genet Epidemiol. 2024. PMID: 39318036
Age-related loss of Notch3 underlies brain vascular contractility deficiencies, glymphatic dysfunction, and neurodegeneration in mice.
Romay MC, Knutsen RH, Ma F, Mompeón A, Hernandez GE, Salvador J, Mirkov S, Batra A, Sullivan DP, Procissi D, Buchanan S, Kronquist E, Ferrante EA, Muller WA, Walshon J, Steffens A, McCortney K, Horbinski C, Tournier-Lasserve E, Sonabend AM, Sorond FA, Wang MM, Boehm M, Kozel BA, Iruela-Arispe ML. Romay MC, et al. Among authors: tournier lasserve e. J Clin Invest. 2024 Jan 16;134(2):e166134. doi: 10.1172/JCI166134. J Clin Invest. 2024. PMID: 38015629 Free PMC article.
Autosomal recessive systemic microangiopathy associated with FANCL Fanconi anaemia.
Cousyn L, Demeret S, Philippi A, Bergametti F, Villa C, Morbini P, Riant F, Soulier J, Tournier-Lasserve E, Denier C. Cousyn L, et al. Among authors: tournier lasserve e. J Neurol Neurosurg Psychiatry. 2023 Dec 14;95(1):98-100. doi: 10.1136/jnnp-2023-331260. J Neurol Neurosurg Psychiatry. 2023. PMID: 37451692 No abstract available.
Phenotype and imaging features associated with APP duplications.
Grangeon L, Charbonnier C, Zarea A, Rousseau S, Rovelet-Lecrux A, Bendetowicz D, Lemaitre M, Malrain C, Quillard-Muraine M, Cassinari K, Maltete D, Pariente J, Moreaud O, Magnin E, Cretin B, Mackowiak MA, Sillaire AR, Vercelletto M, Dionet E, Felician O, Rod-Olivieri P, Thomas-Antérion C, Godeneche G, Sauvée M, Cartz-Piver L, Le Ber I, Chauvire V, Jonveaux T, Balageas AC, Laquerriere A, Duyckaerts C, Vital A, de Paula AM, Meyronet D, Guyant-Marechal L, Hannequin D, Tournier-Lasserve E, Campion D; CNR-MAJ collaborators; Nicolas G, Wallon D. Grangeon L, et al. Among authors: tournier lasserve e. Alzheimers Res Ther. 2023 May 11;15(1):93. doi: 10.1186/s13195-023-01172-2. Alzheimers Res Ther. 2023. PMID: 37170141 Free PMC article.
258 results