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Descriptive epidemiology of 30,223 histopathologically confirmed meningiomas in France: 2006-2015.
Depond CC, Zouaoui S, Darlix A, Rigau V, Mathieu-Daudé H, Bauchet F, Khettab M, Trétarre B, Figarella-Branger D, Taillandier L, Boetto J, Pallud J, Zemmoura I, Roche PH, Bauchet L; French Brain Tumour DataBase (FBTDB) Participants, Investigators with the participation of the Société française de neurochirurgie (SFNC); Club de neuro-oncologie de la société française de neurochirurgie, Société française de neuropathologie (SFNP); Association des neuro-oncologues d’expression française (ANOCEF). Depond CC, et al. Acta Neurochir (Wien). 2024 May 14;166(1):214. doi: 10.1007/s00701-024-06093-z. Acta Neurochir (Wien). 2024. PMID: 38740641
mTOR Pathway Somatic Pathogenic Variants in Focal Malformations of Cortical Development: Novel Variants, Topographic Mapping, and Clinical Outcomes.
Krochmalnek E, Accogli A, St-Onge J, Addour-Boudrahem N, Prakash G, Kim SH, Brunette-Clement T, Alhajaj G, Mougharbel L, Bruneau E, Myers KA, Dubeau F, Karamchandani J, Farmer JP, Atkinson J, Hall J, Chantal Poulin C, Rosenblatt B, Lafond-Lapalme J, Weil A, Fallet-Bianco C, Albrecht S, Sonenberg N, Riviere JB, Dudley RW, Srour M. Krochmalnek E, et al. Among authors: fallet bianco c. Neurol Genet. 2023 Oct 26;9(6):e200103. doi: 10.1212/NXG.0000000000200103. eCollection 2023 Dec. Neurol Genet. 2023. PMID: 37900581 Free PMC article.
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
Laquerriere A, Jaber D, Abiusi E, Maluenda J, Mejlachowicz D, Vivanti A, Dieterich K, Stoeva R, Quevarec L, Nolent F, Biancalana V, Latour P, Sternberg D, Capri Y, Verloes A, Bessieres B, Loeuillet L, Attie-Bitach T, Martinovic J, Blesson S, Petit F, Beneteau C, Whalen S, Marguet F, Bouligand J, Héron D, Viot G, Amiel J, Amram D, Bellesme C, Bucourt M, Faivre L, Jouk PS, Khung S, Sigaudy S, Delezoide AL, Goldenberg A, Jacquemont ML, Lambert L, Layet V, Lyonnet S, Munnich A, Van Maldergem L, Piard J, Guimiot F, Landrieu P, Letard P, Pelluard F, Perrin L, Saint-Frison MH, Topaloglu H, Trestard L, Vincent-Delorme C, Amthor H, Barnerias C, Benachi A, Bieth E, Boucher E, Cormier-Daire V, Delahaye-Duriez A, Desguerre I, Eymard B, Francannet C, Grotto S, Lacombe D, Laffargue F, Legendre M, Martin-Coignard D, Mégarbané A, Mercier S, Nizon M, Rigonnot L, Prieur F, Quélin C, Ranjatoelina-Randrianaivo H, Resta N, Toutain A, Verhelst H, Vincent M, Colin E, Fallet-Bianco C, Granier M, Grigorescu R, Saada J, Gonzales M, Guiochon-Mantel A, Bessereau JL, Tawk M, Gut I, Gitiaux C, Melki J. Laquerriere A, et al. Among authors: fallet bianco c. J Med Genet. 2022 Jun;59(6):559-567. doi: 10.1136/jmedgenet-2020-107595. Epub 2021 Apr 5. J Med Genet. 2022. PMID: 33820833 Free PMC article.
Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations.
Fusaro M, Vincent A, Castelle M, Rosain J, Fournier B, Veiga-da-Cunha M, Kentache T, Serre J, Fallet-Bianco C, Delezoide AL, Renesme L, Picard FM, Lasseaux E, Aladjidi N, Seta N, Cormier-Daire V, Schaftingen EV, Neven B, Moshous D, Blesson S, Picard C. Fusaro M, et al. Among authors: fallet bianco c. J Clin Immunol. 2021 Jul;41(5):958-966. doi: 10.1007/s10875-021-00985-w. Epub 2021 Feb 3. J Clin Immunol. 2021. PMID: 33534079
Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy.
Perrier S, Gauquelin L, Fallet-Bianco C, Dishop MK, Michell-Robinson MA, Tran LT, Guerrero K, Darbelli L, Srour M, Petrecca K, Renaud DL, Saito M, Cohen S, Leiz S, Alhaddad B, Haack TB, Tejera-Martin I, Monton FI, Rodriguez-Espinosa N, Pohl D, Nageswaran S, Grefe A, Glamuzina E, Bernard G. Perrier S, et al. Among authors: fallet bianco c. Neurol Genet. 2020 May 11;6(3):e425. doi: 10.1212/NXG.0000000000000425. eCollection 2020 Jun. Neurol Genet. 2020. PMID: 32582862 Free PMC article.
Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder.
Tessarech M, Gorce M, Boussion F, Bault JP, Triau S, Charif M, Khiaty S, Delorme B, Guichet A, Ziegler A, Bris C, Laquerrière A, Fallet-Bianco C, Jacquette A, Salhi H, Héron D, Reynier P, Procaccio V, Bonneau D, Colin E. Tessarech M, et al. Among authors: fallet bianco c. Am J Med Genet A. 2020 Mar;182(3):565-569. doi: 10.1002/ajmg.a.61384. Epub 2019 Dec 3. Am J Med Genet A. 2020. PMID: 31793730
107 results