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2015 1
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2023 4
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Page 1
Elevated MCHC reveals a Southeast Asian Ovalocytosis.
Souissi M, Daliphard S, Picard V, Lebigot E, Jardin F, Bobée V. Souissi M, et al. Among authors: lebigot e. Am J Hematol. 2024 Feb;99(2):331-332. doi: 10.1002/ajh.27157. Epub 2023 Nov 15. Am J Hematol. 2024. PMID: 37966962 No abstract available.
Author Correction: CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder.
de Thonel A, Ahlskog JK, Daupin K, Dubreuil V, Berthelet J, Chaput C, Pires G, Leonetti C, Abane R, Barris LC, Leray I, Aalto AL, Naceri S, Cordonnier M, Benasolo C, Sanial M, Duchateau A, Vihervaara A, Puustinen MC, Miozzo F, Fergelot P, Lebigot É, Verloes A, Gressens P, Lacombe D, Gobbo J, Garrido C, Westerheide SD, David L, Petitjean M, Taboureau O, Rodrigues-Lima F, Passemard S, Sabéran-Djoneidi D, Nguyen L, Lancaster M, Sistonen L, Mezger V. de Thonel A, et al. Among authors: lebigot e. Nat Commun. 2023 Sep 28;14(1):6067. doi: 10.1038/s41467-023-41869-4. Nat Commun. 2023. PMID: 37770591 Free PMC article. No abstract available.
UQCRC2-related mitochondrial complex III deficiency, about 7 patients.
Bansept C, Gaignard P, Lebigot E, Eyer D, Delplancq G, Hoebeke C, Mazodier K, Ledoyen A, Rouzier C, Fragaki K, Ait-El-Mkadem Saadi S, Philippe C, Bruel AL, Faivre L, Feillet F, Abi Warde MT. Bansept C, et al. Among authors: lebigot e. Mitochondrion. 2023 Jan;68:138-144. doi: 10.1016/j.mito.2022.12.001. Epub 2022 Dec 9. Mitochondrion. 2023. PMID: 36509339
CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder.
de Thonel A, Ahlskog JK, Daupin K, Dubreuil V, Berthelet J, Chaput C, Pires G, Leonetti C, Abane R, Barris LC, Leray I, Aalto AL, Naceri S, Cordonnier M, Benasolo C, Sanial M, Duchateau A, Vihervaara A, Puustinen MC, Miozzo F, Fergelot P, Lebigot É, Verloes A, Gressens P, Lacombe D, Gobbo J, Garrido C, Westerheide SD, David L, Petitjean M, Taboureau O, Rodrigues-Lima F, Passemard S, Sabéran-Djoneidi D, Nguyen L, Lancaster M, Sistonen L, Mezger V. de Thonel A, et al. Among authors: lebigot e. Nat Commun. 2022 Nov 16;13(1):7002. doi: 10.1038/s41467-022-34476-2. Nat Commun. 2022. PMID: 36385105 Free PMC article.
Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies.
François-Heude MC, Lebigot E, Roze E, Warde MTA, Cances C, Damaj L, Espil C, Fluss J, de Lonlay P, Kern I, Lenaers G, Munnich A, Meyer P, Spitz MA, Torre S, Doummar D, Touati G, Leboucq N, Roubertie A. François-Heude MC, et al. Among authors: lebigot e. Eur J Neurol. 2022 Nov;29(11):3229-3242. doi: 10.1111/ene.15515. Epub 2022 Aug 9. Eur J Neurol. 2022. PMID: 36200804 Free article.
FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation.
Montealegre S, Lebigot E, Debruge H, Romero N, Héron B, Gaignard P, Legendre A, Imbard A, Gobin S, Lacène E, Nusbaum P, Hubas A, Desguerre I, Servais A, Laforêt P, van Endert P, Authier FJ, Gitiaux C, de Lonlay P. Montealegre S, et al. Among authors: lebigot e. Neurol Genet. 2022 Jan 19;8(1):e648. doi: 10.1212/NXG.0000000000000648. eCollection 2022 Feb. Neurol Genet. 2022. PMID: 35079622 Free PMC article.
Galaxy Is a Suitable Bioinformatics Platform for the Molecular Diagnosis of Human Genetic Disorders Using High-Throughput Sequencing Data Analysis: Five Years of Experience in a Clinical Laboratory.
Chappell K, Francou B, Habib C, Huby T, Leoni M, Cottin A, Nadal F, Adnet E, Paoli E, Oliveira C, Verstuyft C, Davit-Spraul A, Gaignard P, Lebigot E, Duclos-Vallee JC, Young J, Kamenicky P, Adams D, Echaniz-Laguna A, Gonzales E, Bouvattier C, Linglart A, Picard V, Bergoin E, Jacquemin E, Guiochon-Mantel A, Proust A, Bouligand J. Chappell K, et al. Among authors: lebigot e. Clin Chem. 2022 Feb 1;68(2):313-321. doi: 10.1093/clinchem/hvab220. Clin Chem. 2022. PMID: 34871369
21 results