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Use of minigene assays as a useful tool to confirm the pathogenic role of intronic variations of the ANK1 gene: Report of two cases of hereditary spherocytosis.
Lunati-Rozie A, Janin A, Faubert E, Nony S, Renoux C, Carcao MD, Fanen P, Funalot B, Mansour-Hendili L, Joly P. Lunati-Rozie A, et al. Among authors: mansour hendili l. Br J Haematol. 2023 May;201(4):e46-e49. doi: 10.1111/bjh.18760. Epub 2023 Mar 16. Br J Haematol. 2023. PMID: 36928866 No abstract available.
Exome sequencing for diagnosis of congenital hemolytic anemia.
Mansour-Hendili L, Aissat A, Badaoui B, Sakka M, Gameiro C, Ortonne V, Wagner-Ballon O, Pissard S, Picard V, Ghazal K, Bahuau M, Guitton C, Mansour Z, Duplan M, Petit A, Costedoat-Chalumeau N, Michel M, Bartolucci P, Moutereau S, Funalot B, Galactéros F. Mansour-Hendili L, et al. Orphanet J Rare Dis. 2020 Jul 8;15(1):180. doi: 10.1186/s13023-020-01425-5. Orphanet J Rare Dis. 2020. PMID: 32641076 Free PMC article.
VPS4A mutation in syndromic congenital hemolytic anemia without obvious signs of dyserythropoiesis.
Lunati A, Petit A, Lapillonne H, Gameiro C, Saillour V, Garel C, Doummar D, Qebibo L, Aissat A, Fanen P, Bartolucci P, Galactéros F, Funalot B, Burglen L, Mansour-Hendili L. Lunati A, et al. Among authors: mansour hendili l. Am J Hematol. 2021 Apr 1;96(4):E121-E123. doi: 10.1002/ajh.26099. Epub 2021 Feb 12. Am J Hematol. 2021. PMID: 33460484 Free article. No abstract available.
Multiple thrombosis in a patient with Gardos channelopathy and a new KCNN4 mutation.
Mansour-Hendili L, Egée S, Monedero-Alonso D, Bouyer G, Godeau B, Badaoui B, Lunati A, Noizat C, Aissat A, Kiger L, Mekki C, Picard V, Moutereau S, Fanen P, Bartolucci P, Garçon L, Galactéros F, Funalot B. Mansour-Hendili L, et al. Am J Hematol. 2021 Sep 1;96(9):E318-E321. doi: 10.1002/ajh.26245. Epub 2021 Jun 2. Am J Hematol. 2021. PMID: 34004026 Free article. No abstract available.
Acquired spherocytosis due to somatic ANK1 mutations as a manifestation of clonal hematopoiesis in elderly patients.
Mansour-Hendili L, Flamarion E, Michel M, Morbieu C, Gameiro C, Sloma I, Badaoui B, Darnige L, Camard M, Lunati-Rozie A, Aissat A, Tarfi S, Friedrich C, Picard V, Garçon L, Abermil N, Kaltenbach S, Radford-Weiss I, Kosmider O, Fanen P, Bartolucci P, Godeau B, Galactéros F, Funalot B. Mansour-Hendili L, et al. Am J Hematol. 2022 Aug;97(8):E285-E288. doi: 10.1002/ajh.26593. Epub 2022 May 20. Am J Hematol. 2022. PMID: 35560067 Free article. No abstract available.
Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis.
Delamare M, Le Roy A, Pacault M, Schmitt L, Garrec C, Maaziz N, Myllykoski M, Rimbert A, Karaghiannis V, Aral B, Catherwood M, Airaud F, Mansour-Hendili L, Hoogewijs D, Peroni E, Idriss S, Lesieur V, Caillaud A, Si-Tayeb K, Chariau C, Gaignerie A, Rab M, Haferlach T, Meggendorfer M, Bézieau S, Benetti A, Casadevall N, Hirsch P, Rose C, Wemeau M, Galacteros F, Cassinat B, Bellosillo B, Bento C, Van Wijk R, Petrides PE, Randi ML, McMullin MF, Koivunen P, Girodon F, Gardie B; ECYT-3 consortium. Delamare M, et al. Among authors: mansour hendili l. Haematologica. 2023 Nov 1;108(11):3068-3085. doi: 10.3324/haematol.2023.282913. Haematologica. 2023. PMID: 37317877 Free PMC article.
Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis.
Karaghiannis V, Maric D, Garrec C, Maaziz N, Buffet A, Schmitt L, Antunes V, Airaud F, Aral B, Le Roy A, Corbineau S, Mansour-Hendili L, Lesieur V, Rimbert A, Laporte F, Delamare M, Rab M, Bézieau S, Cassinat B, Galacteros F, Gimenez-Roqueplo AP, Burnichon N, Cario H, Van Wijk R, Bento C, Girodon F, Hoogewijs D, Gardie B. Karaghiannis V, et al. Among authors: mansour hendili l. Haematologica. 2023 Jun 1;108(6):1652-1666. doi: 10.3324/haematol.2022.281698. Haematologica. 2023. PMID: 36700397 Free PMC article.
Rapid Gardos Hereditary Xerocytosis Diagnosis in 8 Families Using Reticulocyte Indices.
Picard V, Guitton C, Mansour-Hendili L, Jondeau B, Bendélac L, Denguir M, Demagny J, Proulle V, Galactéros F, Garçon L. Picard V, et al. Among authors: mansour hendili l. Front Physiol. 2021 Jan 14;11:602109. doi: 10.3389/fphys.2020.602109. eCollection 2020. Front Physiol. 2021. PMID: 33519508 Free PMC article.
20 results