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106 results

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Page 1
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. Among authors: fanen p. 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.
Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier.
Hinzpeter A, Aissat A, Sondo E, Costa C, Arous N, Gameiro C, Martin N, Tarze A, Weiss L, de Becdelièvre A, Costes B, Goossens M, Galietta LJ, Girodon E, Fanen P. Hinzpeter A, et al. Among authors: fanen p. PLoS Genet. 2010 Oct 7;6(10):e1001153. doi: 10.1371/journal.pgen.1001153. PLoS Genet. 2010. PMID: 20949073 Free PMC article.
A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice.
Costa C, Pruliere-Escabasse V, de Becdelievre A, Gameiro C, Golmard L, Guittard C, Bassinet L, Bienvenu T, Georges MD, Epaud R, Bieth E, Giurgea I, Aissat A, Hinzpeter A, Costes B, Fanen P, Goossens M, Claustres M, Coste A, Girodon E. Costa C, et al. Among authors: fanen p. J Cyst Fibros. 2011 Dec;10(6):479-82. doi: 10.1016/j.jcf.2011.06.011. Epub 2011 Jul 23. J Cyst Fibros. 2011. PMID: 21783433 Free article.
Interstitial lung disease reveals 48,XXYY syndrome in a child.
Gros M, Aissat A, Perez-Martin S, Abou Taam R, Funalot B, Fanen P, Epaud R, de Becdelievre A. Gros M, et al. Among authors: fanen p. Acta Paediatr. 2020 May;109(5):1060-1061. doi: 10.1111/apa.15090. Epub 2019 Dec 4. Acta Paediatr. 2020. PMID: 31721284 No abstract available.
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: fanen p. 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. Among authors: fanen p. 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.
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: fanen p. 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.
[Cardiac amyloidosis: How to recognize them and manage them?].
Bodez D, Galat A, Guellich A, Deux JF, Rosso J, Le Bras F, Funalot B, Fanen P, Benhaiem N, Planté-Bordeneuve V, Dubois-Randé JL, Lellouche N, Guendouz S, Molinier-Frenkel V, Mohty D, Damy T. Bodez D, et al. Among authors: fanen p. Presse Med. 2016 Oct;45(10):845-855. doi: 10.1016/j.lpm.2016.07.001. Epub 2016 Aug 1. Presse Med. 2016. PMID: 27492996 French.
106 results