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71 results

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Page 1
Exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly and short stature: a new syndrome?
Isidor B, Le Meur G, Conti C, Caldagues E, Lainey E, Launay E, Leclair MD, Le Francois T, Pichon O, Boisseau P, Migraine A, Keren B, Le Caignec C, Crow YJ, David A. Isidor B, et al. Among authors: lainey e. Am J Med Genet A. 2013 Aug;161A(8):1829-32. doi: 10.1002/ajmg.a.36021. Epub 2013 Jul 3. Am J Med Genet A. 2013. PMID: 23824919
Haematological features of telomere biology disorders diagnosed in adulthood: A French nationwide study of 127 patients.
Maillet F, Galimard JE, Borie R, Lainey E, Larcher L, Passet M, Plessier A, Leblanc T, Terriou L, Lebon D, Alcazer V, Cathebras P, Loschi M, Wadih AC, Marcais A, Marceau-Renaut A, Couque N, Lioure B, Soulier J, Ba I, Socié G, Peffault de Latour R, Kannengiesser C, Sicre de Fontbrune F. Maillet F, et al. Among authors: lainey e. Br J Haematol. 2024 Nov;205(5):1835-1847. doi: 10.1111/bjh.19767. Epub 2024 Sep 15. Br J Haematol. 2024. PMID: 39279213
Liver disease in germline mutations of telomere-related genes: Prevalence, clinical, radiological, pathological features, outcome, and risk factors.
Sidali S, Borie R, Sicre de Fontbrune F, El Husseini K, Rautou PE, Lainey E, Goria O, Crestani B, Cadranel J, Cottin V, Bunel V, Dumortier J, Jacquemin E, Reboux N, Hirschi S, Bourdin A, Meszaros M, Dharancy S, Hilaire S, Mallet V, Reynaud-Gaubert M, Terriou L, Gottrand F, Abou Chahla W, Khan JE, Carrier P, Saliba F, Rubbia-Brandt L, Aubert JD, Elkrief L, de Lédinghen V, Abergel A, Olivier T, Houssel P, Jouneau S, Wemeau L, Bergeron A, Leblanc T, Ollivier-Hourmand I, Nguyen Khac E, Morisse-Pradier H, Ba I, Boileau C, Roudot-Thoraval F, Vilgrain V, Bureau C, Nunes H, Naccache JM, Durand F, Francoz C, Roulot D, Valla D, Paradis V, Kannengiesser C, Plessier A. Sidali S, et al. Among authors: lainey e. Hepatology. 2024 Jun 1;79(6):1365-1380. doi: 10.1097/HEP.0000000000000667. Epub 2023 Nov 6. Hepatology. 2024. PMID: 37934624
CD36 cell surface expression as a surrogate marker to identify ABL/JAK-class kinase fusions in pediatric BCP-ALL.
Strullu M, Caye-Eude A, Robert E, Renard JM, Chaye A, Galimand J, Fenneteau O, Arfeuille C, Cuccuini W, Theron A, Thouvenin S, Paillard C, Petit A, Rohrlich PS, Cavé H, Baruchel A, Lainey E. Strullu M, et al. Among authors: lainey e. Leukemia. 2024 Oct 17. doi: 10.1038/s41375-024-02421-5. Online ahead of print. Leukemia. 2024. PMID: 39420220
Alemtuzumab-based conditioning regimen before hematopoietic stem cell transplantation in patients with short telomere syndromes: a retrospective study of the SFGM-TC.
Hussein-Agha R, Kannengiesser C, Lainey E, Marcais A, Srour M, Sterin A, Buchbinder N, Borie R, Plessier A, Socié G, Peffault de Latour R, Sicre de Fontbrune F. Hussein-Agha R, et al. Among authors: lainey e. Bone Marrow Transplant. 2024 Oct;59(10):1428-1432. doi: 10.1038/s41409-024-02381-5. Epub 2024 Jul 30. Bone Marrow Transplant. 2024. PMID: 39080469
Relevance of Howell-Jolly body counts for measuring spleen function in sickle cell disease.
Pourdieu C, El Hoss S, Le Roux E, Pages J, Koehl B, Missud F, Holvoet L, Ithier G, Benkerrou M, Haouari Z, Da Costa L, El Nemer W, Laurance S, Aronovicz YC, Le Van Kim C, Fenneteau O, Lainey E, Brousse V. Pourdieu C, et al. Among authors: lainey e. Am J Hematol. 2023 May;98(5):E110-E112. doi: 10.1002/ajh.26879. Epub 2023 Feb 27. Am J Hematol. 2023. PMID: 36794434 Free article. No abstract available.
Success of donor-derived CAR-T cells after failure of autologous CD19 CAR-T cells (tisagenlecleucel) in B-cell acute lymphoblastic leukaemia.
Dourthe ME, Yakouben K, David A, Thouvenin S, Chaillou D, Caillat-Zucman S, Cuffel A, Tardy C, Lainey E, Caye-Eude A, Arfeuille C, Delaugerre C, Chaix-Baudier ML, Naudin J, Auvin S, Bergaoui K, Merlat-Guitard AI, De Jorna R, Mebarki M, Dalle JH, Baruchel A. Dourthe ME, et al. Among authors: lainey e. Br J Haematol. 2024 Jul;205(1):373-377. doi: 10.1111/bjh.19524. Epub 2024 May 12. Br J Haematol. 2024. PMID: 38735758 No abstract available.
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies.
Valence S, Cochet E, Rougeot C, Garel C, Chantot-Bastaraud S, Lainey E, Afenjar A, Barthez MA, Bednarek N, Doummar D, Faivre L, Goizet C, Haye D, Heron B, Kemlin I, Lacombe D, Milh M, Moutard ML, Riant F, Robin S, Roubertie A, Sarda P, Toutain A, Villard L, Ville D, Billette de Villemeur T, Rodriguez D, Burglen L. Valence S, et al. Among authors: lainey e. Genet Med. 2019 Mar;21(3):553-563. doi: 10.1038/s41436-018-0089-2. Epub 2018 Jul 12. Genet Med. 2019. PMID: 29997391 Free article.
71 results