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Page 1
Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish.
Khatri D, Putoux A, Cologne A, Kaltenbach S, Besson A, Bertiaux E, Guguin J, Fendler A, Dupont MA, Benoit-Pilven C, Qebibo L, Ahmed-Elie S, Audebert-Bellanger S, Blanc P, Rambaud T, Castelle M, Cornen G, Grotto S, Guët A, Guibaud L, Michot C, Odent S, Ruaud L, Sacaze E, Hamel V, Bordonné R, Leutenegger AL, Edery P, Burglen L, Attié-Bitach T, Mazoyer S, Delous M. Khatri D, et al. Among authors: kaltenbach s. Proc Natl Acad Sci U S A. 2023 Feb 28;120(9):e2102569120. doi: 10.1073/pnas.2102569120. Epub 2023 Feb 21. Proc Natl Acad Sci U S A. 2023. PMID: 36802443 Free PMC article.
Large granular lymphocytic leukemia: a treatable form of refractory celiac disease.
Malamut G, Meresse B, Verkarre V, Kaltenbach S, Montcuquet N, Duong Van Huyen JP, Callens C, Lenglet J, Rahmi G, Samaha E, Ranque B, Macintyre E, Radford-Weiss I, Hermine O, Cerf-Bensussan N, Cellier C. Malamut G, et al. Among authors: kaltenbach s. Gastroenterology. 2012 Dec;143(6):1470-1472.e2. doi: 10.1053/j.gastro.2012.08.028. Epub 2012 Aug 23. Gastroenterology. 2012. PMID: 22922421
A G polymorphism in the CRBN gene acts as a biomarker of response to treatment with lenalidomide in low/int-1 risk MDS without del(5q).
Sardnal V, Rouquette A, Kaltenbach S, Bally C, Chesnais V, Leschi C, Ades L, Santini V, Park S, Toma A, Fenaux P, Dreyfus F, Fontenay M, Kosmider O. Sardnal V, et al. Among authors: kaltenbach s. Leukemia. 2013 Jul;27(7):1610-3. doi: 10.1038/leu.2013.59. Epub 2013 Feb 26. Leukemia. 2013. PMID: 23434730 No abstract available.
Activating mutation in the TSLPR gene in B-cell precursor lymphoblastic leukemia.
Chapiro E, Russell L, Lainey E, Kaltenbach S, Ragu C, Della-Valle V, Hanssens K, Macintyre EA, Radford-Weiss I, Delabesse E, Cavé H, Mercher T, Harrison CJ, Nguyen-Khac F, Dubreuil P, Bernard OA. Chapiro E, et al. Among authors: kaltenbach s. Leukemia. 2010 Mar;24(3):642-5. doi: 10.1038/leu.2009.231. Epub 2009 Nov 12. Leukemia. 2010. PMID: 19907440 No abstract available.
Identification of GSX2 and AF10 as NUP98 partner genes in myeloid malignancies.
Soler G, Kaltenbach S, Dobbelstein S, Broccardo C, Radford I, Mozziconacci MJ, Bernard OA, Penard-Lacronique V, Delabesse E, Romana SP. Soler G, et al. Among authors: kaltenbach s. Blood Cancer J. 2013 Jul 12;3(7):e124. doi: 10.1038/bcj.2013.20. Blood Cancer J. 2013. PMID: 23852159 Free PMC article. No abstract available.
NUP98-MLL fusion in human acute myeloblastic leukemia.
Kaltenbach S, Soler G, Barin C, Gervais C, Bernard OA, Penard-Lacronique V, Romana SP. Kaltenbach S, et al. Blood. 2010 Sep 30;116(13):2332-5. doi: 10.1182/blood-2010-04-277806. Epub 2010 Jun 17. Blood. 2010. PMID: 20558618 Free article.
Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K-AKT-mTOR signaling pathway.
Bourgon N, Carmignac V, Sorlin A, Duffourd Y, Philippe C, Thauvin-Robinet C, Guibaud L, Faivre L, Vabres P, Kuentz P; Collaborators. Bourgon N, et al. Ultrasound Obstet Gynecol. 2022 Apr;59(4):532-542. doi: 10.1002/uog.23715. Epub 2022 Mar 10. Ultrasound Obstet Gynecol. 2022. PMID: 34170046 Free article.
PIK3CA gain-of-function mutation in adipose tissue induces metabolic reprogramming with Warburg-like effect and severe endocrine disruption.
Ladraa S, Zerbib L, Bayard C, Fraissenon A, Venot Q, Morin G, Garneau AP, Isnard P, Chapelle C, Hoguin C, Fraitag S, Duong JP, Guibaud L, Besançon A, Kaltenbach S, Villarese P, Asnafi V, Broissand C, Goudin N, Dussiot M, Nemazanyy I, Viel T, Autret G, Cruciani-Guglielmacci C, Denom J, Bruneau J, Tavitian B, Legendre C, Dairou J, Lacorte JM, Levy P, Pende M, Polak M, Canaud G. Ladraa S, et al. Among authors: kaltenbach s. Sci Adv. 2022 Dec 9;8(49):eade7823. doi: 10.1126/sciadv.ade7823. Epub 2022 Dec 9. Sci Adv. 2022. PMID: 36490341 Free PMC article.
Hemifacial myohyperplasia is due to somatic muscular PIK3CA gain-of-function mutations and responds to pharmacological inhibition.
Bayard C, Segna E, Taverne M, Fraissenon A, Hennocq Q, Periou B, Zerbib L, Ladraa S, Chapelle C, Hoguin C, Kaltenbach S, Villarese P, Asnafi V, Broissand C, Nemazanyy I, Autret G, Goudin N, Legendre C, Authier FJ, Viel T, Tavitian B, Gitiaux C, Fraitag S, Duong JP, Delcros C, Sergent B, Picard A, Dussiot M, Guibaud L, Khonsari R, Canaud G. Bayard C, et al. Among authors: kaltenbach s. J Exp Med. 2023 Nov 6;220(11):e20230926. doi: 10.1084/jem.20230926. Epub 2023 Sep 15. J Exp Med. 2023. PMID: 37712948 Free PMC article.
75 results