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Page 1
Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.
Kim GJ, Sock E, Buchberger A, Just W, Denzer F, Hoepffner W, German J, Cole T, Mann J, Seguin JH, Zipf W, Costigan C, Schmiady H, Rostásy M, Kramer M, Kaltenbach S, Rösler B, Georg I, Troppmann E, Teichmann AC, Salfelder A, Widholz SA, Wieacker P, Hiort O, Camerino G, Radi O, Wegner M, Arnold HH, Scherer G. Kim GJ, et al. Among authors: kaltenbach s. J Med Genet. 2015 Apr;52(4):240-7. doi: 10.1136/jmedgenet-2014-102864. Epub 2015 Jan 20. J Med Genet. 2015. PMID: 25604083
Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia.
Pérez B, Mechinaud F, Galambrun C, Ben Romdhane N, Isidor B, Philip N, Derain-Court J, Cassinat B, Lachenaud J, Kaltenbach S, Salmon A, Désirée C, Pereira S, Menot ML, Royer N, Fenneteau O, Baruchel A, Chomienne C, Verloes A, Cavé H. Pérez B, et al. Among authors: kaltenbach s. J Med Genet. 2010 Oct;47(10):686-91. doi: 10.1136/jmg.2010.076836. Epub 2010 Jun 12. J Med Genet. 2010. PMID: 20543203 Free article.
A Learnable Prior Improves Inverse Tumor Growth Modeling.
Weidner J, Ezhov I, Balcerak M, Metz MC, Litvinov S, Kaltenbach S, Feiner L, Lux L, Kofler F, Lipkova J, Latz J, Rueckert D, Menze B, Wiestler B. Weidner J, et al. Among authors: kaltenbach s. IEEE Trans Med Imaging. 2024 Nov 8;PP. doi: 10.1109/TMI.2024.3494022. Online ahead of print. IEEE Trans Med Imaging. 2024. PMID: 39514352
Biological Findings and Clinical Outcomes in Patients Treated With R-CHOP Plus High-Dose Methotrexate as First-Line Therapy in Large B-Cell Lymphoma With Testis Involvement.
Liévin R, Burroni B, Balducci E, Palmic P, Decroocq J, Deau-Fischer B, Franchi P, Vignon M, Zerbit J, Cottereau AS, Touzart A, Villarese P, Kaltenbach S, Lhermitte L, Asnafi V, Bouscary D, Willems L. Liévin R, et al. Among authors: kaltenbach s. Eur J Haematol. 2025 Jan;114(1):186-194. doi: 10.1111/ejh.14325. Epub 2024 Oct 12. Eur J Haematol. 2025. PMID: 39394958 Free PMC article.
Identification of primary mediastinal B-cell lymphomas with higher clonal dominance and poorer outcome using 5'RACE.
Camus V, Viennot M, Viailly PJ, Drieux F, Veresezan EL, Bobée V, Rainville V, Bohers E, Sesques P, Haioun C, Durot E, Bayaram M, Rossi C, Martin L, Penther D, Kaltenbach S, Bruneau J, Paillassa J, Tournilhac O, Gower N, Willaume A, Antier C, Renaud L, Lévêque E, Decazes P, Becker S, Tonnelet D, Gaulard P, Tilly H, Molina TJ, Traverse-Glehen A, Donzel M, Ruminy P, Jardin F. Camus V, et al. Among authors: kaltenbach s. Blood Adv. 2025 Jan 14;9(1):101-115. doi: 10.1182/bloodadvances.2024013723. Blood Adv. 2025. PMID: 39293080
Sotorasib for Vascular Malformations Associated with KRAS G12C Mutation.
Fraissenon A, Bayard C, Morin G, Benichi S, Hoguin C, Protic S, Zerbib L, Ladraa S, Firpion M, Blauwblomme T, Naggara O, Duruisseaux M, Delous M, Boitel C, Bringuier PP, Payen L, Legendre C, Kaltenbach S, Balducci E, Villarese P, Asnafi V, Bisdorff A, Guibaud L, Canaud G. Fraissenon A, et al. Among authors: kaltenbach s. N Engl J Med. 2024 Jul 25;391(4):334-342. doi: 10.1056/NEJMoa2309160. Epub 2024 Jul 17. N Engl J Med. 2024. PMID: 39018528
Capillary malformation types are a marker of venous malformation severity.
Boccara O, Mashiah J, Soupre V, Bisdorff-Bresson A, Hadj-Rabia S, Kaltenbach S, Massoni C. Boccara O, et al. Among authors: kaltenbach s. J Eur Acad Dermatol Venereol. 2024 Jul 12. doi: 10.1111/jdv.20242. Online ahead of print. J Eur Acad Dermatol Venereol. 2024. PMID: 38994883 No abstract available.
Targeted therapy for capillary-venous malformations.
Zerbib L, Ladraa S, Fraissenon A, Bayard C, Firpion M, Venot Q, Protic S, Hoguin C, Thomas A, Fraitag S, Duong JP, Kaltenbach S, Balducci E, Lefevre C, Villarese P, Asnafi V, Broissand C, Goudin N, Nemazanyy I, Autret G, Tavitian B, Legendre C, Arzouk N, Minard-Colin V, Chopinet C, Dussiot M, Adams DM, Mirault T, Guibaud L, Isenring P, Canaud G. Zerbib L, et al. Among authors: kaltenbach s. Signal Transduct Target Ther. 2024 Jun 17;9(1):146. doi: 10.1038/s41392-024-01862-9. Signal Transduct Target Ther. 2024. PMID: 38880808 Free PMC article.
75 results