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Page 1
Genetic counselling legislation and practice in cancer in EU Member States.
McCrary JM, Van Valckenborgh E, Poirel HA, de Putter R, van Rooij J, Horgan D, Dierks ML, Antonova O, Brunet J, Chirita-Emandi A, Colas C, Dalmas M, Ehrencrona H, Grima C, Janavičius R, Klink B, Koczok K, Krajc M, Lace B, Leitsalu L, Mistrik M, Paneque M, Primorac D, Roetzer KM, Ronez J, Slámová L, Spanou E, Stamatopoulos K, Stoklosa T, Strang-Karlsson S, Szakszon K, Szczałuba K, Turner J, van Dooren MF, van Zelst-Stams WAG, Vassallo LM, Wadt KAW, Žigman T, Ripperger T, Genuardi M, Van den Bulcke M, Bergmann AK. McCrary JM, et al. Among authors: bergmann ak. Eur J Public Health. 2024 Aug 1;34(4):666-675. doi: 10.1093/eurpub/ckae093. Eur J Public Health. 2024. PMID: 38905592 Free PMC article.
An artificial intelligence-assisted clinical framework to facilitate diagnostics and translational discovery in hematologic neoplasia.
Tang M, Antić Ž, Fardzadeh P, Pietzsch S, Schröder C, Eberhardt A, van Bömmel A, Escherich G, Hofmann W, Horstmann MA, Illig T, McCrary JM, Lentes J, Metzler M, Nejdl W, Schlegelberger B, Schrappe M, Zimmermann M, Miarka-Walczyk K, Pastorczak A, Cario G, Renard BY, Stanulla M, Bergmann AK. Tang M, et al. Among authors: bergmann ak. EBioMedicine. 2024 Jun;104:105171. doi: 10.1016/j.ebiom.2024.105171. Epub 2024 May 28. EBioMedicine. 2024. PMID: 38810562 Free PMC article.
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.
Szakszon K, Lourenco CM, Callewaert BL, Geneviève D, Rouxel F, Morin D, Denommé-Pichon AS, Vitobello A, Patterson WG, Louie R, Pinto E Vairo F, Klee E, Kaiwar C, Gavrilova RH, Agre KE, Jacquemont S, Khadijé J, Giltay J, van Gassen K, Merő G, Gerkes E, Van Bon BW, Rinne T, Pfundt R, Brunner HG, Caluseriu O, Grasshoff U, Kehrer M, Haack TB, Khelifa MM, Bergmann AK, Cueto-González AM, Martorell AC, Ramachandrappa S, Sawyer LB, Fasel P, Braun D, Isis A, Superti-Furga A, McNiven V, Chitayat D, Ahmed SA, Brennenstuhl H, Schwaibolf EM, Battisti G, Parmentier B, Stevens SJC. Szakszon K, et al. Among authors: bergmann ak. J Med Genet. 2024 Jan 19;61(2):132-141. doi: 10.1136/jmg-2022-109030. J Med Genet. 2024. PMID: 37580113
Cytogenetics and genomics in pediatric acute lymphoblastic leukaemia.
Antić Ž, Lentes J, Bergmann AK. Antić Ž, et al. Among authors: bergmann ak. Best Pract Res Clin Haematol. 2023 Dec;36(4):101511. doi: 10.1016/j.beha.2023.101511. Epub 2023 Aug 17. Best Pract Res Clin Haematol. 2023. PMID: 38092485 Review.
Systematic genetic analysis of pediatric patients with autoinflammatory diseases.
Poker Y, von Hardenberg S, Hofmann W, Tang M, Baumann U, Schwerk N, Wetzke M, Lindenthal V, Auber B, Schlegelberger B, Ott H, von Bismarck P, Viemann D, Dressler F, Klemann C, Bergmann AK. Poker Y, et al. Among authors: bergmann ak. Front Genet. 2023 Jan 27;14:1065907. doi: 10.3389/fgene.2023.1065907. eCollection 2023. Front Genet. 2023. PMID: 36777733 Free PMC article.
Deciphering the needs of patients with hereditary breast and ovarian Cancer in the Process of Genetic Counseling to Inform the Development of a Mobile Support App: a qualitative study in Germany.
Ammon N, Reichert C, Kupka T, Oeltze-Jafra S, Bergmann AK, Schlegelberger B, Wolff D, Vajen B. Ammon N, et al. Among authors: bergmann ak. J Community Genet. 2024 Aug 19. doi: 10.1007/s12687-024-00727-6. Online ahead of print. J Community Genet. 2024. PMID: 39158769
The IL-7R antagonist lusvertikimab reduces leukemic burden in xenograft ALL via antibody-dependent cellular phagocytosis.
Lenk L, Baccelli I, Laqua A, Heymann J, Reimer C, Dietterle A, Winterberg D, Mary C, Corallo F, Taurelle J, Narbeburu E, Neyton S, Déramé M, Pengam S, Vogiatzi F, Bornhauser B, Bourquin JP, Raffel S, Dovhan V, Schüler T, Escherich G, den Boer ML, Boer JM, Wessels W, Peipp M, Alten J, Antić Ž, Bergmann AK, Schrappe M, Cario G, Brüggemann M, Poirier N, Schewe DM. Lenk L, et al. Among authors: bergmann ak. Blood. 2024 Jun 27;143(26):2735-2748. doi: 10.1182/blood.2023021088. Blood. 2024. PMID: 38518105 Free PMC article.
Germline variants in patients developing second malignant neoplasms after therapy for pediatric acute lymphoblastic leukemia-a case-control study.
Junk SV, Förster A, Schmidt G, Zimmermann M, Fedders B, Haermeyer B, Bergmann AK, Möricke A, Cario G, Auber B, Schrappe M, Kratz CP, Stanulla M. Junk SV, et al. Among authors: bergmann ak. Leukemia. 2024 Apr;38(4):887-892. doi: 10.1038/s41375-024-02173-2. Epub 2024 Feb 27. Leukemia. 2024. PMID: 38413718 Free PMC article. No abstract available.
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
Nashabat M, Nabavizadeh N, Saraçoğlu HP, Sarıbaş B, Avcı Ş, Börklü E, Beillard E, Yılmaz E, Uygur SE, Kayhan CK, Bosco L, Eren ZB, Steindl K, Richter MF, Bademci G, Rauch A, Fattahi Z, Valentino ML, Connolly AM, Bahr A, Viola L, Bergmann AK, Rocha ME, Peart L, Castro-Rojas DL, Bültmann E, Khan S, Giarrana ML, Teleanu RI, Gonzalez JM, Pini A, Schädlich IS, Vill K, Brugger M, Zuchner S, Pinto A, Donkervoort S, Bivona SA, Riza A; Undiagnosed Diseases Network; Streata I, Gläser D, Baquero-Montoya C, Garcia-Restrepo N, Kotzaeridou U, Brunet T, Epure DA, Bertoli-Avella A, Kariminejad A, Tekin M, von Hardenberg S, Bönnemann CG, Stettner GM, Zanni G, Kayserili H, Oflazer ZP, Escande-Beillard N. Nashabat M, et al. Among authors: bergmann ak. Nat Commun. 2024 Feb 27;15(1):1758. doi: 10.1038/s41467-024-45933-5. Nat Commun. 2024. PMID: 38413582 Free PMC article.
122 results