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Page 1
IRF4 deficiency vulnerates B-cell progeny for leukemogenesis via somatically acquired Jak3 mutations conferring IL-7 hypersensitivity.
Das Gupta D, Paul C, Samel N, Bieringer M, Staudenraus D, Marini F, Raifer H, Menke L, Hansal L, Camara B, Roth E, Daum P, Wanzel M, Mernberger M, Nist A, Bauer UM, Helmprobst F, Buchholz M, Roth K, Bastian L, Hartmann AM, Baldus C, Ikuta K, Neubauer A, Burchert A, Jäck HM, Klein M, Bopp T, Stiewe T, Pagenstecher A, Lohoff M. Das Gupta D, et al. Among authors: menke l. Cell Death Differ. 2022 Nov;29(11):2163-2176. doi: 10.1038/s41418-022-01005-z. Epub 2022 Apr 22. Cell Death Differ. 2022. PMID: 35459909 Free PMC article.
A hyperactive mutant of interferon-regulatory factor 4.
Kang CH, Hartmann E, Menke L, Staudenraus D, Abass EF, Raifer H, Porapu A, Camara B, Brüstle A, Pinkenburg O, Bieringer M, Lohoff M. Kang CH, et al. Among authors: menke l. Eur J Immunol. 2019 May;49(5):812-815. doi: 10.1002/eji.201847530. Epub 2018 Sep 30. Eur J Immunol. 2019. PMID: 30218581 Free article.
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.
Haghshenas S, Bout HJ, Schijns JM, Levy MA, Kerkhof J, Bhai P, McConkey H, Jenkins ZA, Williams EM, Halliday BJ, Huisman SA, Lauffer P, de Waard V, Witteveen L, Banka S, Brady AF, Galazzi E, van Gils J, Hurst ACE, Kaiser FJ, Lacombe D, Martinez-Monseny AF, Fergelot P, Monteiro FP, Parenti I, Persani L, Santos-Simarro F, Simpson BN; MKHK Research Consortium; Alders M, Robertson SP, Sadikovic B, Menke LA. Haghshenas S, et al. Among authors: menke la. HGG Adv. 2024 Oct 10;5(4):100337. doi: 10.1016/j.xhgg.2024.100337. Epub 2024 Sep 21. HGG Adv. 2024. PMID: 39306848 Free PMC article. No abstract available.
Natural history in Malan syndrome: survey of 28 adults and literature review.
Huynh TN, Delagrammatikas CG, Chiriatti L, Panfili A, Ventarola K, Menke LA, Tartaglia M, Huisman SA, Priolo M. Huynh TN, et al. Among authors: menke la. Orphanet J Rare Dis. 2024 Jul 29;19(1):282. doi: 10.1186/s13023-024-03288-6. Orphanet J Rare Dis. 2024. PMID: 39075508 Free PMC article. Review.
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.
van der Laan L, Lauffer P, Rooney K, Silva A, Haghshenas S, Relator R, Levy MA, Trajkova S, Huisman SA, Bijlsma EK, Kleefstra T, van Bon BW, Baysal Ö, Zweier C, Palomares-Bralo M, Fischer J, Szakszon K, Faivre L, Piton A, Mesman S, Hochstenbach R, Elting MW, van Hagen JM, Plomp AS, Mannens MMAM, Alders M, van Haelst MM, Ferrero GB, Brusco A, Henneman P, Sweetser DA, Sadikovic B, Vitobello A, Menke LA. van der Laan L, et al. Among authors: menke la. HGG Adv. 2024 Jul 18;5(3):100289. doi: 10.1016/j.xhgg.2024.100289. Epub 2024 Apr 2. HGG Adv. 2024. PMID: 38571311 Free PMC article.
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.
Haghshenas S, Bout HJ, Schijns JM, Levy MA, Kerkhof J, Bhai P, McConkey H, Jenkins ZA, Williams EM, Halliday BJ, Huisman SA, Lauffer P, de Waard V, Witteveen L, Banka S, Brady AF, Galazzi E, van Gils J, Hurst ACE, Kaiser FJ, Lacombe D, Martinez-Monseny AF, Fergelot P, Monteiro FP, Parenti I, Persani L, Santos-Simarro F, Simpson BN; MKHK Research Consortium; Alders M, Robertson SP, Sadikovic B, Menke LA. Haghshenas S, et al. Among authors: menke la. HGG Adv. 2024 Jul 18;5(3):100287. doi: 10.1016/j.xhgg.2024.100287. Epub 2024 Mar 29. HGG Adv. 2024. PMID: 38553851 Free PMC article.
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
Lacombe D, Bloch-Zupan A, Bredrup C, Cooper EB, Houge SD, García-Miñaúr S, Kayserili H, Larizza L, Lopez Gonzalez V, Menke LA, Milani D, Saettini F, Stevens CA, Tooke L, Van der Zee JA, Van Genderen MM, Van-Gils J, Waite J, Adrien JL, Bartsch O, Bitoun P, Bouts AHM, Cueto-González AM, Dominguez-Garrido E, Duijkers FA, Fergelot P, Halstead E, Huisman SA, Meossi C, Mullins J, Nikkel SM, Oliver C, Prada E, Rei A, Riddle I, Rodriguez-Fonseca C, Rodríguez Pena R, Russell J, Saba A, Santos-Simarro F, Simpson BN, Smith DF, Stevens MF, Szakszon K, Taupiac E, Totaro N, Valenzuena Palafoll I, Van Der Kaay DCM, Van Wijk MP, Vyshka K, Wiley S, Hennekam RC. Lacombe D, et al. Among authors: menke la. J Med Genet. 2024 May 21;61(6):503-519. doi: 10.1136/jmg-2023-109438. J Med Genet. 2024. PMID: 38471765 Free PMC article. Review.
Physical fitness in children with Marfan and Loeys-Dietz syndrome: associations between cardiovascular parameters, systemic manifestations, fatigue, and pain.
Warnink-Kavelaars J, de Koning LE, van der Hulst AE, Buizer AI, Poissonnier N, Wijninga LE, Menke LA, Mosquera LM, Rombaut L, Engelbert RHH. Warnink-Kavelaars J, et al. Among authors: menke la. Eur J Pediatr. 2024 May;183(5):2421-2429. doi: 10.1007/s00431-024-05456-z. Epub 2024 Mar 11. Eur J Pediatr. 2024. PMID: 38466415 Free PMC article.
66 results