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Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
Lorenzini T, Fliegauf M, Klammer N, Frede N, Proietti M, Bulashevska A, Camacho-Ordonez N, Varjosalo M, Kinnunen M, de Vries E, van der Meer JWM, Ameratunga R, Roifman CM, Schejter YD, Kobbe R, Hautala T, Atschekzei F, Schmidt RE, Schröder C, Stepensky P, Shadur B, Pedroza LA, van der Flier M, Martínez-Gallo M, Gonzalez-Granado LI, Allende LM, Shcherbina A, Kuzmenko N, Zakharova V, Neves JF, Svec P, Fischer U, Ip W, Bartsch O, Barış S, Klein C, Geha R, Chou J, Alosaimi M, Weintraub L, Boztug K, Hirschmugl T, Dos Santos Vilela MM, Holzinger D, Seidl M, Lougaris V, Plebani A, Alsina L, Piquer-Gibert M, Deyà-Martínez A, Slade CA, Aghamohammadi A, Abolhassani H, Hammarström L, Kuismin O, Helminen M, Allen HL, Thaventhiran JE, Freeman AF, Cook M, Bakhtiar S, Christiansen M, Cunningham-Rundles C, Patel NC, Rae W, Niehues T, Brauer N, Syrjänen J, Seppänen MRJ, Burns SO, Tuijnenburg P, Kuijpers TW; NIHR BioResource; Warnatz K, Grimbacher B; NIHR BioResource. Lorenzini T, et al. Among authors: bartsch o. J Allergy Clin Immunol. 2020 Oct;146(4):901-911. doi: 10.1016/j.jaci.2019.11.051. Epub 2020 Apr 9. J Allergy Clin Immunol. 2020. PMID: 32278790 Free PMC article.
Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis.
Boppudi S, Bögershausen N, Hove HB, Percin EF, Aslan D, Dvorsky R, Kayhan G, Li Y, Cursiefen C, Tantcheva-Poor I, Toft PB, Bartsch O, Lissewski C, Wieland I, Jakubiczka S, Wollnik B, Ahmadian MR, Heindl LM, Zenker M. Boppudi S, et al. Among authors: bartsch o. Clin Genet. 2016 Oct;90(4):334-42. doi: 10.1111/cge.12775. Epub 2016 Apr 29. Clin Genet. 2016. PMID: 26970110
Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.
Piard J, Lespinasse J, Vlckova M, Mensah MA, Iurian S, Simandlova M, Malikova M, Bartsch O, Rossi M, Lenoir M, Nugues F, Mundlos S, Kornak U, Stanier P, Sousa SB, Van Maldergem L. Piard J, et al. Among authors: bartsch o. Am J Med Genet A. 2018 Mar;176(3):668-675. doi: 10.1002/ajmg.a.38604. Epub 2018 Jan 17. Am J Med Genet A. 2018. PMID: 29341480 Free PMC article. Review.
Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutation.
Gucev Z, Tasic V, Bogevska I, Laban N, Saveski A, Polenakovic M, Plaseska-Karanfilska D, Komlosi K, Winter J, Schweiger S, Nishimura G, Spranger J, Bartsch O. Gucev Z, et al. Among authors: bartsch o. Eur J Med Genet. 2020 Jan;63(1):103613. doi: 10.1016/j.ejmg.2019.01.003. Epub 2019 Jan 21. Eur J Med Genet. 2020. PMID: 30677517
178 results