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Page 1
Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome.
Óskarsdóttir S, Boot E, Crowley TB, Loo JCY, Arganbright JM, Armando M, Baylis AL, Breetvelt EJ, Castelein RM, Chadehumbe M, Cielo CM, de Reuver S, Eliez S, Fiksinski AM, Forbes BJ, Gallagher E, Hopkins SE, Jackson OA, Levitz-Katz L, Klingberg G, Lambert MP, Marino B, Mascarenhas MR, Moldenhauer J, Moss EM, Nowakowska BA, Orchanian-Cheff A, Putotto C, Repetto GM, Schindewolf E, Schneider M, Solot CB, Sullivan KE, Swillen A, Unolt M, Van Batavia JP, Vingerhoets C, Vorstman J, Bassett AS, McDonald-McGinn DM. Óskarsdóttir S, et al. Among authors: lambert mp. Genet Med. 2023 Mar;25(3):100338. doi: 10.1016/j.gim.2022.11.006. Epub 2023 Feb 2. Genet Med. 2023. PMID: 36729053 Free article. Review.
22q and two: 22q11.2 deletion syndrome and coexisting conditions.
Cohen JL, Crowley TB, McGinn DE, McDougall C, Unolt M, Lambert MP, Emanuel BS, Zackai EH, McDonald-McGinn DM. Cohen JL, et al. Among authors: lambert mp. Am J Med Genet A. 2018 Oct;176(10):2203-2214. doi: 10.1002/ajmg.a.40494. Epub 2018 Sep 23. Am J Med Genet A. 2018. PMID: 30244528 Free PMC article.
What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia.
Campbell IM, Sheppard SE, Crowley TB, McGinn DE, Bailey A, McGinn MJ, Unolt M, Homans JF, Chen EY, Salmons HI, Gaynor JW, Goldmuntz E, Jackson OA, Katz LE, Mascarenhas MR, Deeney VFX, Castelein RM, Zur KB, Elden L, Kallish S, Kolon TF, Hopkins SE, Chadehumbe MA, Lambert MP, Forbes BJ, Moldenhauer JS, Schindewolf EM, Solot CB, Moss EM, Gur RE, Sullivan KE, Emanuel BS, Zackai EH, McDonald-McGinn DM. Campbell IM, et al. Among authors: lambert mp. Am J Med Genet A. 2018 Oct;176(10):2058-2069. doi: 10.1002/ajmg.a.40637. Am J Med Genet A. 2018. PMID: 30380191 Free PMC article.
Platelet findings in 22q11.2 deletion syndrome correlate with disease manifestations but do not correlate with GPIb surface expression.
Campbell IM, Crowley TB, Jobaliya C, Bailey A, McGinn DE, Gaiser K, Bassett A, Gur RE, Morrow B, Emanuel BS, Franco AT, French D, Zackai EH, McDonald-McGinn DM, Lambert MP. Campbell IM, et al. Among authors: lambert mp. Clin Genet. 2023 Jan;103(1):109-113. doi: 10.1111/cge.14227. Epub 2022 Sep 16. Clin Genet. 2023. PMID: 36075864 Free PMC article.
Emapalumab for the treatment of refractory cytokine release syndrome in pediatric patients.
Schuelke MR, Bassiri H, Behrens EM, Canna S, Croy C, DiNofia A, Gollomp K, Grupp S, Lambert M, Lambrix A, Maude SL, Myers R, Newman H, Petrosa W, Seif A, Sullivan KE, Teachey DT, Diorio C. Schuelke MR, et al. Blood Adv. 2023 Sep 26;7(18):5603-5607. doi: 10.1182/bloodadvances.2023010712. Blood Adv. 2023. PMID: 37721859 Free PMC article. No abstract available.
Patients with common variable immunodeficiency with autoimmune cytopenias exhibit hyperplastic yet inefficient germinal center responses.
Romberg N, Le Coz C, Glauzy S, Schickel JN, Trofa M, Nolan BE, Paessler M, Xu ML, Lambert MP, Lakhani SA, Khokha MK, Jyonouchi S, Heimall J, Takach P, Maglione PJ, Catanzaro J, Hsu FI, Sullivan KE, Cunningham-Rundles C, Meffre E. Romberg N, et al. Among authors: lambert mp. J Allergy Clin Immunol. 2019 Jan;143(1):258-265. doi: 10.1016/j.jaci.2018.06.012. Epub 2018 Jun 20. J Allergy Clin Immunol. 2019. PMID: 29935219 Free PMC article. Clinical Trial.
193 results