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Page 1
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
Peluso F, Caraffi SG, Contrò G, Valeri L, Napoli M, Carboni G, Seth A, Zuntini R, Coccia E, Astrea G, Bisgaard AM, Ivanovski I, Maitz S, Brischoux-Boucher E, Carter MT, Dentici ML, Devriendt K, Bellini M, Digilio MC, Doja A, Dyment DA, Farholt S, Ferreira CR, Wolfe LA, Gahl WA, Gnazzo M, Goel H, Grønborg SW, Hammer T, Iughetti L, Kleefstra T, Koolen DA, Lepri FR, Lemire G, Louro P, McCullagh G, Madeo SF, Milone A, Milone R, Nielsen JEK, Novelli A, Ockeloen CW, Pascarella R, Pippucci T, Ricca I, Robertson SP, Sawyer S, Falkenberg Smeland M, Stegmann S, Stumpel CT, Goel A, Taylor JM, Barbuti D, Soresina A, Bedeschi MF, Battini R, Cavalli A, Fusco C, Iascone M, Van Maldergem L, Venkateswaran S, Zuffardi O, Vergano S, Garavelli L, Bayat A. Peluso F, et al. Among authors: stegmann s. J Med Genet. 2023 Nov 27;60(12):1224-1234. doi: 10.1136/jmg-2023-109141. J Med Genet. 2023. PMID: 37586838 Free PMC article. Review.
Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway.
Delanne J, Lecat M, Blackburn PR, Klee EW, Stumpel CTRM, Stegmann S, Stevens SJC, Nava C, Heron D, Keren B, Mahida S, Naidu S, Babovic-Vuksanovic D, Herkert JC, Torring PM, Kibæk M, De Bie I, Pfundt R, Hendriks YMC, Ousager LB, Bend R, Warren H, Skinner SA, Lyons MJ, Pöe C, Chevarin M, Jouan T, Garde A, Thomas Q, Kuentz P, Tisserant E, Duffourd Y, Philippe C, Faivre L, Thauvin-Robinet C. Delanne J, et al. Among authors: stegmann s. Eur J Med Genet. 2023 Jan;66(1):104670. doi: 10.1016/j.ejmg.2022.104670. Epub 2022 Nov 19. Eur J Med Genet. 2023. PMID: 36414205 Review.
All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience.
Faas BHW, Westra D, de Munnik SA, van Rij M, Marcelis C, Joosten S, Krapels I, Vernimmen V, Heijligers M, Willemsen MH, de Leeuw N, Rinne T, Pfundt R, Smeekens SP, Stegmann SPA, Macville M, Sikkel E, Coumans A, Wijnberger L, Derks I, van Lent-Albrechts J, Hofste T, Timmermans R, van den End J, Stevens SJC, Feenstra I. Faas BHW, et al. Among authors: stegmann spa. Prenat Diagn. 2023 Apr;43(4):527-543. doi: 10.1002/pd.6314. Epub 2023 Feb 5. Prenat Diagn. 2023. PMID: 36647814
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder.
Blackburn PR, Ebstein F, Hsieh TC, Motta M, Radio FC, Herkert JC, Rinne T, Thiffault I, Rapp M, Alders M, Maas S, Gerard B, Smol T, Vincent-Delorme C, Cogné B, Isidor B, Vincent M, Bachmann-Gagescu R, Rauch A, Joset P, Ferrero GB, Ciolfi A, Husson T, Guerrot AM, Bacino C, Macmurdo C, Thompson SS, Rosenfeld JA, Faivre L, Mau-Them FT, Deb W, Vignard V, Agrawal PB, Madden JA, Goldenberg A, Lecoquierre F, Zech M, Prokisch H, Necpál J, Jech R, Winkelmann J, Koprušáková MT, Konstantopoulou V, Younce JR, Shinawi M, Mighton C, Fung C, Morel C, Ellis JL, DiTroia S, Barth M, Bonneau D, Krapels I, Stegmann S, van der Schoot V, Brunet T, Bußmann C, Mignot C, Courtin T, Ravelli C, Keren B, Ziegler A, Hasadsri L, Pichurin PN, Klee EW, Grand K, Sanchez-Lara PA, Krüger E, Bézieau S, Klinkhammer H, Krawitz PM, Eichler EE, Tartaglia M, Küry S, Wang T. Blackburn PR, et al. Among authors: stegmann s. medRxiv [Preprint]. 2023 Jun 16:2023.06.13.23290941. doi: 10.1101/2023.06.13.23290941. medRxiv. 2023. PMID: 37398376 Free PMC article. Preprint.
A Phase 2A Trial of the Safety and Tolerability of Increased Dose Rifampicin and Adjunctive Linezolid, With or Without Aspirin, for Human Immunodeficiency Virus-Associated Tuberculous Meningitis: The LASER-TBM Trial.
Davis AG, Wasserman S, Stek C, Maxebengula M, Jason Liang C, Stegmann S, Koekemoer S, Jackson A, Kadernani Y, Bremer M, Daroowala R, Aziz S, Goliath R, Lai Sai L, Sihoyiya T, Denti P, Lai RPJ, Crede T, Naude J, Szymanski P, Vallie Y, Banderker IA, Moosa MS, Raubenheimer P, Candy S, Offiah C, Wahl G, Vorster I, Maartens G, Black J, Meintjes G, Wilkinson RJ. Davis AG, et al. Among authors: stegmann s. Clin Infect Dis. 2023 Apr 17;76(8):1412-1422. doi: 10.1093/cid/ciac932. Clin Infect Dis. 2023. PMID: 36482216 Free PMC article. Clinical Trial.
Regulatory Programs of B-cell Activation and Germinal Center Reaction Allow B-ALL Escape from CD19 CAR T-cell Therapy.
Im NG, Guillaumet-Adkins A, Wal M, Rogers AJ, Frede J, Havig CC, Yang J, Anand P, Stegmann SK, Waldschmidt JM, Sotudeh N, Niu L, Voisine J, Schweiger MR, Grassberger C, Lohr JG, Knoechel B. Im NG, et al. Among authors: stegmann sk. Cancer Immunol Res. 2022 Sep 1;10(9):1055-1068. doi: 10.1158/2326-6066.CIR-21-0626. Cancer Immunol Res. 2022. PMID: 35759797 Free PMC article.
Death Receptor 6 as a Prognostic Marker in Low-grade Glioma.
Stegmann SK, Kuhl S, Im NG, Diem-Dinh DT, Goertz L, Goldbrunner R, Timmer M. Stegmann SK, et al. Anticancer Res. 2022 Mar;42(3):1237-1245. doi: 10.21873/anticanres.15591. Anticancer Res. 2022. PMID: 35220214
29 results