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Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans.
Docherty LE, Rezwan FI, Poole RL, Turner CL, Kivuva E, Maher ER, Smithson SF, Hamilton-Shield JP, Patalan M, Gizewska M, Peregud-Pogorzelski J, Beygo J, Buiting K, Horsthemke B, Soellner L, Begemann M, Eggermann T, Baple E, Mansour S, Temple IK, Mackay DJ. Docherty LE, et al. Among authors: gizewska m. Nat Commun. 2015 Sep 1;6:8086. doi: 10.1038/ncomms9086. Nat Commun. 2015. PMID: 26323243 Free PMC article.
Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.
Begemann M, Rezwan FI, Beygo J, Docherty LE, Kolarova J, Schroeder C, Buiting K, Chokkalingam K, Degenhardt F, Wakeling EL, Kleinle S, González Fassrainer D, Oehl-Jaschkowitz B, Turner CLS, Patalan M, Gizewska M, Binder G, Bich Ngoc CT, Chi Dung V, Mehta SG, Baynam G, Hamilton-Shield JP, Aljareh S, Lokulo-Sodipe O, Horton R, Siebert R, Elbracht M, Temple IK, Eggermann T, Mackay DJG. Begemann M, et al. Among authors: gizewska m. J Med Genet. 2018 Jul;55(7):497-504. doi: 10.1136/jmedgenet-2017-105190. Epub 2018 Mar 24. J Med Genet. 2018. PMID: 29574422 Free PMC article.
Patient with Phenylketonuria and Intellectual Disability-Problem Not Always Caused Exclusively by Insufficient Metabolic Control (Coexistence of PKU and Alazami Syndrome).
Patalan M, Leśniak A, Bernatowicz K, Romanowska H, Krzywińska-Zdeb E, Walczak M, Giżewska M. Patalan M, et al. Among authors: gizewska m. Int J Environ Res Public Health. 2022 Feb 24;19(5):2574. doi: 10.3390/ijerph19052574. Int J Environ Res Public Health. 2022. PMID: 35270292 Free PMC article.
Congenital nasolacrimal duct mucocele--a case report.
Brodkiewicz A, Zakowska A, Peregud-Pogorzelski J, Gizewska M, Burak M, Pastuszak-Gabinowska M. Brodkiewicz A, et al. Among authors: gizewska m. Turk J Pediatr. 2010 Mar-Apr;52(2):194-7. Turk J Pediatr. 2010. PMID: 20560259
Incomplete expression of Klippel-Trenaunay syndrome.
Brodkiewicz A, Szychot E, Peregud-Pogorzelski J, Luksza K, Walczak M, Tuziak M, Giżewska M. Brodkiewicz A, et al. Among authors: gizewska m. Med Wieku Rozwoj. 2012 Oct-Dec;16(4):280-3. Med Wieku Rozwoj. 2012. PMID: 23378406
Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.
Cullinane AR, Straatman-Iwanowska A, Seo JK, Ko JS, Song KS, Gizewska M, Gruszfeld D, Gliwicz D, Tuysuz B, Erdemir G, Sougrat R, Wakabayashi Y, Hinds R, Barnicoat A, Mandel H, Chitayat D, Fischler B, Garcia-Cazorla A, Knisely AS, Kelly DA, Maher ER, Gissen P. Cullinane AR, et al. Among authors: gizewska m. Hum Mutat. 2009 Feb;30(2):E330-7. doi: 10.1002/humu.20900. Hum Mutat. 2009. PMID: 18853461 Free PMC article.
Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration.
Giżewska M, Durda K, Winter T, Ostrowska I, Ołtarzewski M, Klein J, Blankenstein O, Romanowska H, Krzywińska-Zdeb E, Patalan MF, Bartkowiak E, Szczerba N, Seiberling S, Birkenfeld B, Nauck M, von Bernuth H, Meisel C, Bernatowska EA, Walczak M, Pac M. Giżewska M, et al. Front Immunol. 2020 Oct 16;11:1948. doi: 10.3389/fimmu.2020.01948. eCollection 2020. Front Immunol. 2020. PMID: 33178177 Free PMC article.
Can untreated PKU patients escape from intellectual disability? A systematic review.
van Vliet D, van Wegberg AMJ, Ahring K, Bik-Multanowski M, Blau N, Bulut FD, Casas K, Didycz B, Djordjevic M, Federico A, Feillet F, Gizewska M, Gramer G, Hertecant JL, Hollak CEM, Jørgensen JV, Karall D, Landau Y, Leuzzi V, Mathisen P, Moseley K, Mungan NÖ, Nardecchia F, Õunap K, Powell KK, Ramachandran R, Rutsch F, Setoodeh A, Stojiljkovic M, Trefz FK, Usurelu N, Wilson C, van Karnebeek CD, Hanley WB, van Spronsen FJ. van Vliet D, et al. Among authors: gizewska m. Orphanet J Rare Dis. 2018 Aug 29;13(1):149. doi: 10.1186/s13023-018-0890-7. Orphanet J Rare Dis. 2018. PMID: 30157945 Free PMC article.
67 results