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Page 1
Delayed Diagnosis of Danon Disease in Patients Presenting With Isolated Cardiomyopathy.
Demirdas S, van Slegtenhorst MA, Verdijk RM, Lee M, van den Hout HMP, Wessels MW, Frohn-Mulder IME, Gardeitchik T, van der Ploeg AT, Schaaf GJ. Demirdas S, et al. Among authors: gardeitchik t. Circ Genom Precis Med. 2019 Mar;12(3):e002395. doi: 10.1161/CIRCGEN.118.002395. Circ Genom Precis Med. 2019. PMID: 30919683 No abstract available.
Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern.
Mohamed M, Guillard M, Wortmann SB, Cirak S, Marklova E, Michelakakis H, Korsch E, Adamowicz M, Koletzko B, van Spronsen FJ, Niezen-Koning KE, Matthijs G, Gardeitchik T, Kouwenberg D, Lim BC, Zeevaert R, Wevers RA, Lefeber DJ, Morava E. Mohamed M, et al. Among authors: gardeitchik t. Biochim Biophys Acta. 2011 Jun;1812(6):691-8. doi: 10.1016/j.bbadis.2011.02.011. Epub 2011 Mar 17. Biochim Biophys Acta. 2011. PMID: 21362473 Free article.
Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression.
Achouitar S, Mohamed M, Gardeitchik T, Wortmann SB, Sykut-Cegielska J, Ensenauer R, de Baulny HO, Õunap K, Martinelli D, de Vries M, McFarland R, Kouwenberg D, Theodore M, Wijburg F, Grünewald S, Jaeken J, Wevers RA, Nijtmans L, Elson J, Morava E. Achouitar S, et al. Among authors: gardeitchik t. J Inherit Metab Dis. 2011 Aug;34(4):923-7. doi: 10.1007/s10545-011-9325-5. Epub 2011 May 4. J Inherit Metab Dis. 2011. PMID: 21541726 Free PMC article.
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.
Menke LA; DDD study; Gardeitchik T, Hammond P, Heimdal KR, Houge G, Hufnagel SB, Ji J, Johansson S, Kant SG, Kinning E, Leon EL, Newbury-Ecob R, Paolacci S, Pfundt R, Ragge NK, Rinne T, Ruivenkamp C, Saitta SC, Sun Y, Tartaglia M, Terhal PA, van Essen AJ, Vigeland MD, Xiao B, Hennekam RC. Menke LA, et al. Among authors: gardeitchik t. Am J Med Genet A. 2018 Apr;176(4):862-876. doi: 10.1002/ajmg.a.38626. Epub 2018 Feb 20. Am J Med Genet A. 2018. PMID: 29460469
High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer.
Diets IJ, Waanders E, Ligtenberg MJ, van Bladel DAG, Kamping EJ, Hoogerbrugge PM, Hopman S, Olderode-Berends MJ, Gerkes EH, Koolen DA, Marcelis C, Santen GW, van Belzen MJ, Mordaunt D, McGregor L, Thompson E, Kattamis A, Pastorczak A, Mlynarski W, Ilencikova D, van Silfhout AV, Gardeitchik T, de Bont ES, Loeffen J, Wagner A, Mensenkamp AR, Kuiper RP, Hoogerbrugge N, Jongmans MC. Diets IJ, et al. Among authors: gardeitchik t. Clin Cancer Res. 2018 Apr 1;24(7):1594-1603. doi: 10.1158/1078-0432.CCR-17-1725. Epub 2018 Jan 19. Clin Cancer Res. 2018. PMID: 29351919
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E. Altassan R, et al. Among authors: gardeitchik t. J Inherit Metab Dis. 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. J Inherit Metab Dis. 2019. PMID: 30740725
Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype.
Cannaerts E, Kempers M, Maugeri A, Marcelis C, Gardeitchik T, Richer J, Micha D, Beauchesne L, Timmermans J, Vermeersch P, Meyten N, Chénier S, van de Beek G, Peeters N, Alaerts M, Schepers D, Van Laer L, Verstraeten A, Loeys B. Cannaerts E, et al. Among authors: gardeitchik t. J Med Genet. 2019 Apr;56(4):220-227. doi: 10.1136/jmedgenet-2018-105304. Epub 2018 Jul 2. J Med Genet. 2019. PMID: 29967133
Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging.
Deden C, Neveling K, Zafeiropopoulou D, Gilissen C, Pfundt R, Rinne T, de Leeuw N, Faas B, Gardeitchik T, Sallevelt SCEH, Paulussen A, Stevens SJC, Sikkel E, Elting MW, van Maarle MC, Diderich KEM, Corsten-Janssen N, Lichtenbelt KD, Lachmeijer G, Vissers LELM, Yntema HG, Nelen M, Feenstra I, van Zelst-Stams WAG. Deden C, et al. Among authors: gardeitchik t. Prenat Diagn. 2020 Jul;40(8):972-983. doi: 10.1002/pd.5717. Epub 2020 May 5. Prenat Diagn. 2020. PMID: 32333414 Free PMC article.
41 results