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DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.
van der Laan L, Lauffer P, Rooney K, Silva A, Haghshenas S, Relator R, Levy MA, Trajkova S, Huisman SA, Bijlsma EK, Kleefstra T, van Bon BW, Baysal Ö, Zweier C, Palomares-Bralo M, Fischer J, Szakszon K, Faivre L, Piton A, Mesman S, Hochstenbach R, Elting MW, van Hagen JM, Plomp AS, Mannens MMAM, Alders M, van Haelst MM, Ferrero GB, Brusco A, Henneman P, Sweetser DA, Sadikovic B, Vitobello A, Menke LA. van der Laan L, et al. Among authors: szakszon k. HGG Adv. 2024 Apr 2;5(3):100289. doi: 10.1016/j.xhgg.2024.100289. Online ahead of print. HGG Adv. 2024. PMID: 38571311 Free PMC article.
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
Lacombe D, Bloch-Zupan A, Bredrup C, Cooper EB, Houge SD, García-Miñaúr S, Kayserili H, Larizza L, Lopez Gonzalez V, Menke LA, Milani D, Saettini F, Stevens CA, Tooke L, Van der Zee JA, Van Genderen MM, Van-Gils J, Waite J, Adrien JL, Bartsch O, Bitoun P, Bouts AHM, Cueto-González AM, Dominguez-Garrido E, Duijkers FA, Fergelot P, Halstead E, Huisman SA, Meossi C, Mullins J, Nikkel SM, Oliver C, Prada E, Rei A, Riddle I, Rodriguez-Fonseca C, Rodríguez Pena R, Russell J, Saba A, Santos-Simarro F, Simpson BN, Smith DF, Stevens MF, Szakszon K, Taupiac E, Totaro N, Valenzuena Palafoll I, Van Der Kaay DCM, Van Wijk MP, Vyshka K, Wiley S, Hennekam RC. Lacombe D, et al. Among authors: szakszon k. J Med Genet. 2024 Mar 26:jmg-2023-109438. doi: 10.1136/jmg-2023-109438. Online ahead of print. J Med Genet. 2024. PMID: 38471765 Review.
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.
Szakszon K, Lourenco CM, Callewaert BL, Geneviève D, Rouxel F, Morin D, Denommé-Pichon AS, Vitobello A, Patterson WG, Louie R, Pinto E Vairo F, Klee E, Kaiwar C, Gavrilova RH, Agre KE, Jacquemont S, Khadijé J, Giltay J, van Gassen K, Merő G, Gerkes E, Van Bon BW, Rinne T, Pfundt R, Brunner HG, Caluseriu O, Grasshoff U, Kehrer M, Haack TB, Khelifa MM, Bergmann AK, Cueto-González AM, Martorell AC, Ramachandrappa S, Sawyer LB, Fasel P, Braun D, Isis A, Superti-Furga A, McNiven V, Chitayat D, Ahmed SA, Brennenstuhl H, Schwaibolf EM, Battisti G, Parmentier B, Stevens SJC. Szakszon K, et al. J Med Genet. 2024 Jan 19;61(2):132-141. doi: 10.1136/jmg-2022-109030. J Med Genet. 2024. PMID: 37580113
Chromosomal breakage tests in the differential diagnosis of Fanconi anemia and aplastic anemia.
Farkas G, Székely G, Goda V, Kállay KM, Kocsis ZS, Szakszon K, Benyó G, Erdélyi D, Liptai Z, Csordás K, Kertész G, Szegedi I, Kriván G, Takácsi-Nagy Z, Polgár C, Jurányi Z. Farkas G, et al. Among authors: szakszon k. Eur J Haematol. 2023 Aug;111(2):254-262. doi: 10.1111/ejh.13990. Epub 2023 May 16. Eur J Haematol. 2023. PMID: 37194391
Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review.
Kozma K, Bembea M, Jurca CM, Ioana M, Streață I, Şoşoi SŞ, Pirvu A, Petchesi CD, Szilágyi A, Sava CN, Jurca A, Ujfalusi A, Szűcs Z, Szakszon K. Kozma K, et al. Among authors: szakszon k. Genes (Basel). 2021 Oct 23;12(11):1674. doi: 10.3390/genes12111674. Genes (Basel). 2021. PMID: 34828280 Free PMC article. Review.
MED13L-related intellectual disability due to paternal germinal mosaicism.
Bessenyei B, Balogh I, Mokánszki A, Ujfalusi A, Pfundt R, Szakszon K. Bessenyei B, et al. Among authors: szakszon k. Cold Spring Harb Mol Case Stud. 2022 Jan 10;8(1):a006124. doi: 10.1101/mcs.a006124. Print 2022 Jan. Cold Spring Harb Mol Case Stud. 2022. PMID: 34654706 Free PMC article.
38 results