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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. Among authors: mero g. J Med Genet. 2024 Jan 19;61(2):132-141. doi: 10.1136/jmg-2022-109030. J Med Genet. 2024. PMID: 37580113
PRIM1 deficiency causes a distinctive primordial dwarfism syndrome.
Parry DA, Tamayo-Orrego L, Carroll P, Marsh JA, Greene P, Murina O, Uggenti C, Leitch A; Scottish Genomes Partnership; Káposzta R, Merő G, Nagy A, Orlik B, Kovács-Pászthy B, Quigley AJ, Riszter M, Rankin J, Reijns MAM, Szakszon K, Jackson AP; Members of the Scottish Genome Partnership include. Parry DA, et al. Among authors: mero g. Genes Dev. 2020 Nov 1;34(21-22):1520-1533. doi: 10.1101/gad.340190.120. Epub 2020 Oct 15. Genes Dev. 2020. PMID: 33060134 Free PMC article.
[Deletion 15q26 syndrome].
Szakszon K, Ujfalusi A, Balogh E, Mogyorósy G, Felszeghy E, Szilvássy J, Horkay E, Berényi E, Merő G, Knegt AC. Szakszon K, et al. Among authors: mero g. Orv Hetil. 2014 Mar 2;155(9):362-4. doi: 10.1556/OH.2014.29826. Orv Hetil. 2014. PMID: 24566701 Hungarian.
Genetic regulation of glucoraphanin accumulation in Beneforté broccoli.
Traka MH, Saha S, Huseby S, Kopriva S, Walley PG, Barker GC, Moore J, Mero G, van den Bosch F, Constant H, Kelly L, Schepers H, Boddupalli S, Mithen RF. Traka MH, et al. Among authors: mero g. New Phytol. 2013 Jun;198(4):1085-1095. doi: 10.1111/nph.12232. Epub 2013 Apr 8. New Phytol. 2013. PMID: 23560984 Free PMC article.
Moderate hypothermia to treat perinatal asphyxial encephalopathy.
Azzopardi DV, Strohm B, Edwards AD, Dyet L, Halliday HL, Juszczak E, Kapellou O, Levene M, Marlow N, Porter E, Thoresen M, Whitelaw A, Brocklehurst P; TOBY Study Group. Azzopardi DV, et al. N Engl J Med. 2009 Oct 1;361(14):1349-58. doi: 10.1056/NEJMoa0900854. N Engl J Med. 2009. PMID: 19797281 Free article. Clinical Trial.