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Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
Brain. 2017 Oct 1;140(10):2610-2622. doi: 10.1093/brain/awx203.
Brain. 2017.
PMID: 28969385
Free PMC article.
Co-occurrence of mutations in FOXP1 and PTCH1 in a girl with extreme megalencephaly, callosal dysgenesis and profound intellectual disability.
Zombor M, Kalmár T, Maróti Z, Zimmermann A, Máté A, Bereczki C, Sztriha L.
Zombor M, et al.
J Hum Genet. 2018 Nov;63(11):1189-1193. doi: 10.1038/s10038-018-0508-x. Epub 2018 Sep 4.
J Hum Genet. 2018.
PMID: 30181650
Free article.
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De Novo Interstitial Microdeletion at 1q32.1 in a 10-Year-Old Boy with Developmental Delay and Dysmorphism.
Carter J, Zombor M, Máté A, Sztriha L, Waters JJ.
Carter J, et al. Among authors: zombor m.
Case Rep Genet. 2016;2016:2501741. doi: 10.1155/2016/2501741. Epub 2016 Feb 3.
Case Rep Genet. 2016.
PMID: 26955491
Free PMC article.
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A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature.
Zombor M, Kalmár T, Nagy N, Berényi M, Telcs B, Maróti Z, Brandau O, Sztriha L.
Zombor M, et al.
J Appl Genet. 2019 May;60(2):151-162. doi: 10.1007/s13353-019-00486-y. Epub 2019 Feb 1.
J Appl Genet. 2019.
PMID: 30706430
Review.
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A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia.
Kalmár T, Szakszon K, Maróti Z, Zimmermann A, Máté A, Zombor M, Bereczki C, Sztriha L.
Kalmár T, et al. Among authors: zombor m.
J Pediatr Genet. 2021 Jun;10(2):159-163. doi: 10.1055/s-0040-1712916. Epub 2020 May 28.
J Pediatr Genet. 2021.
PMID: 33996189
Free PMC article.
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Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.
Alby C, Piquand K, Huber C, Megarbané A, Ichkou A, Legendre M, Pelluard F, Encha-Ravazi F, Abi-Tayeh G, Bessières B, El Chehadeh-Djebbar S, Laurent N, Faivre L, Sztriha L, Zombor M, Szabó H, Failler M, Garfa-Traore M, Bole C, Nitschké P, Nizon M, Elkhartoufi N, Clerget-Darpoux F, Munnich A, Lyonnet S, Vekemans M, Saunier S, Cormier-Daire V, Attié-Bitach T, Thomas S.
Alby C, et al. Among authors: zombor m.
Am J Hum Genet. 2015 Aug 6;97(2):311-8. doi: 10.1016/j.ajhg.2015.06.003. Epub 2015 Jul 9.
Am J Hum Genet. 2015.
PMID: 26166481
Free PMC article.
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Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis.
Scarpelli M, Russignan A, Zombor M, Bereczki C, Zappini F, Buono R, Bax BE, Padovani A, Tonin P, Filosto M.
Scarpelli M, et al. Among authors: zombor m.
Case Rep Neurol. 2012 Sep;4(3):248-53. doi: 10.1159/000346260. Epub 2012 Dec 20.
Case Rep Neurol. 2012.
PMID: 23341816
Free PMC article.
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