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Year Number of Results
2006 1
2007 2
2008 3
2009 3
2010 1
2011 1
2012 3
2013 4
2014 1
2015 1
2016 1
2017 2
2018 1
2020 3
2021 1
2022 4
2023 7
2024 8

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36 results

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Page 1
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.
Pérez Baca MDR, Jacobs EZ, Vantomme L, Leblanc P, Bogaert E, Dheedene A, De Cock L, Haghshenas S, Foroutan A, Levy MA, Kerkhof J, McConkey H, Chen CA, Batzir NA, Wang X, Palomares M, Carels M; ZFHX3 consortium; Dermaut B, Sadikovic B, Menten B, Yuan B, Vergult S, Callewaert B. Pérez Baca MDR, et al. Am J Hum Genet. 2024 Mar 7;111(3):509-528. doi: 10.1016/j.ajhg.2024.01.013. Epub 2024 Feb 26. Am J Hum Genet. 2024. PMID: 38412861
KIF1A-related disorders in children: A wide spectrum of central and peripheral nervous system involvement.
Nemani T, Steel D, Kaliakatsos M, DeVile C, Ververi A, Scott R, Getov S, Sudhakar S, Male A, Mankad K; Genomics England Research Consortium; Muntoni F, Reilly MM, Kurian MA, Carr L, Munot P. Nemani T, et al. Among authors: ververi a. J Peripher Nerv Syst. 2020 Jun;25(2):117-124. doi: 10.1111/jns.12368. Epub 2020 Mar 6. J Peripher Nerv Syst. 2020. PMID: 32096284
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A; SYNAPS Study Group; Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H. Salpietro V, et al. Among authors: ververi a. Am J Hum Genet. 2024 Jan 4;111(1):200-210. doi: 10.1016/j.ajhg.2023.11.012. Epub 2023 Dec 20. Am J Hum Genet. 2024. PMID: 38118446 Free PMC article.
Restrictive dermopathy due to ZMPSTE24 deficiency.
Ververi A, Babatseva E, Mitsiakos G, Karagiannopoulou G, Malakozi M, Patsatsi A, Diamanti E, Garg A. Ververi A, et al. Clin Dysmorphol. 2023 Apr 1;32(2):92-94. doi: 10.1097/MCD.0000000000000453. Epub 2023 Feb 17. Clin Dysmorphol. 2023. PMID: 36876346 Free PMC article.
Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.
Alharatani R, Ververi A, Beleza-Meireles A, Ji W, Mis E, Patterson QT, Griffin JN, Bhujel N, Chang CA, Dixit A, Konstantino M, Healy C, Hannan S, Neo N, Cash A, Li D, Bhoj E, Zackai EH, Cleaver R, Baralle D, McEntagart M, Newbury-Ecob R, Scott R, Hurst JA, Au PYB, Hosey MT, Khokha M, Marciano DK, Lakhani SA, Liu KJ. Alharatani R, et al. Among authors: ververi a. Hum Mol Genet. 2020 Jul 21;29(11):1900-1921. doi: 10.1093/hmg/ddaa050. Hum Mol Genet. 2020. PMID: 32196547 Free PMC article.
A 17-month-old girl with fetal valproate syndrome and ocular coloboma.
Moutafi M, Ververi A, Papadopoulou-Legbelou K, Gkiourtzis N, Fotoulaki M, Mataftsi A. Moutafi M, et al. Among authors: ververi a. Clin Dysmorphol. 2024 Apr 1;33(2):95-98. doi: 10.1097/MCD.0000000000000494. Epub 2024 Feb 15. Clin Dysmorphol. 2024. PMID: 38411000 No abstract available.
Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome.
Vargiami E, Ververi A, Al-Mutawa H, Gioula G, Gerou S, Rouvalis F, Kambouris M, Zafeiriou DI. Vargiami E, et al. Among authors: ververi a. Case Rep Genet. 2016;2016:3056053. doi: 10.1155/2016/3056053. Epub 2016 Apr 30. Case Rep Genet. 2016. PMID: 27239352 Free PMC article.
Childhood autism and auditory system abnormalities.
Hitoglou M, Ververi A, Antoniadis A, Zafeiriou DI. Hitoglou M, et al. Among authors: ververi a. Pediatr Neurol. 2010 May;42(5):309-14. doi: 10.1016/j.pediatrneurol.2009.10.009. Pediatr Neurol. 2010. PMID: 20399382 Review.
36 results