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Year Number of Results
2006 1
2007 1
2009 1
2011 4
2012 5
2013 3
2014 8
2015 9
2016 8
2017 6
2018 5
2019 3
2020 11
2021 6
2022 5
2023 2
2024 0

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68 results

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Page 1
Natural history of KBG syndrome in a large European cohort.
Loberti L, Bruno LP, Granata S, Doddato G, Resciniti S, Fava F, Carullo M, Rahikkala E, Jouret G, Menke LA, Lederer D, Vrielynck P, Ryba L, Brunetti-Pierri N, Lasa-Aranzasti A, Cueto-González AM, Trujillano L, Valenzuela I, Tizzano EF, Spinelli AM, Bruno I, Currò A, Stanzial F, Benedicenti F, Lopergolo D, Santorelli FM, Aristidou C, Tanteles GA, Maystadt I, Tkemaladze T, Reimand T, Lokke H, Õunap K, Haanpää MK, Holubová A, Zoubková V, Schwarz M, Žordania R, Muru K, Roht L, Tihveräinen A, Teek R, Thomson U, Atallah I, Superti-Furga A, Buoni S, Canitano R, Scandurra V, Rossetti A, Grosso S, Battini R, Baldassarri M, Mencarelli MA, Rizzo CL, Bruttini M, Mari F, Ariani F, Renieri A, Pinto AM. Loberti L, et al. Among authors: tanteles ga. Hum Mol Genet. 2022 Dec 16;31(24):4131-4142. doi: 10.1093/hmg/ddac167. Hum Mol Genet. 2022. PMID: 35861666 Free PMC article.
Jaccoud's arthropathy in Clericuzio-type poikiloderma with neutropenia.
Parperis K, Letsos K, Loizidou MA, Hadjisavvas A, Tanteles GA. Parperis K, et al. Among authors: tanteles ga. Rheumatology (Oxford). 2020 May 16:keaa236. doi: 10.1093/rheumatology/keaa236. Online ahead of print. Rheumatology (Oxford). 2020. PMID: 32415769 No abstract available.
Pathogenic and Low-Frequency Variants in Children With Central Precocious Puberty.
Neocleous V, Fanis P, Toumba M, Gorka B, Kousiappa I, Tanteles GA, Iasonides M, Nicolaides NC, Christou YP, Michailidou K, Nicolaou S, Papacostas SS, Christoforidis A, Kyriakou A, Vlachakis D, Skordis N, Phylactou LA. Neocleous V, et al. Among authors: tanteles ga. Front Endocrinol (Lausanne). 2021 Sep 24;12:745048. doi: 10.3389/fendo.2021.745048. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34630334 Free PMC article.
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants.
Schwarz N, Seiffert S, Pendziwiat M, Rademacher AV, Brünger T, Hedrich UBS, Augustijn PB, Baier H, Bayat A, Bisulli F, Buono RJ, Bruria BZ, Doyle MG, Guerrini R, Heimer G, Iacomino M, Kearney H, Klein KM, Kousiappa I, Kunz WS, Lerche H, Licchetta L, Lohmann E, Minardi R, McDonald M, Montgomery S, Mulahasanovic L, Oegema R, Ortal B, Papacostas SS, Ragona F, Granata T, Reif PS, Rosenow F, Rothschild A, Scudieri P, Striano P, Tinuper P, Tanteles GA, Vetro A, Zahnert F, Goldberg EM, Zara F, Lal D, May P, Muhle H, Helbig I, Weber Y. Schwarz N, et al. Among authors: tanteles ga. Neurology. 2022 May 17;98(20):e2046-e2059. doi: 10.1212/WNL.0000000000200660. Epub 2022 Mar 21. Neurology. 2022. PMID: 35314505 Free PMC article.
First reported case of Steel syndrome in the European population: A novel homozygous mutation in COL27A1 and review of the literature.
Evie Kritioti, Athina Theodosiou, Nayia Nicolaou, Angelos Alexandrou, Ioannis Papaevripidou, Elisavet Efstathiou, Violetta Christophidou-Anastasiadou, Carolina Sismani, Tanteles GA. Evie Kritioti, et al. Among authors: tanteles ga. Eur J Med Genet. 2020 Jul;63(7):103939. doi: 10.1016/j.ejmg.2020.103939. Epub 2020 Apr 30. Eur J Med Genet. 2020. PMID: 32360765 Free article. Review.
Evidence of digenic inheritance in autoinflammation-associated genes.
Neocleous V, Byrou S, Toumba M, Costi C, Shammas C, Kyriakou C, Christophidou-Anastasiadou V, Tanteles GA, Hadjipanayis A, Phylactou LA. Neocleous V, et al. Among authors: tanteles ga. J Genet. 2016 Dec;95(4):761-766. doi: 10.1007/s12041-016-0691-5. J Genet. 2016. PMID: 27994174 Free article.
Exploring the Genetic Causality of Discordant Phenotypes in Familial Apparently Balanced Translocation Cases Using Whole Exome Sequencing.
Aristidou C, Theodosiou A, Alexandrou A, Papaevripidou I, Evangelidou P, Kosmaidou-Aravidou Z, Behjati F, Christophidou-Anastasiadou V, Tanteles GA, Sismani C. Aristidou C, et al. Among authors: tanteles ga. Genes (Basel). 2022 Dec 27;14(1):82. doi: 10.3390/genes14010082. Genes (Basel). 2022. PMID: 36672823 Free PMC article.
7q11.23 Microduplication: a recognizable phenotype.
Dixit A, McKee S, Mansour S, Mehta SG, Tanteles GA, Anastasiadou V, Patsalis PC, Martin K, McCullough S, Suri M, Sarkar A. Dixit A, et al. Among authors: tanteles ga. Clin Genet. 2013 Feb;83(2):155-61. doi: 10.1111/j.1399-0004.2012.01862.x. Epub 2012 Apr 8. Clin Genet. 2013. PMID: 22369319
68 results