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59 results

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Page 1
Inherited metabolic disorders in Cyprus.
Georgiou T, Petrou PP, Malekkou A, Ioannou I, Gavatha M, Skordis N, Nicolaidou P, Savvidou I, Athanasiou E, Ourani S, Papamichael E, Vogazianos M, Dionysiou M, Mavrikiou G, Grafakou O, Tanteles GA, Anastasiadou V, Drousiotou A. Georgiou T, et al. Among authors: anastasiadou v. Mol Genet Metab Rep. 2024 Apr 23;39:101083. doi: 10.1016/j.ymgmr.2024.101083. eCollection 2024 Jun. Mol Genet Metab Rep. 2024. PMID: 38694234 Free PMC article.
Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome.
Hendricks LAJ, Hoogerbrugge N, Mensenkamp AR, Brunet J, Lleuger-Pujol R, Høberg-Vetti H, Tveit Haavind M, Innella G, Turchetti D, Aretz S, Spier I, Tischkowitz M, Jahn A, Links TP, Olderode-Berends MJW, Blatnik A, Leter EM, Evans DG, Woodward ER, Steinke-Lange V, Anastasiadou VC, Colas C, Villy MC, Benusiglio PR, Gerasimenko A, Barili V, Branchaud M, Houdayer C, Tesi B, Yazicioglu MO, van der Post RS, Schuurs-Hoeijmakers JHM; PTEN Study Group; Vos JR. Hendricks LAJ, et al. Among authors: anastasiadou vc. J Natl Cancer Inst. 2023 Jan 10;115(1):93-103. doi: 10.1093/jnci/djac188. J Natl Cancer Inst. 2023. PMID: 36171661 Free article.
Lifestyle Factors and Breast Cancer in Females with PTEN Hamartoma Tumor Syndrome (PHTS).
Hendricks LAJ, Verbeek KCJ, Schuurs-Hoeijmakers JHM, Mensenkamp AR, Brems H, de Putter R, Anastasiadou VC, Villy MC, Jahn A, Steinke-Lange V, Baldassarri M, Irmejs A, de Jong MM, Links TP, Leter EM, Bosch DGM, Høberg-Vetti H, Tveit Haavind M, Jørgensen K, Mæhle L, Blatnik A, Brunet J, Darder E, Tham E, Hoogerbrugge N, Vos JR. Hendricks LAJ, et al. Among authors: anastasiadou vc. Cancers (Basel). 2024 Feb 27;16(5):953. doi: 10.3390/cancers16050953. Cancers (Basel). 2024. PMID: 38473316 Free PMC article.
Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort.
Hendricks LAJ, Hoogerbrugge N, Venselaar H, Aretz S, Spier I, Legius E, Brems H, de Putter R, Claes KBM, Evans DG, Woodward ER, Genuardi M, Brugnoletti F, van Ierland Y, Dijke K, Tham E, Tesi B, Schuurs-Hoeijmakers JHM, Branchaud M, Salvador H, Jahn A, Schnaiter S, Anastasiadou VC, Brunet J, Oliveira C, Roht L, Blatnik A, Irmejs A; PTEN Study Group; Mensenkamp AR, Vos JR. Hendricks LAJ, et al. Among authors: anastasiadou vc. Eur J Med Genet. 2022 Dec;65(12):104632. doi: 10.1016/j.ejmg.2022.104632. Epub 2022 Oct 18. Eur J Med Genet. 2022. PMID: 36270489 Free article.
Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies.
Hadjipanteli A, Theodosiou A, Papaevripidou I, Evangelidou P, Alexandrou A, Salameh N, Kallikas I, Kakoullis K, Frakala S, Oxinou C, Marnerides A, Kousoulidou L, Anastasiadou VC, Sismani C. Hadjipanteli A, et al. Among authors: anastasiadou vc. Genes (Basel). 2024 Jan 18;15(1):119. doi: 10.3390/genes15010119. Genes (Basel). 2024. PMID: 38255008 Free PMC article.
GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing.
Malekkou A, Theodosiou A, Alexandrou A, Papaevripidou I, Sismani C, Jacobs EH, Ruijter GJG, Anastasiadou V, Ourani S, Athanasiou E, Drousiotou A, Grafakou O, Petrou PP. Malekkou A, et al. Among authors: anastasiadou v. Mol Genet Metab Rep. 2023 Aug 7;36:100997. doi: 10.1016/j.ymgmr.2023.100997. eCollection 2023 Sep. Mol Genet Metab Rep. 2023. PMID: 37600231 Free PMC article.
A case series of Cypriot patients with CblC defect: Clinical, biochemical and molecular characteristics.
Georgiou T, Grafakou O, Malekkou A, Athanasiou E, Ioannou I, Choleva V, Dionysiou M, Mavrikiou G, Demetriadou A, Anastasiadou V, Drousiotou A, Petrou PP. Georgiou T, et al. Among authors: anastasiadou v. Mol Genet Metab Rep. 2024 Nov 9;41:101158. doi: 10.1016/j.ymgmr.2024.101158. eCollection 2024 Dec. Mol Genet Metab Rep. 2024. PMID: 39584041 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: anastasiadou v. 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
59 results