Alexandrou A - Search Results

1

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: alexandrou a. 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.

2

Duplication of exons 3-10 of the HSD17B3 gene: a novel type of genetic defect underlying 17β-HSD-3 deficiency.

Neocleous V, Sismani C, Shammas C, Efstathiou E, Alexandrou A, Ioannides M, Argyrou M, Patsalis PC, Phylactou LA, Skordis N. Neocleous V, et al. Among authors: alexandrou a. Gene. 2012 May 15;499(2):250-5. doi: 10.1016/j.gene.2012.03.031. Epub 2012 Mar 13. Gene. 2012. PMID: 22445608

3

Implementation of high resolution whole genome array CGH in the prenatal clinical setting: advantages, challenges, and review of the literature.

Evangelidou P, Alexandrou A, Moutafi M, Ioannides M, Antoniou P, Koumbaris G, Kallikas I, Velissariou V, Sismani C, Patsalis PC. Evangelidou P, et al. Among authors: alexandrou a. Biomed Res Int. 2013;2013:346762. doi: 10.1155/2013/346762. Epub 2013 Mar 4. Biomed Res Int. 2013. PMID: 23555083 Free PMC article. Review.

4

A prenatally ascertained, maternally inherited 14.8 Mb duplication of chromosomal bands Xq13.2-q21.31 associated with multiple congenital abnormalities in a male fetus.

Sismani C, Donoghue J, Alexandrou A, Karkaletsi M, Christopoulou S, Konstantinidou AE, Livanos P, Patsalis PC, Velissariou V. Sismani C, et al. Among authors: alexandrou a. Gene. 2013 Nov 1;530(1):138-42. doi: 10.1016/j.gene.2013.08.032. Epub 2013 Aug 22. Gene. 2013. PMID: 23973723

5

Partial MEF2C deletion in a Cypriot patient with severe intellectual disability and a jugular fossa malformation: review of the literature.

Tanteles GA, Alexandrou A, Evangelidou P, Gavatha M, Anastasiadou V, Sismani C. Tanteles GA, et al. Among authors: alexandrou a. Am J Med Genet A. 2015 Mar;167A(3):664-9. doi: 10.1002/ajmg.a.36945. Am J Med Genet A. 2015. PMID: 25691421 Review.

6

A prenatally ascertained de novo terminal deletion of chromosomal bands 1q43q44 associated with multiple congenital abnormalities in a female fetus.

Sismani C, Christopoulou G, Alexandrou A, Evangelidou P, Donoghue J, Konstantinidou AE, Velissariou V. Sismani C, et al. Among authors: alexandrou a. Case Rep Genet. 2015;2015:517678. doi: 10.1155/2015/517678. Epub 2015 Feb 4. Case Rep Genet. 2015. PMID: 25722899 Free PMC article.

7

Identification of an AVP-NPII mutation within the AVP moiety in a family with neurohypophyseal diabetes insipidus: review of the literature.

Koufaris C, Alexandrou A, Sismani C, Skordis N. Koufaris C, et al. Among authors: alexandrou a. Hormones (Athens). 2015 Jul-Sep;14(3):442-6. doi: 10.14310/horm.2002.1604. Hormones (Athens). 2015. PMID: 26233932 Free article. Review.

8

Mild Phenotype in a Patient with a De Novo 6.3 Mb Distal Deletion at 10q26.2q26.3.

Tanteles GA, Nikolaou E, Christou Y, Alexandrou A, Evangelidou P, Christophidou-Anastasiadou V, Sismani C, Papacostas SS. Tanteles GA, et al. Among authors: alexandrou a. Case Rep Genet. 2015;2015:242891. doi: 10.1155/2015/242891. Epub 2015 Jul 29. Case Rep Genet. 2015. PMID: 26294985 Free PMC article.

9

Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas.

Tanteles GA, Nicolaou M, Neocleous V, Shammas C, Loizidou MA, Alexandrou A, Ellina E, Patsia N, Sismani C, Phylactou LA, Christophidou-Anastasiadou V. Tanteles GA, et al. Among authors: alexandrou a. J Genet. 2015 Dec;94(4):749-54. doi: 10.1007/s12041-015-0564-3. J Genet. 2015. PMID: 26690531 Free article. No abstract available.

10

A novel HCFC1 variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder.

Koufaris C, Alexandrou A, Tanteles GA, Anastasiadou V, Sismani C. Koufaris C, et al. Among authors: alexandrou a. Biomed Rep. 2016 Feb;4(2):215-218. doi: 10.3892/br.2015.559. Epub 2015 Dec 18. Biomed Rep. 2016. PMID: 26893841 Free PMC article.

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