Sismani C - Search Results

1

Aniridia due to a novel microdeletion affecting PAX6 regulatory enhancers: case report and review of the literature.

Syrimis A, Nicolaou N, Alexandrou A, Papaevripidou I, Nicolaou M, Loukianou E, Christophidou-Anastasiadou V, Malas S, Sismani C, Tanteles GA. Syrimis A, et al. Among authors: sismani c. J Genet. 2018 Jun;97(2):555-562. J Genet. 2018. PMID: 29932076 Free article. Review.

2

A gene for nonsyndromic X-linked mental retardation (MRX77) maps to Xq12-Xq21.33.

Sismani C, Syrrou M, Christodoulou K, Hamel B, Chelly J, Yntema HG, van Bokhoven H, Tzoufi M, Georgiou I, Patsalis PC. Sismani C, et al. Am J Med Genet A. 2003 Sep 15;122A(1):46-50. doi: 10.1002/ajmg.a.20284. Am J Med Genet A. 2003. PMID: 12949971

3

MAPH: from gels to microarrays.

Patsalis PC, Kousoulidou L, Sismani C, Männik K, Kurg A. Patsalis PC, et al. Among authors: sismani c. Eur J Med Genet. 2005 Jul-Sep;48(3):241-9. doi: 10.1016/j.ejmg.2005.04.011. Eur J Med Genet. 2005. PMID: 16179220 Review.

4

Detection of small genomic imbalances using microarray-based multiplex amplifiable probe hybridization.

Patsalis PC, Kousoulidou L, Männik K, Sismani C, Zilina O, Parkel S, Puusepp H, Tõnisson N, Palta P, Remm M, Kurg A. Patsalis PC, et al. Among authors: sismani c. Eur J Hum Genet. 2007 Feb;15(2):162-72. doi: 10.1038/sj.ejhg.5201738. Epub 2006 Nov 22. Eur J Hum Genet. 2007. PMID: 17119536

5

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: sismani c. Gene. 2012 May 15;499(2):250-5. doi: 10.1016/j.gene.2012.03.031. Epub 2012 Mar 13. Gene. 2012. PMID: 22445608

6

A single gene deletion on 4q28.3: PCDH18--a new candidate gene for intellectual disability?

Kasnauskiene J, Ciuladaite Z, Preiksaitiene E, Matulevičienė A, Alexandrou A, Koumbaris G, Sismani C, Pepalytė I, Patsalis PC, Kučinskas V. Kasnauskiene J, et al. Among authors: sismani c. Eur J Med Genet. 2012 Apr;55(4):274-7. doi: 10.1016/j.ejmg.2012.02.010. Epub 2012 Mar 6. Eur J Med Genet. 2012. PMID: 22450339

7

263.4 kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype.

Kousoulidou L, Tanteles G, Moutafi M, Sismani C, Patsalis PC, Anastasiadou V. Kousoulidou L, et al. Among authors: sismani c. Eur J Med Genet. 2013 Jun;56(6):314-8. doi: 10.1016/j.ejmg.2013.03.005. Epub 2013 Mar 23. Eur J Med Genet. 2013. PMID: 23528641

8

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: sismani c. 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.

9

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. Gene. 2013 Nov 1;530(1):138-42. doi: 10.1016/j.gene.2013.08.032. Epub 2013 Aug 22. Gene. 2013. PMID: 23973723

10

Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4-11.

Neocleous V, Yiallouros PK, Tanteles GA, Costi C, Moutafi M, Ioannou P, Patsalis PC, Sismani C, Phylactou LA. Neocleous V, et al. Among authors: sismani c. Case Rep Genet. 2014;2014:613863. doi: 10.1155/2014/613863. Epub 2014 Feb 6. Case Rep Genet. 2014. PMID: 24649380 Free PMC article.

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