Sismani C - Search Results

1

MeDIP combined with in-solution targeted enrichment followed by NGS: Inter-individual methylation variability of fetal-specific biomarkers and their implementation in a proof of concept study for NIPT.

Keravnou A, Ioannides M, Loizides C, Tsangaras K, Achilleos A, Mina P, Kypri E, Hadjidaniel MD, Neofytou M, Kyriacou S, Sismani C, Koumbaris G, Patsalis PC. Keravnou A, et al. Among authors: sismani c. PLoS One. 2018 Jun 11;13(6):e0199010. doi: 10.1371/journal.pone.0199010. eCollection 2018. PLoS One. 2018. PMID: 29889893 Free PMC article.

2

Cytogenetic and fragile X molecular testing of individuals with mental retardation of unknown etiology.

Patsalis PC, Sismani C, Hadjimarcou MI, Rose N, Stylianidou G, Koukoulli R, Anastasiadou V, Deltas CC, Middleton L. Patsalis PC, et al. Among authors: sismani c. Genet Couns. 1997;8(1):1-6. Genet Couns. 1997. PMID: 9101271

3

Detection and incidence of cryptic Y chromosome sequences in Turner syndrome patients.

Patsalis PC, Sismani C, Hadjimarcou MI, Kitsiou-Tzeli S, Tzezou A, Hadjiathanasiou CG, Velissariou V, Lymberatou E, Moschonas NK, Skordis N. Patsalis PC, et al. Among authors: sismani c. Clin Genet. 1998 Apr;53(4):249-57. doi: 10.1111/j.1399-0004.1998.tb02691.x. Clin Genet. 1998. PMID: 9650760

4

Molecular screening of fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic population of Greece and Cyprus: incidence, genetic variation, and stability.

Patsalis PC, Sismani C, Hettinger JA, Boumba I, Georgiou I, Stylianidou G, Anastasiadou V, Koukoulli R, Pagoulatos G, Syrrou M. Patsalis PC, et al. Among authors: sismani c. Am J Med Genet. 1999 May 28;84(3):184-90. Am J Med Genet. 1999. PMID: 10331587

5

Genetic variation and intergenerational FMR1 CGG-repeat stability in 100 unrelated three-generation families from the normal population.

Patsalis PC, Sismani C, Stylianou S, Ioannou P, Joseph G, Manoli P, Holden JJ, Hettinger JA. Patsalis PC, et al. Among authors: sismani c. Am J Med Genet. 1999 May 28;84(3):217-20. Am J Med Genet. 1999. PMID: 10331595

6

Measurement of locus copy number by hybridisation with amplifiable probes.

Armour JA, Sismani C, Patsalis PC, Cross G. Armour JA, et al. Among authors: sismani c. Nucleic Acids Res. 2000 Jan 15;28(2):605-9. doi: 10.1093/nar/28.2.605. Nucleic Acids Res. 2000. PMID: 10606661 Free PMC article.

7

Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay.

Sismani C, Armour JA, Flint J, Girgalli C, Regan R, Patsalis PC. Sismani C, et al. Eur J Hum Genet. 2001 Jul;9(7):527-32. doi: 10.1038/sj.ejhg.5200670. Eur J Hum Genet. 2001. PMID: 11464244

8

A nation-based population screening for azoospermia factor deletions in Greek-Cypriot patients with severe spermatogenic failure and normal fertile controls, using a specific study and experimental design.

Ioulianos A, Sismani C, Fourouclas N, Patroclou T, Sergiou C, Patsalis PC. Ioulianos A, et al. Among authors: sismani c. Int J Androl. 2002 Jun;25(3):153-8. doi: 10.1046/j.1365-2605.2002.00340.x. Int J Androl. 2002. PMID: 12031043

9

Effects of transmission of Y chromosome AZFc deletions.

Patsalis PC, Sismani C, Quintana-Murci L, Taleb-Bekkouche F, Krausz C, McElreavey K. Patsalis PC, et al. Among authors: sismani c. Lancet. 2002 Oct 19;360(9341):1222-4. doi: 10.1016/s0140-6736(02)11248-7. Lancet. 2002. PMID: 12401251

10

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

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