Patsalis PC - Search Results

1

Patsalis PC, Kousoulidou L, Sismani C, Männik K, Kurg A. Patsalis PC, et al. 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.

2

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. 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

3

Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH.

Kousoulidou L, Parkel S, Zilina O, Palta P, Puusepp H, Remm M, Turner G, Boyle J, van Bokhoven H, de Brouwer A, Van Esch H, Froyen G, Ropers HH, Chelly J, Moraine C, Gecz J, Kurg A, Patsalis PC. Kousoulidou L, et al. Among authors: patsalis pc. Eur J Med Genet. 2007 Nov-Dec;50(6):399-410. doi: 10.1016/j.ejmg.2007.09.001. Epub 2007 Sep 29. Eur J Med Genet. 2007. PMID: 17980689

4

Array-MAPH: a methodology for the detection of locus copy-number changes in complex genomes.

Kousoulidou L, Männik K, Sismani C, Zilina O, Parkel S, Puusepp H, Tõnisson N, Palta P, Remm M, Kurg A, Patsalis PC. Kousoulidou L, et al. Among authors: patsalis pc. Nat Protoc. 2008;3(5):849-65. doi: 10.1038/nprot.2008.49. Nat Protoc. 2008. PMID: 18451793

5

Multiplex Amplifiable Probe Hybridization (MAPH) methodology as an alternative to comparative genomic hybridization (CGH).

Kousoulidou L, Sismani C, Patsalis PC. Kousoulidou L, et al. Among authors: patsalis pc. Methods Mol Biol. 2010;653:47-71. doi: 10.1007/978-1-60761-759-4_4. Methods Mol Biol. 2010. PMID: 20721737 Review.

6

9 Mb familial duplication in chromosome band Xp22.2-22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features.

Sismani C, Anastasiadou V, Kousoulidou L, Parkel S, Koumbaris G, Zilina O, Bashiardes S, Spanou E, Kurg A, Patsalis PC. Sismani C, et al. Among authors: patsalis pc. Eur J Med Genet. 2011 Sep-Oct;54(5):e510-5. doi: 10.1016/j.ejmg.2011.05.006. Epub 2011 Jun 17. Eur J Med Genet. 2011. PMID: 21684358

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: patsalis pc. 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

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. Among authors: patsalis pc. Eur J Hum Genet. 2001 Jul;9(7):527-32. doi: 10.1038/sj.ejhg.5200670. Eur J Hum Genet. 2001. PMID: 11464244

9

Fluorescence in situ hybridization characterization of apparently balanced translocation reveals cryptic complex chromosomal rearrangements with unexpected level of complexity.

Patsalis PC, Evangelidou P, Charalambous S, Sismani C. Patsalis PC, et al. Eur J Hum Genet. 2004 Aug;12(8):647-53. doi: 10.1038/sj.ejhg.5201211. Eur J Hum Genet. 2004. PMID: 15162125

10

Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y-chromosome instability.

Patsalis PC, Skordis N, Sismani C, Kousoulidou L, Koumbaris G, Eftychi C, Stavrides G, Ioulianos A, Kitsiou-Tzeli S, Galla-Voumvouraki A, Kosmaidou Z, Hadjiathanasiou CG, McElreavey K. Patsalis PC, et al. Am J Med Genet A. 2005 Jun 1;135(2):145-9. doi: 10.1002/ajmg.a.30712. Am J Med Genet A. 2005. PMID: 15880425

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