Patsalis PC - Search Results

1

Mosaic trisomy r(14) associated with epilepsy and mental retardation.

Tzoufi M, Kanioglou C, Dasoula A, Asproudis I, Tsatsoulis A, Sismani C, Patsalis PC, Georgiou I, Syrrou M. Tzoufi M, et al. Among authors: patsalis pc. J Child Neurol. 2007 Jul;22(7):869-73. doi: 10.1177/0883073807304196. J Child Neurol. 2007. PMID: 17715281

2

Phenotype-genotype correlation of a patient with a "balanced" translocation 9;15 and cryptic 9q34 duplication and 15q21q25 deletion.

Papadopoulou E, Sismani C, Christodoulou C, Ioannides M, Kalmanti M, Patsalis P. Papadopoulou E, et al. Am J Med Genet A. 2010 Jun;152A(6):1515-22. doi: 10.1002/ajmg.a.33302. Am J Med Genet A. 2010. PMID: 20503328

3

FRAXA and FRAXE prevalence in patients with nonspecific mental retardation in the Hellenic population.

Syrrou M, Georgiou I, Grigoriadou M, Petersen MB, Kitsiou S, Pagoulatos G, Patsalis PC. Syrrou M, et al. Among authors: patsalis pc. Genet Epidemiol. 1998;15(1):103-9. doi: 10.1002/(SICI)1098-2272(1998)15:1<103::AID-GEPI8>3.0.CO;2-8. Genet Epidemiol. 1998. PMID: 9523214 Clinical Trial.

4

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. Among authors: patsalis pc. 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

5

Array-CGH analysis and clinical description of 2q37.3 de novo subtelomeric deletion.

Kitsiou-Tzeli S, Sismani C, Ioannides M, Bashiardes S, Ketoni A, Touliatou V, Kolialexi A, Mavrou A, Kanavakis E, Patsalis PC. Kitsiou-Tzeli S, et al. Among authors: patsalis pc. Eur J Med Genet. 2007 Jan-Feb;50(1):73-8. doi: 10.1016/j.ejmg.2006.09.004. Epub 2006 Oct 11. Eur J Med Genet. 2007. PMID: 17194633

6

21 Mb deletion in chromosome band 13q22.2q32.1 associated with mild/moderate psychomotor retardation, growth hormone insufficiency, short neck, micrognathia, hypotonia, dysplastic ears and other dysmorphic features.

Grigori P, Panayiotou E, Sismani C, Koumbaris G, Ioannides M, Costalos C, Kosmaidou-Aravidou Z, Kousoulidou L, Patsalis PC. Grigori P, et al. Among authors: patsalis pc. Eur J Med Genet. 2011 May-Jun;54(3):365-8. doi: 10.1016/j.ejmg.2011.02.006. Epub 2011 Feb 24. Eur J Med Genet. 2011. PMID: 21354346

7

Distal del(4) (q33) syndrome: detailed clinical presentation and molecular description with array-CGH.

Kitsiou-Tzeli S, Sismani C, Koumbaris G, Ioannides M, Kanavakis E, Kolialexi A, Mavrou A, Touliatou V, Patsalis PC. Kitsiou-Tzeli S, et al. Among authors: patsalis pc. Eur J Med Genet. 2008 Jan-Feb;51(1):61-7. doi: 10.1016/j.ejmg.2007.09.004. Epub 2007 Oct 2. Eur J Med Genet. 2008. PMID: 17998173

8

Evidence for high-risk haplotypes and (CGG)n expansion in fragile X syndrome in the Hellenic population of Greece and Cyprus.

Syrrou M, Patsalis PC, Georgiou I, Hadjimarcou MI, Constantinou-Deltas CD, Pagoulatos G. Syrrou M, et al. Among authors: patsalis pc. Am J Med Genet. 1996 Jul 12;64(1):234-8. doi: 10.1002/(SICI)1096-8628(19960712)64:1<234::AID-AJMG42>3.0.CO;2-L. Am J Med Genet. 1996. PMID: 8826482

9

Variation in the number of FMR1 microsatellite repeats in three subgroups of the Hellenic population.

Syrrou M, Patsalis PC, Georgiou I, Alamanos Y, Pagoulatos G. Syrrou M, et al. Among authors: patsalis pc. Hum Biol. 1998 Jun;70(3):621-9. Hum Biol. 1998. PMID: 9599948

10

Fragile X premutations and (TA)n estrogen receptor polymorphism in women with ovarian dysfunction.

Syrrou M, Georgiou I, Patsalis PC, Bouba I, Adonakis G, Pagoulatos GN. Syrrou M, et al. Among authors: patsalis pc. Am J Med Genet. 1999 May 28;84(3):306-8. Am J Med Genet. 1999. PMID: 10331614

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