Sismani C - Search Results

1

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

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

FMR1 repeat analysis in patients with ovarian dysfunction or failure.

Patsalis PC, Hettinger JA, Sismani C. Patsalis PC, et al. Among authors: sismani c. Am J Med Genet. 1999 Apr 2;83(4):329-30. Am J Med Genet. 1999. PMID: 10208173 No abstract available.

5

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

6

Frequencies of "grey-zone" and premutation-size FMR1 CGG-repeat alleles in patients with developmental disability in Cyprus and Canada.

Patsalis PC, Sismani C, Hettinger JA, Holden JJ, Lawson JS, Chalifoux M, Wing M, Walker M, Leggo J. Patsalis PC, et al. Among authors: sismani c. Am J Med Genet. 1999 May 28;84(3):195-7. Am J Med Genet. 1999. PMID: 10331589 No abstract available.

7

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

8

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.

9

Molecular genetics of Turner syndrome: correlation with clinical phenotype and response to growth hormone therapy.

Tsezou A, Hadjiathanasiou C, Gourgiotis D, Galla A, Kavazarakis E, Pasparaki A, Kapsetaki M, Sismani C, Theodoridis C, Patsalis PC, Moschonas N, Kitsiou S. Tsezou A, et al. Among authors: sismani c. Clin Genet. 1999 Dec;56(6):441-6. doi: 10.1034/j.1399-0004.1999.560606.x. Clin Genet. 1999. PMID: 10665663

10

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

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