Search Results - "Sismani, C"

Clinical and molecular description of the prenatal diagnosis of a fetus with a maternally inherited microduplication 22q11.2 of 2.5Mb by Christopoulou, G., Sismani, C., Sakellariou, M., Saklamaki, M., Athanassiou, V., Velissariou, V.

“…Microduplications of 22q11.2 have been recently characterized as a new genomic duplication syndrome showing an extremely variable phenotype ranging from normal…”
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Clinical and molecular description of the prenatal diagnosis of a fetus with a maternally inherited microduplication 22q11.2 of 2.5 Mb by Christopoulou, G, Sismani, C, Sakellariou, M, Saklamaki, M, Athanassiou, V, Velissariou, V

“…Microduplications of 22q11.2 have been recently characterized as a new genomic duplication syndrome showing an extremely variable phenotype ranging from normal…”
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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 by Sismani, C, Donoghue, J, Alexandrou, A, Karkaletsi, M, Christopoulou, S, Konstantinidou, A E, Livanos, P, Patsalis, P C, Velissariou, V

“…Duplications of the X chromosome are rare cytogenetic findings, and have been associated with an abnormal phenotype in the male offspring of apparently normal…”
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A prenatally ascertained, maternally inherited 14.8Mb duplication of chromosomal bands Xq13.2–q21.31 associated with multiple congenital abnormalities in a male fetus by Sismani, C., Donoghue, J., Alexandrou, A, Karkaletsi, M., Christopoulou, S., Konstantinidou, A.E., Livanos, P., Patsalis, P.C., Velissariou, V.

“…Duplications of the X chromosome are rare cytogenetic findings, and have been associated with an abnormal phenotype in the male offspring of apparently normal…”
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Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X) by Basehore, M.J., Michaelson-Cohen, R., Levy-Lahad, E., Sismani, C., Bird, L.M., Friez, M.J., Walsh, T., Abidi, F., Holloway, L., Skinner, C., McGee, S., Alexandrou, A., Syrrou, M., Patsalis, P.C., Raymond, G., Wang, T., Schwartz, C.E., King, M.-C., Stevenson, R.E.

“…Alpha‐thalassemia intellectual disability, one of the recognizable X‐linked disability syndromes, is characterized by short stature, microcephaly, distinctive…”
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Loss of the Y chromosome PAR2 region and additional rearrangements in two familial cases of satellited Y chromosomes: Cytogenetic and molecular analysis by Velissariou, V, Sismani, C, Christopoulou, S, Kaminopetros, P, Hatzaki, A, Evangelidou, P, Koumbaris, G, Bartsocas, C.S, Stylianidou, G, Skordis, N, Diakoumakos, A, Patsalis, P.C

“…Abstract Two cases of rare structural aberrations of the Y chromosome were detected: a del(Y) (q12) chromosome in a child with mild dysmorphic features,…”
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24. PREIMPLANTATION GENETIC TESTING FOR ANEUPLOIDIES WITH NGS ON MINISEQ. A RELIABLE ALTERNATIVE FOR SMALL LABORATORIES by Papaevripidou, I., Alexandrou, A., Constantinou, E., Theodosiou, A., Evangelidou, P., Sismani, C.

“…The demand for Preimplantation Genetic Testing for aneuploidy (PGT-A) used in IVF, is constantly increasing to improve pregnancy outcomes by transferring…”
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Complete androgen insensitivity syndrome caused by the R855H mutation in the androgen receptor gene by Skordis, Nicos, Lumbroso, Serge, Perikleous, Maria, Sismani, Carolina, Patsalis, Philippos C, Sultan, Charles

“…Complete androgen insensitivity syndrome (CAIS) is characterized by a completely female phenotype in a 46,XY individual and is caused by mutations in the…”
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Molecular genetics of Turner syndrome: correlation with clinical phenotype and response to growth hormone therapy by Tsezou, A, Hadjiathanasiou, Ch, Gourgiotis, D, Galla, A, Kavazarakis, Em, Pasparaki, A, Kapsetaki, M, Sismani, C, Theodoridis, Ch, Patsalis, Pc, Moschonas, N, Kitsiou, S

“…To correlate the origin of the retained X in Turner syndrome with phenotype, pre‐treatment height and response to recombinant human growth hormone (rhGH)…”
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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 by Ioulianos, A., Sismani, C., Fourouclas, N., Patroclou, T., Sergiou, C., Patsalis, P. C.

“…Y chromosome microdeletions in the azoospermia factor (AZF) locus have been associated with spermatogenic failure. The frequency of AZF deletions is estimated…”
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Alpha‐thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation – c. 109C >T (p. R37X ) by Basehore, M.J., Michaelson‐Cohen, R., Levy‐Lahad, E., Sismani, C., Bird, L.M., Friez, M.J., Walsh, T., Abidi, F., Holloway, L., Skinner, C., McGee, S., Alexandrou, A., Syrrou, M., Patsalis, P.C., Raymond, G., Wang, T., Schwartz, C.E., King, M.‐C., Stevenson, R.E.

“…Alpha‐thalassemia intellectual disability, one of the recognizable X‐linked disability syndromes, is characterized by short stature, microcephaly, distinctive…”
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Measurement of locus copy number by hybridisation with amplifiable probes by Armour, J A, Sismani, C, Patsalis, P C, Cross, G

“…Despite its fundamental importance in genome analysis, it is only recently that systematic approaches have been developed to assess copy number at specific…”
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Effects of transmission of Y chromosome AZFc deletions by Patsalis, Philippos C, Sismani, Carolina, Quintana-Murci, Lluis, Taleb-Bekkouche, Fat/ma, Krausz, Csilla, McElreavey, Ken

“…Deletions of specific regions on the Y chromosome cause male infertility. Recent advances in infertility treatment allow Y chromosome deletions to be…”
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Fluorescence in situ hybridization characterization of apparently balanced translocation reveals cryptic complex chromosomal rearrangements with unexpected level of complexity by PATSALIS, Philippos C, EVANGELIDOU, Paola, CHARALAMBOUS, Spyros, SISMANI, Carolina

“…The great majority of apparently balanced translocations are associated with multiple miscarriages and normal phenotype. Several mechanisms have been proposed…”
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Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas by TANTELES, GEORGE A., NICOLAOU, MICHAEL, NEOCLEOUS, VASSOS, SHAMMAS, CHRISTOS, LOIZIDOU, MARIA A., ALEXANDROU, ANGELOS, ELLINA, ELENA, PATSIA, NASIA, SISMANI, CAROLINA, PHYLACTOU, LEONIDAS A., CHRISTOPHIDOU-ANASTASIADOU, VIOLETTA

“…The purpose of this study was to identify mutations in either of the EXT gene loci (EXT1 initially and subsequently EXT2 in those having no EXT1 pathogenic…”
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Cytogenetic and fragile X molecular testing of individuals with mental retardation of unknown etiology by Patsalis, P C, Sismani, C, Hadjimarcou, M I, Rose, N, Stylianidou, G, Koukoulli, R, Anastasiadou, V, Deltas, C C, Middleton, L

“…The aim of this program was to investigate the patients with Mental Retardation Of Unknown Etiology (MROUE), on the island of Cyprus. The MROUE patients were…”
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Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y-chromosome instability by Patsalis, Philippos C, Skordis, Nicos, Sismani, Carolina, Kousoulidou, Ludmila, Koumbaris, George, Eftychi, Christina, Stavrides, George, Ioulianos, Antonis, Kitsiou-Tzeli, Sophia, Galla-Voumvouraki, Angeliki, Kosmaidou, Zoe, Hadjiathanasiou, Charalambos G, McElreavey, Ken

“…A mosaic karyotype consisting of a 45,X cell line and a second cell line containing a normal or an abnormal Y chromosome is relatively common and is associated…”
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Molecular screening of fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic population of Greece and Cyprus: Incidence, genetic variation, and stability by Patsalis, P.C., Sismani, C., Hettinger, J.A., Boumba, I., Georgiou, I., Stylianidou, G., Anastasiadou, V., Koukoulli, R., Pagoulatos, G., Syrrou, M.

“…This study presents the first large, population‐based molecular investigation of the fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic…”
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Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay by Sismani, C, Armour, J A, Flint, J, Girgalli, C, Regan, R, Patsalis, P C

“…Subtelomeric chromosomal abnormalities are emerging as an important cause of human genetic disorders. The scope of this investigation was to screen a selected…”
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Frequencies of "grey-zone" and premutation-size FMR1 CGG-repeat alleles in patients with developmental disability in Cyprus and Canada by Patsalis, Philippos C., Sismani, Carolina, Hettinger, Joe A., Holden, Jeanette J.A., Lawson, J. Stuart, Chalifoux, Maryse, Wing, Maggie, Walker, Melissa, Leggo, Jayne

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