Zobrazeno 1 - 10
of 164
pro vyhledávání: '"Velissariou V"'
Autor:
Velissariou, V., Patsalis, P.C.
Publikováno v:
In Molecular Diagnostics Edition: Third Edition. 2017:423-443
Duplications of the X chromosome are rare cytogenetic findings, and have been associated with an abnormal phenotype in the male offspring of apparently normal or near normal female carriers. We report on the prenatal diagnosis of a duplication on the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::13194bcd36cef99c1cead6884809381d
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3088620
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3088620
Autor:
Konstantinidou, A.E. Tassoulas, I. Kallipolitis, G. Gasparatos, S. Velissariou, V. Paraskevakou, H.
BACKGROUND: Treacher Collins syndrome is the most common mandibulofacial dysostosis of autosomal dominant or, rarely, recessive inheritance. Affected fetuses may be identified by prenatal ultrasound or diagnosed at autopsy in case of perinatal death
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::bb12f6f2d50a00c1d67f4219046bc531
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3088824
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3088824
Autor:
Christopoulou, G., Tzetis, M., Konstantinidou, A.E., Tsezou, A., Kanavakis, E., Kitsiou-Tzeli, S., Velissariou, V.
Publikováno v:
In European Journal of Medical Genetics January 2012 55(1):75-79
Objective: To reevaluate the efficiency of the 12 differentially methylated regions (DMRs) used in the methylated DNA immunoprecipitation (MeDIP) real-time quantitative polymerase chain reaction (real-time qPCR) based approach, develop an improved ve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::fee7896b291664acf6e88ac74a00c71b
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3128473
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3128473
Ring chromosomes are rare cytogenetic findings and are mostly associated with an abnormal phenotype. We report on the prenatal diagnosis of a ring chromosome 10 in a fetus in which talipes equinovarus was incidentally found during routine obstetric u
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::9e0689521dc09d39bc10e95a73c9168d
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3090579
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3090579
The trials performed worldwide toward noninvasive prenatal diagnosis (NIPD) of Down's syndrome (or trisomy 21) have shown the commercial and medical potential of NIPD compared to the currently used invasive prenatal diagnostic procedures. Extensive i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::47d090606b37d4fb4a79cb15764604f4
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3089119
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3089119
Fibroblast Growth Factor Receptor 3 (FGFR3) related skeletal dysplasias are caused by mutations in the FGFR3 gene that result in increased activation of the receptors causing alterations in the process of endochondral ossification in all long bones,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::f3fe33ef3af4b53fbe1b711c1943b0ab
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3090113
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3090113
BACKGROUND: Genetic skeletal disorders of the fetus and infant are a large group of genetic disorders, comprising the groups formerly assigned as skeletal dysplasias (osteochondrodysplasias), dysostoses, and malformation syndromes with a skeletal com
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::7e59d08e7976f521a57c091370059975
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3090237
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3090237