Sofia Kitsiou‐Tzeli

National and Kapodistrian University of Athens — Greece

Biochemistry, Genetics and Molecular Biology · Life Sciences

17h-index1.1kcitations47works0.02yr avg
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Research Topics

Genomic variations and chromosomal abnormalities(17), Prenatal Screening and Diagnostics(8), Chromosomal and Genetic Variations(6), Congenital heart defects research(6), Genetic Syndromes and Imprinting(5)

Publications47 total

Proliferative and chondrogenic potential of mesenchymal stromal cells from pluripotent and bone marrow cells.
PubMed·2020· 6 cited
Deep‐intronic variants in <i>CNGB3</i> cause achromatopsia by pseudoexon activation
Human Mutation·2019· 36 citedOpen Access
A Female Patient with Xq28 Microduplication Presenting with Myotubular Myopathy, Confirmed with a Custom-Designed X-array
Neuropediatrics·2018· 4 cited
Phenotypic expression of a spectrum of Neurofibromatosis Type 1 (NF1) mutations identified through NGS and MLPA
Journal of the Neurological Sciences·2018· 39 cited
Evaluation of in vitro fertilization outcomes using the FMR1 CGG repeat level and genotypes as a potential marker
Hellenic Journal of Obstetrics and Gynecology·2018Open Access
Author's Reply: Myotonic dystrophy: The occurrence of early-onset cataract
Neurology India·2017
Maternal epigenetics and fetal and neonatal growth
Current Opinion in Endocrinology Diabetes and Obesity·2016· 86 cited
Sisters with 46XY Gonadal Dysgenesis and Gonadoblastoma
55th ESPE Meeting·2016
Compound heterozygosity of a paternal submicroscopic deletion and a maternal missense mutation in <i>POR</i> gene: Antley‐bixler syndrome phenotype in three sibling fetuses
Birth Defects Research Part A Clinical and Molecular Teratology·2016· 12 cited
Genomic screening of ABCA4 and array CGH analysis underline the genetic variability of Greek patients with inherited retinal diseases
Meta Gene·2016· 4 citedOpen Access
Myotonic dystrophy type 2 presenting as inflammatory myopathy
Neurology India·2016· 2 cited
UBE3A, c.1347_1348delGA: a mutation in question
Clinical Chemistry and Laboratory Medicine (CCLM)·2015
Erratum to: An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4
Molecular Cytogenetics·2015Open Access
Awareness of prenatal screening for fetal aneuploidy among pregnant women in Greece.
PubMed·2015· 9 cited
An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4
Molecular Cytogenetics·2015· 16 citedOpen Access
Caveolinopathies in Greece
The Neurologist·2015· 7 cited
Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families
Human Mutation·2014· 85 cited
Microduplication 3q13.2q13.31 identified in a male with dysmorphic features and multiple congenital anomalies
American Journal of Medical Genetics Part A·2013· 6 cited
Novel and known nephrin gene (NPHS1) mutations in two Greek cases with congenital nephrotic syndrome including a complex genotype
Journal of Genetics·2013· 2 cited
Corrigendum to “Screening of UBE3A gene in patients referred for Angelman Syndrome” [Eur J Paediatr Neurol 17 (4) (2013) 366–373]
European Journal of Paediatric Neurology·2013
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Frequent Co-authors

Emmanuel Kanavakis(17), Maria Tzetis(15), Aspasia Tsezou(9), Konstantina Kosma(8), Ariadni Mavrou(7), Philippos C. Patsalis(6), Carolina Sismani(5), Helen Fryssira(5), Christalena Sofocleous(5), Emmanouil Manolakos(4), Michael B. Petersen(3), Marios Ioannides(3), Aggeliki Kοlialexi(3), Achilleas Attilakos(3), Κρινιώ Γιαννίκου(3), Eirini Giannatou(3), George Koumbaris(3), Maria Braoudaki(3), Eleni Leze(3), Constantinos Papadopoulos(3)