Sofia Kitsiou-Tzeli : rechercher sur Z-Library

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1

Maternal epigenetics and fetal and neonatal growth

Kitsiou-Tzeli, Sofia, Tzetis, Maria

Journal:

Current Opinion in Endocrinology Diabetes and Obesity

Année:

2016

Langue:

english

Fichier:

PDF, 181 KB

english, 2016

2

Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male

Sofia Kitsiou-Tzeli, Emmanouil Manolakos, Magdalini Lagou, Katerina Anagnostopoulou, Maria Kontodiou, Nadezda Kosyakova, Elisabeth Ewers, Anja Weise, Antonios Garas, Sandro Orru, Thomas Liehr, Aikater

Journal:

Molecular Cytogenetics

Année:

2009

Langue:

english

Fichier:

PDF, 65 KB

english, 2009

3

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

Sofia Kitsiou-Tzeli, Carolina Sismani, Marios Ioannides, Stavros Bashiardes, Andria Ketoni, Vassiliki Touliatou, Aggeliki Kolialexi, Ariadni Mavrou, Emanuel Kanavakis, Philippos C. Patsalis

Journal:

European Journal of Medical Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 690 KB

english, 2007

4

Compound heterozygosity of a paternal submicroscopic deletion and a maternal missense mutation in POR gene: Antley-bixler syndrome phenotype in three sibling fetuses

Tzetis, Maria, Konstantinidou, Anastasia, Sofocleous, Christalena, Kosma, Konstantina, Mitrakos, Anastasios, Tzannatos, Christina, Kitsiou-Tzeli, Sofia

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Année:

2016

Langue:

english

Fichier:

PDF, 248 KB

english, 2016

5

Phenotypic expression of a spectrum of Neurofibromatosis Type 1 (NF1) mutations identified through NGS and MLPA

Tsipi, Maria, Poulou, Myrto, Fylaktou, Eirini, Kosma, Konstantina, Tsoutsou, Eirini, Pons, Maria-Roser, Kokkinou, Eleftheria, Kitsiou-Tzeli, Sofia, Fryssira, Helen, Tzetis, Maria

Journal:

Journal of the Neurological Sciences

Année:

2018

Langue:

english

Fichier:

PDF, 711 KB

english, 2018

6

Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male

Sofia Kitsiou-Tzeli, Emmanouil Manolakos, Magdalini Lagou, Maria Kontodiou, Nadezda Kosyakova, Elisabeth Ewers, Anja Weise, Antonios Garas, Sandro Orru, Thomas Liehr, Aikaterini Metaxotou

Journal:

Molecular Cytogenetics

Année:

2009

Langue:

english

Fichier:

PDF, 641 KB

english, 2009

7

Prenatal diagnosis of a de novo partial trisomy 10p12.1–12.2 pter originating from an unbalanced translocation onto 15qter and confirmed with array CGH

Sofia Kitsiou-Tzeli, Carolina Sismani, Margarita Karkaletsi, Lina Florentin, Anastassios Anastassiou, George Koumbaris, Paola Enangelidou, Emmanouil Agapitos, P. C. Patsalis, Voula Velissariou

Journal:

Prenatal Diagnosis

Année:

2008

Langue:

english

Fichier:

PDF, 94 KB

english, 2008

8

Erratum: Prenatal diagnosis of a de novo partial trisomy 10p12.1–12.2 pter originating from an unbalanced translocation onto 15qter and confirmed with array CGH

Sofia Kitsiou-Tzeli, Carolina Sismani, Margarita Karkaletsi, Lina Florentin, Anastassios Anastassiou, George Koumbaris, Paola Evangelidou, Emmanouil Agapitos, P. C. Patsalis, Voula Velissariou

Journal:

Prenatal Diagnosis

Année:

2010

Langue:

english

Fichier:

PDF, 24 KB

english, 2010

9

Nevoid basal carcinoma syndrome (Gorlin syndrome) and pronounced androgenic alopecia in a woman with a novel mutation p.Leu1159fsx32 in the PTCH gene

Sofia KITSIOU-TZELI, Patrick WILLEMS, Maria KOSMADAKI, Eleni LEZE, Christine VRETTOU, Emmanuel KANAVAKIS, Alexandra KATSAROU

Journal:

The Journal of Dermatology

Année:

2011

Langue:

english

Fichier:

PDF, 290 KB

english, 2011

10

Survivin regulation by HER2 through NF-κB and c-myc in irradiated breast cancer cells

Vassilis Papanikolaou, Dimitrios Iliopoulos, Ioannis Dimou, Stephanie Dubos, Constantine Kappas, Sofia Kitsiou-Tzeli, Aspasia Tsezou

Journal:

Journal of Cellular and Molecular Medicine

Année:

2011

Langue:

english

Fichier:

PDF, 793 KB

english, 2011

11

The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization

Tzetis, Maria, Kitsiou-Tzeli, Sofia, Frysira, Helen, Xaidara, Athena, Kanavakis, Emmanuel

Journal:

Expert Review of Molecular Diagnostics

Année:

2012

Langue:

english

Fichier:

PDF, 369 KB

english, 2012

12

Sex-reversed phenotype in association with two novel mutations c.2494delA and c.T3004C in the ligand-binding domain of the androgen receptor gene

Angeliki Galani, Christalena Sofocleous, Feneli Karahaliou, Asteroula Papathanasiou, Sofia Kitsiou-Tzeli, Ariadni Kalpini-Mavrou

Journal:

Fertility and Sterility

Année:

2008

Langue:

english

Fichier:

PDF, 192 KB

english, 2008

13

Further delineation of novel 1p36 rearrangements by array-CGH analysis: Narrowing the breakpoints and clarifying the “extended” phenotype

Krinio Giannikou, Helen Fryssira, Vasilis Oikonomakis, Areti Syrmou, Konstantina Kosma, Maria Tzetis, Sofia Kitsiou-Tzeli, Emmanouel Kanavakis

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 697 KB

english, 2012

14

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

Sofia Kitsiou-Tzeli, Carolina Sismani, George Koumbaris, Marios Ioannides, Emmanuel Kanavakis, Angeliki Kolialexi, Ariadni Mavrou, Vasiliki Touliatou, Philippos C. Patsalis

Journal:

European Journal of Medical Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 357 KB

english, 2008

15

Acute acalculous cholecystitis in children with Epstein–Barr virus infection: a role for Gilbert's syndrome?

Achilleas Attilakos, Alexia Prassouli, George Hadjigeorgiou, Evangelia Lagona, Sofia Kitsiou-Tzeli, Angeliki Galla, Anastasia Stasinopoulou, Themistocles Karpathios

Journal:

International Journal of Infectious Diseases

Année:

2009

Langue:

english

Fichier:

PDF, 139 KB

english, 2009

16

Cryptic genomic imbalances in patients withde novoor familial apparently balanced translocations and abnormal phenotype

Carolina Sismani, Sofia Kitsiou-Tzeli, Marios Ioannides, Christodoulos Christodoulou, Violetta Anastasiadou, Goula Stylianidou, Eleftheria Papadopoulou, Emanuel Kanavakis, Zoe Kosmaidou-Aravidou, Phil

Journal:

Molecular Cytogenetics

Année:

2008

Langue:

english

Fichier:

PDF, 1.01 MB

english, 2008

17

Screening of UBE3A gene in patients referred for Angelman Syndrome

Tzagkaraki, Evmorfia, Sofocleous, Christalena, Helen, Fryssira-Kanioura, Dinopoulos, Argyris, Goulielmos, Georgios, Mavrou, Ariadni, Sofia, Kitsiou-Tzeli, Kanavakis, Emmanuel

Journal:

European Journal of Paediatric Neurology

Année:

2013

Langue:

english

Fichier:

PDF, 1.32 MB

english, 2013

18

Novel and known nephrin gene (NPHS1) mutations in two Greek cases with congenital nephrotic syndrome including a complex genotype

FYLAKTOU, IRENE, MEGREMIS, SPYRIDON, MITSIONI, ANDROMACHI, KITSIOU-TZELI, SOFIA, KOSMA, KONSTANTINA, BITSORI, MARIA, STEFANIDIS, CONSTANTINOS J., KANAVAKIS, EMMANUEL, SYNODINOS, JOANNE TRAEGER

Journal:

Journal of Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 755 KB

english, 2013

19

Corrigendum to “Screening of UBE3A gene in patients referred for Angelman Syndrome” [Eur J Paediatr Neurol 17 (4) (2013) 366–373]

Tzagkaraki, Evmorfia, Sofocleous, Christalena, Fryssira-Kanioura, Helen, Dinopoulos, Argyris, Goulielmos, Georgios, Mavrou, Ariadni, Kitsiou-Tzeli, Sofia, Kanavakis, Emmanuel

Journal:

European Journal of Paediatric Neurology

Année:

2013

Langue:

english

Fichier:

PDF, 170 KB

english, 2013

20

Genetic Polymorphisms in the UGT1A1 Gene and Breast Cancer Risk in Greek Women

Tsezou, Aspasia, Tzetis, Maria, Giannatou, Eirini, Gennatas, Constantinos, Pampanos, Andreas, Kanavakis, Emmanuel, Kitsiou-Tzeli, Sofia

Journal:

Genetic Testing

Année:

2007

Langue:

english

Fichier:

PDF, 67 KB

english, 2007

21

Microduplication 3q13.2q13.31 identified in a male with dysmorphic features and multiple congenital anomalies

Karavitakis, Emmanouil, Kitsiou-Tzeli, Sofia, Xaidara, Athena, Kosma, Konstantina, Makrythanasis, Periklis, Apazidou, Eleni, Kanavakis, Emmanuel, Tzetis, Maria

Journal:

American Journal of Medical Genetics Part A

Année:

2014

Langue:

english

Fichier:

PDF, 270 KB

english, 2014

22

hTERT regulation by NF-κB and c-myc in irradiated HER2-positive breast cancer cells

Papanikolaou, Vassilis, Athanassiou, Evangelos, Dubos, Stephanie, Dimou, Ioannis, Papathanasiou, Ioanna, Kitsiou-tzeli, Sofia, Kappas, Constantin, Tsezou, Aspasia

Journal:

International Journal of Radiation Biology

Année:

2011

Langue:

english

Fichier:

PDF, 1.42 MB

english, 2011

23

Gilbert Syndrome as a Predisposing Factor for Cholelithiasis Risk in the Greek Adult Population

Tsezou, Aspasia, Tzetis, Maria, Giannatou, Eirini, Spanos, Ierotheos, Roma, Eleutheria, Fretzayas, Alexandros, Kanavakis, Emmanuel, Kitsiou-Tzeli, Sofia

Journal:

Genetic Testing and Molecular Biomarkers

Année:

2009

Langue:

english

Fichier:

PDF, 72 KB

english, 2009

24

Knowledge and Attitudes towards Prenatal Diagnostic Procedures among Pregnant Women in Greece

Kitsiou-Tzeli, Sofia, Petridou, Eleni T., Karagkiouzis, Thomas, Dessypris, Nick, Makrithanasis, Periklis, Sifakis, Stavros, Kanavakis, Emmanuel

Journal:

Fetal Diagnosis and Therapy

Année:

2010

Langue:

english

Fichier:

PDF, 129 KB

english, 2010

25

UBE3A, c.1347_1348delGA: a mutation in question

Sofocleous, Christalena, Tzagkaraki, Evmorfia, Kosma, Konstantina, Kanavakis, Emmanuel, Kitsiou-Tzeli, Sofia

Journal:

Clinical Chemistry and Laboratory Medicine

Année:

2016

Langue:

english

Fichier:

PDF, 363 KB

english, 2016

26

Constitutive Heterochromatin Polymorphisms in Children with Acute Lymphoblastic Leukemia

Tsezoil, Aspasia, Kitsiou-Tzeli, Sofia, Kosmidis, Helen, Paidousi, Kalliopi, Katsouyanni, Klea, Sinaniotis, Constantine

Journal:

Pediatric Hematology-Oncology

Année:

1993

Langue:

english

Fichier:

PDF, 434 KB

english, 1993

27

Genomic screening of ABCA4 and array CGH analysis underline the genetic variability of Greek patients with inherited retinal diseases

Tsipi, Maria, Tzetis, Maria, Kosma, Konstantina, Moschos, Marilita, Braoudaki, Maria, Poulou, Myrto, Kanavakis, Emmanuel, Kitsiou-Tzeli, Sofia

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 280 KB

english, 2016

28

An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4

Selenti, Nikoletta, Tzetis, Maria, Braoudaki, Maria, Giannikou, Krinio, Kitsiou-Tzeli, Sofia, Fryssira, Helen

Journal:

Molecular Cytogenetics

Année:

2015

Langue:

english

Fichier:

PDF, 916 KB

english, 2015

29

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

Selenti, Nikoletta, Tzetis, Maria, Braoudaki, Maria, Giannikou, Krinio, Kitsiou-Tzeli, Sofia, Fryssira, Helen

Journal:

Molecular Cytogenetics

Année:

2015

Langue:

english

Fichier:

PDF, 294 KB

english, 2015

30

Caveolinopathies in Greece

Papadopoulos, Constantinos, Papadimas, George K., Kekou, Kyriaki, Spengos, Konstantinos, Svigou, Maria, Kitsiou-Tzeli, Sofia, Manta, Panagiota

Journal:

The Neurologist

Année:

2015

Langue:

english

Fichier:

PDF, 211 KB

english, 2015

31

A Female Patient with Xq28 Microduplication Presenting with Myotubular Myopathy, Confirmed with a Custom-Designed X-array

Kosma, Konstantina, Mitrakos, Anastasios, Sofokleous, Christalena, Papadimas, George, Fryssira, Helena, Kitsiou-Tzeli, Sofia, Tzetis, Maria

Journal:

Neuropediatrics

Année:

2018

Langue:

english

Fichier:

PDF, 66 KB

english, 2018