S. Kitsiou‐Tzeli

发表

Constitutive heterochromatin polymorphisms in children with acute lymphoblastic leukemia.

K. Katsouyanni, A. Tsezou, H. Kosmidis, 1993, Pediatric Hematology & Oncology.

Single-cell high resolution melting analysis: A novel, generic, pre-implantation genetic diagnosis (PGD) method applied to cystic fibrosis (HRMA CF-PGD).

J. Traeger-Synodinos, M. Tzetis, S. Kitsiou-Tzeli, 2016, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Tumor development in three patients with Noonan syndrome

E. Kanavakis, H. Fryssira, N. Stavrianeas, 2008, European Journal of Pediatrics.

Clinical manifestations in 17 Greek patients with Goldenhar syndrome.

E. Kanavakis, S. Kitsiou-Tzeli, H. Fryssira, 2006, Genetic counseling.

Milroy's primary congenital lymphedema in a male infant and review of the literature.

S. Kitsiou-Tzeli, P. Makrythanasis, C. Vrettou, 2010, In vivo.

Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y‐chromosome instability

C. Sismani, K. McElreavey, P. Patsalis, 2005, American journal of medical genetics. Part A.

Detection and incidence of cryptic Y chromosome sequences in Turner syndrome patients

C. Sismani, N. Moschonas, P. Patsalis, 1998, Clinical genetics.

Supernumerary marker chromosomes (SMCs) in Turner syndrome are mostly derived from the Y chromosome

A. Tsezou, P. Patsalis, V. Velissariou, 1997, Clinical genetics.

Androgen insensitivity syndrome: clinical features and molecular defects

E. Kanavakis, A. Kalpini-Mavrou, A. Galani, 2008, Hormones.

Spontaneous Ovulation in a True Hermaphrodite with Normal Male Phenotype and a Rare 46,XX/47,XXY Klinefelter’s Mosaic Karyotype

G. Chrousos, C. Kanaka-Gantenbein, H. Fryssira, 2007, Hormone Research in Paediatrics.

Sertoli cell tumor and gonadoblastoma in an untreated 29-year-old 46,XY phenotypic male with Frasier syndrome carrying a WT1 IVS9+4C>T mutation

C. Stefanadis, E. Kanavakis, J. Traeger-Synodinos, 2012, Hormones.

A case of non-Fanconi anemia bone marrow dysfunction with familial involvement.

N. Papadopoulos, A. Fretzayas, E. Papadaki, 1998, Pediatric hematology and oncology.

An unusual case of Cat-Eye syndrome phenotype and extragonadal mature teratoma: review of the literature.

M. Tzetis, K. Stefanaki, P. Makrythanasis, 2012, Birth defects research. Part A, Clinical and molecular teratology.

Mutation screening in the Greek population and evaluation of NLGN3 and NLGN4X genes causal factors for autism

E. Kanavakis, C. Vrettou, C. Sofocleous, 2013, Psychiatric genetics.

A substitution involving the NLGN4 gene associated with autistic behavior in the Greek population.

M. Tzetis, E. Kanavakis, A. Pampanos, 2009, Genetic testing and molecular biomarkers.

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

Edward Yang, Laurence Faivre, Jillian S Parboosingh, 2015, American journal of human genetics.

FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation.

Tomas W. Fitzgerald, N. Carter, J. Vermeesch, 2011, Human molecular genetics.

Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implications

M. Tzetis, C. Sofocleous, A. Pampanos, 2016, Clinical genetics.

Microdeletion and microduplication 17q21.31 plus an additional CNV, in patients with intellectual disability, identified by array-CGH.

M. Tzetis, E. Kanavakis, S. Kitsiou-Tzeli, 2012, Gene.

Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases

N. Tommerup, C. Sismani, M. Bak, 2018, PloS one.

Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients

S. Kitsiou-Tzeli, C. Kanaka-Gantenbein, A. Papadimitriou, 2022, European Journal of Pediatrics.

Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment

S. Kitsiou-Tzeli, A. Papadopoulou, H. Fryssira, 2011, European Journal of Pediatrics.

Rhabdomyosarcoma in a patient with Noonan syndrome phenotype and review of the literature.

M. Moschovi, S. Kitsiou-Tzeli, A. Papadopoulou, 2007, Journal of pediatric hematology/oncology.

Does the Rare A172G Mutation of PTPN11 Gene Convey a Mild Noonan Syndrome Phenotype?

E. Kanavakis, A. Papadopoulou, C. Kanaka-Gantenbein, 2006, Hormone Research in Paediatrics.

High resolution Chromosomal Microarray Analysis (CMA) enhances the genetic profile of pediatric B-cell Acute Lymphoblastic Leukemia patients.

M. Tzetis, E. Kanavakis, S. Kitsiou-Tzeli, 2019, Leukemia research.

Not by systems alone: replicability assessment of disease expression signals

G. Lyon, J. Gillis, Sara Ballouz, 2018 .

Not by systems alone: identifying functional outliers in rare disease pedigrees

G. Lyon, J. Gillis, Sara Ballouz, 2017 .

Partial disomy of Xp and the presence of SRY in a phenotypic female.

E. Blennow, A. Tsezou, M. Alevizaki, 1995, Journal of medical genetics.

miR-15a and miR-24-1 as putative prognostic microRNA signatures for pediatric pilocytic astrocytomas and ependymomas

F. Tzortzatou-Stathopoulou, M. Tzetis, E. Kanavakis, 2016, Tumor Biology.

Unilateral microtia in an infant with trisomy 18 mosaicism.

A. Kolialexi, A. Mavrou, E. Giannatou, 2009, Genetic counseling.

Dysmorphology services: a snapshot of current practices and a vision for the future

J. Clayton-Smith, S. Douzgou, S. Kitsiou-Tzeli, 2016, Clinical genetics.

De novo interstitial duplication of the 15q11.2‐q14 PWS/AS region of maternal origin: Clinical description, array CGH analysis, and review of the literature

M. Tzetis, E. Kanavakis, S. Kitsiou-Tzeli, 2010, American journal of medical genetics. Part A.

Aberrant microRNA expression in tumor mycosis fungoides

D. Rigopoulos, S. Kitsiou-Tzeli, V. Nikolaou, 2016, Tumor Biology.

Sister chromatid exchanges in peripheral lymphocytes in newborns treated with phototherapy and vitamin E

D. Gourgiotis, K. Richardson, A. Galla, 1992, Acta paediatrica.

Complex preimplantation genetic diagnosis for beta-thalassaemia, sideroblastic anaemia, and human leukocyte antigen (HLA)-typing

E. Kanavakis, J. Traeger-Synodinos, C. Vrettou, 2016, Systems biology in reproductive medicine.

Application of high-resolution array comparative genomic hybridization in children with unknown syndromic microcephaly

D. Zafeiriou, M. Tzetis, K. Giannikou, 2017, Pediatric Research.

Are ALOX5AP gene SNPs a risk or protective factor for stroke?

M. Tzetis, E. Kanavakis, K. Spengos, 2014, Gene.

A dynamic trinucleotide repeat (TNR) expansion in the DMD gene.

P. Vorgia, E. Kanavakis, C. Sofocleous, 2016, Molecular and cellular probes.

Phenotypic and Genotypic Variability in Four Males With MECP2 Gene Sequence Aberrations Including a Novel Deletion

Joanne Traeger-Synodinos, E. Kanavakis, J. Traeger-Synodinos, 2010, Pediatric Research.

Congenital Cataracts, Facial Dysmorphism, and Neuropathy Syndrome: Additional Clinical Features.

M. Tzetis, R. Pons, G. Papadimas, 2017, Pediatric neurology.

Molecular analysis of patients with autistic behaviour

A. Pampanos, E. Kanavakis, S. Giouroukos, 2008 .

Refining the locus of branchio-otic syndrome 2 (BOS2) to a 5.25 Mb locus on chromosome 1q31.3q32.1.

K. Devriendt, J. Vermeesch, B. Thienpont, 2009, European journal of medical genetics.

Three Novel Mutations in Greek Sotos Patients with Rare Clinical Manifestations

E. Kanavakis, P. Willems, H. Fryssira, 2008, Hormone Research in Paediatrics.

A clinical study of Sotos syndrome patients with review of the literature.

E. Kanavakis, S. Kitsiou-Tzeli, H. Fryssira, 2009, Pediatric neurology.

Psychomotor development of children born after preimplantation genetic diagnosis and parental stress evaluation

J. Traeger-Synodinos, E. Critselis, D. Kafetzis, 2012, World Journal of Pediatrics.

Familial Pelizaeus-Merzbacher disease caused by a 320.6-kb Xq22.2 duplication and the pathological findings of a male fetus.

M. Tzetis, A. Konstantinidou, P. Makrythanasis, 2012, Birth defects research. Part A, Clinical and molecular teratology.

A boy with conduct disorder (CD), attention deficit hyperactivity disorder (ADHD), borderline intellectual disability, and 47,XXY syndrome in combination with a 7q11.23 duplication, 11p15.5 deletion, and 20q13.33 deletion

M. Tzetis, G. Kolaitis, S. Kitsiou-Tzeli, 2016, Child and Adolescent Psychiatry and Mental Health.

Steroid hormones polymorphisms and cholelithiasis in Greek population

A. Tsezou, M. Tzetis, E. Kanavakis, 2007, Liver international : official journal of the International Association for the Study of the Liver.

Clinical and molecular description of a fetus in prenatal diagnosis with a rare de novo ring 10 and deletions of 12.59 Mb in 10p15.3-p14 and 4.22 Mb in 10q26.3.

A. Tsezou, M. Tzetis, E. Kanavakis, 2012, European journal of medical genetics.

Array comparative genomic hybridization as a clinical diagnostic tool in syndromic and nonsyndromic congenital heart disease

M. Tzetis, E. Kanavakis, S. Kitsiou-Tzeli, 2013, Pediatric Research.

High nitrate content in drinking water: cytogenetic effects in exposed children.

A. Tsezou, D. Gourgiotis, S. Mitrou, 1996, Archives of environmental health.

MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders

E. Kanavakis, J. Traeger-Synodinos, S. Kitsiou-Tzeli, 2012, Brain and Development.

Detection of 22q11.2 deletion among 139 patients with Di George/Velocardiofacial syndrome features.

G. Tsangaris, E. Kanavakis, S. Kitsiou-Tzeli, 2004, In vivo.

Okamoto syndrome in a girl of Caucasian origin

A. Dinopoulos, A. Attilakos, A. Fretzayas, 2008, Developmental medicine and child neurology.

A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder.

E. Kanavakis, J. Traeger-Synodinos, S. Kitsiou-Tzeli, 2010, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Androgen insensitivity syndrome: clinical features and molecular defects

E. Kanavakis, A. Kalpini-Mavrou, A. Galani, 2008, Hormones.

GILBERT SYNDROME ASSOCIATED WITH β-THALASSEMIA

A. Tsezou, M. Tzetis, E. Kanavakis, 2001 .

TOBRAMYCIN DOSAGE IN INFANTS AND CHILDREN

D. Kafetzis, C. Papadatos, S. Kitsiou‐Tzeli, 1978, The Lancet.