S. Kitsiou-Tzeli

发表

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

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

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.

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.

Aberrant microRNA expression in tumor mycosis fungoides

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

Not by systems alone: replicability assessment of disease expression signals

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

DIAGNOSIS OF FANCONI ANEMIA

N. Papadopoulos, S. Kitsiou-Tzeli, A. Fretzayas, 1999 .

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.

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

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

The c.504T>C (p.Asn168Asn) polymorphism in the ABCB4 gene as a predisposing factor for intrahepatic cholestasis of pregnancy in Greece

A. Tsezou, E. Roma, J. Traeger-Synodinos, 2010, Liver international : official journal of the International Association for the Study of the Liver.

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.

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.

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.

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.

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.

Clinical manifestations in 17 Greek patients with Goldenhar syndrome.

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

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.

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

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

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.

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

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

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

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

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.

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.