K. Kosma

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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.

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.

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.

Distribution of serum lipids and lipoproteins in patients with beta thalassaemia major; an epidemiological study in young adults from Greece

D. Panagiotakos, C. Stefanadis, C. Chrysohoou, 2004, Lipids in Health and Disease.

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.

UBE3A, c.1347_1348delGA: a mutation in question

S. Kitsiou‐Tzeli, E. Kanavakis, C. Sofocleous, 2016, Clinical chemistry and laboratory medicine.

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.

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.

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.

Further delineation of novel 1p36 rearrangements by array-CGH analysis: narrowing the breakpoints and clarifying the "extended" phenotype.

S. Kitsiou‐Tzeli, M. Tzetis, K. Giannikou, 2012, Gene.

The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

Christophe Béroud, Hanns Lochmüller, Petr Brabec, 2015, Human mutation.

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

S. Kitsiou‐Tzeli, M. Tzetis, H. Fryssira, 2018, Journal of the Neurological Sciences.

239-kb Microdeletion Spanning KMT2E in a Child with Developmental Delay: Further Delineation of the Phenotype

M. Tzetis, J. Traeger-Synodinos, K. Varvagiannis, 2021, Molecular Syndromology.

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database

K. Bushby, K. Flanigan, C. Béroud, 2017, Journal of neuromuscular diseases.

Phenotype‐driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders

J. Traeger-Synodinos, C. Sofocleous, H. Fryssira, 2021, American journal of medical genetics. Part A.

Development of a multidisciplinary clinic of neurofibromatosis type 1 and other neurocutaneous disorders in Greece. A 3-year experience

M. Tzetis, A. Kattamis, K. Kosma, 2019, Postgraduate medicine.

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

M. Moschos, S. Kitsiou‐Tzeli, M. Tzetis, 2016, Meta gene.

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

S. Kitsiou‐Tzeli, M. Tzetis, A. Konstantinidou, 2016, Birth defects research. Part A, Clinical and molecular teratology.

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.

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

S. Kitsiou‐Tzeli, E. Kanavakis, C. Stefanidis, 2013, Journal of Genetics.

Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms

P. Vorgia, M. Tzetis, J. Traeger-Synodinos, 2023, Expert review of molecular diagnostics.

A novel pathogenic ATP6V1B2 variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype

J. Traeger-Synodinos, C. Sofocleous, K. Kosma, 2022, American journal of medical genetics. Part A.

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

S. Kitsiou‐Tzeli, M. Tzetis, H. Fryssira, 2018, Neuropediatrics.

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

S. Kitsiou‐Tzeli, M. Tzetis, E. Kanavakis, 2014, American journal of medical genetics. Part A.

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

E. Kanavakis, C. Stefanidis, S. Megremis, 2013, Journal of Genetics.

Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases

M. Tzetis, J. Traeger-Synodinos, P. Makrythanasis, 2023, Genes.

Molecular and Clinical Pro�le of patients referred as Noonan or Noonan-like Syndrome in Greece: a cohort of 86 patients

K. Kosma, V. Papaevangelou, G. Papadopoulos, 2022 .

Identification of a Novel IQCE Large Deletion through Copy Number Variant Analysis from Whole-Exome Sequencing Data of a Patient with Postaxial Polydactyly Type A7

F. Fostira, J. Traeger-Synodinos, K. Kosma, 2023, Molecular Syndromology.

This Work Is Licensed under a Creative Commons Attribution 4.0 International License the Treat-nmd Dmd Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

K. Bushby, K. Flanigan, C. Béroud, 2022 .

SCN1A Channels a Wide Range of Epileptic Phenotypes: Report of Novel and Known Variants with Variable Presentations

P. Vorgia, P. Makrythanasis, C. Sofocleous, 2024, International journal of molecular sciences.

Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a Case-Based Brief Review of the Literature

C. Sofocleous, K. Kosma, P. Delaporta, 2024, Children.