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Deep‐intronic variants in CNGB3 cause achromatopsia by pseudoexon activation

Human mutation, 2020-01, Vol.41 (1), p.255-264

2020

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Screening of UBE3A gene in patients referred for Angelman Syndrome

European journal of paediatric neurology, 2013-07, Vol.17 (4), p.366-373

2013

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

Birth defects research. A Clinical and molecular teratology, 2016-07, Vol.106 (7), p.536-541

2016

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

Journal of cellular and molecular medicine, 2011-07, Vol.15 (7), p.1542-1550

2011

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

Journal of dermatology, 2011-12, Vol.38 (12), p.1205-1208

2011

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

American journal of medical genetics. Part A, 2014-03, Vol.164A (3), p.666-670

2014

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Influence of Interleukin 1α (IL-1α), IL-4, and IL-6 Polymorphisms on Genetic Susceptibility to Chronic Osteomyelitis

Clinical and Vaccine Immunology, 2008-12, Vol.15 (12), p.1888-1890

2008

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Broad and unexpected phenotypic expression in Greek children with steroid-resistant nephrotic syndrome due to mutations in the Wilms’ tumor 1 (WT1) gene

European journal of pediatrics, 2011-12, Vol.170 (12), p.1529-1534

2011

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Maternal epigenetics and fetal and neonatal growth

Current opinion in endocrinology, diabetes, and obesity, 2017-02, Vol.24 (1), p.43-46

2017

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

Fertility and sterility, 2008-11, Vol.90 (5), p.2008.e1-2008.e4

2008

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Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype

Molecular cytogenetics, 2008-07, Vol.1 (1), p.15-15, Article 15

2008

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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

Prenatal diagnosis, 2010-06, Vol.30 (6), p.594-594

2010

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Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy

Molecular cytogenetics, 2011-02, Vol.4 (1), p.6-6

2011

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Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy

Molecular cytogenetics, 2011-04, Vol.4 (1), p.11-11

2011

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Endocrine manifestations in DiGeorge and other microdeletion syndromes related to 22q11.2

Hormones (Athens, Greece), 2005-10, Vol.4 (4), p.200-209

2005

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

Journal of the neurological sciences, 2018-12, Vol.395, p.95-105

2018

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

Molecular cytogenetics, 2009-01, Vol.2 (1), p.1-1, Article 1

2009

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The involvement of HER2 and p53 status in the regulation of telomerase in irradiated breast cancer cells

International journal of oncology, 2009-11, Vol.35 (5), p.1141-1149

2009

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

Molecular cytogenetics, 2009-02, Vol.2 (1), p.8-8

2009

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Use of Annexin V for the Identification of Fetal Cells in Maternal Circulation

In vivo (Athens), 2004-09, Vol.18 (5), p.629-632

2004

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

Neuropediatrics, 2019-02, Vol.50 (1), p.61-63

2019

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Gilbert syndrome as a predisposing factor for cholelithiasis risk in the Greek adult population

Genetic testing and molecular biomarkers, 2009-02, Vol.13 (1), p.143-146

2009

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

Gene, 2012-09, Vol.506 (2), p.360-368

2012

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UBE3A, c.1347_1348delGA: a mutation in question

Clinical chemistry and laboratory medicine, 2016-04, Vol.54 (4), p.e143

2016

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Deep‐intronic variants in CNGB3 cause achromatopsia by pseudoexon activation

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

Screening of UBE3A gene in patients referred for Angelman Syndrome

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

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

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

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

Influence of Interleukin 1α (IL-1α), IL-4, and IL-6 Polymorphisms on Genetic Susceptibility to Chronic Osteomyelitis

Broad and unexpected phenotypic expression in Greek children with steroid-resistant nephrotic syndrome due to mutations in the Wilms’ tumor 1 (WT1) gene

Maternal epigenetics and fetal and neonatal growth

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

Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype

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

Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy

Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy

Endocrine manifestations in DiGeorge and other microdeletion syndromes related to 22q11.2

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

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

The involvement of HER2 and p53 status in the regulation of telomerase in irradiated breast cancer cells

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

Use of Annexin V for the Identification of Fetal Cells in Maternal Circulation

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

Gilbert syndrome as a predisposing factor for cholelithiasis risk in the Greek adult population

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

UBE3A, c.1347_1348delGA: a mutation in question

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