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Prenatal Chromosomal Microarray Analysis: Does Increased Resolution Equal Increased Yield?

Genes, 2023-07, Vol.14 (8), p.1519

2023

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

European journal of pediatrics, 2022-10, Vol.181 (10), p.3691-3700

2022

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

Genes, 2023-07, Vol.14 (7), p.1490

2023

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

European journal of pediatrics, 2012-01, Vol.171 (1), p.51-58

2012

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Characteristics of Café-au-lait Macules and their Association with the Neurofibromatosis type I Genotype in a Cohort of Greek Children

Acta dermato-venereologica, 2023-06, Vol.103, p.adv5758-adv5758

2023

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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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NFB-17. "Optic Pathway findings in children with Neurofibromatosis type-1 (NF-1)

Neuro-oncology (Charlottesville, Va.), 2022-06, Vol.24 (Supplement_1), p.i131-i131

2022

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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

American journal of medical genetics. Part A, 2021-08, Vol.185 (8), p.2561-2571

2021

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

American journal of medical genetics. Part A, 2022-12, Vol.188 (12), p.3563-3566

2022

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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

2019

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

Molecular syndromology, 2021-08, Vol.12 (5), p.321-326

2021

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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

Molecular syndromology, 2023-06, Vol.14 (3), p.225-230

2023

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

Clinical genetics, 2016-06, Vol.89 (6), p.708-718

2016

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

Pediatric research, 2013-06, Vol.73 (6), p.772-776

2013

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De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke

Genetics in medicine, 2024-02, Vol.26 (2), p.101013-101013, Article 101013

2024

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

Postgraduate medicine, 2019-10, Vol.131 (7), p.445-452

2019

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

Gene, 2012-01, Vol.492 (1), p.319-324

2012

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

Lipids in health and disease, 2004-03, Vol.3 (1), p.3-3

2004

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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

Child and adolescent psychiatry and mental health, 2016-09, Vol.10 (1), p.33, Article 33

2016

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A REAL-TIME THREE-DIMENSIONAL ECHOCARDIOGRAPHIC QUANTITATIVE ANALYSIS OF LEFT ATRIAL FUNCTION IN ASYMPTOMATIC PATIENTS WITH B-THALASSEMIA MAJOR WITHOUT MYOCARDIAL IRON OVERLOAD

Journal of the American College of Cardiology, 2011-04, Vol.57 (14), p.E854-E854

2011

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Prenatal Chromosomal Microarray Analysis: Does Increased Resolution Equal Increased Yield?

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

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

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

Characteristics of Café-au-lait Macules and their Association with the Neurofibromatosis type I Genotype in a Cohort of Greek Children

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

NFB-17. "Optic Pathway findings in children with Neurofibromatosis type-1 (NF-1)

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

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

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

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

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

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

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

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

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

De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke

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

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

UBE3A, c.1347_1348delGA: a mutation in question

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

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

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

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

A REAL-TIME THREE-DIMENSIONAL ECHOCARDIOGRAPHIC QUANTITATIVE ANALYSIS OF LEFT ATRIAL FUNCTION IN ASYMPTOMATIC PATIENTS WITH B-THALASSEMIA MAJOR WITHOUT MYOCARDIAL IRON OVERLOAD

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