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The impact of maternal age on gene expression during the GV to MII transition in euploid human oocytes

Human reproduction (Oxford), 2021-12, Vol.37 (1), p.80-92

2021

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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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MicroRNA expression profiles in pediatric dysembryoplastic neuroepithelial tumors

Medical oncology (Northwood, London, England), 2016, Vol.33 (1), p.5, Article 5

2016

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Blastocyst biopsy versus cleavage stage biopsy and blastocyst transfer for preimplantation genetic diagnosis of β-thalassaemia: a pilot study

Human reproduction (Oxford), 2007-05, Vol.22 (5), p.1443-1449

2007

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

Tumor biology, 2016-07, Vol.37 (7), p.9887-9897

2016

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OP0085 The Patients with Primary Sjögren's Syndrome Display Inflammasome Activation in the Peripheral Blood and the Salivary Glands that Correlates With Deficient Degradation of DNA

Annals of the rheumatic diseases, 2015-06, Vol.74 (Suppl 2), p.100-101

2015

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Mutation spectrum and phenotypic manifestation in FSHD Greek patients

Neuromuscular disorders : NMD, 2012-04, Vol.22 (4), p.339-349

2012

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Asporin and knee osteoarthritis in patients of Greek origin

Osteoarthritis and cartilage, 2006-06, Vol.14 (6), p.609-611

2006

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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

American journal of medical genetics. Part A, 2010-08, Vol.152A (8), p.1925-1932

2010

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

Clinical genetics, 2016-01, Vol.89 (1), p.27-33

2016

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SMA prenatal diagnosis: A modified protocol to help differentiation between deletions and gene conversion

Molecular and cellular probes, 2015-02, Vol.29 (1), p.71-73

2015

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4 Advances in the use of high resolution melting analysis for prenatal diagnosis and evaluation of p.Phe508del unlabelled probe

Journal of cystic fibrosis, 2012-06, Vol.11, p.S55-S55

2012

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CFTR gene mutations - including three novel nucleotide substitutions - and haplotype background in patients with asthma, disseminated bronchiectasis and chronic obstructive pulmonary disease

Human genetics, 2001-03, Vol.108 (3), p.216-221

2001

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Preimplantation genetic diagnosis in clinical practice

Journal of medical genetics, 2002-01, Vol.39 (1), p.6-11

2002

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Birth of a healthy infant following trophectoderm biopsy from blastocysts for PGD of β-thalassaemia major: Case report

Human reproduction (Oxford), 2005-07, Vol.20 (7), p.1855-1859

2005

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44 Difficult counseling situations – lessons from a cystic fibrosis expertise laboratory

Journal of cystic fibrosis, 2011, Vol.10, p.S11-S11

2011

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Association of repeat polymorphisms in the estrogen receptors alpha, beta ( ESR1 , ESR2 ) and androgen receptor ( AR ) genes with the occurrence of breast cancer

Breast (Edinburgh), 2008-04, Vol.17 (2), p.159-166

2008

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Noninvasive prenatal diagnosis of β-thalassaemia using individual fetal erythroblasts isolated from maternal blood after enrichment

Prenatal diagnosis, 2007-12, Vol.27 (13), p.1228-1232

2007

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Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis

Clinical genetics, 2007-05, Vol.71 (5), p.451-457

2007

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Identification of novel mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene in the Greek population

Journal of cystic fibrosis, 2010, Vol.9, p.S12-S12

2010

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Severe Developmental Delay in a Patient with 7p21.1–p14.3 Microdeletion Spanning the TWIST Gene and the HOXA Gene Cluster

Molecular syndromology, 2011-12, Vol.2 (1), p.45-49

2011

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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

European journal of medical genetics, 2012-01, Vol.55 (1), p.75-79

2012

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The impact of maternal age on gene expression during the GV to MII transition in euploid human oocytes

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

MicroRNA expression profiles in pediatric dysembryoplastic neuroepithelial tumors

Blastocyst biopsy versus cleavage stage biopsy and blastocyst transfer for preimplantation genetic diagnosis of β-thalassaemia: a pilot study

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

OP0085 The Patients with Primary Sjögren's Syndrome Display Inflammasome Activation in the Peripheral Blood and the Salivary Glands that Correlates With Deficient Degradation of DNA

Mutation spectrum and phenotypic manifestation in FSHD Greek patients

Asporin and knee osteoarthritis in patients of Greek origin

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

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

SMA prenatal diagnosis: A modified protocol to help differentiation between deletions and gene conversion

Dating the Origin of the CCR5-Δ32 AIDS-Resistance Allele by the Coalescence of Haplotypes

4 Advances in the use of high resolution melting analysis for prenatal diagnosis and evaluation of p.Phe508del unlabelled probe

Chronic p53-independent p21 expression causes genomic instability by deregulating replication licensing

CFTR gene mutations - including three novel nucleotide substitutions - and haplotype background in patients with asthma, disseminated bronchiectasis and chronic obstructive pulmonary disease

Dating the Origin of the CCR5-Δ 32 AIDS-Resistance Allele by the Coalescence of Haplotypes

Preimplantation genetic diagnosis in clinical practice

Birth of a healthy infant following trophectoderm biopsy from blastocysts for PGD of β-thalassaemia major: Case report

44 Difficult counseling situations – lessons from a cystic fibrosis expertise laboratory

Association of repeat polymorphisms in the estrogen receptors alpha, beta ( ESR1 , ESR2 ) and androgen receptor ( AR ) genes with the occurrence of breast cancer

Noninvasive prenatal diagnosis of β-thalassaemia using individual fetal erythroblasts isolated from maternal blood after enrichment

Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis

Identification of novel mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene in the Greek population

Severe Developmental Delay in a Patient with 7p21.1–p14.3 Microdeletion Spanning the TWIST Gene and the HOXA Gene Cluster

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

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