ΑΡΧΙΚΗ Η ATG ΤΜΗΜΑΤΑ ΕΞΕΤΑΣΕΙΣ ΔΗΜΟΣΙΕΥΣΕΙΣ ΤΑ ΝΕΑ ΜΑΣ ΕΥΚΑΙΡΙΕΣ ΚΑΡΙΕΡΑΣ ΕΠΙΚΟΙΝΩΝΙΑ Learn all about the lab Δημοσιεύσεις ΗΜΕΡΟΜΗΝΙΑ ΠΕΡΙΟΔΙΚΟ ΤΙΤΛΟΣ ΑΡΘΡΟΥ ΣΥΓΓΡΑΦΕΙΣ 1 Αύγουστος 2021 Eur. J. Med. Genet Prenatal Diagnosis of Baraitser- Winter syndrome using exome sequencing: Clinical report and review of literature Papamichail M., Manolakos E., Papoulidis I., Siomou E., Sartsidis A., et all. 2 Ιούλιος 2021 Mol. Cytogenet Partial deletion of chromosome 6p causing developmental delay and mild dysmorphisms in a child: molecular and developmental investigation and literature search Vrachnis N., Papoulidis I., Siomou E., Manolakos E., et all. 3 Ιούνιος 2021 Mol Syndromol Novel Hemizygous Missense Variant of Spermine Synthase (SMS) Gene Causes Snyder- Robinson Syndrome in a Four- Year- Old Boy Mouskou S., Manolakos E., Papoulidis I., et all. 4 Απρίλιος 2021 J Diabetes A novel heterozygous mutation in the SLC5A2 gene causing severe glycosuria, mild failure to thrive, and subclinical hypoglycemia Papadimitriou D. T., Manolakos E., Papoulidis I., et all 5 Μάρτιος- Απρίλιος 2021 Hellenic Journal of Cardiology The multiple faces of Danon disease Ntelios D., Manolakos E., Papoulidis I., et all 6 Μάρτιος 2020 Cancer Reports and Reviews Trisomy 18 after assiduous prenatal diagnosis mimicking molar pregnancy: a case Sofoudis C., Manolakos E., Papoulidis I., et all. 7 Ιούνιος 2020 Mol Syndromol New Compound Heterozygous Splice Site Mutations of the Skeletal Muscle Ryanodine Receptor ( RYR1) Gene Manifest Fetal Akinesia: A Linkage with Congenital Myopathies Nebojsa Zecevic, Emmanouil Manolakos, Ioannis Papoulidis, Milica Filipovic Stankovic et all 8 Μάιος 2020 Biomedical Reports A novel familial mutation associated with Treacher Collins syndrome: A case report Papageorgiou E., Papoulidis I., Manolakos E., et all 9 Μάιος 2020 Hellenic Journal of Cardiology A novel Desmoplakin mutation associated with left dominant arrhythmogenic cardiomyopathy and cutaneous phenotype Efthimiadis G., Manolakos E., Papoulidis I., et all. 10 Νοέμβριος 2019 Molecular Cytogenetics Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases Koumparis G., Manolakos E., Papoulidis I., et all. 11 Νοέμβριος 2019 Journal of Medical Care Reports Lowe syndrome identified in the offspring of an oocyte donor who was an unknown carrier of a de novo mutation: a case report and review of the literature Tatsi P., Papoulidis I., et all. 12 Οκτώβριος 2019 Clinical Case Reports A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus Papadimitriou D.T., Manolakos E., et all. 13 Ιούλιος 2019 Medicina A New ABCA3 Gene Mutation c.3445G>A (p.Asp1149Asn)as a Causative Agent of Newborn Lethal Respiratory Distress Syndrome Mitsiakos G., Papoulidis I., et all. 14 Ιούνιος 2019 Biomedical Reports Autism spectrum disorder, anxiety and severe depression in a male patient with deletion and duplication in the 21q22.3 region: A case report Orru S., Papoulidis I., Siomou E., Manolakos E., et all. 15 Απρίλιος 2019 Current Genomics Split Hand Foot Malformation Syndrome: A Novel Heterozygous FGFR1 Mutation Detected by Next Generation Sequencing Papasozomenou P., Papoulidis I., et all. 16 Φεβρουάριος 2019 Human Mutation Small supernumerary market chromosomes: A legacy of trisomy rescue Kurtas N.E., Manolakos E., et all. 17 Φεβρουάριος 2019 Frontiers in Pediatrics Immune Dysregulation, Polyendrocrinopathy, Enteropathy, X- Linked Syndrome Associated With a Novel Mutation of FOXP3 Gene Agakidis C., Papoulidis I., et all. 18 Ιανουάριος 2019 Molecular Sydromology 17p13.1 Mikroduplication Sydrome in a Child, Familial Short Stature, and Growth Hormone Deficiency: A Case Report and Review of the Literature Leka- Emiri S., Manolakos E., et all. 19 Ιανουάριος 2019 Molecular Sydromology Identification of an Autosomal Dominant Mutation in the COL2A1 Gene Leading to Spondyloepiphyseal Dysplasia Congenita in a Greek Family Dikaiakou E., Manolakos E., et all. 20 Απρίλιος 2018 Current Genomics A girl with 10 Mb Distal Xp Deletion Arising from Maternal Rericentric Inversion: Clinical Data and Molecular Characterization. Papoulidis I., Paspaliaris V., Manolakos E., et all. 21 Μάρτιος 2018 Clinical Genetics Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH Vetro A., Manolakos E., et all. 22 Μάρτιος 2018 Molecular Cytogenetics Parental Origin of Deletions and Duplications- About the Necessity to Check for Cryptic Inversions Liehr T., Manolakos E., et all. 23 Δεκέμβριος 2017 Molecular Syndromology Deletion/12q Duplication Is the Possible Cause of an Alobar Holoprosencephaly Case Paspaliaris V., Manolakos E., et all 24 Δεκέμβριος 2017 Molecular Medicine Reports 7q Deletion/12q Duplication Is the Possible Cause of an Alobar Holoprosencephaly Case Paspaliaris V., Manolakos E., et all 25 Δεκέμβριος 2017 Molecular Medicine Reports, Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization Papadopoulou Z., Papoulidis I., Manolakos E., et all 26 Ιούνιος 2017 Prenatal Diagnosis Non-invasive prenatal screening versus prenatal diagnosis by array comparative genomic hybridization: a comparative retrospective study Sotiriadis A., Papoulidis I., Siomou E., Papageorgiou E., Alexiou M., Manolakos E., et all. 27 Μάιος 2017 Clinical Genetics Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH Vetro A., Manolakos E., et all. 28 Οκτώβριος 2016 Molecular Cytogenetics Prenatal diagnosis of 1p34.3 interstitial microdeletion by aCGH in a fetus with jaw bone abnormalities Dagklis T., Papageorgiou E., Siomou E., Paspaliaris V., Manolakos E., Papoulidis I., et all. 29 Αύγουστος 2016 Molecular Cytogenetics Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay Fryssira H., Papoulidis I., Manolakos E., et all. 30 Ιούνιος 2016 Journal of Musculoskeletal and Neuronal Interactions (JMNI)Osteogenesis imperfecta due to a possible new COL1A2 mutation; the importance of phenotyping and diagnostic challenges Papamerkouriou Y.M., Gyftodimou Y., et all. 31 Ιανουάριος 2016 Clinical Genetics Dysmorphology services: a snapshot of current practices and a vision for the future Douzgou S., Gyftodimou Y., et all. 32 Δεκέμβριος 2015 Prenatal Diagnosis Routine use of array comparative genomic hybridization (aCGH) as standard approach for prenatal diagnosis of chromosomal abnormalities. Clinical experience of 1763 prenatal cases Papoulidis I., Siomou E., Papageorgiou E., Manolakos E., et all. 33 Νοέμβριος 2015 Diabetes & Metabolism Maternal uniparental disomy of chromosome 4 and homozygous novel mutation in the WFS1 gene in a paediatric patient with Wolfram syndrome Papoulidis I., Siomou E., Papageorgiou E., Manolakos E., et all. 34 Σεπτέμβριος 2015 Molecular Cytogenetics Interstitial deletion at 11q14.2-11q22.1 may cause severe learning difficulties, mental retardation and mild heart defects in 13-year old male Papoulidis I., Paspaliaris V., Siomou E., Manolakos E., et all. 35 Αύγουστος 2015 European Journal of Human Genetics Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3 Vetro A., Manolakos E., et all. 36 Φεβρουάριος 2015 Gene Congenital hypothyroidism as the initial presentation that led to the diagnosis of Williams syndrome Dimitriadou M., Gyftodimou Y., et all. 37 Απρίλιος 2015 Cytogenetic and Genome Research Deletion of 4.4 Mb at 2q33.2q33.3 May Cause Growth Deficiency in a Patient with Mental Retardation, Facial Dysmorphic Features and Speech Delay Papoulidis I., Paspaliaris V., Papageorgiou E., Siomou E., Manolakos E., et all. 38 Δεκέμβριος 2015 Cytogenetic and Genome Research Complex Rearrangement Involving Three Chromosomes, Four Breakpoints and a 2.7-Mb Deletion in the 18q Segment Observed in a Girl with Mild Learning Difficulties Kontodiou M., Paspaliaris V., Papoulidis I., Manolakos E., et all. 39 Μάιος 2015 Cytogenetic and Genome Research 35-Year Follow-Up of a Case of Ring Chromosome 2: Array-CGH Analysis and Literature Review of the Ring Syndrome Sarri C., Gyftodimou Y., et all. 40 Δεκέμβριος 2014 Molecular Cytogenetics, A de novo 2.9 Mb interstitial deletion at 13q12.11 in a child with developmental delay accompanied by mild dysmorphic characteristics Lagou M., Papoulidis I., Kontodiou M., Manolakos E., et all. 41 Δεκέμβριος 2014 International Journal of Cardiology Brachydactyly and atrial septal defect: when the digits point to the heart Siniorakis E., Manolakos E., et all. 42 Ιούνιος 2014 Human Molecular Genetics Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance Varvagiannis K., Papoulidis I., Gyftodimou Y., Manolakos E., et all. 43 Απρίλιος 2014 Meta Gene De novo 393 kb microdeletion of 7p11.2 characterized by aCGH in a boy with psychomotor retardation and dysmorphic features Varvagiannis K., Papoulidis I., Gyftodimou Y., Manolakos E., et all. 44 Απρίλιος 2014 Experimental and Therapeutic Medicine Proximal 10q duplication in a child with severe central hypotonia characterized by array-comparative genomic hybridization: A case report and review of the literature Manolakos E., Papoulidis I., et all 45 Απρίλιος 2014 Birth Defects Research Part A: Clinical and Molecular Teratology Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: molecular cytogenetic analysis, fetal pathology and review of the literature Sifakis S., Manolakos E., Papoulidis I., et all. 46 Φεβρουάριος 2014 Gene A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotype Papoulidis I., Papageorgiou E., Siomou E., Manolakos E., et all. 47 Ιανουάριος 2014 Molecular Medicine Reports Prenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334‑kb deletion: a case Papoulidis I., Siomou E., Kontodiou M., Manolakos E., et all. 48 Απρίλιος 2014 Cytogenetic and Genome Research An interstitial 4q31.21q31.22 microdeletion associated with developmental delay: case report and literature review Vlaikou A.M., Manolakos E., Papoulidis I., et all. 49 Οκτώβριος 2013 Molecular Cytogenetics Prenatal diagnosis of two de novo 4q35-qter deletions characterized by array-CGH Manolakos E., Siomou E., Papageorgiou E., Papoulidis I., et all. 50 Σεπτέμβριος 2013 Nature HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle Deardorff M.A., Gyftodimou Y., et all. 51 Ιούνιος 2013 Balkan Journal of Medical Genetics Human Ring Chromosomes – New Insights for their Clinical Significance Guilherme R., Manolakos E., et all. 52 Ιούνιος 2013 Molecular Syndromology De novo 15.5-Mb Interstitial Deletion in 5p in a Male Ascertained by Oligospermia Papoulidis I., Manolakos E., et all. 53 Μάιος 2013 Orphanet Journal of Rare Diseases Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome Malfait F., Gyftodimou Y., et all. 54 Μάιος 2013 Cytogenetic and Genome Research Partial Trisomy 2p and Partial Monosomy 2q Arising from a Paternal Intrachromosomal 2q-into-2p Between-Arm Insertion and Paracentric Inversion: Molecular Cytogenetic Characterization of a Four-Break Rearrangement Manolakos E., Papoulidis I., et all. 55 Φεβρουάριος 2013 American Journal of Medical Genetics Part A Pure de novo partial trisomy 6p in a girl with craniosynostosis Varvagiannis K., Gyftodimou Y., et all. 56 Ιανουάριος 2013 Journal of Obstetrics and Gynaecology Recurrent short rib polydactyly syndrome Eleftheriades M., Manolakos E., et all. 57 Δεκέμβριος 2012 Journal of Diabetes & Metabolism Effect of Gestational Diabetes on Circulating Levels of Maternal and Neonatal Carnitine Agakidou E., Papoulidis I., et all. 58 Δεκέμβριος 2012 The Journal of Maternal-Fetal & Neonatal Medicine Detection of congenital heart defects throughout pregnancy; impact of first trimester ultrasound screening for cardiac abnormalities Eleftheriades M., Manolakos E., et all. 59 Νοέμβριος 2012 European Journal of Medical Genetics A 725 kb deletion at 22q13.1 chromosomal region including SOX10 gene in a boy with a neurologic variant of Waardenburg syndrome type 2 Siomou E., Manolakos E., Gyftodimou Y., Papoulidis I., et all. 60 Ιούλιος 2012 Journal of Clinical Ultrasound Sonographic antenatal diagnosis of congenital dacryocystoceles Sotiriou S., Manolakos E., et all. 61 Ιούλιος 2012 Prenatal Diagnosis Dual testing with QF-PCR and karyotype analysis for prenatal diagnosis of chromosomal abnormalities. Evaluation of 13,500 cases with consideration of using QF-PCR as a stand-alone test according to referral indications Papoulidis I., Siomou E., Kontodiou M., Manolakos E., et all. 62 Απρίλιος 2012 Clinical Dysmorphology Prenatal detection of an inverted duplication deletion in the long arm of chromosome 1 in a fetus with increased nuchal translucency. Molecular cytogenetic analysis and review of the literature Manolakos E., Papoulidis I., et all. 63 Μάρτιος 2012 European Journal of Medical Genetics Unexpected results in the constitution of small supernumerary marker chromosomes Vetro A., Manolakos E., et all. 64 Μάρτιος 2012 Human Immunology Recipient CTLA-4*CT60-AA genotype is a prognostic factor for acute graft-versus-host disease in hematopoietic stem cell transplantation for thalassemia Orrù S., Manolakos E., et all. 65 Φεβρουάριος 2012 Clinical Genetics High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis Orrù S., Manolakos E., et all. 66 Απρίλιος 2012 Clinical and Experimental Obstetrics and Gynecology First trimester diagnosis of 13q-syndrome associated with increased fetal nuchal translucency thickness. Clinical findings and systematic review Manolakos E., Papoulidis I., et all. 67 Φεβρουάριος 2012 Cytogenetic and Genome Research Tetrasomy 9p mosaicism associated with a normal phenotype in two cases Papoulidis I., Kontodiou M., Siomou E., Manolakos E., et all. 68 Νοέμβριος 2012 Molecular Cytogenetics Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature Sifakis S., Manolakos E., Kontodiou M., Papoulidis I., et all. 69 Νοέμβριος 2011 American Journal of Medical Genetics Part A Complex distal 10q rearrangement in a girl with mild intellectual disability: follow up of the patient and review of the literature of non-acrocentric satellited chromosomes Sarri C., Gyftodimou Y., et all. 70 Νοέμβριος 2011 Archives of Gynecology and Obstetrics Uterine arteriovenous malformations induced after diagnostic curettage: a systematic review Peitsidis P., Manolakos E., et all. 71 Ιούνιος 2011 American Journal of Medical Genetics Part A, Deletion 2q31.2-q31.3 in a 4-year-old girl with microcephaly and severe mental retardation Manolakos E., Papoulidis I., et all. 72 Μάιος 2011 The Journal of Maternal-Fetal & Neonatal Medicine Turner’s syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review Bouchlariotou S., Papoulidis I., et all. 73 Απρίλιος 2011 Molecular Cytogenetics Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy Manolakos E., Sarri C., et all. 74 Ιανουάριος 2011 International Journal of Pediatric Otorhinolaryngology Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss Kokotas H., Gyftodimou Y., et all. 75 Ιανουάριος 2011 Placenta Non-trophoblastic tumor of the placenta with combined histologic features of chorangioma and leiomyoma Miliaras D., Papoulidis I., et all. 76 Νοέμβριος 2010 Molecular Medicine Reports Characterization of 23 small supernumerary marker chromosomes detected at pre-natal diagnosis: The value of fluorescence in situ hybridization Manolakos E., Papoulidis I., et all. 77 Νοέμβριος 2010 Molecular Cytogenetics The use of array-CGH in a cohort of Greek children with developmental delay Manolakos E., Thomaidis L., et all. 78 Ιούνιος 2010 Prenatal Diagnosis A fetus with ring chromosome 21 characterized by aCGH shows no clinical findings after birth Papoulidis I., Manolakos E., Siomou E., et all. 79 Απρίλιος 2010 The Journal of Obstetrics and Gynaecology Research Prenatal detection of full monosomy 21 in a fetus with increased nuchal translucency: molecular cytogenetic analysis and review of the literature Manolakos E., Petersen M.B., et all. 80 Δεκέμβριος 2009 Cytogenetic and Genome Research Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome) Manolakos E., Papoulidis I., et all. 81 Σεπτέμβριος 2009 Prenatal Diagnosis Prenatal diagnosis of a fetus with ring chromosome 15 characterized by array-CGH Manolakos E., Papoulidis I., et all. 82 Φεβρουάριος 2009 Molecular Cytogenetics Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male itsiou-Tzeli S., Manolakos E., Kontodiou M., et all. 83 Οκτώβριος 2009 Fetal Diagnosis and Therapy Pentasomy 49,XXXXY diagnosed in utero: case report and systematic review of antenatal findings Peitsidis P., Manolakos E., et all. 84 Νοέμβριος 2008 Molecular Cytogenetics Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18)(q21.32-qter) investigated by FISH and array-CGH: Case report Manolakos E., Petersen M.B., et all. 85 Σεπτέμβριος 2008 American Journal of Medical Genetics Part A Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population Bugiani M., Gyftodimou Y., et all. 86 Ιούνιος 2008 Prenatal Diagnosis Prenatal diagnosis of a fetus with 7q11.23 deletion detected by multiplex ligation-dependent probe amplification (MLPA) screening Kontos H., Manolakos E., et all. 87 Δεκέμβριος 2007 Human Genetics Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16 Zollino M., Gyftodimou Y., et all. 88 Οκτώβριος 2006 Prenatal Diagnosis Prenatal diagnosis of glycogen storage disease type IV Akman H.O., Gyftodimou Y., et all. 89 Ιούνιος 2006 Histopathology Neonatal neuromuscular variant of glycogen storage disease type IV: histopathological findings leading to the diagnosis Konstantinidou A.E., Gyftodimou Y., et all. 90 Αύγουστος 2006 Cytogenetic and Genome Research Supernumerary marker chromosome 5 diagnosed by M-FISH in a child with congenital heart defect and unusual face Sarri C., Gyftodimou Y., et all. 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