the lab


1May 2020Biomedical ReportsA novel familial mutation associated with Treacher Collins syndrome: A case reportPapageorgiou E., Papoulidis I., Manolakos E., et all
2May 2020Hellenic Journal of CardiologyA novel Desmoplakin mutation associated with left dominant arrhythmogenic cardiomyopathy and cutaneous phenotypeEfthimiadis G., Manolakos E., Papoulidis I., et all.
3November 2019Molecular CytogeneticsTargeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseasesKoumparis G., Manolakos E., Papoulidis I., et all.
4November 2019Journal of Medical Care ReportsLowe 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 literatureTatsi P., Papoulidis I., et all.
5October 2019Clinical Case ReportsA novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidusPapadimitriou D.T., Manolakos E., et all.
6July 2019 MedicinaA New ABCA3 Gene Mutation c.3445G>A (p.Asp1149Asn)as a Causative Agent of Newborn Lethal Respiratory Distress SyndromeMitsiakos G., Papoulidis I., et all.
7June 2019 Biomedical ReportsAutism spectrum disorder, anxiety and severe depression in a male patient with deletion and duplication in the 21q22.3 region: A case reportOrru S., Papoulidis I., Siomou E., Manolakos E., et all.
8April 2019Current GenomicsSplit Hand Foot Malformation Syndrome: A Novel Heterozygous FGFR1 Mutation Detected by Next Generation SequencingPapasozomenou P., Papoulidis I., et all.
9February 2019Human MutationSmall supernumerary market chromosomes: A legacy of trisomy rescueKurtas N.E., Manolakos E., et all.
10February 2019Frontiers in PediatricsImmune Dysregulation, Polyendrocrinopathy, Enteropathy, X- Linked Syndrome Associated With a Novel Mutation of FOXP3 GeneAgakidis C., Papoulidis I., et all.
11January 2019Molecular Sydromology17p13.1 Mikroduplication Sydrome in a Child, Familial Short Stature, and Growth Hormone Deficiency: A Case Report and Review of the LiteratureLeka- Emiri S., Manolakos E., et all.
12January 2019Molecular SydromologyIdentification of an Autosomal Dominant Mutation in the COL2A1 Gene Leading to Spondyloepiphyseal Dysplasia Congenita in a Greek FamilyDikaiakou E., Manolakos E., et all.
13April 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.
14March 2018Clinical GeneticsDiagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOHVetro A., Manolakos E., et all.
15March 2018Molecular CytogeneticsParental Origin of Deletions and Duplications- About the Necessity to Check for Cryptic InversionsLiehr T., Manolakos E., et all.
16December 2017Molecular Syndromology Deletion/12q Duplication Is the Possible Cause of an Alobar Holoprosencephaly CasePaspaliaris V.Manolakos E., et all
17December 2017Molecular Medicine Reports7q Deletion/12q Duplication Is the Possible Cause of an Alobar Holoprosencephaly CasePaspaliaris V.Manolakos E., et all
18December 2017Molecular Medicine Reports,Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridizationPapadopoulou Z., Papoulidis I.Manolakos E., et all
19June 2017Prenatal Diagnosis Non-invasive prenatal screening versus prenatal diagnosis by array comparative genomic hybridization: a comparative retrospective studySotiriadis A., Papoulidis I.Siomou E.Papageorgiou E.Alexiou M.Manolakos E., et all.
20May 2017Clinical Genetics Diagnosticapplication 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.
21October 2016Molecular Cytogenetics Prenatal diagnosis of 1p34.3 interstitial microdeletion by aCGH in a fetus with jaw bone abnormalitiesDagklis T., Papageorgiou E., Siomou E., Paspaliaris V., Manolakos E.Papoulidis I., et all.
22August 2016Molecular CytogeneticsPartial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delayFryssira H., Papoulidis I.Manolakos E., et all.
23June 2016Journal of Musculoskeletal and Neuronal Interactions(JMNI)Osteogenesis imperfecta due to a possible new COL1A2 mutation; the importance of phenotyping and diagnostic challengesPapamerkouriou Y.M., Gyftodimou Y., et all.
24January 2016 Clinical Genetics Dysmorphology services: a snapshot of current practices and a vision for the futureDouzgou S., Gyftodimou Y., et all.
25December 2015Prenatal DiagnosisRoutine use of array comparative genomic hybridization (aCGH) as standard approach for prenatal diagnosis of chromosomal abnormalities. Clinical experience of 1763 prenatal casesPapoulidis I.Siomou E.Papageorgiou E.Manolakos E., et all.
26November 2015 Diabetes & MetabolismMaternal uniparental disomy of chromosome 4 and homozygous novel mutation in the WFS1 gene in a paediatric patient with Wolfram syndromePapoulidis I.Siomou E.Papageorgiou E.Manolakos E., et all.
27September 2015 Molecular CytogeneticsInterstitial deletion at 11q14.2-11q22.1 may cause severe learning difficulties, mental retardation and mild heart defects in 13-year old malePapoulidis I.Paspaliaris V.Siomou E.Manolakos E., et all.
28August 2015European Journal of Human GeneticsTestis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3Vetro A., Manolakos E., et all.
29February 2015GeneCongenital hypothyroidism as the initial presentation that led to the diagnosis of Williams syndromeDimitriadou M., Gyftodimou Y., et all.
30April 2015Cytogenetic 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 DelayPapoulidis I.Paspaliaris V.Papageorgiou E.Siomou E., Manolakos E., et all.
31December 2015Cytogenetic and Genome ResearchComplex Rearrangement Involving Three Chromosomes, Four Breakpoints and a 2.7-Mb Deletion in the 18q Segment Observed in a Girl with Mild Learning DifficultiesKontodiou M., Paspaliaris V., Papoulidis I.Manolakos E., et all.
32May 2015 Cytogenetic and Genome Research35-Year Follow-Up of a Case of Ring Chromosome 2: Array-CGH Analysis and Literature Review of the Ring SyndromeSarri C., Gyftodimou Y., et all.
33December 2014 Molecular Cytogenetics,A de novo 2.9 Mb interstitial deletion at 13q12.11 in a child with developmental delay accompanied by mild dysmorphic characteristicsLagou M., Papoulidis I.Kontodiou M.Manolakos E., et all.
34December 2014International Journal of CardiologyBrachydactyly and atrial septal defect: when the digits point to the heartSiniorakis E., Manolakos E., et all.
35June 2014Human 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 inheritanceVarvagiannis K., Papoulidis I., Gyftodimou Y.Manolakos E., et all.
36April 2014Meta GeneDe novo 393 kb microdeletion of 7p11.2 characterized by aCGH in a boy with psychomotor retardation and dysmorphic featuresVarvagiannis K., Papoulidis I., Gyftodimou Y.Manolakos E., et all.
37April 2014Experimental and Therapeutic MedicineProximal 10q duplication in a child with severe central hypotonia characterized by array-comparative genomic hybridization: A case report and review of the literatureManolakos E.Papoulidis I., et all
38April 2014Birth Defects Research Part A: Clinical and Molecular  TeratologyPrenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: molecular cytogenetic analysis, fetal pathology and review of the literatureSifakis S., Manolakos E.Papoulidis I., et all.
39February 2014GeneA patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotypePapoulidis I.Papageorgiou E.Siomou E.Manolakos E., et all.
40January 2014Molecular Medicine ReportsPrenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334‑kb deletion: a casePapoulidis I., Siomou E.Kontodiou M.Manolakos E., et all.
41April 2014Cytogenetic and Genome ResearchAn interstitial 4q31.21q31.22 microdeletion associated with developmental delay: case report and literature reviewVlaikou A.M., Manolakos E., Papoulidis I., et all.
42October 2013Molecular CytogeneticsPrenatal diagnosis of two de novo 4q35-qter deletions characterized by array-CGHManolakos E.Siomou E.Papageorgiou E., Papoulidis I., et all.
43September 2013 NatureHDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycleDeardorff M.A., Gyftodimou Y., et all.
44June 2013Balkan Journal of Medical GeneticsHuman Ring Chromosomes – New Insights for their Clinical SignificanceGuilherme R., Manolakos E., et all.
45June 2013 Molecular Syndromology De novo 15.5-Mb Interstitial Deletion in 5p in a Male Ascertained by OligospermiaPapoulidis I., Manolakos E., et all.
46May 2013Orphanet Journal of Rare DiseasesHelical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndromeMalfait F., Gyftodimou Y., et all.
47May 2013Cytogenetic 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 RearrangementManolakos E.Papoulidis I., et all.
48February 2013American Journal of Medical Genetics Part APure de novo partial trisomy 6p in a girl with craniosynostosisVarvagiannis K., Gyftodimou Y., et all.
49January 2013Journal of Obstetrics and GynaecologyRecurrent short rib polydactyly syndromeEleftheriades M., Manolakos E., et all.
50December 2012Journal of Diabetes & MetabolismEffect of Gestational Diabetes on Circulating Levels of Maternal and Neonatal CarnitineAgakidou E., Papoulidis I., et all.
51December 2012The Journal of Maternal-Fetal & Neonatal MedicineDetection of congenital heart defects throughout pregnancy; impact of first trimester ultrasound screening for cardiac abnormalitiesEleftheriades M., Manolakos E., et all.
52November 2012European 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 2Siomou E.Manolakos E.Gyftodimou Y.Papoulidis I., et all.
53July 2012Journal of Clinical UltrasoundSonographic antenatal diagnosis of congenital dacryocystocelesSotiriou S., Manolakos E., et all.
54July 2012 Prenatal DiagnosisDual 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 indicationsPapoulidis I.Siomou E., Kontodiou M., Manolakos E., et all.
55April 2012Clinical DysmorphologyPrenatal 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 literatureManolakos E., Papoulidis I., et all.
56March 2012European Journal of Medical GeneticsUnexpected results in the constitution of small supernumerary marker chromosomesVetro A., Manolakos E., et all.
57March 2012Human ImmunologyRecipient CTLA-4*CT60-AA genotype is a prognostic factor for acute graft-versus-host disease in hematopoietic stem cell transplantation for thalassemiaOrrù S., Manolakos E., et all.
58February 2012Clinical Genetics High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosisOrrù S., Manolakos E., et all.
59April 2012 Clinical and Experimental Obstetrics and GynecologyFirst trimester diagnosis of 13q-syndrome associated with increased fetal nuchal translucency thickness. Clinical findings and systematic reviewManolakos E.Papoulidis I., et all.
Cytogenetic and Genome ResearchTetrasomy 9p mosaicism associated with a normal phenotype in two casesPapoulidis I.Kontodiou M.Siomou E.Manolakos E., et all.
Molecular CytogeneticsPrenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literatureSifakis S., Manolakos E., Kontodiou M., Papoulidis I., et all.
62November 2011American Journal of Medical Genetics Part AComplex distal 10q rearrangement in a girl with mild intellectual disability: follow up of the patient and review of the literature of non-acrocentric satellited chromosomesSarri C., Gyftodimou Y., et all.
63November 2011Archives of Gynecology and ObstetricsUterine arteriovenous malformations induced after diagnostic curettage: a systematic reviewPeitsidis P., Manolakos E., et all.
64June 2011American Journal of Medical Genetics Part A,Deletion 2q31.2-q31.3 in a 4-year-old girl with microcephaly and severe mental retardationManolakos E., Papoulidis I., et all.
65May 2011The Journal of Maternal-Fetal & Neonatal MedicineTurner’s syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature reviewBouchlariotou S., Papoulidis I., et all.
66April 2011Molecular CytogeneticsCombined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boyManolakos E., Sarri C., et all.
67January 2011International Journal of Pediatric OtorhinolaryngologyHomoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing lossKokotas H., Gyftodimou Y., et all.
68January 2011PlacentaNon-trophoblastic tumor of the placenta with combined histologic features of chorangioma and leiomyomaMiliaras D., Papoulidis I., et all.
69November 2010Molecular Medicine ReportsCharacterization of 23 small supernumerary marker chromosomes detected at pre-natal diagnosis: The value of fluorescence in situ hybridizationManolakos E., Papoulidis I., et all.
70November 2010Molecular CytogeneticsThe use of array-CGH in a cohort of Greek children with developmental delayManolakos E., Thomaidis L., et all.
71June 2010Prenatal DiagnosisA fetus with ring chromosome 21 characterized by aCGH shows no clinical findings after birthPapoulidis I.Manolakos E.Siomou E., et all.
72April 2010The Journal of Obstetrics and Gynaecology ResearchPrenatal detection of full monosomy 21 in a fetus with increased nuchal translucency: molecular cytogenetic analysis and review of the literatureManolakos E., Petersen M.B., et all.
73December 2009Cytogenetic and Genome ResearchDetailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome)Manolakos E., Papoulidis I., et all.
74September 2009Prenatal DiagnosisPrenatal diagnosis of a fetus with ring chromosome 15 characterized by array-CGHManolakos E.Papoulidis I., et all.
75February 2009Molecular CytogeneticsCharacterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal maleitsiou-Tzeli S., Manolakos E.Kontodiou M., et all.
Fetal Diagnosis and TherapyPentasomy 49,XXXXY diagnosed in utero: case report and systematic review of antenatal findingsPeitsidis P., Manolakos E., et all.
77November 2008Molecular CytogeneticsComplex 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.
78September 2008American Journal of Medical Genetics Part ACohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island populationBugiani M., Gyftodimou Y., et all.
79June 2008Prenatal DiagnosisPrenatal diagnosis of a fetus with 7q11.23 deletion detected by multiplex ligation-dependent probe amplification (MLPA) screeningKontos H., Manolakos E., et all.
80December 2007Human GeneticsWolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16Zollino M., Gyftodimou Y., et all.
81October 2006 Prenatal DiagnosisPrenatal diagnosis of glycogen storage disease type IVAkman H.O., Gyftodimou Y., et all.
HistopathologyNeonatal neuromuscular variant of glycogen storage disease type IV: histopathological findings leading to the diagnosisKonstantinidou A.E., Gyftodimou Y., et all.
Cytogenetic and Genome ResearchSupernumerary marker chromosome 5 diagnosed by M-FISH in a child with congenital heart defect and unusual faceSarri C., Gyftodimou Y., et all.