E. Manolakos

M. Eleftheriades, A. Sotiriadis, E. Manolakos, 2012, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay

C. Skentou, T. Liehr, H. Fryssira, 2016, Molecular Cytogenetics.

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

T. Liehr, A. Vetro, I. Papoulidis, 2015, Cytogenetic and Genome Research.

A novel Desmoplakin mutation associated with left dominant arrhythmogenic cardiomyopathy and cutaneous phenotype.

T. Karamitsos, H. Karvounis, I. Papoulidis, 2020, Hellenic journal of cardiology : HJC = Hellenike kardiologike epitheorese.

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

I. Papoulidis, E. Papageorgiou, E. Manolakos, 2015, Cytogenetic and Genome Research.

Cantú Syndrome Associated with Ovarian Agenesis

C. Sofocleous, H. Fryssira, E. Manolakos, 2017, Molecular Syndromology.

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

T. Liehr, O. Zuffardi, S. Sifakis, 2013, Cytogenetic and Genome Research.

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

S. Kitsiou‐Tzeli, M. Petersen, A. Papadopoulou, 2011, Molecular Cytogenetics.

A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus

F. Urano, E. Manolakos, A. Papadimitriou, 2018, Clinical case reports.

A Girl with 10 Mb Distal Xp Deletion Arising from Maternal Pericentric Inversion: Clinical Data and Molecular Characterization

T. Liehr, A. Vetro, G. Daskalakis, 2017, Current genomics.

A de novo 2.9 Mb interstitial deletion at 13q12.11 in a child with developmental delay accompanied by mild dysmorphic characteristics

M. Petersen, G. Kitsos, E. Anastasakis, 2014, Molecular Cytogenetics.

De novo 15.5-Mb Interstitial Deletion in 5p in a Male Ascertained by Oligospermia

O. Zuffardi, A. Vetro, I. Papoulidis, 2013, Molecular Syndromology.

Deletion 2q31.2‐q31.3 in a 4‐year‐old girl with microcephaly and severe mental retardation

T. Liehr, O. Zuffardi, S. Sifakis, 2011, American journal of medical genetics. Part A.

Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases

C. Sismani, P. Patsalis, K. Tsangaras, 2019, Molecular Cytogenetics.

Pentasomy 49,XXXXY Diagnosed in utero: Case Report and Systematic Review of Antenatal Findings

P. Peitsidis, E. Manolakos, P. Tsoplou, 2009, Fetal Diagnosis and Therapy.

Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3

G. Camerino, M. Carella, A. Brusco, 2014, European Journal of Human Genetics.

Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature

O. Zuffardi, S. Sifakis, P. Peitsidis, 2012, Molecular Cytogenetics.

Unexpected results in the constitution of small supernumerary marker chromosomes.

T. Liehr, O. Zuffardi, G. Arrigo, 2012, European journal of medical genetics.

An Interstitial 4q31.21q31.22 Microdeletion Associated with Developmental Delay: Case Report and Literature Review

T. Liehr, G. Markopoulos, A. Vetro, 2014, Cytogenetic and Genome Research.

Pharmacoresistant epilepsy associated with mutations in the KCNB1 and RELN genes. A case report

E. Manolakos, A. Korona, D. Alexopoulou, 2020, Journal of Epileptology.

Small supernumerary marker chromosomes: A legacy of trisomy rescue?

D. Larizza, N. Tommerup, M. Delledonne, 2018, Human mutation.

De novo 393 kb microdeletion of 7p11.2 characterized by aCGH in a boy with psychomotor retardation and dysmorphic features

T. Liehr, Y. Gyftodimou, M. Petersen, 2014, Meta gene.

Partial deletion of chromosome 6p causing developmental delay and mild dysmorphisms in a child: molecular and developmental investigation and literature search

I. Papoulidis, E. Siomou, E. Manolakos, 2021, Molecular cytogenetics.

A 725 kb deletion at 22q13.1 chromosomal region including SOX10 gene in a boy with a neurologic variant of Waardenburg syndrome type 2.

Y. Gyftodimou, M. Petersen, I. Papoulidis, 2012, European journal of medical genetics.

Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization

T. Liehr, O. Zuffardi, S. Sifakis, 2017, Molecular medicine reports.

The use of array-CGH in a cohort of Greek children with developmental delay

T. Liehr, M. Petersen, P. Peitsidis, 2010, Molecular Cytogenetics.

Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay

C. Skentou, T. Liehr, H. Fryssira, 2016, Molecular Cytogenetics.

Prenatal detection of full monosomy 21 in a fetus with increased nuchal translucency: Molecular cytogenetic analysis and review of the literature

T. Liehr, P. Peitsidis, M. Eleftheriades, 2010, The journal of obstetrics and gynaecology research.

Uterine arteriovenous malformations induced after diagnostic curettage: a systematic review

R. Kreienberg, P. Peitsidis, L. Schwentner, 2011, Archives of Gynecology and Obstetrics.

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

G. Efstathiou, S. Sifakis, E. Anastasakis, 2012, Prenatal diagnosis.

Parental origin of deletions and duplications – about the necessity to check for cryptic inversions

A. Dufke, K. Mrasek, T. Liehr, 2018, Molecular Cytogenetics.

A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotype.

T. Liehr, O. Zuffardi, A. Vetro, 2014, Gene.

Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: molecular cytogenetic analysis, fetal pathology and review of the literature.

T. Liehr, A. Konstantinidou, S. Sifakis, 2014, Birth defects research. Part A, Clinical and molecular teratology.

17p13.1 Microduplication Syndrome in a Child, Familial Short Stature, and Growth Hormone Deficiency: A Case Report and Review of the Literature

E. Manolakos, A. Fotinou, S. Michalacos, 2018, Molecular Syndromology.

First trimester diagnosis of 13q-syndrome associated with increased fetal nuchal translucency thickness. Clinical findings and systematic review.

P. Peitsidis, M. Eleftheriades, A. Vetro, 2012, Clinical and experimental obstetrics & gynecology.

Prenatal diagnosis of 1p34.3 interstitial microdeletion by aCGH in a fetus with jaw bone abnormalities

I. Papoulidis, E. Siomou, E. Papageorgiou, 2016, 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

T. Liehr, M. Petersen, G. Kitsos, 2008, Molecular Cytogenetics.

Sonographic antenatal diagnosis of congenital dacryocystoceles

P. Peitsidis, E. Manolakos, S. Sotiriou, 2012, Journal of clinical ultrasound : JCU.

A fetus with ring chromosome 21 characterized by aCGH shows no clinical findings after birth

T. Liehr, O. Zuffardi, A. Vetro, 2010, Prenatal diagnosis.

Interstitial deletion at 11q14.2-11q22.1 may cause severe learning difficulties, mental retardation and mild heart defects in 13-year old male

S. Sifakis, I. Papoulidis, E. Siomou, 2015, Molecular Cytogenetics.

Prenatal diagnosis of two de novo 4q35-qter deletions characterized by array-CGH

A. Konstantinidou, O. Zuffardi, A. Vetro, 2013, Molecular Cytogenetics.

Maternal uniparental disomy of chromosome 4 and homozygous novel mutation in the WFS1 gene in a paediatric patient with Wolfram syndrome.

F. Urano, I. Papoulidis, S. Orrù, 2015, Diabetes & metabolism.

Characterization of 23 small supernumerary marker chromosomes detected at pre-natal diagnosis: The value of fluorescence in situ hybridization.

T. Liehr, S. Kitsiou‐Tzeli, M. Petersen, 2010, Molecular medicine reports.

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

T. Liehr, S. Kitsiou‐Tzeli, S. Orrù, 2009, Molecular Cytogenetics.

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

T. Liehr, S. Kitsiou‐Tzeli, S. Orrù, 2009, Molecular Cytogenetics.

Novel Hemizygous Missense Variant of Spermine Synthase (SMS) Gene Causes Snyder-Robinson Syndrome in a Four-Year-Old Boy

I. Papoulidis, E. Manolakos, A. Ververi, 2021, Molecular Syndromology.

Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases

C. Sismani, P. Patsalis, K. Tsangaras, 2019, Molecular Cytogenetics.

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

S. Kitsiou‐Tzeli, M. Petersen, A. Papadopoulou, 2011, Molecular Cytogenetics.

7q Deletion/12q Duplication Is the Possible Cause of an Alobar Holoprosencephaly Case

E. Manolakos, S. Sotiriou, N. Vrachnis, 2017, Molecular Syndromology.

A novel heterozygous mutation in the SLC5A2 gene causing severe glycosuria, mild failure to thrive, and subclinical hypoglycemia

G. Mastorakos, I. Papoulidis, E. Manolakos, 2021, Journal of diabetes.

Parental origin of deletions and duplications – about the necessity to check for cryptic inversions

A. Dufke, K. Mrasek, T. Liehr, 2018, Molecular Cytogenetics.

Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome)

M. Petersen, P. Peitsidis, G. Kitsos, 2009, Molecular Cytogenetics.

Tetrasomy 9p Mosaicism Associated with a Normal Phenotype in Two Cases

T. Liehr, I. Papoulidis, S. Orrù, 2012, Cytogenetic and Genome Research.

Trisomy 18 after assiduous prenatal diagnosis mimicking molar pregnancy: a case

I. Papoulidis, E. Manolakos, C. Sofoudis, 2020 .

Proximal 10q duplication in a child with severe central hypotonia characterized by array-comparative genomic hybridization: A case report and review of the literature

T. Liehr, O. Zuffardi, G. Kitsos, 2014, Experimental and therapeutic medicine.

Recurrent short rib polydactyly syndrome

A. Konstantinidou, M. Eleftheriades, D. Hassiakos, 2013, Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology.

A novel familial mutation associated with Treacher Collins syndrome: A case report.

I. Papoulidis, E. Papageorgiou, E. Manolakos, 2020, Biomedical reports.

Prenatal diagnosis of a fetus with 7q11.23 deletion detected by multiplex ligation‐dependent probe amplification (MLPA) screening

E. Anastasiadou, H. Kontos, S. Orrù, 2008, Prenatal diagnosis.

A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus

E. Manolakos, F. Urano, A. Papadimitriou, 2019, Clinical case reports.

The Effect of Resolution Level and Targeted Design in the Diagnostic Performance of Prenatal Chromosomal Microarray Analysis

I. Papoulidis, A. Sotiriadis, E. Papageorgiou, 2023, Fetal Diagnosis and Therapy.

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

I. Papoulidis, E. Papageorgiou, E. Manolakos, 2015, Cytogenetic and Genome Research.

Tetrasomy 9p Mosaicism Associated with a Normal Phenotype in Two Cases

I. Papoulidis, E. Manolakos, J. Kunz, 2012, Cytogenetic and Genome Research.