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1

Duplication of exons 3–10 of the HSD17B3 gene: A novel type of genetic defect underlying 17β-HSD-3 deficiency

Vassos Neocleous, Carolina Sismani, Christos Shammas, Elisavet Efstathiou, Angelos Alexandrou, Marios Ioannides, Maria Argyrou, Philippos C. Patsalis, Leonidas A. Phylactou, Nicos Skordis

Journal:

Year:

2012

Language:

english

File:

PDF, 1.12 MB

english, 2012

2

Endogenous TWIST expression and differentiation are opposite during human muscle development

Andrie Koutsoulidou, Nikolaos P. Mastroyiannopoulos, Denis Furling, James B. Uney, Leonidas A. Phylactou

Journal:

Year:

2011

Language:

english

File:

PDF, 1.52 MB

english, 2011

3

Endocrine profile and phenotype-genotype correlation in unrelated patients with non-classical congenital adrenal hyperplasia

Nicos Skordis, Christos Shammas, Elisavet Efstathiou, Katerina Kaffe, Vassos Neocleous, Leonidas A. Phylactou

Journal:

Clinical Biochemistry

Year:

2011

Language:

english

File:

PDF, 167 KB

english, 2011

4

A family with Camurati-Engelman disease: the role of the missense p.R218C mutation in TGFbeta1 in bones and endocrine glands

Toumba, Meropi, Neocleous, Vassos, Shammas, Christos, Anastasiadou, Violetta, Allgrove, Jeremy, Phylactou, Leonidas A., Skordis, Nicos

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2013

Language:

english

File:

PDF, 1.59 MB

english, 2013

5

iCLIP identifies novel roles for SAFB1 in regulating RNA processing and neuronal function

Rivers, Caroline, Idris, Jalilah, Scott, Helen, Rogers, Mark, Lee, Youn-Bok, Gaunt, Jessica, Phylactou, Leonidas, Curk, Tomaz, Campbell, Colin, Ule, Jernej, Norman, Michael, Uney, James B.

Journal:

Year:

2015

Language:

english

File:

PDF, 2.72 MB

english, 2015

6

Assessing adenoviral hammerhead ribozyme and small hairpin RNA cassettes in neurons: Inhibition of endogenous caspase-3 activity and protection from apoptotic cell death

Ioannis Bantounas, Colin P.J. Glover, Stephen Kelly, Sachiko Iseki, Leonidas A. Phylactou, James B. Uney

Journal:

Journal of Neuroscience Research

Year:

2005

Language:

english

File:

PDF, 276 KB

english, 2005

7

Rare mutations in the CYP21A2 gene detected in congenital adrenal hyperplasia

Vassos Neocleous, Yiannis S. Ioannou, Margarita Bartsota, Constandina Costi, Nicos Skordis, Leonidas A. Phylactou

Journal:

Clinical Biochemistry

Year:

2009

Language:

english

File:

PDF, 135 KB

english, 2009

8

Expression of miR-1, miR-133a, miR-133b and miR-206 increases during development of human skeletal muscle

Andrie Koutsoulidou, Nikolaos P Mastroyiannopoulos, Denis Furling, James B Uney, Leonidas A Phylactou

Journal:

BMC Developmental Biology

Year:

2011

Language:

english

File:

PDF, 2.41 MB

english, 2011

9

Twist induces reversal of myotube formation

Eleni Hjiantoniou, Mustafa Anayasa, Paschalis Nicolaou, Ioannis Bantounas, Masahiro Saito, Sachiko Iseki, James B. Uney, Leonidas A. Phylactou

Journal:

Differentiation

Year:

2008

Language:

english

File:

PDF, 1.73 MB

english, 2008

10

Twist is required for establishment of the mouse coronal suture

Toshiyuki Yoshida, Leonidas A. Phylactou, James B. Uney, Isao Ishikawa, Kazuhiro Eto, Sachiko Iseki

Journal:

Journal of Anatomy

Year:

2005

Language:

english

File:

PDF, 236 KB

english, 2005

11

Ribozyme-mediated trans-splicing of a trinucleotide repeat

Phylactou, Leonidas A., Darrah, Charlotte, Wood, Matthew J.A.

Journal:

Nature Genetics

Year:

1998

File:

PDF, 759 KB

1998

12

Woodchuck post-transcriptional element induces nuclear export of myotonic dystrophy 3′ untranslated region transcripts

Mastroyiannopoulos, Nikolaos P, Feldman, Mariana L, Uney, James B, Mahadevan, Mani S, Phylactou, Leonidas A

Journal:

Year:

2005

Language:

english

File:

PDF, 204 KB

english, 2005

13

Cationic star homo- and co-polymers for gene delivery

Theoni K. Georgiou, Mark A. Ward, Phillip Knight, Maria D. Rikkou, Maria Vamvakaki, Edna N. Yamasaki, Leonidas A. Phylactou, Costas S. Patrickios

Journal:

Drug Discovery Today

Year:

2010

Language:

english

File:

PDF, 70 KB

english, 2010

14

Identification and characterization of a novel X-linked AVPR2 mutation causing partial nephrogenic diabetes insipidus: A case report and review of the literature

Vassos Neocleous, Nicos Skordis, Christos Shammas, Elisavet Efstathiou, Nikolaos P. Mastroyiannopoulos, Leonidas A. Phylactou

Journal:

Year:

2012

Language:

english

File:

PDF, 719 KB

english, 2012

15

Ribozyme and peptide–nucleic acid-based gene therapy

Leonidas A Phylactou

Journal:

Advanced Drug Delivery Reviews

Year:

2000

Language:

english

File:

PDF, 370 KB

english, 2000

16

Towards an RNA-based therapy for Marfan syndrome

Michael W Kilpatrick, Leonidas A. Phylactou

Journal:

Molecular Medicine Today

Year:

1998

Language:

english

File:

PDF, 371 KB

english, 1998

17

Recipes for ribozyme therapy: Therapeutic Applications of Ribozymes edited by K.J. Scanlon

Leonidas A. Phylactou

Journal:

Molecular Medicine Today

Year:

1999

Language:

english

File:

PDF, 291 KB

english, 1999

18

Hammerhead Ribozymes Targeted to the FBN1 mRNA Can Discriminate a Single Base Mismatch between Ribozyme and Target

Leonidas A. Phylactou, Petros Tsipouras, Michael W. Kilpatrick

Journal:

Biochemical and Biophysical Research Communications

Year:

1998

Language:

english

File:

PDF, 644 KB

english, 1998

19

Restoration of protein synthesis in pancreatic cancer cells by trans-splicing ribozymes

Evdokia Kastanos, Eleni Hjiantoniou, Leonidas A. Phylactou

Journal:

Biochemical and Biophysical Research Communications

Year:

2004

Language:

english

File:

PDF, 979 KB

english, 2004

20

The effect of myotonic dystrophy transcript levels and location on muscle differentiation

Nikolaos P. Mastroyiannopoulos, Elina Chrysanthou, Tassos C. Kyriakides, James B. Uney, Mani S. Mahadevan, Leonidas A. Phylactou

Journal:

Biochemical and Biophysical Research Communications

Year:

2008

Language:

english

File:

PDF, 522 KB

english, 2008

21

Cationic star polymer siRNA transfectants interconnected with a piperazine-based cationic cross-linker

Kyriaki S. Pafiti, Costas S. Patrickios, Theoni K. Georgiou, Edna N. Yamasaki, Nikolaos P. Mastroyiannopoulos, Leonidas A. Phylactou

Journal:

European Polymer Journal

Year:

2012

Language:

english

File:

PDF, 464 KB

english, 2012

22

Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Greek Cypriot population

Vassos Neocleous, George Portides, Violetta Anastasiadou, Leonidas A. Phylactou

Journal:

International Journal of Pediatric Otorhinolaryngology

Year:

2006

Language:

english

File:

PDF, 171 KB

english, 2006

23

DNazyme-mediated cleavage of Twist transcripts and increase in cellular apoptosis

Eleni Hjiantoniou, Sachiko Iseki, James B Uney, Leonidas A Phylactou

Journal:

Biochemical and Biophysical Research Communications

Year:

2003

Language:

english

File:

PDF, 183 KB

english, 2003

24

Reverse-hybridization assay for rapid detection of common CYP21A2 mutations in dried blood spots from newborns with elevated 17-OH progesterone

Stefan Németh, Stefan Riedl, Gernot Kriegshäuser, Sabina Baumgartner-Parzer, Paola Concolino, Vassos Neocleous, Leonidas A. Phylactou, Maryla Borucka-Mankiewicz, Hüseyin Onay, Ajlan Tukun, Christian O

Journal:

Clinica Chimica Acta

Year:

2012

Language:

english

File:

PDF, 354 KB

english, 2012

25

Tackling the pathogenesis of RNA nuclear retention in myotonic dystrophy

Nikolas P. Mastroyiannopoulos, Christos Shammas, Leonidas A. Phylactou

Journal:

Biology of the Cell

Year:

2010

Language:

english

File:

PDF, 284 KB

english, 2010

26

The Application of Ribozymes and DNAzymes in Muscle and Brain

Mastroyiannopoulos, Nikolaos P., Uney, James B., Phylactou, Leonidas A.

Journal:

Year:

2010

Language:

english

File:

PDF, 113 KB

english, 2010

27

Overview of Genetic Defects in Endocrinopathies in the Island of Cyprus; Evidence of a Founder Effect

Shammas, Christos, Neocleous, Vassos, Toumba, Meropi, Costi, Constantina, Phedonos, Alexia A.P., Efstathiou, Elisavet, Kyriakou, Andreas, Phylactou, Leonidas A., Skordis, Nicos

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2012

Language:

english

File:

PDF, 205 KB

english, 2012

28

A report of 2 new cases of MODY2 and review of the literature: Implications in the search for type 2 Diabetes drugs

Shammas, Christos, Neocleous, Vassos, Phelan, Marie M., Lian, Lu-Yun, Skordis, Nicos, Phylactou, Leonidas A.

Journal:

Year:

2013

Language:

english

File:

PDF, 1.67 MB

english, 2013

29

Synthesis, Characterization, and Evaluation as Transfection Reagents of Double-Hydrophilic Star Copolymers: Effect of Star Architecture

Georgiou, Theoni K., Vamvakaki, Maria, Phylactou, Leonidas A., Patrickios, Costas S.

Journal:

Biomacromolecules

Year:

2005

Language:

english

File:

PDF, 170 KB

english, 2005

30

Synthesis, Characterization, and Evaluation as Transfection Reagents of Ampholytic Star Copolymers: Effect of Star Architecture

Georgiou, Theoni K., Phylactou, Leonidas A., Patrickios, Costas S.

Journal:

Biomacromolecules

Year:

2006

Language:

english

File:

PDF, 151 KB

english, 2006

31

High Frequency of 35delG GJB2 Mutation and Absence of del( GJB6-D13S1830 ) in Greek Cypriot Patients with Nonsyndromic Hearing Loss

Neocleous, Vassos, Aspris, Andreas, Shahpenterian, Vasken, Nicolaou, Vassos, Panagi, Charalambos, Ioannou, Ioannis, Kyamides, Yiannis, Anastasiadou, Violetta, Phylactou, Leonidas A.

Journal:

Genetic Testing

Year:

2006

Language:

english

File:

PDF, 145 KB

english, 2006

32

Hydrophilic Cationic Star Homopolymers Based on a Novel Diethanol- N -Methylamine Dimethacrylate Cross-Linker for siRNA Transfection: Synthesis, Characterization, and Evaluation

Pafiti, Kyriaki S., Mastroyiannopoulos, Nikolaos P., Phylactou, Leonidas A., Patrickios, Costas S.

Journal:

Biomacromolecules

Year:

2011

Language:

english

File:

PDF, 2.87 MB

english, 2011

33

Nanoscopic Cationic Methacrylate Star Homopolymers: Synthesis by Group Transfer Polymerization, Characterization and Evaluation as Transfection Reagents

Georgiou, Theoni K., Vamvakaki, Maria, Patrickios, Costas S., Yamasaki, Edna N., Phylactou, Leonidas A.

Journal:

Biomacromolecules

Year:

2004

Language:

english

File:

PDF, 126 KB

english, 2004

34

miR-186 Inhibits Muscle Cell Differentiation through Myogenin Regulation

Antoniou, Antonis, Mastroyiannopoulos, Nikolaos P., Uney, James B., Phylactou, Leonidas A.

Journal:

Journal of Biological Chemistry

Year:

2014

Language:

english

File:

PDF, 4.28 MB

english, 2014

35

Spectrum ofGJB2mutations in Cypriot nonsyndromic hearing loss subjects

NEOCLEOUS, VASSOS, COSTI, CONSTANTINA, SHAMMAS, CHRISTOS, SPANOU, ELENA, ANASTASIADOU, VIOLETTA, TANTELES, GEORGE A., PHYLACTOU, LEONIDAS A.

Journal:

Journal of Genetics

Year:

2014

Language:

english

File:

PDF, 2.82 MB

english, 2014

36

A family with Camurati-Engelman disease. The role of the missense p.R218C mutation in TGFB1 in bones and endocrine glands

Toumba, Meropi, Neocleous, Vassos, Shammas, Christos, Anastasiadou, Violetta, Allgrove, Jeremy, Phylactou, Leonidas A., Skordis, Nicos

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2013

Language:

english

File:

PDF, 1.88 MB

english, 2013

37

Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4–11

Neocleous, Vassos, Yiallouros, Panayiotis K., Tanteles, George A., Costi, Constantina, Moutafi, Maria, Ioannou, Phivos, Patsalis, Philippos C., Sismani, Carolina, Phylactou, Leonidas A.

Journal:

Case Reports in Genetics

Year:

2014

Language:

english

File:

PDF, 507 KB

english, 2014

38

Twist reverses muscle cell differentiation through transcriptional down-regulation of myogenin

Mastroyiannopoulos, Nikolaos P., Antoniou, Antonis A., Koutsoulidou, Andrie, Uney, James B., Phylactou, Leonidas A.

Journal:

Bioscience Reports

Year:

2013

Language:

english

File:

PDF, 1.04 MB

english, 2013

39

Genetic screening ofEXT1andEXT2in Cypriot families with hereditary multiple osteochondromas

TANTELES, GEORGE A., NICOLAOU, MICHAEL, NEOCLEOUS, VASSOS, SHAMMAS, CHRISTOS, LOIZIDOU, MARIA A., ALEXANDROU, ANGELOS, ELLINA, ELENA, PATSIA, NASIA, SISMANI, CAROLINA, PHYLACTOU, LEONIDAS A., CHRISTOP

Journal:

Journal of Genetics

Year:

2015

Language:

english

File:

PDF, 1.01 MB

english, 2015

40

In silico analysis of a novel MKRN3 missense mutation in familial central precocious puberty

Neocleous, Vassos, Shammas, Christos, Phelan, Marie M., Nicolaou, Stella, Phylactou, Leonidas A., Skordis, Nicos

Journal:

Clinical Endocrinology

Year:

2016

Language:

english

File:

PDF, 315 KB

english, 2016

41

Preimplantation Genetic Diagnosis in Marfan Syndrome

Kilpatrick, Michael W., Harton, Gary L., Phylactou, Leonidas A., Levinson, Gene, Fugger, Edward F., Schulman, Joseph D., Black, Susan H., Tsipouras, Petros

Journal:

Fetal Diagnosis and Therapy

Year:

1996

File:

PDF, 1.53 MB

1996

42

A novelMKRN3nonsense mutation causing familial central precocious puberty

Christoforidis, Athanasios, Skordis, Nicos, Fanis, Pavlos, Dimitriadou, Meropi, Sevastidou, Maria, Phelan, Marie M., Neocleous, Vassos, Phylactou, Leonidas A.

Journal:

Endocrine (Springer)

Year:

2017

Language:

english

File:

PDF, 360 KB

english, 2017

43

CDKN2AandMC1Rvariants found in Cypriot patients diagnosed with cutaneous melanoma

KOULERMOU, GEORGIA, SHAMMAS, CHRISTOS, VASSILIOU, ANDREAS, KYRIAKIDES, TASSOS C., COSTI, CONSTANTINA, NEOCLEOUS, VASSOS, PHYLACTOU, LEONIDAS A., PANTELIDOU, MARIA

Journal:

Journal of Genetics

Year:

2017

Language:

english

File:

PDF, 157 KB

english, 2017

44

Successful use of tocilizumab in two cases of severe autoinflammatory disease with a single copy of the Mediterranean fever gene

Nikiphorou, Elena, Neocleous, Vassos, Phylactou, Leonidas A., Psarelis, Savvas

Journal:

Year:

2017

Language:

english

File:

PDF, 80 KB

english, 2017

45

[Methods in Enzymology] Antisense Technology Part A: General Methods, Methods of Delivery, and RNA Studies Volume 313 || Utilization of properties of natural catalytic RNA to design and synthesize functional ribozymes

Phylactou, Leonidas A.

Year:

2000

Language:

english

File:

PDF, 2.47 MB

english, 2000

46

Selection and Identification of Skeletal-Muscle-Targeted RNA Aptamers

Philippou, Styliana, Mastroyiannopoulos, Nikolaos P., Makrides, Neoklis, Lederer, Carsten W., Kleanthous, Marina, Phylactou, Leonidas A.

Journal:

Molecular Therapy — Nucleic Acids

Year:

2018

Language:

english

File:

PDF, 3.03 MB

english, 2018

47

Variations in the 3′UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia

Neocleous, Vassos, Fanis, Pavlos, Toumba, Meropi, Phedonos, Alexia A. P., Picolos, Michalis, Andreou, Elena, Kyriakides, Tassos C., Tanteles, George A., Shammas, Christos, Phylactou, Leonidas A., Skor

Journal:

International Journal of Endocrinology

Year:

2017

Language:

english

File:

PDF, 2.14 MB

english, 2017

48

Special Issue—Towards Understanding the Mechanisms and Curing of Muscular Dystrophy Diseases

Phylactou, Leonidas

Journal:

Year:

2015

Language:

english

File:

PDF, 619 KB

english, 2015

49

A novel MC4R deletion coexisting with FTO and MC1R gene variants, causes severe early onset obesity

Neocleous, Vassos, Shammas, Christos, Phelan, Marie, Fanis, Pavlos, Pantelidou, Maria, Skordis, Nicos, Mantzoros, Christos, Phylactou, Leonidas, Toumba, Meropi

Journal:

Year:

2016

Language:

english

File:

PDF, 1.62 MB

english, 2016

50

Epidemiology of Type 1 diabetes mellitus in Cyprus: rising incidence at the dawn of the 21st century

Skordis, Nicos, Efstathiou, Elisavet, Kyriakides, Tassos C., Savvidou, Antria, Savva, Savvas C., Phylactou, Leonidas A., Shammas, Christos, Neocleous, Vassos

Journal:

Year:

2012

Language:

english

File:

PDF, 386 KB

english, 2012