C. Shammas

发表

ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of β-thalassaemia

E. Kanavakis, G. Romeo, R. Galanello, 2010, Clinical chemistry and laboratory medicine.

NMR characterisation of a highly conserved secondary structural RNA motif of Halobacterium halobium 23S rRNA.

J. King, V. Ramesh, M. Lelli, 2013, Organic & biomolecular chemistry.

Familial Mediterranean Fever Associated with MEFV Mutations in a Large Cohort of Cypriot Patients

A. Pierides, A. Hadjipanayis, M. Koliou, 2015, Annals of human genetics.

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

G. Tanteles, T. Kyriakides, C. Shammas, 2017, International journal of endocrinology.

Genetic defects of the CYP21A2 gene in girls with premature adrenarche

C. Shammas, L. Phylactou, N. Skordis, 2015, Journal of Endocrinological Investigation.

Overview of genetic defects in endocrinopathies in the island of Cyprus; evidence of a founder effect.

C. Shammas, L. Phylactou, N. Skordis, 2012, Genetic testing and molecular biomarkers.

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

C. Shammas, L. Phylactou, N. Skordis, 2011, Clinical biochemistry.

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

C. Mantzoros, M. Phelan, C. Shammas, 2016, Hormones.

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

S. Savva, T. Kyriakides, C. Shammas, 2012, Hormones.

Evidence of digenic inheritance in autoinflammation-associated genes

A. Hadjipanayis, G. Tanteles, C. Shammas, 2016, Journal of Genetics.

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

M. Phelan, C. Shammas, L. Phylactou, 2016, Clinical endocrinology.

A systematic review of miRNAs as biomarkers for chemotherapy-induced cardiotoxicity in breast cancer patients reveals potentially clinically informative panels as well as key challenges in miRNA research

D. Fotiadis, A. Antoniades, G. Filippatos, 2022, Cardio-Oncology.

Phenotypic variability of hyperandrogenemia in females heterozygous for CYP21A2 mutations

C. Shammas, L. Phylactou, N. Skordis, 2014, Indian journal of endocrinology and metabolism.

Late diagnosis of 5alpha steroid-reductase deficiency due to IVS12A>G mutation of the SRD5a2 gene in an adolescent girl presented with primary amenorrhea

A. Sertedaki, C. Shammas, L. Phylactou, 2011, Hormones.

Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas

M. Loizidou, C. Sismani, G. Tanteles, 2015, Journal of Genetics.

Genomic Epidemiology of the SARS-CoV-2 Epidemic in Cyprus from November 2020 to October 2021: The Passage of Waves of Alpha and Delta Variants of Concern

P. Lemey, L. Kostrikis, P. Patsalis, 2022, Viruses.

Patient report

C. Shammas, L. Phylactou, V. Anastasiadou, 2013 .

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

C. Sismani, P. Patsalis, A. Alexandrou, 2012, Gene.

NMR structure of the peptidyl transferase RNA inhibitor antibiotic amicetin

V. Ramesh, C. Shammas, J. Donarski, 2007, Magnetic resonance in chemistry : MRC.

Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome

P. Vasudevan, G. Tanteles, M. Phelan, 2016, American journal of medical genetics. Part A.

Bifidobacterium Is Enriched in Gut Microbiome of Kashmiri Women with Polycystic Ovary Syndrome

A. Antoniades, I. Prokopenko, M. Kaakinen, 2019, bioRxiv.

CDKN2A and MC1R variants found in Cypriot patients diagnosed with cutaneous melanoma

T. Kyriakides, C. Shammas, L. Phylactou, 2017, Journal of Genetics.

Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation

M. Phelan, C. Shammas, C. Stylianou, 2016, Hormones.

Molecular Defects of the CYP21A2 Gene in Greek-Cypriot Patients with Congenital Adrenal Hyperplasia

P. Patsalis, V. Tardy, C. Shammas, 2010, Hormone Research in Paediatrics.

High carrier frequency of 21‐hydroxylase deficiency in Cyprus

C. Shammas, N. Skordis, V. Neocleous, 2013, Clinical genetics.

NMR and Molecular Modelling Studies of the Binding of Amicetin Antibiotic to Conserved Secondary Structural Motifs of 23S Ribosomal RNAs

V. Ramesh, C. Shammas, J. Donarski, 2006, The Journal of Antibiotics.

Intestinal microbiome analysis demonstrates azithromycin post-treatment effects improve when combined with lactulose

A. Antoniades, P. Vogazianos, I. Zakharova, 2019, World Journal of Pediatrics.

Evolution of prokaryotic colonisation of greenhouse plastics discarded into the environment.

M. Koutinas, R. Rosal, M. González-Pleiter, 2022, Ecotoxicology and environmental safety.

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

C. Shammas, L. Phylactou, V. Anastasiadou, 2013, Journal of pediatric endocrinology & metabolism : JPEM.

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

C. Shammas, L. Phylactou, V. Anastasiadou, 2013, Journal of pediatric endocrinology & metabolism : JPEM.

A report of 2 new cases of MODY2 and review of the literature: implications in the search for type 2 diabetes drugs.

L. Lian, M. Phelan, C. Shammas, 2013, Metabolism: clinical and experimental.

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

N. Mastroyiannopoulos, C. Shammas, L. Phylactou, 2012, Metabolism: clinical and experimental.

Spectrum of GJB2 mutations in Cypriot nonsyndromic hearing loss subjects

G. Tanteles, C. Shammas, L. Phylactou, 2014, Journal of Genetics.

Tackling the pathogenesis of RNA nuclear retention in myotonic dystrophy

C. Shammas, L. Phylactou, Nikolas P. Mastroyiannopoulos, 2010, Biology of the cell.

Effects of growth hormone on heart structure and function in adolescence.

A. Jossif, C. Shammas, N. Skordis, 2012, Georgian medical news.

Fecal Microbiota and Associated Volatile Organic Compounds Distinguishing No-Adenoma from High-Risk Colon Adenoma Adults

Aristos Aristodimou, A. Antoniades, J. Chi, 2023, Metabolites.

Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas

M. Loizidou, C. Sismani, G. Tanteles, 2015, Journal Genetika.

Evidence of digenic inheritance in autoinflammation-associated genes

A. Hadjipanayis, G. Tanteles, C. Shammas, 2016, Journal of Genetics.