+357 22 358 600

CONTACT@CSHG.ORG.CY

Expert consensus guidelines for the genetic diagnosis of Alport syndrome.

Expert consensus guidelines for the genetic diagnosis of Alport syndrome.

Abstract Recent expert guidelines recommend genetic testing for the diagnosis of Alport syndrome. Here, we…

A Novel BaEVRless-Pseudotyped γ-Globin Lentiviral Vector Drives High and Stable Fetal Hemoglobin Expression and Improves Thalassemic Erythropoiesis .

A Novel BaEVRless-Pseudotyped γ-Globin Lentiviral Vector Drives High and Stable Fetal Hemoglobin…

Abstract It has previously been demonstrated that the self-inactivating γ-globin lentiviral vector GGHI can significantly…

The future of paediatric and adolescent gynaecology in Europe.

The future of paediatric and adolescent gynaecology in Europe.

Abstract Paediatric and Adolescent Gynaecology (PAG) is a subspecialty under the umbrella of Obstetrics and…

Contribution of ghrelin to functional gastrointestinal disorders’ pathogenesis.

Contribution of ghrelin to functional gastrointestinal disorders’ pathogenesis.

Abstract Functional gastrointestinal disorders (FGID) are heterogeneous disorders with a variety of clinical manifestations, primarily…

Hypothesis, analysis and synthesis, it’s all Greek to me.

Hypothesis, analysis and synthesis, it’s all Greek to me.

Abstract The linguistic foundations of science and technology include many terms that have been borrowed…

Clinical course and outcome after kidney transplantation in patients with C3 glomerulonephritis due to CFHR5 nephropathy.

Clinical course and outcome after kidney transplantation in patients with C3 glomerulonephritis…

Abstract Complement factor H-related protein 5 (CFHR5) nephropathy is an inherited renal disease characterized by…

De novo mosaic  mutation in a female with Rett syndrome.

De novo mosaic mutation in a female with Rett syndrome.

Abstract We describe a female with Rett syndrome carrying a rare de novo mosaic nonsense…

Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy.

Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy.

Abstract Charcot-Marie-Tooth disease type 4C is the most common recessively inherited demyelinating neuropathy that results…

Intrafamilial Phenotype Variability in Two Male Siblings, With X-linked Juvenile Retinoschisis and Dorzolamide Treatment Effect in the Natural History of the Disease.

Intrafamilial Phenotype Variability in Two Male Siblings, With X-linked Juvenile Retinoschisis and…

Abstract To investigate how genotype is related to phenotype and document correlations of genotype-phenotype with…

Rare Opportunities: CRISPR/Cas-Based Therapy Development for Rare Genetic Diseases.

Rare Opportunities: CRISPR/Cas-Based Therapy Development for Rare Genetic Diseases.

Abstract Rare diseases pose a global challenge, in that their collective impact on health systems…

Disruptive Technology: CRISPR/Cas-Based Tools and Approaches.

Disruptive Technology: CRISPR/Cas-Based Tools and Approaches.

Abstract Designer nucleases are versatile tools for genome modification and therapy development and have gained…

A novel heterozygous duplication of the  gene in two Gitelman syndrome pedigrees: indicating a founder effect.

A novel heterozygous duplication of the gene in two Gitelman syndrome pedigrees:…

Abstract Gitelman syndrome is an autosomal recessive salt-wasting tubulopathy caused by mutations in the gene.…

Classic galactosaemia in the Greek Cypriot population: An epidemiological and molecular study.

Classic galactosaemia in the Greek Cypriot population: An epidemiological and molecular study.

Abstract Classic galactosaemia is an inherited metabolic disorder of galactose metabolism caused by deficiency of…

An investigation of polymorphisms in innate and adaptive immune response genes in canine leishmaniosis.

An investigation of polymorphisms in innate and adaptive immune response genes in…

Abstract The outcome of infection with Leishmania infantum in dogs is variable, which is thought…

A novel mutation in the erythroid transcription factor KLF1 is likely responsible for ameliorating β-thalassemia major.

A novel mutation in the erythroid transcription factor KLF1 is likely responsible…

Abstract We describe the identification of a novel missense mutation in the second zinc finger…

The role of C9orf72 in neurodegenerative disorders: a systematic review, an updated meta-analysis, and the creation of an online database.

The role of C9orf72 in neurodegenerative disorders: a systematic review, an updated…

Abstract A pathologic expansion of a noncoding GGGGCC hexanucleotide repeat of the C9orf72 gene has…

The impact of obesity and insulin resistance on thyroid cancer: A systematic review.

The impact of obesity and insulin resistance on thyroid cancer: A systematic…

Abstract In recent decades, there has been a marked increase in the prevalence of thyroid…

TNFRSF11A-associated dysosteosclerosis: a report of the second case and characterization of the phenotypic spectrum.

TNFRSF11A-associated dysosteosclerosis: a report of the second case and characterization of the…

Abstract Dysosteosclerosis (DOS) is a distinct form of sclerosing bone disease characterized by irregular osteosclerosis…

Complete sequence analysis of human toll-like receptor 3 gene in natural killer cells of multiple sclerosis patients.

Complete sequence analysis of human toll-like receptor 3 gene in natural killer…

Abstract Multiple sclerosis (MS) is a chronic demyelinating disease of the central nervous system (CNS)…

Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology.

Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology.

Abstract Circulating levels of adiponectin, an adipocyte-secreted protein associated with cardiovascular and metabolic risk, are…

Ageing Throughout History: The Evolution of Human Lifespan.

Ageing Throughout History: The Evolution of Human Lifespan.

Abstract It is not surprising that one of the most complex phenomena in nature is…

GnRH-dependent precocious puberty manifested at the age of 14 months in a girl with 47,XXX karyotype

GnRH-dependent precocious puberty manifested at the age of 14 months in a…

Abstract This case report describes a 47,XXX girl who presented very early, at the age…

Multiple endocrine neoplasia 2 in Cyprus: evidence for a founder effect.

Multiple endocrine neoplasia 2 in Cyprus: evidence for a founder effect.

Abstract PURPOSE: Multiple endocrine neoplasia type 2 (MEN2) affects patients with RET proto-oncogene mutations. This…

HIV-1 transmission networks across Cyprus (2010-2012)

HIV-1 transmission networks across Cyprus (2010-2012)

Abstract A molecular epidemiology study of HIV-1 infection was conducted in one hundred diagnosed and…

COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?

COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic…

Abstract BACKGROUND: About 40-50% of patients with familial microscopic hematuria (FMH) caused by thin basement…

Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia

Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from…

Abstract The GBA2 gene encodes the non-lysosomal glucosylceramidase (NLGase), an enzyme that catalyzes the conversion…

Molecular analysis of Cypriot families with aniridia reveals a novel PAX6 mutation.

Molecular analysis of Cypriot families with aniridia reveals a novel PAX6 mutation.

Abstract The present study investigated the clinical and mutational spectrum of aniridia in a cohort…

This is your Side Push Panel Sidebar!

Please add your sidebar widgets to this section from Appearance > Widgets (Side Push Panel Sidebar).