Read more about the article Contribution of ghrelin to functional gastrointestinal disorders’ pathogenesis.
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Contribution of ghrelin to functional gastrointestinal disorders’ pathogenesis.

Abstract Functional gastrointestinal disorders (FGID) are heterogeneous disorders with a variety of clinical manifestations, primarily defined by signs and symptoms rather than a definite underlying cause. Their pathophysiology remains obscure…

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Read more about the article The future of paediatric and adolescent gynaecology in Europe.
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The future of paediatric and adolescent gynaecology in Europe.

Abstract Paediatric and Adolescent Gynaecology (PAG) is a subspecialty under the umbrella of Obstetrics and Gynaecology but linked to other branches of medicine including Paediatrics, Surgery, Endocrinology and Urology. Therefore…

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

Abstract This case report describes a 47,XXX girl who presented very early, at the age of 14 months, with signs of sexual precocity (breast and pubic hair development, menarche) and…

Continue ReadingGnRH-dependent precocious puberty manifested at the age of 14 months in a girl with 47,XXX karyotype
Read more about the article Multiple endocrine neoplasia 2 in Cyprus: evidence for a founder effect.
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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 cohort study refers to patients who were diagnosed with familial medullary thyroid carcinoma (MTC) and…

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Read more about the article HIV-1 transmission networks across Cyprus (2010-2012)
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HIV-1 transmission networks across Cyprus (2010-2012)

Abstract A molecular epidemiology study of HIV-1 infection was conducted in one hundred diagnosed and untreated HIV-1-infected patients in Cyprus between 2010 and 2012, representing 65.4% of all the reported…

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Read more about the article COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?
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COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?

Abstract BACKGROUND: About 40-50% of patients with familial microscopic hematuria (FMH) caused by thin basement membrane nephropathy (TBMN) inherit heterozygous mutations in collagen IV genes (COL4A3, COL4A4). On long follow-up,…

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

Abstract The GBA2 gene encodes the non-lysosomal glucosylceramidase (NLGase), an enzyme that catalyzes the conversion of glucosylceramide (GlcCer) to ceramide and glucose. Mutations in GBA2 have been associated with the…

Continue ReadingBiochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia
Read more about the article Molecular analysis of Cypriot families with aniridia reveals a novel PAX6 mutation.
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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 of 17 affected individuals from six families from Cyprus. Each proband was initially evaluated for…

Continue ReadingMolecular analysis of Cypriot families with aniridia reveals a novel PAX6 mutation.
Read more about the article Molecular basis for mild forms of homozygous beta-thalassaemia.
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Molecular basis for mild forms of homozygous beta-thalassaemia.

Abstract Five Cypriots homozygous for beta +-thalassaemia have inherited deletion or non-deletion forms of alpha-thalassaemia that seem to have modified the usually severe clinical picture to that of mild thalassaemia…

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Read more about the article Prevention of thalassaemia in Cyprus.
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Prevention of thalassaemia in Cyprus.

A programme for the prevention of beta-homozygous thalassaemia has been operating in Cyprus from 1973. From 1976 there has been an increasing gap between the number of homozygotes born and…

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