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 mutation on gene, with random X-chromosome inactivation. Rett...
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...
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...
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...
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...
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...
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...
Eleven cases of sickle cell disease in Sydney.
Abstract
Eleven cases of sickle cell disease within the Sydney area are described. Eight of these are of homozygous sickle cell anaemia, and...
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...