Read more about the article De novo mosaic mutation in a female with Rett syndrome.
A rolled newspaper - the left side facing forward. The name of the newspaper is "News" and the words "News" and "Events" are below that. The rubber band keeping the newspaper rolled together is thick and white. There is smaller writing on the newspaper which cannot be read.

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 syndrome severity in females depends on mosaicism…

Continue ReadingDe novo mosaic mutation in a female with Rett syndrome.
Read more about the article GnRH-dependent precocious puberty manifested at the age of 14 months in a girl with 47,XXX karyotype
A rolled newspaper - the left side facing forward. The name of the newspaper is "News" and the words "News" and "Events" are below that. The rubber band keeping the newspaper rolled together is thick and white. There is smaller writing on the newspaper which cannot be read.

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.
A rolled newspaper - the left side facing forward. The name of the newspaper is "News" and the words "News" and "Events" are below that. The rubber band keeping the newspaper rolled together is thick and white. There is smaller writing on the newspaper which cannot be read.

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…

Continue ReadingMultiple endocrine neoplasia 2 in Cyprus: evidence for a founder effect.
Read more about the article HIV-1 transmission networks across Cyprus (2010-2012)
A rolled newspaper - the left side facing forward. The name of the newspaper is "News" and the words "News" and "Events" are below that. The rubber band keeping the newspaper rolled together is thick and white. There is smaller writing on the newspaper which cannot be read.

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…

Continue ReadingHIV-1 transmission networks across Cyprus (2010-2012)
Read more about the article COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?
A rolled newspaper - the left side facing forward. The name of the newspaper is "News" and the words "News" and "Events" are below that. The rubber band keeping the newspaper rolled together is thick and white. There is smaller writing on the newspaper which cannot be read.

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,…

Continue ReadingCOL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?
Read more about the article Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia
A rolled newspaper - the left side facing forward. The name of the newspaper is "News" and the words "News" and "Events" are below that. The rubber band keeping the newspaper rolled together is thick and white. There is smaller writing on the newspaper which cannot be read.

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.
A rolled newspaper - the left side facing forward. The name of the newspaper is "News" and the words "News" and "Events" are below that. The rubber band keeping the newspaper rolled together is thick and white. There is smaller writing on the newspaper which cannot be read.

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 Eleven cases of sickle cell disease in Sydney.
A rolled newspaper - the left side facing forward. The name of the newspaper is "News" and the words "News" and "Events" are below that. The rubber band keeping the newspaper rolled together is thick and white. There is smaller writing on the newspaper which cannot be read.

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 three are of the sickle cell-thalassaemia disease.…

Continue ReadingEleven cases of sickle cell disease in Sydney.
Read more about the article The molecular basis for the haemoglobin Bart’s hydrops fetalis syndrome in Cyprus.
A rolled newspaper - the left side facing forward. The name of the newspaper is "News" and the words "News" and "Events" are below that. The rubber band keeping the newspaper rolled together is thick and white. There is smaller writing on the newspaper which cannot be read.

The molecular basis for the haemoglobin Bart’s hydrops fetalis syndrome in Cyprus.

Continue ReadingThe molecular basis for the haemoglobin Bart’s hydrops fetalis syndrome in Cyprus.
Read more about the article Molecular basis for mild forms of homozygous beta-thalassaemia.
A rolled newspaper - the left side facing forward. The name of the newspaper is "News" and the words "News" and "Events" are below that. The rubber band keeping the newspaper rolled together is thick and white. There is smaller writing on the newspaper which cannot be read.

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…

Continue ReadingMolecular basis for mild forms of homozygous beta-thalassaemia.