De novo mosaic mutation in a female with Rett syndrome.

Mol Med Rep. 2018 Aug;18(2):1623-1627. doi: 10.3892/mmr.2018.9126. Epub 2018 Jun 5. PubMed
PMID: 29901133; PubMed Central PMCID: PMC6072148.

Jun 22, 2019

Author information: Department of Cytogenetics and Genomics The Cyprus Institute of Neurology and Genetics Nicosia Cyprus. 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 level and tissue specificity, X-chromosome inactivation, epigenetics and environment. […]

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

Mol Med Rep. 2018 Aug;18(2):1623-1627. doi: 10.3892/mmr.2018.9126. Epub 2018 Jun 5. PubMed
PMID: 29901133; PubMed Central PMCID: PMC6072148.

Oct 19, 2018

Author information: Skordis N1,2,3, Ferrari E4, Antoniadou A4, Phylactou LA5, Fanis P5, Neocleous V5. Author information 1 Division of Pediatric Endocrinology, Paedi Center for Specialized Pediatrics, 178 Athalassas Ave., 2025, Nicosia, Cyprus. nicosskordis@paedi.org.cy. 2 St George’s, University of London Medical School at the University of Nicosia, Nicosia, Cyprus. nicosskordis@paedi.org.cy. 3 Department of Molecular Genetics, Function […]

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

Mol Med Rep. 2018 Aug;18(2):1623-1627. doi: 10.3892/mmr.2018.9126. Epub 2018 Jun 5. PubMed
PMID: 29901133; PubMed Central PMCID: PMC6072148.

Oct 19, 2018

Author information: Fanis P1, Skordis N1,2,3, Frangos S4, Christopoulos G5, Spanou-Aristidou E6, Andreou E7, Manoli P8, Mavrommatis M5,9, Nicolaou S10, Kleanthous M5,9, Cariolou MA8,9, Christophidou-Anastasiadou V6,11, Tanteles GA6, Phylactou LA12,13, Neocleous V14. Author information 1 Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, P.O. Box 23462, 1683, Nicosia, Cyprus. […]

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

Mol Med Rep. 2018 Aug;18(2):1623-1627. doi: 10.3892/mmr.2018.9126. Epub 2018 Jun 5. PubMed
PMID: 29901133; PubMed Central PMCID: PMC6072148.

Oct 19, 2018

Author information: Kostrikis LG1, Hezka J1, Stylianou DC1, Kostaki E2, Andreou M1, Kousiappa I1, Paraskevis D2, Demetriades I3. Author information 1 Department of Biological Sciences, University of Cyprus, Aglantzia, Nicosia, Cyprus. 2 Department of Hygiene, Epidemiology and Medical Statistics, Medical School, National and Kapodistrian University of Athens, Goudi, Athens, Greece. 3 AIDS Clinic, Larnaca General […]

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

Mol Med Rep. 2018 Aug;18(2):1623-1627. doi: 10.3892/mmr.2018.9126. Epub 2018 Jun 5. PubMed
PMID: 29901133; PubMed Central PMCID: PMC6072148.

Oct 19, 2018

Author information: Voskarides K1,2, Papagregoriou G3, Hadjipanagi D3, Petrou I3, Savva I3, Elia A4, Athanasiou Y5, Pastelli A6, Kkolou M6, Hadjigavriel M6, Stavrou C7, Pierides A3,8, Deltas C9,10. Author information 1 Molecular Medicine Research Center, Department of Biological Sciences, University of Cyprus, 1, University Avenue, 2109, Nicosia, Cyprus. kvoskar@ucy.ac.cy. 2 Medical School, University of Cyprus, […]

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

Mol Med Rep. 2018 Aug;18(2):1623-1627. doi: 10.3892/mmr.2018.9126. Epub 2018 Jun 5. PubMed
PMID: 29901133; PubMed Central PMCID: PMC6072148.

Oct 19, 2018

Author information: Malekkou A1,2, Samarani M3, Drousiotou A4,5, Votsi C6,7, Sonnino S8, Pantzaris M9,10, Chiricozzi E11, Zamba-Papanicolaou E12,13, Aureli M14, Loberto N15, Christodoulou K16,17. Author information 1 Biochemical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia 1683, Cyprus. annama@cing.ac.cy. 2 Cyprus School of Molecular Medicine, Nicosia 1683, Cyprus. annama@cing.ac.cy. 3 Department of Medical […]

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

Mol Med Rep. 2018 Aug;18(2):1623-1627. doi: 10.3892/mmr.2018.9126. Epub 2018 Jun 5. PubMed
PMID: 29901133; PubMed Central PMCID: PMC6072148.

Oct 19, 2018

Author information: Syrimis A1, Nicolaou N1, Alexandrou A2, Papaevripidou I2, Nicolaou M1, Loukianou E3, Sismani C2, Malas S4, Christophidou-Anastasiadou V1, Tanteles GA1. 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 copy number variants […]

Molecular basis for mild forms of homozygous beta-thalassaemia.

Mol Med Rep. 2018 Aug;18(2):1623-1627. doi: 10.3892/mmr.2018.9126. Epub 2018 Jun 5. PubMed
PMID: 29901133; PubMed Central PMCID: PMC6072148.

Aug 21, 2018

Author information: 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 intermedia. These observations have important implications for the antenatal diagnosis of beta-thalassaemia.

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

Mol Med Rep. 2018 Aug;18(2):1623-1627. doi: 10.3892/mmr.2018.9126. Epub 2018 Jun 5. PubMed
PMID: 29901133; PubMed Central PMCID: PMC6072148.

Aug 21, 2018

Eleven cases of sickle cell disease in Sydney.

Mol Med Rep. 2018 Aug;18(2):1623-1627. doi: 10.3892/mmr.2018.9126. Epub 2018 Jun 5. PubMed
PMID: 29901133; PubMed Central PMCID: PMC6072148.

Aug 21, 2018

Author information: 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. The racial origin is Lebanese Moslem in five cases, Greek from the mainland or Cyprus in four, and Portuguese, French, and Spanish in […]