Multiple endocrine neoplasia 2 in Cyprus: evidence for a founder effect von Fanis, P., Skordis, N., Frangos, S., Christopoulos, G., Spanou-Aristidou, E., Andreou, E., Manoli, P., Mavrommatis, M., Nicolaou, S., Kleanthous, M., Cariolou, M. A., Christophidou-Anastasiadou, V., Tanteles, G. A., Phylactou, L. A., Neocleous, V.

Volltext

High carrier frequency of 21-hydroxylase deficiency in Cyprus von Phedonos, AAP, Shammas, C, Skordis, N, Kyriakides, TC, Neocleous, V, Phylactou, LA

Volltext

Phenotype variability and different genotype of four patients with thyroid hormone resistance syndrome due to variants in the THRB gene von Toumba, M, Neocleous, V, Fanis, P, Tanteles, GA, Kyriakidou-Himonas, M, Picolos, M

Volltext

Genetic defects of the CYP21A2 gene in girls with premature adrenarche von Skordis, N., Shammas, C., Phedonos, A. A. P., Kyriakou, A., Toumba, M., Neocleous, V., Phylactou, L. A.

Volltext

RET proto-oncogene mutations are restricted to codon 618 in Cypriot families with multiple endocrine neoplasia 2 von Neocleous, V., Skordis, N., Portides, G., Efstathiou, E., Costi, C., Ioannou, N., Pantzaris, M., Anastasiadou, V., Deltas, C., Phylactou, L. A.

Volltext

Effects of growth hormone on heart structure and function in adolescence von Toumba, M, Neocleous, V, Shammas, C, Jossif, A, Skordis, N

Volltext

COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy von VOSKARIDES, Konstantinos, DAMIANOU, Loukas, PIERIDES, Alkis, KYRIACOU, Kyriacos, DELTAS, Constantinos, NEOCLEOUS, V Assos, ZOUVANI, Loanna, CHRISTODOULIDOU, Stalo, HADJICONSTANTINOU, Valsamakis, IOANNOU, Kyriacos, ATHANASIOU, Yiannis, PATSIAS, Charalampos, ALEXOPOULOS, Efstathios

Volltext

P025 Prevalence and clinical implications of the p.Cys1400Ter pathogenic CFTR mutation in Cyprus von Anagnostopoulou, P., Fanis, P., Kouis, P., Ioannou, P., Costi, K., Matthaiou, A., Adamidi, T., Phylactou, L., Neocleous, V., Yiallouros, P.

Volltext

Genetic defects in the cyp21a2 gene in heterozygous girls with premature adrenarche and adolescent females with hyperandrogenemia von Neocleous, V, Shammas, C, Phedonos, A P, Karaoli, E, Kyriakou, A, Toumba, M, Phylactou, L A, Skordis, N

Volltext

Cystic fibrosis mutational spectrum and genotypic/phenotypic features in Greek-Cypriots, with emphasis on dehydration as presenting symptom von Yiallouros, PK, Neocleous, V, Zeniou, M, Adamidou, T, Costi, C, Christophi, C, Tzetis, M, Kanavakis, E, Deltas, C

Volltext

WS03.4 Notable cystic fibrosis cases of Greek-Cypriot originwith rare or unique CFTR genotypes von Matthaiou, A.M., Anagnostopoulou, P., Kouis, P., Neocleous, V., Adamidi, T., Ioannou, P., Fanis, P., Costi, C., Georgiou, A., Phylactou, L.A., Yiallouros, P.K.

Volltext

P037 Cystic fibrosis in Cyprus: results from the national patients’ Registry von Matthaiou, A., Anagnostopoulou, P., Kouis, P., Neocleous, V., Adamidi, T., Ioannou, P., Fanis, P., Costi, C., Georgiou, A., Phylactou, L.A., Yiallouros, P.

Volltext

Chromosome 17p-linked myasthenias stem from defects in the acetylcholine receptor epsilon-subunit gene von Middleton, L, Ohno, K, Christodoulou, K, Brengman, J, Milone, M, Neocleous, V, Serdaroğlu, P, Deymeer, F, Ozdemir, C, Mubaidin, A, Horany, K, Al-Shehab, A, Mavromatis, I, Mylonas, I, Tsingis, M, Zamba, E, Pantzaris, M, Kyriallis, K, Engel, A G

Volltext

The IVS1- 2A>G mutation in the SRD5A2 gene predominates in Cypriot patients with 5α reductase deficiency von Skordis, N., Neocleous, V., Kyriakou, A., Efstathiou, E., Sertedaki, A., Philibert, P., Phylactou, L. A., Lumbroso, S., Sultan, C.

Volltext

Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas von TANTELES, GEORGE A., NICOLAOU, MICHAEL, NEOCLEOUS, VASSOS, SHAMMAS, CHRISTOS, LOIZIDOU, MARIA A., ALEXANDROU, ANGELOS, ELLINA, ELENA, PATSIA, NASIA, SISMANI, CAROLINA, PHYLACTOU, LEONIDAS A., CHRISTOPHIDOU-ANASTASIADOU, VIOLETTA

Volltext

Overview of genetic defects in endocrinopathies in the island of Cyprus; evidence of a founder effect von Shammas, Christos, Neocleous, Vassos, Toumba, Meropi, Costi, Constantina, Phedonos, Alexia A P, Efstathiou, Elisavet, Kyriakou, Andreas, Phylactou, Leonidas A, Skordis, Nicos

Volltext

Distal Hereditary Motor Neuronopathy of the Jerash Type von MIDDLETON, L. T., CHRISTODOULOU, K., MUBAIDIN, A., ZAMBA, E., TSINGIS, M., KYRIACOU, K., ABU-SHEIKH, S., KYRIAKIDES, T., NEOCLEOUS, V., GEORGIOU, D. M., EL-KHATEEB, M., AL-QUDAH, A., HORANY, K.

Volltext

Distal Hereditary Motor Neuronopathy of the Jerash Type von MIDDLETON, L. T., CHRISTODOULOU, K., MUBAIDIN, A., ZAMBA, E., TSINGIS, M., KYRIACOU, K., ABU-SHEIKH, S., KYRIAKIDES, T., NEOCLEOUS, V., GEORGIOU, D. M., EL-KHATEEB, M., AL-QUDAN, A., HORANY, K.

Volltext

Original Synthetic Report: Carrier frequencies of the common GJB2 (connexin-26) 35delG mutation in the Greek-Turkish area: predominance of the mutation in Crete von Yanakakisa, N, Diéterlen, F, Neocleous, V, Phylactou, LA, Lucotte, G

Volltext

The IVS1-2A>G mutation in the SRD5A2 gene predominates in Cypriot patients with 5α reductase deficiency von Skordis, N, Neocleous, V, Kyriakou, A, Efstathiou, E, Sertedaki, A, Philibert, P, Phylactou, L A, Lumbroso, S, Sultan, C

Volltext