Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Kiriaki Kekou"'
Autor:
Roser Pons, Christalena Sofocleus, Belén Pérez-Dueñas, Danae Veltra, Katerina Anagnostopoulou, Vasiliki Zouvelou, Helen Fryssira, Rafael Artuch, Elissavet Kollia, Anna Marcé-Grau, Manolis Bilanakis, Xaralabos Kokkinis, Loukia Apostolakopoulou, Filippo M. Santorelli, Judith Amstrong, Kiriaki Kekou, Rosa J. Torres, Eleftheria Kokkinou, Delia Yubero, Antonis Voutetakis, Ioannis Nikas, Zoi Dalivigka, Alfons Macaya
Publikováno v:
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Objective: Non-progressive genetic disorders may present with motor dysfunction resembling cerebral palsy (CP). Such patients are often characterized as CP mimics. The purpose of this work was to delineate the clinical manifestations and molecular fi
Autor:
Emmanuel Kanavakis, Constantinos Papadopoulos, Evangelia Kararizou, Kiriaki Kekou, George K. Papadimas, Panagiota Manta
Publikováno v:
Muscle & Nerve. 51:686-691
Introduction: Myotonic dystrophy type 2 (DM2) is an autosomal dominant inherited disorder with (CCTG)n repeat expansion in intron 1 of the CNBP gene. Methods: We studied the first 16 Greek DM2 patients who had undergone thorough evaluation. Results:
Autor:
Sofia Kitsiou, Ariadni Mavrou, Emmanouel Kanavakis, Helena Fryssira, Kiriaki Kekou, G. Konstantinidis, Christalena Sofocleous
Publikováno v:
Molecular and Cellular Probes. 29:71-73
In SMA, unusual findings such as deletions restricted only to SMN1 exon 8, inspite of honozygous SMN1 exons 7-8 deletions in the family, may obscure final diagnosis. Application of a modified PCR procedure allowed discrimination between a deletion or
Autor:
George Konstantinos, Papadimas, Kiriaki, Kekou, Constantinos, Papadopoulos, Evangelia, Kararizou, Emmanuel, Kanavakis, Panagiota, Manta
Publikováno v:
Musclenerve. 51(5)
Myotonic dystrophy type 2 (DM2) is an autosomal dominant inherited disorder with (CCTG)n repeat expansion in intron 1 of the CNBP gene.We studied the first 16 Greek DM2 patients who had undergone thorough evaluation.The age at diagnosis ranged from 3
Autor:
Ariadni Mavrou, Lina Florentin, Catherine Metaxotou, Helen N Skouteli, Dimitrios I Zafiriou, Sotiris Youroukos, Kiriaki Kekou
Publikováno v:
European Journal of Human Genetics. 7:179-187
The distal part of the human dystrophin gene is characterised by particular features and seems to play an important functional role. Additionally in recent years several data have implicated minor mutations in this gene region in some patients with m
Publikováno v:
Human Mutation. 11:S209-S212
the disease in these patients is of great clinical importance and ,can lead to accurate carrier detection and prenatal diagnosis in these families. Furthermore, phenotype-genotype correlations in these patients may help us understand the mechanism of
Autor:
Helena Fryssira, Ariadni Mavrou, Christalena Sophocleous, Kiriaki Kekou, Catherine Metaxotou, Panagiota Manta
Publikováno v:
Molecular and Cellular Probes. 19:422-424
Although the facioscapulohumeral muscular dystrophy (FSHD) locus was mapped to 4q35 chromosomal region in 1990, no gene transcript has been as yet identified. Molecular diagnosis is based mainly on the detection of deletions of a 3.3 kb-tandem repeat
Autor:
Lina Florentin, Nicolaos Tripodis, Chrysanthy Bili, Ariadni Mavrou, Catherine Metaxotou, Kiriaki Kekou
Publikováno v:
Human Genetics. 96
A systematic study of 42 Greek DMD/BMD families using 14 polymorphic markers that span the dystrophin gene was performed in order to assess the position and frequency of recombinants in the Greek population and to test whether "hot spots" of recombin
Publikováno v:
Molecular and Cellular Probes. 13:453-454
Three polymorphisms were identified in the dystrophin gene using the polymerase chain reaction (PCR) and single strand conformation analysis (SSCA). Two of them (in intron 3) were reported for the first time while the third (in intron 43) is of inter
Autor:
Dionisios Antonatos, Emmanuel Kanavakis, Anastasios Andrikou, Panagiotis Douvaras, Kiriaki Kekou, Sotirios Patsilinakos, George Chouliaras, Apostolos Christou
Publikováno v:
European Journal of Heart Failure Supplements. 7:60-60
Objectives: Vascular endothelial growth factor (VEGF) is upregulated in vivoin the ischemic human myocardium. Since several polymorphisms have been shown to influence VEGF expression, we evaluated the contribution of such polymorphisms to the clinica