Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Ludmila Kousoulidou"'
Autor:
Angelos Alexandrou, Nicole Salameh, Ioannis Papaevripidou, Nayia Nicolaou, Panayiotis Myrianthopoulos, Andria Ketoni, Ludmila Kousoulidou, Anna-Maria Anastasiou, Paola Evangelidou, George A. Tanteles, Carolina Sismani
Publikováno v:
Molecular Cytogenetics, Vol 16, Iss 1, Pp 1-7 (2023)
Abstract Background Hereditary multiple exostoses (HME) is an autosomal dominant skeletal disorder characterized by the development of multiple, circumscript and usually symmetric bony protuberances called osteochondromas. Most HME are caused by EXT1
Externí odkaz:
https://doaj.org/article/0a911331793b4b76a40738f99bf0e9cb
Autor:
Andrea Hadjipanteli, Athina Theodosiou, Ioannis Papaevripidou, Paola Evangelidou, Angelos Alexandrou, Nicole Salameh, Ioannis Kallikas, Kyriakos Kakoullis, Sofia Frakala, Christina Oxinou, Andreas Marnerides, Ludmila Kousoulidou, Violetta C. Anastasiadou, Carolina Sismani
Publikováno v:
Genes, Vol 15, Iss 1, p 119 (2024)
Voltage-gated sodium channels (VGSCs) are responsible for the initiation and propagation of action potentials in the brain and muscle. Pathogenic variants in genes encoding VGSCs have been associated with severe disorders including epileptic encephal
Externí odkaz:
https://doaj.org/article/7fb788278c354a93a919e6af5cb25aaa
Autor:
Pavlina Iliopoulou, Efstathios Tsitsopoulos, Ioannis Papaevripidou, Voula Velissariou, Dagmar Huhle, Maria Syrrou, Rozalia Neroutsou, Angelos Alexandrou, Stamatia-Maria Rapti, Monika Ziegler, Ludmila Kousoulidou, Marianna Robola, Sigrid Fuchs, Maja Hempel, Carolina Sismani, Athina Theodosiou, Max Duesberg, Magdalini Lagou, Thomas Liehr, Anastasia Spring
Publikováno v:
Journal of Human Genetics. 65:783-795
Pericentric inversions are among the known polymorphisms detected in the general population at a frequency of 1-2%. Despite their generally benign nature, pericentric inversions affect the reproductive potential of carriers by increasing the risk for
Autor:
Athina Theodosiou, Violetta Christophidou-Anastasiadou, Angelos Alexandrou, Ludmila Kousoulidou, Ioanna Alexandrou, George A. Tanteles, Carolina Sismani, Ioannis Papaevripidou, Paola Evangelidou
Publikováno v:
Clinical Case Reports
Key Clinical Message We describe a female with Rett syndrome carrying a rare de novo mosaic nonsense mutation on MECP2 gene, with random X‐chromosome inactivation. Rett syndrome severity in females depends on mosaicism level and tissue specificity,
Autor:
Angelos Alexandrou, Ioannis Papaevripidou, Paola Evangelidou, Violetta Anastasiadou, Carolina Sismani, Ludmila Kousoulidou, George A. Tanteles
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics. Part a
American Journal of Medical Genetics. Part a
Autor:
Zoe Kosmaidou-Aravidou, Carolina Sismani, Panagiota Grigori, Philippos C. Patsalis, Marios Ioannides, Christos Costalos, George Koumbaris, Elena Panayiotou, Ludmila Kousoulidou
Publikováno v:
European Journal of Medical Genetics. 54:365-368
We report on a 9-month old boy carrying a 21 Mb de novo 13q interstitial deletion. The imbalance was detected by chromosomal analysis and investigated by Fluorescence In Situ Hybridization (FISH) and Comparative Genomic Hybridization (array-CGH) usin
Publikováno v:
European Journal of Medical Genetics. 48:241-249
The development of accurate and sensitive methodologies to detect small chromosomal imbalances (
Autor:
Zoe Kosmaidou, George Stavrides, Christina Eftychi, Philippos C. Patsalis, Nicos Skordis, Carolina Sismani, Ludmila Kousoulidou, George Koumbaris, Sophia Kitsiou-Tzeli, Angeliki Galla-Voumvouraki, Charalambos G Hadjiathanasiou, Ken McElreavey, Antonis Ioulianos
Publikováno v:
American Journal of Medical Genetics Part A. :145-149
A mosaic karyotype consisting of a 45,X cell line and a second cell line containing a normal or an abnormal Y chromosome is relatively common and is associated with a wide spectrum of clinical phenotypes. The aim of this study was to investigate pati
Autor:
Ludmila Kousoulidou, Violetta Anastasiadou, Anna Paradesiotou, Paola Nicolaides, Christos Christofi, Stavros Hadjiloizou, Philippos C. Patsalis, Maria Moutafi, Carolina Sismani
Publikováno v:
BioMed Research International
BioMed Research International, Vol 2013 (2013)
BioMed Research International, Vol 2013 (2013)
Autism spectrum disorders (ASDs) comprise a distinct entity of neurodevelopmental disorders with a strong genetic component. Despite the identification of several candidate genes and causative genomic copy number variations (CNVs), the majority of AS
Autor:
Carolina Sismani, George A. Tanteles, Philippos C. Patsalis, Maria Moutafi, Violetta Anastasiadou, Ludmila Kousoulidou
Publikováno v:
European Journal of Medical Genetics
Pitt–Hopkins syndrome (PTHS) is a rare neurodevelopmental genetic disorder, remaining under-diagnosed due to similarities with other known genetic syndromes. It is mainly characterized by severe intellectual disability, overbreathing, a typical fac