نتائج البحث - "Fylaktou, Irene"

المصدر: Fylaktou , I , Megremis , S , Mitsioni , A , Kitsiou-Tzeli , S , Kosma , K , Bitsori , M , Stefanidis , C J , Kanavakis , E & Synodinos , J T 2013 , ' Novel and known nephrin gene (NPHS1) mutations in two Greek cases with congenital nephrotic syndrome including a complex genotype ' , Journal of Genetics , vol. 92 , no. 3 , pp. 577-581 . https://doi.org/10.1007/s12041-013-0290-7

مصطلحات موضوعية: congenital nephrotic syndrome, genetic disease, kidney, nephrin, nephrotic syndrome, NPHS1

الاتاحة: https://research.manchester.ac.uk/en/publications/bb1f32f6-abf9-4f1d-9796-c6fcc61b81a8
https://doi.org/10.1007/s12041-013-0290-7
http://www.springerlink.com/content/120421/

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14

Academic Journal

Broad and unexpected phenotypic expression in Greek children with steroid-resistant nephrotic syndrome due to mutations in the Wilms' tumor 1 (WT1) gene

المؤلفون: Megremis, Spyridon, Mitsioni, Andromachi, Fylaktou, Irene, Tzeli, Sofia Kitsiou, Komianou, Filadelfia, Stefanidis, Constantinos J., Kanavakis, Emmanuel, Traeger-Synodinos, Joanne

المصدر: Megremis , S , Mitsioni , A , Fylaktou , I , Tzeli , S K , Komianou , F , Stefanidis , C J , Kanavakis , E & Traeger-Synodinos , J 2011 , ' Broad and unexpected phenotypic expression in Greek children with steroid-resistant nephrotic syndrome due to mutations in the Wilms' tumor 1 (WT1) gene ' , European Journal of Pediatrics , vol. 170 , no. 12 , pp. 1529-1534 . https://doi.org/10.1007/s00431-011-1450-5

مصطلحات موضوعية: FSGS, Genotype, Mutation, Phenotype, SRNS, WT1

الاتاحة: https://research.manchester.ac.uk/en/publications/e7fbb7f7-7136-4f6a-88f7-0ade7d3661f3
https://doi.org/10.1007/s00431-011-1450-5

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15

Academic Journal

Successful long-term immunologic reconstitution by allogeneic hematopoietic stem cell transplantation cures patients with autosomal dominant hyper-IgE syndrome

المؤلفون: Goussetis, Evgenios, Peristeri, Ioulia, Kitra, Vasiliki, Traeger-Synodinos, Joanne, Theodosaki, Maria, Psarra, Katerina, Kanariou, Maria, Tzortzatou-Stathopoulou, Fotini, Petrakou, Eftichia, Fylaktou, Irene, Kanavakis, Emmanuel, Graphakos, Stelios

المصدر: Journal of Allergy and Clinical Immunology ; volume 126, issue 2, page 392-394 ; ISSN 0091-6749

الاتاحة: http://dx.doi.org/10.1016/j.jaci.2010.05.005
https://api.elsevier.com/content/article/PII:S0091674910007396?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0091674910007396?httpAccept=text/plain

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16

Academic Journal

Nucleotide variations in the NPHS2 gene in Greek children with steroid-resistant nephrotic syndrome.

المؤلفون: Megremis, Spyridon, Mitsioni, Andromachi, Mitsioni, Artemis G., Fylaktou, Irene, Kitsiou-Tzelli, Sofia, Stefanidis, Constantinos J., Kanavakis, Emmanuel, Traeger-Synodinos, Joanne

المصدر: Megremis , S , Mitsioni , A , Mitsioni , A G , Fylaktou , I , Kitsiou-Tzelli , S , Stefanidis , C J , Kanavakis , E & Traeger-Synodinos , J 2009 , ' Nucleotide variations in the NPHS2 gene in Greek children with steroid-resistant nephrotic syndrome. ' , Genetic Testing and Molecular Biomarkers , vol. 13 , no. 2 , pp. 249-256 . https://doi.org/10.1089/gtmb.2008.0083

الاتاحة: https://research.manchester.ac.uk/en/publications/3a37b07a-dfd3-41d1-b9b0-58ac08a6f169
https://doi.org/10.1089/gtmb.2008.0083

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17

Academic Journal

Hb Souli, a 6 bp In-Frame Deletion on the HBA2 Gene ( HBA2: c.[41-46delCCTGGG]) Leads to α-Thalassemia Intermedia, When in Trans to a Single α-Globin Gene Deletion.

المؤلفون: Kattamis, Antonis, Delaporta, Polyxeni, Fylaktou, Irene, Vrettou, Christina, Kyriakopoulou, Dimitra, Stamoulakatou, Alexandra, Papassotiriou, Ioannis, Kanavakis, Emmanuel, Traeger-Synodinos, Jan

المصدر: Hemoglobin; Feb2015, Vol. 39 Issue 1, p55-57, 3p

مصطلحات موضوعية: BETA-Thalassemia, DELETION mutation, GENETIC disorders in children, HEMOGLOBIN polymorphisms, HEMATOLOGY, GENES

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