Zobrazeno 1 - 9 of 9 pro vyhledávání: '"George Tanteles"'
1
Akademický článek
Spinal muscular atrophy type I associated with a novel SMN1 splicing variant that disrupts the expression of the functional transcript
Autor: Christina Votsi, Pantelitsa Koutsou, Antonis Ververis, Anthi Georghiou, Paschalis Nicolaou, George Tanteles, Kyproula Christodoulou
Publikováno v: Frontiers in Neurology, Vol 14 (2023)
IntroductionSpinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by pathogenic variants in the SMN1 gene. The majority of SMA patients harbor a homozygous deletion of SMN1 exon 7 (95%). Heterozygosity for a convention
Externí odkaz: https://doaj.org/article/44eac44a52934898915d9f2f76e1325a
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2
Akademický článek
Mowat-Wilson syndrome: growth charts
Autor: Ivan Ivanovski, Olivera Djuric, Serena Broccoli, Stefano Giuseppe Caraffi, Patrizia Accorsi, Margaret P. Adam, Kristina Avela, Magdalena Badura-Stronka, Allan Bayat, Jill Clayton-Smith, Isabella Cocco, Duccio Maria Cordelli, Goran Cuturilo, Veronica Di Pisa, Juliette Dupont Garcia, Roberto Gastaldi, Lucio Giordano, Andrea Guala, Christina Hoei-Hansen, Mie Inaba, Alessandro Iodice, Jens Erik Klint Nielsen, Vladimir Kuburovic, Brissia Lazalde-Medina, Baris Malbora, Seiji Mizuno, Oana Moldovan, Rikke S. Møller, Petra Muschke, Valeria Otelli, Chiara Pantaleoni, Carmelo Piscopo, Maria Luisa Poch-Olive, Igor Prpic, Purificación Marín Reina, Federico Raviglione, Emilia Ricci, Emanuela Scarano, Graziella Simonte, Robert Smigiel, George Tanteles, Luigi Tarani, Aurelien Trimouille, Elvis Terci Valera, Samantha Schrier Vergano, Karin Writzl, Bert Callewaert, Salvatore Savasta, Maria Elisabeth Street, Lorenzo Iughetti, Sergio Bernasconi, Paolo Giorgi Rossi, Livia Garavelli
Publikováno v: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
Abstract Background Mowat–Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene. It is characterized by moderate-severe intellectual disability, epilepsy, Hirschsprung disease and
Externí odkaz: https://doaj.org/article/80124a98602c4794863224c650289c08
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3
Akademický článek
European lipodystrophy registry: background and structure
Autor: Julia von Schnurbein, Claire Adams, Baris Akinci, Giovanni Ceccarini, Maria Rosaria D’Apice, Alessandra Gambineri, Raoul C. M. Hennekam, Isabelle Jeru, Giovanna Lattanzi, Konstanze Miehle, Gabriele Nagel, Giuseppe Novelli, Ferruccio Santini, Ermelinda Santos Silva, David B. Savage, Paolo Sbraccia, Jannik Schaaf, Ekaterina Sorkina, George Tanteles, Marie-Christine Vantyghem, Camille Vatier, Corinne Vigouroux, Elena Vorona, David Araújo-Vilar, Martin Wabitsch
Publikováno v: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Abstract Background Lipodystrophy syndromes comprise a group of extremely rare and heterogeneous diseases characterized by a selective loss of adipose tissue in the absence of nutritional deprivation or catabolic state. Because of the rarity of each
Externí odkaz: https://doaj.org/article/ad91856d129d4197a99f9320d48d27e9
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4
Akademický článek
Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing.
Autor: Constantia Aristidou, Costas Koufaris, Athina Theodosiou, Mads Bak, Mana M Mehrjouy, Farkhondeh Behjati, George Tanteles, Violetta Christophidou-Anastasiadou, Niels Tommerup, Carolina Sismani
Publikováno v: PLoS ONE, Vol 12, Iss 1, p e0169935 (2017)
Familial apparently balanced translocations (ABTs) segregating with discordant phenotypes are extremely challenging for interpretation and counseling due to the scarcity of publications and lack of routine techniques for quick investigation. Recently
Externí odkaz: https://doaj.org/article/b0ec1152bf8f4b34baa5bdd7b514f422
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5
Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN)
Autor: Ingrid M.B.H. van de Laar, Annette F. Baas, Julie De Backer, Jan D. Blankenstein, Eelco Dulfer, Apollonia T.J.M. Helderman-van den Enden, Arjan C. Houweling, Marlies JE. Kempers, Bart Loeys, Fransiska Malfait, Leema Robert, George Tanteles, Michael Frank
Publikováno v: van de Laar, I M B H, Baas, A F, de Backer, J, Blankenstein, J D, Dulfer, E, Helderman-van den Enden, A T J M, Houweling, A C, Kempers, M J E, Loeys, B, Malfait, F, Robert, L, Tanteles, G & Frank, M 2022, ' Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN) ', European Journal of Medical Genetics, vol. 65, no. 9, 104557 . https://doi.org/10.1016/j.ejmg.2022.104557
European Journal of Medical Genetics, 65(9):104557. Elsevier Masson
European journal of medical genetics, 65(9):104557. ELSEVIER SCIENCE BV
EUROPEAN JOURNAL OF MEDICAL GENETICS
European Journal of Medical Genetics, 65(9):104557. Elsevier Masson SAS
European Journal of Medical Genetics, 65, 9
European Journal of Medical Genetics, 65(9):104557. Elsevier
European Journal of Medical Genetics, 65
Vascular Ehlers-Danlos syndrome (vEDS) is a rare genetic disorder clinically characterized by vascular, intestinal and uterine fragility and caused by heterozygous pathogenic variants in the COL3A1 gene. Management of patients with vEDS is difficult
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d445e008a563ceddd924e154043dba89
https://research.vumc.nl/en/publications/f4834327-875e-4f65-8b6f-849b00433669
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6
Intrafamilial Phenotype Variability in Two Male Siblings, With X-linked Juvenile Retinoschisis and Dorzolamide Treatment Effect in the Natural History of the Disease
Autor: Panayiotis, Christodoulou, George, Tanteles, Nayia, Nikolaou, Ioannis, Katsimbris, Maria, Stefaniotou
Publikováno v: Medical Hypothesis, Discovery and Innovation in Ophthalmology
To investigate how genotype is related to phenotype and document correlations of genotype-phenotype with response of topical administration of dorzolamide in siblings affected with X-linked juvenile retinoschisis (XLRS). We performed a retrospective
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::fd063da1fb888f5390b1aa9b8b69515a
https://pubmed.ncbi.nlm.nih.gov/30923717
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