Zobrazeno 1 - 10 of 23 pro vyhledávání: '"Astrit, Dautaj"'
1
Akademický článek
Progression of Atrophy and Visual Outcomes in Extensive Macular Atrophy with Pseudodrusen-like Appearance
Autor: Francesco Romano, MD, Matteo Airaldi, MD, Mariano Cozzi, MSc, Marta Oldani, MD, Ester Riva, MSc, Alice Ingrid Bertoni, BSc, Astrit Dautaj, MD, Matteo Bertelli, MD, Giovanni Staurenghi, MD, Anna Paola Salvetti, MD
Publikováno v: Ophthalmology Science, Vol 1, Iss 1, Pp 100016- (2021)
Purpose: To report visual outcomes and rate of retinal pigment epithelium (RPE) atrophy progression in patients with extensive macular atrophy with pseudodrusen-like appearance (EMAP). Design: Retrospective, observational study. Participants: Patient
Externí odkaz: https://doaj.org/article/c2350e64851241f39d31a8dfb14acf18
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2
Akademický článek
NOTCH1: Review of its role in lymphatic development and study of seven families with rare pathogenic variants
Autor: Sandro Michelini, Maurizio Ricci, Roberta Serrani, Shila Barati, Sercan Kenanoglu, Dominika Veselenyiova, Danjela Kurti, Mirko Baglivo, Syed Hussain Basha, Sasi Priya, Astrit Dautaj, Munis Dundar, Juraj Krajcovic, Matteo Bertelli
Publikováno v: Molecular Genetics & Genomic Medicine, Vol 9, Iss 1, Pp n/a-n/a (2021)
Abstract Background We developed a Next‐Generation‐Sequencing (NGS) protocol to screen the most frequent genetic variants related to lymphedema and a group of candidate genes. The aim of the study was to find the genetic cause of lymphedema in th
Externí odkaz: https://doaj.org/article/9f163611b0e648e7a378d9fd3ad70f83
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3
Akademický článek
Clinical Evaluation of a Custom Gene Panel as a Tool for Precision Male Infertility Diagnosis by Next-Generation Sequencing
Autor: Rossella Cannarella, Vincenza Precone, Giulia Guerri, Gian Maria Busetto, Gian Carlo Di Renzo, Sandro Gerli, Elena Manara, Astrit Dautaj, Matteo Bertelli, Aldo Eugenio Calogero
Publikováno v: Life, Vol 10, Iss 10, p 242 (2020)
Background: Up to 15% of couples are infertile and male factor infertility accounts for approximately 50% of these cases. Male infertility is a multifactorial pathological condition. The genetic of male infertility is very complex and at least 2000 g
Externí odkaz: https://doaj.org/article/875c7329d70f49f59a51c3ba1d0f0e87
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5
Genetic Analysis of Patients with Congenital Hypogonadotropic Hypogonadism: A Case Series
Autor: Rossella Cannarella, Carmelo Gusmano, Rosita A. Condorelli, Andrea Bernini, Jurgen Kaftalli, Paolo Enrico Maltese, Stefano Paolacci, Astrit Dautaj, Giuseppe Marceddu, Matteo Bertelli, Sandro La Vignera, Aldo E. Calogero
Publikováno v: International Journal of Molecular Sciences. 24:7428
Congenital hypogonadotropic hypogonadism (cHH)/Kallmann syndrome (KS) is a rare genetic disorder with variable penetrance and a complex inheritance pattern. Consequently, it does not always follow Mendelian laws. More recently, digenic and oligogenic
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2bb70ae2358f4ae8a7b7b59376a2e112
https://doi.org/10.3390/ijms24087428
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6
Low Efficacy of Genetic Tests for the Diagnosis of Primary Lymphedema Prompts Novel Insights into the Underlying Molecular Pathways
Autor: Gabriele Bonetti, Stefano Paolacci, Michele Samaja, Paolo Enrico Maltese, Sandro Michelini, Serena Michelini, Silvia Michelini, Maurizio Ricci, Marina Cestari, Astrit Dautaj, Maria Chiara Medori, Matteo Bertelli
Publikováno v: International Journal of Molecular Sciences; Volume 23; Issue 13; Pages: 7414
Lymphedema is a chronic inflammatory disorder caused by ineffective fluid uptake by the lymphatic system, with effects mainly on the lower limbs. Lymphedema is either primary, when caused by genetic mutations, or secondary, when it follows injury, in
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5320e04a8819b307686fe38223a39cb6
https://pubmed.ncbi.nlm.nih.gov/35806420
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7
Cardiac conduction defects
Autor: Giulia, Guerri, Geraldo, Krasi, Vincenza, Precone, Stefano, Paolacci, Pietro, Chiurazzi, Luca, Arrigoni, Bernardo, Cortese, Astrit, Dautaj, Matteo, Bertelli
Publikováno v: Acta Bio Medica : Atenei Parmensis
Defects in cardiac electric impulse formation or conduction can lead to an irregular beat (arrhythmia) that can cause sudden death without any apparent cause or after stress. In the following sections, we describe the genetic disorders associated wit
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b8d5ec0005e73c5cbafecade5c2fc396
http://europepmc.org/articles/PMC7233635
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8
A Multi-Gene Panel to Identify Lipedema-Predisposing Genetic Variants by a Next-Generation Sequencing Strategy
Autor: Sandro Michelini, Karen L. Herbst, Vincenza Precone, Elena Manara, Giuseppe Marceddu, Astrit Dautaj, Paolo Enrico Maltese, Stefano Paolacci, Maria Rachele Ceccarini, Tommaso Beccari, Elisa Sorrentino, Barbara Aquilanti, Valeria Velluti, Giuseppina Matera, Lucilla Gagliardi, Giacinto Abele Donato Miggiano, Matteo Bertelli
Publikováno v: Journal of Personalized Medicine; Volume 12; Issue 2; Pages: 268
Lipedema is a disabling disease characterized by symmetric enlargement of the lower and/or upper limbs due to deposits of subcutaneous fat, that is easily misdiagnosed. Lipedema can be primary or syndromic, and can be the main feature of phenotypical
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b53ce391eb9ea390ae21fbf5e21d85e
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10
Hereditary thrombophilia
Autor: Astrit, Dautaj, Geraldo, Krasi, Vilma, Bushati, Vincenza, Precone, Miriam, Gheza, Francesco, Fioretti, Marianna, Sartori, Alisia, Costantini, Sabrina, Benedetti, Matteo, Bertelli
Publikováno v: Acta Bio Medica : Atenei Parmensis
Thrombophilia is a group of disorders in which blood has an increased tendency to clot. It may be caused by inherited or acquired conditions. Thrombophilia is associated with risk of deep venous thrombosis and/or venous thromboembolism. Factor V Leid
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d84277122ef7ce98dc8cceac70c3d5b3
http://europepmc.org/articles/PMC7233636
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