Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Uros Hladnik"'
Autor:
Emir Zonic, Mariana Ferreira, Luba M. Pardo, Javier Martini, Maria Eugenia Rocha, Ruxandra Aanicai, Natalia Ordonez-Herrera, Deepa Saravanakumar, Ligia S. Almeida, Inês C. Fernandes, Nishtha Gulati, Sumanth Mannepalli, Amela Hercegovac, Ruslan Al-Ali, Catarina Pereira, Omid Paknia, Uros Hladnik, Peter Bauer, Jorge Pinto Basto, Aida M. Bertoli-Avella
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100833- (2023)
Purpose: With this study, we aimed to explore the gene-disease relationship (GDR) evidence for 109 gene-disease pairs and the significance of a large Biodatabank for this classification. Methods: The Clinical Genome Resource (ClinGen) Clinical Validi
Externí odkaz:
https://doaj.org/article/5646c2cad13543d692abf4b0e83ef3f2
Autor:
Maria Teresa Bonati, Federico Verde, Uros Hladnik, Paola Cattelan, Luca Campana, Chiara Castronovo, Nicola Ticozzi, Luca Maderna, Claudia Colombrita, Sergio Papa, Paolo Banfi, Vincenzo Silani
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 13, Iss C, Pp 14-17 (2017)
We report on a family with occipital horn syndrome (OHS) diagnosed in the proband's late fifties. A novel ATP7A pathogenic variant (c.4222A>T, p.(Lys1408*)), representing the first nonsense variant and the second late truncation causing OHS rather th
Externí odkaz:
https://doaj.org/article/385a1b3965b14c4187fbedc8abbd99ae
Autor:
Marco Rastrelli, Uros Hladnik, Annalisa Tosi, Paola Cattelan, Carlo Riccardo Rossi, Maria Vittoria Enzo, Daniela Segat
Publikováno v:
Histochemistry and Cell Biology. 151:145-160
Desmoid-like fibromatosis (DF) is a rare myofibroblastic benign tumor, often associated with local and repeated injuries, spontaneous regression and stabilization of disease progression suggesting the involvement of altered Wnt/β-catenin signaling a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42dfedd6633c742692e458215db8197b
https://doi.org/10.1007/s00418-018-1718-1
https://doi.org/10.1007/s00418-018-1718-1
Autor:
Uros Hladnik, Federico Verde, Nicola Ticozzi, Chiara Castronovo, Paola Cattelan, Vincenzo Silani, Luca Campana, Paolo Banfi, Maria Teresa Bonati, Luca Maderna, Sergio Papa, Claudia Colombrita
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 13, Iss C, Pp 14-17 (2017)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
We report on a family with occipital horn syndrome (OHS) diagnosed in the proband's late fifties. A novel ATP7A pathogenic variant (c.4222A > T, p.(Lys1408*)), representing the first nonsense variant and the second late truncation causing OHS rather
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c598daebd9325ca49729ac9c08b81e32
https://doi.org/10.1016/j.ymgmr.2017.07.007
https://doi.org/10.1016/j.ymgmr.2017.07.007
Autor:
Pooja S. Kulshreshtha, Uros Hladnik, Madhuri Maganthi, Himabindu Kodishala, G. N. Sanjeeva, Rohit Kumar R. Marol, Jayarama S. Kadandale, P. Raghupathy, Elisa Lorenzetto, Meenakshi Bhat
Publikováno v:
The Indian Journal of Pediatrics. 84:815-821
To describe the clinical presentations and molecular diagnosis to aid the clinicians in early diagnosis and appropriate management of Prader-Willi syndrome (PWS). Thirty-four clinically diagnosed PWS cases were enrolled after obtaining informed conse
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad984ac10f4042ab185379b31787300c
https://doi.org/10.1007/s12098-017-2386-1
https://doi.org/10.1007/s12098-017-2386-1
Autor:
Fernanda Fabiani, Uros Hladnik, Vincenzo Dattilo, Gianluca Contrò, Steven Paul Nisticò, Rossana Tallerico, Rodolfo Iuliano, Maria Vittoria Enzo, Emma Colao, Nicola Perrotti, Stefano Dastoli
Publikováno v:
Human Genome Variation
Human Genome Variation, Vol 6, Iss 1, Pp 1-4 (2019)
Human Genome Variation, Vol 6, Iss 1, Pp 1-4 (2019)
Pseudoxanthoma elasticum is an autosomal recessive heritable disorder caused by mutations in ABCC6. We describe two siblings showing typical skin lesions and a clinical diagnosis of pseudoxanthoma elasticum. Genetic analysis of ABCC6 revealed a novel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::182796a263c2eb72bb4334a6fdba74a8
http://europepmc.org/articles/PMC6586818
http://europepmc.org/articles/PMC6586818
Autor:
Giovanna Weber, Lorenzo Iughetti, Barbara Predieri, Graziano Grugni, Maurizio Delvecchio, Giulia Vivi, Alessandro Salvatoni, Antonio Balsamo, Malgorzata Wasniewska, Nella Augusta Greggio, Antonino Crinò, Luigi Gargantini, Uros Hladnik, L. Ragusa, Andrea Corrias, Alba Pilotta
Background Prader-Willi syndrome (PWS) is a genetic disorder due to loss of expression of paternally transcribed genes of the imprinted region of chromosome 15q11-13. PWS is characterized by peculiar signs and symptoms and many endocrine abnormalitie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ff305fada9966a7891dd2fcfaa84fa3
http://www.reference-global.com/loi/jpem
http://www.reference-global.com/loi/jpem
Autor:
Marco Rastrelli, Cristiana Meneghello, Carlo Riccardo Rossi, Maria Cristina Montesco, Daniela Segat, Antonio Sommariva, Laura Anesi, Bouchra Ousghir, Uros Hladnik
Publikováno v:
Histopathology. 62:1098-1108
Aims Desmoid-type fibromatosis (DF) is a rare benign myofibroblastic neoplasm of the connective tissue that is unable to metastasize but is associated with a high local recurrence rate. Nuclear β-catenin is the most commonly used histological marker
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e79b7d766323dd9e9f90ca5d5d1bf5c
https://doi.org/10.1111/his.12133
https://doi.org/10.1111/his.12133
Publikováno v:
Nephrology Dialysis Transplantation. 27:3705-3712
Background In this paper, we report two new original deletions and present an extended review of the previously characterized AVPR2 gene deletions to better understand the underlying deletion mechanisms. Methods The two novel deletions were defined u
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a2f38592b0d7776f9e112c0ee328eb2b
https://doi.org/10.1093/ndt/gfs359
https://doi.org/10.1093/ndt/gfs359
Publikováno v:
Journal of molecular neuroscience, 43
Autosomal recessive spastic ataxia of Charlevoix-Saguenay, more commonly known as ARSACS, is an early-onset cerebellar ataxia with spasticity, amyotrophy, nystagmus, dysarthria, and peripheral neuropathy. SACS is the only gene known to be associated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b730b84c2a910f606ca062a992fb6d2f
https://doi.org/10.1007/s12031-010-9448-4
https://doi.org/10.1007/s12031-010-9448-4