Zobrazeno 1 - 10
of 115
pro vyhledávání: '"Zoran Gucev"'
Autor:
Martin Magner, Zsuzsanna Almássy, Zoran Gucev, Beata Kieć-Wilk, Vasilica Plaiasu, Anna Tylki-Szymańska, Dimitrios Zafeiriou, Ioannis Zaganas, Christina Lampe
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Abstract Background Mucopolysaccharidosis IVA (MPS IVA), or Morquio A syndrome, is a rare inherited metabolic disorder caused by deficiency of the lysosomal enzyme N-acetylgalactosamine-6-sulfatase. A progressive systemic skeletal chondrodysplasia, l
Externí odkaz:
https://doaj.org/article/3835f3c99fe74eb6b71668d6e1fb2966
Autor:
Anna Tylki-Szymańska, Zsuzsanna Almássy, Violetta Christophidou-Anastasiadou, Daniela Avdjieva-Tzavella, Ingeborg Barisic, Rimante Cerkauskiene, Goran Cuturilo, Maja Djiordjevic, Zoran Gucev, Anna Hlavata, Beata Kieć-Wilk, Martin Magner, Ivan Pecin, Vasilica Plaiasu, Mira Samardzic, Dimitrios Zafeiriou, Ioannis Zaganas, Christina Lampe
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-16 (2022)
Abstract Background Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by defects in genes coding for different lysosomal enzymes which degrade glycosaminoglycans. Impaired lysosomal degradation causes cell dysfunction lead
Externí odkaz:
https://doaj.org/article/c70c1cc31551430c8564d28031134aef
Autor:
Marija Dimishkovska, Vjosa Mulliqi Kotori, Zoran Gucev, Svetlana Kocheva, Momir Polenakovic, Dijana Plaseska-Karanfilska
Publikováno v:
Balkan Medical Journal, Vol 35, Iss 1, Pp 108-111 (2018)
Background: Fanconi anemia is a rare autosomal recessive or X-linked disorder characterised by clinical and genetic heterogeneity. Most fanconi anemia patients harbour homozygous or double heterozygous mutations in the FANCA (60-65%), FANCC (10-15%),
Externí odkaz:
https://doaj.org/article/ebbaf6592fd74594bce7492d6ce9d082
Autor:
Velibor Tasic, Ann Marie Hynes, Kenichiro Kitamura, Hae Il Cheong, Vladimir J Lozanovski, Zoran Gucev, Promsuk Jutabha, Naohiko Anzai, John A Sayer
Publikováno v:
PLoS ONE, Vol 6, Iss 12, p e28641 (2011)
Idiopathic renal hypouricaemia is an inherited form of hypouricaemia, associated with abnormal renal handling of uric acid. There is excessive urinary wasting of uric acid resulting in hypouricaemia. Patients may be asymptomatic, but the persistent u
Externí odkaz:
https://doaj.org/article/2474c5731c374bc48615813d087d817f
Publikováno v:
Case Reports in Medicine, Vol 2010 (2010)
Tibial aplasia is an uncommon lower limb malformation that can occur isolated or be part of a more complex malformation pattern. We describe a 9-year-old boy born after uneventful pregnancy and delivery. Family history was negative for maternal diabe
Externí odkaz:
https://doaj.org/article/12d90cf0339d4546a7fa939c062306d4
Autor:
Zoran Gucev, Velibor Tasic, Aleksandra Jancevska, Nada Popjordanova, Svetlana Koceva, Marija Kuturec, Vesna Sabolic
Publikováno v:
Biomolecules & Biomedicine, Vol 9, Iss 2 (2009)
Progressive signs of ataxia in a eight years old girl prompted neurological investigation. The girl had unstable gait with incoordination of limb movements, impairment of position and vibratory senses, dysarthria, pes cavus, positive Babinski sign an
Externí odkaz:
https://doaj.org/article/f9f7e80939df413fb6761e1487977f26
Autor:
Anne Christians, Esra Kesdiren, Imke Hennies, Alejandro Hofmann, Mark-Oliver Trowe, Frank Brand, Helge Martens, Ann Christin Gjerstad, Zoran Gucev, Matthias Zirngibl, Robert Geffers, Tomáš Seeman, Heiko Billing, Anna Bjerre, Velibor Tasic, Andreas Kispert, Benno Ure, Dieter Haffner, Jens Dingemann, Ruthild G. Weber
Publikováno v:
Human Genetics. 142:73-88
Most patients with congenital anomalies of the kidney and urinary tract (CAKUT) remain genetically unexplained. In search of novel genes associated with CAKUT in humans, we applied whole-exome sequencing in a patient with kidney, anorectal, spinal, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c147a282a46f5c1927ea9ad7c2d80c9c
https://doi.org/10.1007/s00439-022-02481-6
https://doi.org/10.1007/s00439-022-02481-6
Autor:
Polona Le Quesne Stabej, Beatriz Corredor, Robin Lovell Badge, Selim Kurtoglu, Karine Rizzoti, Louise C. Gregory, Andrea Accogli, Gabriel Á. Martos-Moreno, Hywel T. P. Williams, Luis A. Pérez-Jurado, John C. Achermann, Mehul T. Dattani, Zeynep Burçin Gönen, Sinead M. McGlacken-Byrne, Leyla Akin, Valeria Capra, Jenifer P. Suntharalingham, Stephane Mouilleron, Mohamad Maghnie, Velibor Tasic, Stefano Gustincich, Aleksandra Filipovska, Dimitar N. Azmanov, Christophe Galichet, Zoran Gucev, Iain C.A.F. Robinson, Mustafa Kendirci, Anatoly Tuilpakov, Jesús Argente, Federica Buonocore
Publikováno v:
Yearbook of Paediatric Endocrinology.
© 2021 American College of Medical Genetics and GenomicsPurpose: We aimed to investigate the molecular basis underlying a novel phenotype including hypopituitarism associated with primary ovarian insufficiency. Methods: We used next-generation seque
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59bd1715ee8af88c72803ed53f509850
https://doi.org/10.1530/ey.19.1.7
https://doi.org/10.1530/ey.19.1.7
Autor:
Velibor Tasic, Zoran Gucev
Publikováno v:
Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)REFERENCES. 42(2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff66552646d42cc10ff8c2d0d285bd22
https://pubmed.ncbi.nlm.nih.gov/34699712
https://pubmed.ncbi.nlm.nih.gov/34699712
Autor:
Christoph Beger, Susanne Bechtold-Dalla Pozza, Holger Bogatsch, Susann Weihrauch-Blüher, Denise Rockstroh, Ruth Gausche, Angelika Mohn, Zoran Gucev, Jürgen Klammt, Eric Gopel, Marina Schlicke, Eva-Maria Harmel, Marie-Hélène Gannagé-Yared, Julia Volkmann, Heike Pfäffle, Roland Pfäffle
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 105:e1705-e1717
ContextIGF1 receptor mutations (IGF1RM) are rare; however, patients exhibit pronounced growth retardation without catch-up. Although several case reports exist, a comprehensive statistical analysis investigating growth profile and benefit of recombin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::804fd3a85cd77edf196e6f5bada29f08
https://doi.org/10.1210/clinem/dgz165
https://doi.org/10.1210/clinem/dgz165