Zobrazeno 1 - 10
of 67
pro vyhledávání: '"Miroslav Dumić"'
Publikováno v:
Abstracts.
Relative Frequency of Islet Autoimmunity in Children and Adolescents with Autoimmune Thyroid Disease
Autor:
Natasa Rojnic Putarek, Nevena Krnic, Jadranka Knezevic-Cuca, Vesna Kusec, Maja Baretic, Miroslav Dumic
Publikováno v:
JCRPE, Vol 15, Iss 4, Pp 348-355 (2023)
INTRODUCTION: The aim of the present study was to investigate islet autoimmunity and susceptibility to type 1 diabetes (T1D) in children/ adolescents with autoimmune thyroid disease (AITD, and in family members of AITD patients with islet autoimmunit
Externí odkaz:
https://doaj.org/article/c2c7cb8c3ad04ac988b7e48ac835ab17
Autor:
Katja K. Dumic, Claudine Heinrichs, Katrin Koehler, Angela Huebner, Miroslav Dumic, Vesna Kusec, Tina Dusek, Friederike Quitter
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
ObjectiveTriple A syndrome, caused by autosomal recessively inherited mutations in the AAAS gene is characterized by alacrima, achalasia, adrenal insufficiency, and neurological impairment. To the best of our knowledge, no patients of both sexes have
Externí odkaz:
https://doaj.org/article/d9af12447e8d498ba2e856103c2a23e2
Autor:
Robert C. Wilson, Maria I. New, Tony Yuen, Ingeborg Barišić, Katarina Stingl, Vesna Kušec, Katja Dumić, Veselin Škrabić, Ivona Sansović, Zorana Grubic, Miroslav Dumić
Publikováno v:
The Journal of Steroid Biochemistry and Molecular Biology. 165:51-56
Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency is caused by mutation in the CYP21A2 gene. The frequency and spectrum of CYP21A2 mutations and genotype-phenotype correlations among different populations are variable. Aim of this stu
Autor:
Zvonimir Kaić, Tomislav Lauc, Marko Babic, Miroslav Dumić, Jelena Milasin, Jovana Juloski, Jelena Dumančić, Ivana Scepan
Publikováno v:
Archives of Oral Biology
Objective Turner syndrome occurs in phenotypic females with complete or partial absence of X chromosome. The leading symptom is short stature, while numerous but mild stigmata manifest in the craniofacial region. These patients are commonly treated w
Autor:
Charles Shaw-Smith, Martin A. Mensah, Marwan Shinawi, Sarah E.M. Stephenson, Emanuele Agolini, Richard J. Leventer, Tomi L. Toler, Nicola J. Allen, Paul J. Lockhart, Tjitske Kleefstra, William Reardon, Stefan Mundlos, Mirna Mustapha, Wei Shern Lee, Martin B. Delatycki, Miroslav Dumić, Rolph Pfundt, V. Reid Sutton, Melanie Bahlo, Arjan P.M. de Brouwer, Rick M. Tankard, Martina Rinelli, Rossella Capolino, D Phelan, David J. Amor, Geert Mortier, Diego Martinelli, Cari Dowling, Giuseppe Zampino, Charlotte W. Ockeloen
Publikováno v:
American Journal of Human Genetics, 104, 5, pp. 914-924
The American journal of human genetics
American Journal of Human Genetics, 104, 914-924
The American journal of human genetics
American Journal of Human Genetics, 104, 914-924
Glypicans are a family of cell-surface heparan sulfate proteoglycans that regulate growth-factor signaling during development and are thought to play a role in the regulation of morphogenesis. Whole-exome sequencing of the Australian family that defi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a01d738b28374a516023cb810b71561a
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/203592
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/203592
Autor:
Marija Maskalan, K. Stingl Jankovic, Zorana Grubic, Renata Zunec, Miroslav Dumić, S. Zvecic, K. Dumic Kubat, Nevena Krnić, Vesna Kušec, J. Ille
Publikováno v:
HLA. 88:239-244
The CYP21A2 mutations that are in linkage disequilibrium with particular HLA-A, -B, -DRB1 alleles/haplotypes, cause deficiency of the 21-hydroxylase enzyme (21-OHD) and account for the majority of congenital adrenal hyperplasia (CAH) cases. The aim o
Background High goiter prevalence caused by iodine deficiency (medium content 5.6 mg potassium iodide [KI]/kg of salt, median urine iodine concentration [UIC] 68 μg/L) in Croatia was observed in 1991 and 1995 when salt was iodized with 10 mg KI/kg.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8dac436241d5ade27034eddd4fbadd54
https://doi.org/10.1515/jpem-2018-0129
https://doi.org/10.1515/jpem-2018-0129
Autor:
Jadranka Knezevic-Cuca, Zorana Grubić, Marija Maskalan, Miroslav Dumić, Renata Zunec, Nataša Rojnić Putarek, Anita Spehar Uroic, Marija Burek Kamenaric, Katarina Stingl Jankovic
Publikováno v:
Gene. 674
This study included 161 patients: 92 patients had type 1 diabetes (T1D) while 69 patients had a combination of T1D and autoimmune thyroiditis, the so-called autoimmune polyglandular syndrome type 3 variant (APS3v). Those patients, as well as 93 contr
Autor:
Zorana Grubić, Nataša Rojnić Putarek, Marija Maskalan, Jasenka Ille, Anita Špehar Uroić, Miroslav Dumić, Renata Žunec, Nevena Krnić
Publikováno v:
Pediatric diabetes. 18