M
Miroslav Dumić
Researcher at University of Zagreb
Publications - 76
Citations - 1897
Miroslav Dumić is an academic researcher from University of Zagreb. The author has contributed to research in topics: Congenital adrenal hyperplasia & Adrenal insufficiency. The author has an hindex of 20, co-authored 73 publications receiving 1676 citations. Previous affiliations of Miroslav Dumić include NewYork–Presbyterian Hospital & University Hospital Centre Zagreb.
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Journal ArticleDOI
Genotype–phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency
Maria I. New,Moolamannil Abraham,Brian Gonzalez,Miroslav Dumić,Maryam Razzaghy-Azar,David Chitayat,Li Sun,Mone Zaidi,Robert C. Wilson,Tony Yuen +9 more
TL;DR: By identifying the predominant phenotype for a given genotype, these findings should assist physicians in prenatal diagnosis and genetic counseling of parents who are at risk for having a child with CAH.
Journal ArticleDOI
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).
Martin Zenker,Julia Mayerle,Markus M. Lerch,Andreas Tagariello,Klaus Zerres,Peter R. Durie,Matthias Beier,Georg Hülskamp,Celina Guzman,Helga Rehder,Frits A. Beemer,Ben C.J. Hamel,Philippe Vanlieferinghen,Ruth Gershoni-Baruch,Marta W. Vieira,Miroslav Dumić,Ron Auslender,Vera Lúcia Gil-da-Silva-Lopes,Simone Steinlicht,Manfred Rauh,Stavit A. Shalev,Christian Thiel,Andreas Winterpacht,Yong Tae Kwon,Alexander Varshavsky,André Reis +25 more
TL;DR: Findings indicate that deficiency of UBR1 perturbs the pancreas' acinar cells and other organs, presumably owing to metabolic stabilization of specific substrates of the N-end rule pathway.
Journal ArticleDOI
Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia
Karl P. Schlingmann,Justyna Ruminska,Martin Kaufmann,Ismail Dursun,Monica Patti,Birgitta Kranz,Ewa Pronicka,Elżbieta Ciara,Teoman Akcay,Derya Bulus,Elisabeth A.M. Cornelissen,Aneta Gawlik,Przemysław Sikora,Ludwig Patzer,Matthias Galiano,Veselin Boyadzhiev,Miroslav Dumić,Asaf Vivante,Robert Kleta,Benjamin Dekel,Elena Levtchenko,René J. M. Bindels,Stephan Rust,Ian C. Forster,Nati Hernando,Glenville Jones,Carsten A. Wagner,Martin Konrad +27 more
TL;DR: Human and mice data together demonstrate that primary renal phosphate wasting caused by defective NaPi-IIa function induces inappropriate production of 1,25-(OH)2D3 with subsequent symptomatic hypercalcemia.
Journal ArticleDOI
Ethnic Specific Distribution of Mutations in 716 Patients with Congenital Adrenal Hyperplasia Owing to 21-Hydroxylase Deficiency
Robert C. Wilson,Saroj Nimkarn,Miroslav Dumić,Jihad S. Obeid,Jihad S. Obeid,Maryam Razzaghy Azar,Hossein Najmabadi,Fatemeh Saffari,Maria I. New +8 more
TL;DR: Genotype/phenotype non-correlation was seen when at least one IVS2 AS -13 (A/C to G) mutation in the CYP21A2 gene was present and the predominance of the prevalent mutations and genotypes in several of these populations was significant.
Neurological andadrenal dysfunction intheadrenal insufficiency/al acrima/achalasia (3A)syndrome
TL;DR: A review of 20 patients with glucocorticoid deficiency associated with absent tearsecretion (19 cases) andachalasia of thecardia (15 cases) revealed neurological abnormalities in 17 including hyperreflexia, muscleweakness, dysarthria, and ataxia together with impaired intelligence and abnormal autonomic function, particularly postural hypotension as mentioned in this paper.