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Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene.
Žigman T, Petković Ramadža D, Lušić M, Zekušić M, Ninković D, Gardijan D, Potočki K, Omerza L, Beljan L, Žarković K, Kerkhof J, Ljubojević M, de Sain-van der Velden M, Vuković J, Fumić K, Sadiković B, Barić I. Žigman T, et al. J Pediatr Endocrinol Metab. 2018 Oct 25;31(10):1155-1159. doi: 10.1515/jpem-2017-0397. J Pediatr Endocrinol Metab. 2018. PMID: 30243016
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
D'Onofrio G, Accogli A, Severino M, Caliskan H, Kokotović T, Blazekovic A, Jercic KG, Markovic S, Zigman T, Goran K, Barišić N, Duranovic V, Ban A, Borovecki F, Ramadža DP, Barić I, Fazeli W, Herkenrath P, Marini C, Vittorini R, Gowda V, Bouman A, Rocca C, Alkhawaja IA, Murtaza BN, Rehman MMU, Al Alam C, Nader G, Mancardi MM, Giacomini T, Srivastava S, Alvi JR, Tomoum H, Matricardi S, Iacomino M, Riva A, Scala M, Madia F, Pistorio A, Salpietro V, Minetti C, Rivière JB, Srour M, Efthymiou S, Maroofian R, Houlden H, Vernes SC, Zara F, Striano P, Nagy V. D'Onofrio G, et al. Among authors: zigman t. Hum Genet. 2023 Jul;142(7):909-925. doi: 10.1007/s00439-023-02552-2. Epub 2023 May 14. Hum Genet. 2023. PMID: 37183190 Free PMC article. Review.
ATP synthase deficiency due to m.8528T>C mutation - a novel cause of severe neonatal hyperammonemia requiring hemodialysis.
Žigman T, Šikić K, Petković Ramadža D, Mayr J, Wortmann S, Prokisch H, Ninković D, Dilber D, Šarić D, Rubić F, Galić S, Slaviček J, Belina D, Fumić K, Barić I. Žigman T, et al. J Pediatr Endocrinol Metab. 2020 Nov 13;34(3):389-393. doi: 10.1515/jpem-2020-0396. Print 2021 Mar 26. J Pediatr Endocrinol Metab. 2020. PMID: 33180048
A biallelic loss-of-function variant in MYZAP is associated with a recessive form of severe dilated cardiomyopathy.
Maver A, Zigman T, Rangrez AY, Coric M, Homolak J, Saric D, Skific I, Udovicic M, Zekusic M, Saleem U, Laufer SD, Hansen A, Frey N, Baric I, Peterlin B. Maver A, et al. Among authors: zigman t. Cold Spring Harb Mol Case Stud. 2022 Jul 15;8(5):a006221. doi: 10.1101/mcs.a006221. Online ahead of print. Cold Spring Harb Mol Case Stud. 2022. PMID: 35840178 Free PMC article.
26 results