Publications by authors named "Ivona Sansovic"

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Comparison of the ABC and ACMG systems for variant classification.
Gunnar Houge, Eirik Bratland, Ingvild Aukrust, Kristian Tveten, Gabrielė Žukauskaitė, Ivona Sansovic

Eur J Hum Genet· July 2024

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Novel de Novo Nonsense Variants in AGO3 and KHSRP: Insights into Global Developmental Delay and Autism Spectrum Disorders through Whole Genome Analysis.
Mario Ćuk, Luka Lovrenčić, Busra Unal, McKenzie Walker, Connor P Hayes

Am J Case Rep· July 2024

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Spectrum of genetic variants in 306 patients with non-syndromic hearing loss from Croatia.
Ivona Sansović, Ana-Maria Meašić, Adriana Bobinec, Leona Morožin Pohovski, Ljubica Odak

Croat Med J· June 2024

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Clinical relevance of the TECTA c.6183G>T variant identified in a family with autosomal dominant hearing loss: a case report.
Ivona Sansović, Ana-Maria Meašić, Ljubica Odak, Mijana Kero

Croat Med J· October 2023

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The first case report of distal 16p12.1p11.2 trisomy and proximal 16p11.2 tetrasomy inherited from both parents.
Leona Morožin Pohovski, Ivona Sansović, Katarina Vulin, Ljubica Odak

Croat Med J· October 2023

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Trends in the treatment of undescended testes: a pediatric tertiary care center experience from Croatia.
Marko Bašković, Luca Zaninović, Ivona Sansović, Ana Maria Meašić, Ana Katušić Bojanac

World J Pediatr Surg· October 2022

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Beckwith Wiedemann syndrome: A population-based study on prevalence, prenatal diagnosis, associated anomalies and survival in Europe.
Ingeborg Barisic, Ljubica Boban, Diana Akhmedzhanova, Jorieke E H Bergman, Clara Cavero-Carbonell, Ivona Sansovic

Eur J Med Genet· September 2018

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Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Ivona Sansović, Ana-Maria Ivankov, Adriana Bobinec, Mijana Kero, Ingeborg Barišić

Croat Med J· June 2017

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Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia.
Katja K Dumic, Zorana Grubic, Tony Yuen, Robert C Wilson, Vesna Kusec, Ivona Sansovic

J Steroid Biochem Mol Biol· January 2017

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Improved detection of deletions and duplications in the DMD gene using the multiplex ligation-dependent probe amplification (MLPA) method.
Ivona Sansović, Ingeborg Barišić, Katja Dumić

Biochem Genet· April 2013

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Hypochondroplasia due to FGFR3 gene mutation (N540K) and mosaic form of Down syndrome in the same patient.
Katja Dumic, Ingeborg Barisic, Kristina Potocki, Ivona Sansovic

J Appl Genet· May 2011

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GJB2 mutations in patients with nonsyndromic hearing loss from Croatia.
Ivona Sansović, Jelena Knezević, Vesna Musani, Pavel Seeman, Ingeborg Barisić

Genet Test Mol Biomarkers· October 2009

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Prevalence of the 35delG mutation in the GJB2 gene of patients with nonsyndromic hearing loss from Croatia.
Ivona Sansović, Jelena Knezević, Tanja Matijević, Sanja Balen, Ingeborg Barisić

Genet Test· April 2006

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