Search Results - "Krgović, Danijela"

The Role of Next-Generation Sequencing in the Management of Patients with Suspected Non-Ischemic Cardiomyopathy after Syncope or Termination of Sudden Arrhythmic Death by Vokač, Damijan, Stangler Herodež, Špela, Krgović, Danijela, Kokalj Vokač, Nadja

“…Cardiac arrhythmias and sudden death are frequent in patients with non-ischemic cardiomyopathy and can precede heart failure or additional symptoms where…”
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Deletion of the last exon of SHANK3 gene produces the full Phelan–McDermid phenotype: A case report by Macedoni-Lukšič, Marta, Krgović, Danijela, Zagradišnik, Boris, Kokalj-Vokač, Nadja

“…•Deletion of the last exon of SHANK3 results in the full 22q13.3 deletion syndrome.•Our case shows no positive correlation between deletion size and clinical…”
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Identification of genomic copy number variations associated with specific clinical features of head and neck cancer by Zagradišnik, Boris, Krgović, Danijela, Herodež, Špela Stangler, Zagorac, Andreja, Ćižmarević, Bogdan, Vokač, Nadja Kokalj

“…Copy number variations (CNSs) of large genomic regions are an important mechanism implicated in the development of head and neck cancer, however, for most…”
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Identification of potentially pathogenic variants for autism spectrum disorders using gene-burden analysis by Rihar, Nika, Krgovic, Danijela, Kokalj-Vokač, Nadja, Stangler-Herodez, Spela, Zorc, Minja, Dovc, Peter

“…Gene- burden analyses have lately become a very successful way for the identification of genes carrying risk variants underlying the analysed disease. This…”
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CNVs and Chromosomal Aneuploidy in Patients With Early-Onset Schizophrenia and Bipolar Disorder: Genotype-Phenotype Associations by Gregoric Kumperscak, Hojka, Krgovic, Danijela, Drobnic Radobuljac, Maja, Senica, Nina, Zagorac, Andreja, Kokalj Vokac, Nadja

“…Early-onset schizophrenia (EOS) and bipolar disorder (EOB) start before the age of 18 years and have a more severe clinical course, a worse prognosis, and a…”
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Impaired Neurodevelopmental Genes in Slovenian Autistic Children Elucidate the Comorbidity of Autism With Other Developmental Disorders by Krgovic, Danijela, Gorenjak, Mario, Rihar, Nika, Opalic, Iva, Stangler Herodez, Spela, Gregoric Kumperscak, Hojka, Dovc, Peter, Kokalj Vokac, Nadja

“…Autism spectrum disorders (ASD) represent a phenotypically heterogeneous group of patients that strongly intertwine with other neurodevelopmental disorders…”
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Purification of large plasmids with methacrylate monolithic columns by Krajnc, Nika Lendero, Smrekar, Franci, Černe, Jasmina, Raspor, Peter, Modic, Martina, Krgovič, Danijela, Štrancar, Aleš, Podgornik, Aleš

“…The rapid evolution of gene therapy and DNA vaccines results in an increasing interest in producing large quantities of pharmaceutical grade plasmid DNA. Most…”
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Submicroscopic interstitial deletion of chromosome 11q22.3 in a girl with mild mental retardation and facial dysmorphism: Case report by Krgovic, Danijela, Marcun Varda, Natasa, Zagorac, Andreja, Kokalj-Vokac, Nadja

“…Except for terminal deletions that lead to Jacobsen syndrome, interstitial deletions involving the long arm of chromosome 11 are not frequently reported. A…”
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Analiza klinično pomembnih strukturnih genomskih variabilnosti pri slovenskih otrocih z nepojasnjenim razvojnim ali duševnim zaostankom, s prirojenimi nepravilnostmi in z motnjami avtističnega spektra by Krgović, Danijela

“…Kljub intenzivni genetski obravnavi otrok z razvojno–nevrološkimi motnjami pri skoraj polovici obravnavanih ostaja vzrok motnje še vedno nepojasnjen. V zadnjih…”
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Rare structural variants in the DOCK8 gene identified in a cohort of 439 patients with neurodevelopmental disorders by Krgovic, Danijela, Kokalj Vokac, Nadja, Zagorac, Andreja, Gregoric Kumperscak, Hojka

“…Detection of copy number variations (CNVs) is a first-tier clinical diagnostic test for children with neurodevelopmental disorders (NDD), which reveals the…”
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Specific behavioural phenotype and secondary cognitive decline as a result of an 8.6 Mb deletion of 2q32.2q33.1 by Gregoric Kumperscak, Hojka, Krgovic, Danijela, Vokac, Nadja Kokalj

“…Chromosomal abnormalities involving 2q32q33 deletions are very rare and present with a specific phenotype. This case report describes a 37-year-old female…”
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Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar by Riggs, Erin R., Nelson, Tristan, Merz, Andrew, Ackley, Todd, Bunke, Brian, Collins, Christin D., Collinson, Morag N., Fan, Yao‐Shan, Goodenberger, McKinsey L., Golden, Denae M., Haglund‐Hazy, Linda, Krgovic, Danijela, Lamb, Allen N., Lewis, Zoe, Li, Guang, Liu, Yajuan, Meck, Jeanne, Neufeld‐Kaiser, Whitney, Runke, Cassandra K., Sanmann, Jennifer N., Stavropoulos, Dimitri J., Strong, Emma, Su, Meng, Tayeh, Marwan K., Kokalj Vokac, Nadja, Thorland, Erik C., Andersen, Erica, Martin, Christa L.

“…Conflict resolution in genomic variant interpretation is a critical step toward improving patient care. Evaluating interpretation discrepancies in copy number…”
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A coalescence of two syndromes in a girl with terminal deletion and inverted duplication of chromosome 5 by Krgovic, Danijela, Blatnik, Ana, Burmas, Ante, Zagorac, Andreja, Kokalj Vokac, Nadja

“…Rearrangements involving chromosome 5p often result in two syndromes, Cri-du-chat (CdC) and Trisomy 5p, caused by a deletion and duplication, respectively. The…”
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Characterization of Genomic Structural Variations in Slovenian Children With Unexplained Intellectual Disabilities or Developmental Delay, Congenital Anomalies, and Autistic Spectrum Disorders by Krgovic, Danijela

“…In spite of intensive genetic diagnostics, in about half of the children with neurodevelopmental disorders the cause of the disorder still remains unexplained…”
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Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions by VERGULT, Sarah, KRGOVIC, Danijela, LOEYS, Bart, LYONNET, Stanislas, LIEDEN, Agne, ANDERLID, Britt-Marie, SHARKEY, Freddie, JOSS, Shelagh, MORTIER, Geert, MENTEN, Bjorn

“…The introduction of array CGH in clinical diagnostics has led to the discovery of many new microdeletion/microduplication syndromes. Most of them are rare and…”
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Nasal speech in patients with 12q15 microdeletions by Vergult, Sarah, Krgovic, Danijela, Loeys, Bart, Lyonnet, Stanislas, Liedén, Agne, Anderlid, Britt-Marie, Sharkey, Freddie, Joss, Shelagh, Mortier, Geert, Menten, Björn

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Characterization of genomic structural variations in Slovenian children with unexplained intellectual disabilities or developmental delay, congenital anomalies, and autistic spectrum disorders by Krgovic, Danijela

“…In spite of intensive genetic diagnostics, in about half of the children with neurodevelopmental disorders the cause of the disorder still remains unexplained…”
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