Search Results - "Sara Bertok"

GENETIC APPROACH IN THE DIAGNOSIS OF CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT by Jarc Georgiev, Katja, Kopač, Matjaž, Bertok, Sara

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The Genetic Architecture of Congenital Heart Disease in Neonatal Intensive Care Unit Patients-The Experience of University Medical Centre, Ljubljana by Peterlin, Ana, Bertok, Sara, Writzl, Karin, Lovrečić, Luca, Maver, Aleš, Peterlin, Borut, Debeljak, Maruša, Nosan, Gregor

“…Congenital heart disease (CHD) is the most commonly detected congenital anomaly and affects up to 1% of all live-born neonates. Current guidelines support the…”
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Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency by Saho, Robert, Dolzan, Vita, Zerjav Tansek, Mojca, Pastorakova, Andrea, Petrovic, Robert, Knapkova, Maria, Trebusak Podkrajsek, Katarina, Suput Omladic, Jasna, Bertok, Sara, Avbelj Stefanija, Magdalena, Kotnik, Primoz, Battelino, Tadej, Pribilincova, Zuzana, Groselj, Urh

“…To analyze the mutational spectrum, clinical characteristics, genotype-phenotype correlations, testicular adrenal rests tumor prevalence, and role of neonatal…”
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Novel Insights Into Monogenic Obesity Syndrome Due to INPP5E Gene Variant: A Case Report of a Female Patient by Drole Torkar, Ana, Avbelj Stefanija, Magdalena, Bertok, Sara, Trebušak Podkrajšek, Katarina, Debeljak, Maruša, Stirn Kranjc, Branislava, Battelino, Tadej, Kotnik, Primož

“…A Caucasian girl with consanguineous parents presented with early severe obesity and retinal dystrophy. A novel, homozygous gene truncating variant (c.1897C>T)…”
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Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism by Hovnik, Tinka, Debeljak, Maruša, Tekavčič Pompe, Manca, Bertok, Sara, Battelino, Tadej, Stirn Kranjc, Branka, Trebušak Podkrajšek, Katarina

“…Oculocutaneous albinism (OCA) is an inherited disorder affecting the visual system and skin pigmentation. Our aim was to evaluate genetic and clinical…”
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Non-alcoholic fatty liver disease in a pediatric patient with heterozygous familial hypobetalipoproteinemia due to a novel APOB variant: a case report and systematic literature review by Molk, Neza, Bitenc, Mojca, Urlep, Darja, Zerjav Tansek, Mojca, Bertok, Sara, Trebusak Podkrajsek, Katarina, Sustar, Ursa, Kovac, Jernej, Battelino, Tadej, Debeljak, Marusa, Groselj, Urh

“…Familial hypobetalipoproteinemia (FHBL) is an autosomal semi-dominant disorder usually caused by variants in the gene that frequently interferes with protein…”
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Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review by Štajer, Katarina, Kovač, Neja, Šikonja, Jaka, Mlinarič, Matej, Bertok, Sara, Brecelj, Jernej, Debeljak, Maruša, Kovač, Jernej, Markelj, Gašper, Neubauer, David, Rus, Rina, Žerjav Tanšek, Mojca, Drole Torkar, Ana, Zver, Aleksandra, Battelino, Tadej, Jiménez Torres, Rosa, Grošelj, Urh

“…Phosphoribosylpyrophosphate synthetase 1 (PRSI) is an enzyme involved in nucleotide metabolism. Pathogenic variants in the PRPS1 are rare and PRS-I deficiency…”
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GENETSKO DIAGNOSTICIRANJE PRIROJENIH NEPRAVILNOSTI SEČIL by Jarc Georgiev, Katja, Kopač, Matjaž, Bertok, Sara

“…Prirojene nepravilnosti sečil vključujejo širok spekter malformacij, ki so posledica neustreznega embrionalnega razvoja sečil in se pogosto se pojavljajo v…”
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Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability by Lovrecic, Luca, Gnan, Chiara, Baldan, Federica, Franzoni, Alessandra, Bertok, Sara, Damante, Giuseppe, Isidor, Bertrand, Peterlin, Borut

“…Several patients with the 2p16.1p15 microdeletion syndrome have been reported. However, microduplication in the 2p16.1p15 chromosomal region has only been…”
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Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia – A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant by Sikonja, Jaka, Brecelj, Jernej, Zerjav Tansek, Mojca, Repic Lampret, Barbka, Drole Torkar, Ana, Klemencic, Simona, Lipovec, Neza, Stefanova Kralj, Valentina, Bertok, Sara, Kovac, Jernej, Faganel Kotnik, Barbara, Tesarova, Marketa, Remec, Ziga Iztok, Debeljak, Marusa, Battelino, Tadej, Groselj, Urh

“…Tyrosinemia type 1 (HT1) is an inborn error of tyrosine catabolism that leads to severe liver, kidney, and neurological dysfunction. Newborn screening (NBS)…”
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DENTAL ENAMEL HYPOPLASIA AS A PRESENTING SIGN OF AUTOIMMUNE POLYENDOCRINOPATHY WITH CANDIDIASIS-ECTODERMAL DYSTROPHY - A CASE REPORT by Regoršek Vrabec, Lea, Leban, Tina, Trebušak Podkrajšek, Katarina, Bratina, Nataša, Bertok, Sara, Pavlič, Alenka, Avbelj Stefanija, Magdalena

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INFANTILNA KORTIKALNA HIPEROSTOZA by Morgan, Nika, Bertok, Sara, Ključevšek, Damjana, Schara, Karin, Lozar Krivec, Jana

“…Infantilna kortikalna hiperostoza ali Caffeyjeva bolezen je redka dedna bolezen, ki je posledica mutacije v genu za kolagen tipa 1. Mehanizem nastanka bolezni…”
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INFANTILE CORTICAL HYPEROSTOSIS by Morgan, Nika, Bertok, Sara, Ključevšek, Damjana, Schara, Karin, Lozar Krivec, Jana

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HIPOPLAZIJA SKLENINE KOT ZNAK AVTOIMUNSKE POLIENDOKRINOPATIJE-KANDIDIAZE-EKTODERMALNE DISTROFIJE − PRIKAZ KLINIČNEGA PRIMERA by Regoršek Vrabec, Lea, Leban, Tina, Trebušak Podkrajšek, Katarina, Bratina, Nataša, Bertok, Sara, Pavlič, Alenka, Avbelj Stefanija, Magdalena

“…Avtoimunska poliendokrinopatija s kandidiazo in ektoder- malno distrofijo (APECED) je redka monogenska bolezen, ki jo povzročajo prirojene patološke genetske…”
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Next generation sequencing as a follow-up test in an expanded newborn screening programme by Smon, Andraz, Repic Lampret, Barbka, Groselj, Urh, Zerjav Tansek, Mojca, Kovac, Jernej, Perko, Dasa, Bertok, Sara, Battelino, Tadej, Trebusak Podkrajsek, Katarina

“…Contrary to many western European countries, most south-eastern European countries do not have an expanded newborn screening (NBS) program using tandem mass…”
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Challenges in establishing optimal pediatric palliative care at the university hospital in Slovenia by Meglič, Jakob, Lisec, Ajda, Lepej, Dušanka, Loboda, Tanja, Bertok, Sara, Lešnik Musek, Petra, Kreft Hausmeister, Ivana, Oštir, Majda, Ponjević, Tehvida, Meglič, Anamarija

“…The integration of pediatric palliative care (PPC) should become a standard of care for all children with life-limiting and life-threatening illnesses. There…”
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A novel mutation of congenital nephrotic syndrome in a Slovenian child eventually receiving a renal transplant by Golob, Valentina, Nosan, Gregor, Bertok, Sara, Frelih, Maja, Boštjanči, Emanuela, Rus, Rina

“…Congenital nephrotic syndrome (CNS) is a rare disease defined as heavy proteinuria, hypoalbuminemia, hyperlipidemia, and edema presenting in the first three…”
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Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals by Basmanav, F Buket, Cesarato, Nicole, Kumar, Sheetal, Borisov, Oleg, Kokordelis, Pavlos, Ralser, Damian J, Wehner, Maria, Axt, Daisy, Xiong, Xing, Thiele, Holger, Dolgin, Vadim, Gossmann, Yasmina, Fricker, Nadine, Dewenter, Malin Katharina, Weller, Karsten, Suri, Mohnish, Reichenbach, Herbert, Oji, Vinzenz, Addor, Marie-Claude, Ramirez, Karla, Stewart, Helen, Garcia Bartels, Natalie, Weibel, Lisa, Wagner, Nicola, George, Susannah, Kilic, Arzu, Tantcheva-Poor, Iliana, Stewart, Alison, Dikow, Nicola, Blaumeiser, Bettina, Medvecz, Márta, Blume-Peytavi, Ulrike, Farrant, Paul, Grimalt, Ramon, Bertok, Sara, Bradley, Lisa, Eskin-Schwartz, Marina, Birk, Ohad Samuel, Bygum, Anette, Simon, Michel, Krawitz, Peter, Fischer, Christine, Hamm, Henning, Fritz, Günter, Betz, Regina C

“…Uncombable hair syndrome (UHS) is a rare hair shaft anomaly that manifests during infancy and is characterized by dry, frizzy, and wiry hair that cannot be…”
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An Adolescent Boy with Klinefelter Syndrome and 47,XXY/46,XX Mosaicism: Case Report and Review of Literature by Hovnik, Tinka, Zitnik, Eva, Avbelj Stefanija, Magdalena, Bertok, Sara, Sedej, Katarina, Bancic Silva, Vesna, Battelino, Tadej, Groselj, Urh

“…Klinefelter syndrome is the most commonly reported sex chromosome abnormality. It is heavily underdiagnosed due to the substantial variability of clinical…”
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The association of SCN1A p.Thr1067Ala polymorphism with epilepsy risk and the response to antiepileptic drugs in Slovenian children and adolescents with epilepsy by Bertok, Sara, Dolžan, Vita, Goričar, Katja, Podkrajšek, Katarina Trebušak, Battelino, Tadej, Rener-Primec, Zvonka

“…•SCN1A polymorphism c.3184A>G/p.Thr1067Ala was studied in European epilepsy patients.•Carriers of G allele of SCNA1 c.3184A>G tended to have lower epilepsy…”
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