Search Results - "Maver, A"

Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice by Tumienė, B., Maver, A., Writzl, K., Hodžić, A., Čuturilo, G., Kuzmanić‐Šamija, R., Čulić, V., Peterlin, B.

“…Although genetic revolution of recent years has vastly expanded a list of genes implicated in epilepsies, complex architecture of epilepsy genetics is still…”
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Expanding the Phenotypic Spectrum: Chronic Kidney Disease in a Patient with Combined Oxidative Phosphorylation Defect 21 by Paripović, A, Maver, A, Stajić, N, Putnik, J, Ostojić, S, Alimpić, B, Ilić, N, Sarajlija, A

“…Pathogenic variants in are associated with combined oxidative phosphorylation deficiency 21 (COXPD21), an autosomal recessive disorder usually presenting as…”
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Clinical next generation sequencing reveals an H3F3A gene as a new potential gene candidate for microcephaly associated with severe developmental delay, intellectual disability and growth retardation by Maver, A, Čuturilo, G, Ruml, Stojanović J, Peterlin, B

“…Microcephaly is characterized by significant clinical and genetic heterogeneity, therefore reaching the genetic diagnosis remains challenging in this group of…”
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Sensorineural Hearing Loss in a Child with Succinic Semialdehyde Dehydrogenase Deficiency by Parezanović, M, Ilić, N, Ostojić, S, Stevanović, G, Ječmenica, J, Maver, A, Sarajlija, A

“…Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal-recessive disorder of gamma-aminobutyric acid (GABA) metabolism, resulting in…”
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A novel likely pathogenic variant in the RUNX1 gene as the cause of congenital thrombocytopenia by Despotović, M, Pereza, N, Peterlin, B, Ostojić, S, Golob, B, Maver, A, Roganović, J

“…Heterozygous pathogenic and likely pathogenic sequence variants in the (Runt-related Transcription Factor 1) gene are a common genetic cause of decreased…”
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A novel variant in the LIPA gene associated with distinct phenotype by Sarajlija, A., Armengol, L., Maver, A., Kitic, I., Prokic, D., Cehic, M., Djuricic, M.S., Peterlin, B.

“…Deficiency of lysosomal acid lipase (LAL-D) is caused by biallelic pathogenic variants in the gene. Spectrum of LAL-D ranges from early onset of…”
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Family history as an important factor for stratifying participants in genetic studies of major depression by Zalar, B, Blatnik, A, Maver, A, Klemenc-Ketiš, Z, Peterlin, B

“…Depression is estimated to affect 350 million people worldwide. The World Mental Health Survey conducted in 17 countries found that, on average, about one in…”
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Clinical Experience of Neurological Mitochondrial Diseases in Children and Adults: A Single-Center Study by Rogac, M, Neubauer, D, Leonardis, L, Pecaric, N, Meznaric, M, Maver, A, Sperl, W, Garavaglia, BM, Lamantea, E, Peterlin, B

“…The goal of the study was to retrospectively evaluate a cohort of children and adults with mitochondrial diseases (MDs) in a single-center experience…”
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Polymorphism of the ADRB2 rs1042713 gene is not associated with spontaneous preterm birth: Analyses in a Slovenian sample and meta analysis by Peterlin, A, Maver, A, Jan, Z, Lovrecic, L, Tul, N, Peterlin, B

“…The β-2-adrenergic receptor ( ) gene has an important impact on smooth muscle relaxation, including the smooth muscles of the uterus. The results of previously…”
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Cataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular report by Allegrini, D, Penco, S, Pece, A, Autelitano, A, Montesano, G, Paci, S, Montanari, C, Maver, A, Peterlin, B, Damante, G, Rossetti, L

“…We report the ophthalmic findings of a patient with type Ia glycogen storage disease (GSD Ia), DiGeorge syndrome (DGS), cataract and optic nerve head drusen…”
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Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring by Paděrová, J., Holubová, A., Simandlová, M., Puchmajerová, A., Vlčková, M., Malíková, M., Pourová, R., Vejvalková, S., Havlovicová, M., Šenkeříková, M., Ptáková, N., Drábová, J., Geryk, J., Maver, A., Křepelová, A., Macek Jr, M.

“…Kabuki syndrome (KS) is a dominantly inherited disorder mainly due to de novo pathogenic variation in KMT2D or KDM6A genes. Initially, a representative cohort…”
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Integrative ‘Omic’ Approach Towards Understanding the Nature of Human Diseases by Peterlin, Borut, Maver, A

“…The combination of improving technologies for molecular interrogation of global molecular alterations in human diseases along with increases in computational…”
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Genetic variation in leptin and leptin receptor genes as a risk factor for idiopathic male infertility by Hodžić, A., Ristanović, M., Zorn, B., Tulić, C., Maver, A., Novaković, I., Plaseska‐Karanfilska, D., Peterlin, B.

“…Summary The aim of this study was to examine whether there is an association among genetic variability in leptin (LEP) and leptin receptor (LEPR) genes and…”
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Clinical Exome Sequencing as a Novel Tool for Diagnosing Loeys-Dietz Syndrome Type 3 by Blinc, A, Maver, A, Rudolf, G, Tasič, J, Pretnar Oblak, J, Berden, P, Peterlin, B

“…Objective/Background In rare genetic vascular syndromes the diagnosis may not be apparent from the phenotype, but might be important for proper management…”
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Genetic variation in osteopontin gene is associated with susceptibility to sarcoidosis in Slovenian population by Maver, A, Medica, I, Salobir, B, Tercelj, M, Peterlin, B

“…Sarcoidosis is a systemic inflammatory disease characterised by appearance of granulomas. Precise etiology has not been elucidated. Osteopontin (Opn) is a Th1…”
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Genetic variation in osteopontin gene is associated with susceptibility to sarcoidosis in Slovenian population by Maver, A, Medica, I, Salobir, B, Tercelj, M, Peterlin, B

“…Sarcoidosis is a systemic inflammatory disease characterised by appearance of granulomas. Precise etiology has not been elucidated. Osteopontin (Opn) is a Th1…”
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Lack of association of immune-response-gene polymorphisms with susceptibility to sarcoidosis in Slovenian patients by Maver, A, Medica, I, Salobir, B, Tercelj, M, Peterlin, B

“…Sarcoidosis is a chronic inflammatory disease, characterized by granulomatous inflammation, prominently involving the respiratory system. The etiology of this…”
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Peroxisome proliferator-activated receptor gamma/Pro12Ala polymorphism and peroxisome proliferator-activated receptor gamma coactivator-1 alpha/Gly482Ser polymorphism in patients with sarcoidosis by Maver, A, Medica, I, Salobir, B, Tercelj-Zorman, M, Sabovic, M, Petrovic, D, Peterlin, B

“…Reduced expression and activity of the peroxisome proliferator-activated receptor gamma (PPARG) have been measured in cells of bronchoalveolar lavage fluid in…”
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493P Gene prioritization for enhancing molecular diagnosis in rare muscle diseases of singletons by Lillback, V., Bergant, G., Di Feo, M., Bozović, I., Torella, A., Johari, M., Maver, A., Pelin, K., Santorelli, F., Nigro, V., Hackman, P., Peterlin, B., Udd, B., Savarese, M.

“…The molecular diagnosis of muscle diseases poses challenges due to phenotypic variability and genetic heterogeneity. Despite advances in sequencing, many cases…”
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Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia by Manzoni, Claudia, Kia, Demis A, Ferrari, Raffaele, Leonenko, Ganna, Costa, Beatrice, Saba, Valentina, Jabbari, Edwin, Tan, Manuela Mx, Albani, Diego, Alvarez, Victoria, Alvarez, Ignacio, Andreassen, Ole A, Angiolillo, Antonella, Arighi, Andrea, Baker, Matt, Benussi, Luisa, Bessi, Valentina, Binetti, Giuliano, Blackburn, Daniel J, Boada, Merce, Boeve, Bradley F, Borrego-Ecija, Sergi, Borroni, Barbara, Bråthen, Geir, Brooks, William S, Bruni, Amalia C, Caroppo, Paola, Bandres-Ciga, Sara, Clarimon, Jordi, Colao, Rosanna, Cruchaga, Carlos, Danek, Adrian, de Boer, Sterre Cm, de Rojas, Itziar, di Costanzo, Alfonso, Dickson, Dennis W, Diehl-Schmid, Janine, Dobson-Stone, Carol, Dols-Icardo, Oriol, Donizetti, Aldo, Dopper, Elise, Durante, Elisabetta, Ferrari, Camilla, Forloni, Gianluigi, Frangipane, Francesca, Fratiglioni, Laura, Kramberger, Milica G, Galimberti, Daniela, Gallucci, Maurizio, García-González, Pablo, Ghidoni, Roberta, Giaccone, Giorgio, Graff, Caroline, Graff-Radford, Neill R, Grafman, Jordan, Halliday, Glenda M, Hernandez, Dena G, Hjermind, Lena E, Hodges, John R, Holloway, Guy, Huey, Edward D, Illán-Gala, Ignacio, Josephs, Keith A, Knopman, David S, Kristiansen, Mark, Kwok, John B, Leber, Isabelle, Leonard, Hampton L, Libri, Ilenia, Lleo, Alberto, Mackenzie, Ian R, Madhan, Gaganjit K, Maletta, Raffaele, Marquié, Marta, Maver, Ales, Menendez-Gonzalez, Manuel, Milan, Graziella, Miller, Bruce L, Morris, Christopher M, Morris, Huw R, Nacmias, Benedetta, Newton, Judith, Nielsen, Jørgen E, Nilsson, Christer, Novelli, Valeria, Padovani, Alessandro, Pal, Suvankar, Pasquier, Florence, Pastor, Pau, Perneczky, Robert, Peterlin, Borut, Petersen, Ronald C, Piguet, Olivier, Pijnenburg, Yolande Al, Puca, Annibale A, Rademakers, Rosa, Rainero, Innocenzo, Reus, Lianne M, Richardson, Anna Mt, Riemenschneider, Matthias

“…Frontotemporal dementia (FTD) is the second most common cause of early-onset dementia after Alzheimer disease (AD). Efforts in the field mainly focus on…”
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