Search Results - "Jurca, Claudia"

Epidemiological aspects in phenylketonuria patients from a region in northwestern Romania by Iuhas, Alin Remus, Jurca, Claudia, Bembea, Marius

“…Introduction. Phenylketonuria (PKU), a genetic disease with autosomal dominant transmission, is the most frequent inborn error in aminoacidic metabolism. The…”
Get full text

Exome sequencing in a Romanian Bardet‐Biedl syndrome cohort revealed an overabundance of causal BBS12 variants by Khan, Sheraz, Focșa, Ina Ofelia, Budișteanu, Magdalena, Stoica, Cristina, Nedelea, Florina, Bohîlțea, Laurențiu, Caba, Lavinia, Butnariu, Lăcrămioara, Pânzaru, Monica, Rusu, Cristina, Jurcă, Claudia, Chirita‐Emandi, Adela, Bănescu, Claudia, Abbas, Wasim, Sadeghpour, Azita, Baig, Shahid Mahmood, Bălgrădean, Mihaela, Davis, Erica E.

“…Bardet‐Biedl syndrome (BBS), is an emblematic ciliopathy hallmarked by pleiotropy, phenotype variability, and extensive genetic heterogeneity. BBS is a rare…”
Get full text

Genetic variation in phenylketonuria: analysis of the PAHvdb database by Iuhas, Alin Remus, Jurca, Claudia, Bembea, Marius

“…Introduction. Phenylketonuria (PKU) is the most frequent inborn metabolism error. The principal determinant factor for the metabolic phenotype in PKU is the…”
Get full text

Genetic Diversity Based on Human Y Chromosome Analysis: A Bibliometric Review Between 2014 and 2023 by Hodișan, Ramona, Zaha, Dana C, Jurca, Claudia M, Petchesi, Codruta D, Bembea, Marius

“…The Y chromosome has gained significant importance in the examination of genetic studies of populations because of its non-recombinant character and its form…”
Get full text

Genotype-phenotype correlation in phenylketonuria by Iuhas, Alin Remus, Jurca, Claudia, Bembea, Marius

“…Introduction. Phenylketonuria is an inborn metabolism error with a high phenotypical variability, due in part to the large number of implicated genetical…”
Get full text

P390 Neonatal mitochondrial encephalocardiomyopathy – case report by Claudia, Jurca, Bogdan, Dima, Marius, Bembea, Eniko, Bereki, Ariana, Szilagyi, Andreea, Balmos, Alexandru, Jurca

“…BackgroundNeonatal mitochondrial encephalocardiomyopathy (OMIM, 614052) is due to a mutation of transmembrane protein 70 gene (TMEM70). TMEM70 encodes a…”
Get full text

Bioethical aspects in type I neurofibromatosis by Petchesi, Codruța Diana, Ciavoi, Gabriela, Jurca, Claudia, Vulturar, Romana, Bembea, Marius

“…Type I neurofibromatosis is one of the most common monogenic disorders, being caused by abnormalities of the neurofibromin gene on chromosome 17. About half of…”
Get full text

Difficulties in the management of an Askin tumor in a pediatric patient with cystic fibrosis: case report and literature review by Marinău, Cristian, Csep, Andrei, Sava, Cristian, Iuhas, Alin, Niulaș, Larisa, Szilagyi, Ariana, Ritli, Ladislau, Balmoș, Andreea, Jurca, Claudia

“…Treating Ewing's Sarcoma of the thorax (Askin's tumor) with antineoplastic therapy in a malnourished cystic fibrosis patient colonized with Pseudomonas…”
Get full text

PAH Pathogenic Variants and Clinical Correlations in a Group of Hyperphenylalaninemia Patients from North-Western Romania by Iuhas, Alin, Jurca, Claudia, Kozma, Kinga, Riza, Anca-Lelia, Streață, Ioana, Petcheși, Codruța, Dan, Andra, Sava, Cristian, Balmoș, Andreea, Marinău, Cristian, Niulaș, Larisa, Ioana, Mihai, Bembea, Marius

“…Phenylketonuria (PKU) is caused by mutations in the phenylalanine hydroxylase ( ) gene and is characterized by altered amino acid metabolism. More than 1500…”
Get full text

Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review by Kozma, Kinga, Bembea, Marius, Jurca, Claudia M, Ioana, Mihai, Streață, Ioana, Şoşoi, Simona Ş, Pirvu, Andrei, Petchesi, Codruța D, Szilágyi, Ariana, Sava, Cristian N, Jurca, Alexandru, Ujfalusi, Anikó, Szűcs, Zsuzsanna, Szakszon, Katalin

“…Greig cephalopolysyndactyly syndrome (GCPS) is a rare genetic disorder (about 200 cases reported), characterized by macrocephaly, hypertelorism, and…”
Get full text

Treatment of Epilepsy Associated with Common Chromosomal Developmental Diseases by Budisteanu, Magdalena, Jurca, Claudia, Papuc, Sorina Mihaela, Focsa, Ina, Riga, Dan, Riga, Sorin, Jurca, Alexandru, Arghir, Aurora

“…Chromosomal diseases are heterogeneous conditions with complex phenotypes, which include also epileptic seizures. Each chromosomal syndrome has a range of…”
Get full text

DOWN SYNDROME – LONGITUDINAL STUDY OF CLINICAL EVOLUTION AND PSYCHO-SOCIAL IMPLICATIONS by Petchesi, Codruța Diana, Ciavoi, Gabriela, Feier, Florentina, Iuhas, Oana Alexandra, Kozma, Kinga, Jurca, Claudia, Bembea, Marius

“…Introduction. Down syndrome is the most common chromosomal disorder, with a worldwide frequency of 1 case in 700 live births. Objectives. Starting from the…”
Get full text

The Role of Aminopeptidase ERAP1 in Human Pathology-A Review by Țiburcă, Laura, Zaha, Dana Carmen, Jurca, Maria Claudia, Severin, Emilia, Jurca, Aurora, Jurca, Alexandru Daniel

“…Aminopeptidases are a group of enzymatic proteins crucial for protein digestion, catalyzing the cleavage of amino acids at the N-terminus of peptides. Among…”
Get full text

Clinical Aspects of a Rare Disease: Bardet Biedl Syndrome by FOCSA, Ina Ofelia, BUDISTEANU, Magdalena, STOICA, Cristina, NEDELEA, Florina, JURCA, Claudia, CABA, Lavinia, PANZARU, Monica, RUSU, Cristina, BALGRADEAN, Mihaela, BUTNARIU, Lacramioara

“…Bardet Biedl syndrome (BBS) is a rare primary ciliopathy with a complex and extremely variable clinical presentation. The core features of the disease are…”
Get full text

Wolfram Syndrome Type I Case Report and Review-Focus on Early Diagnosis and Genetic Variants by Jurca, Alexandru Daniel, Galea-Holhos, Larisa Bianca, Jurca, Aurora Alexandra, Atasie, Diter, Petchesi, Codruta Diana, Severin, Emilia, Jurca, Claudia Maria

“…: Wolfram syndrome type 1 (OMIM# 222300; ORPHAcode 3463) is an extremely rare autosomal recessive syndrome with a 25% recurrence risk in children. It is…”
Get full text

The Treatment with Interleukin 17 Inhibitors and Immune-Mediated Inflammatory Diseases by Țiburcă, Laura, Bembea, Marius, Zaha, Dana Carmen, Jurca, Alexandru Daniel, Vesa, Cosmin Mihai, Rațiu, Ioana Adela, Jurca, Claudia Maria

“…IL-17 inhibitors (IL-17i) are medicines used to treat dermatological and rheumatic diseases They belong to a class of medicines called biological…”
Get full text

Proposal of a Novel Risk Score for Determination of Coronary Artery Disease Risk in Newly Diagnosed Diabetes Patients by Cosmin Mihai VESA, RADU, Carmen, POPA, Loredana, JURCA, Claudia, DAINA, Lucia, BALA, Cornelia, ROMAN, Gabriela, MOISI, Mădălina, POPA, Amorin, POPOVICIU, Mihaela, FERICIAN, Anca, ZAHA, Dana

Get full text

Legal medicine implications in fibrinolytic therapy of acute ischemic stroke by Sabau, Monica, Bungau, Simona, Buhas, Camelia Liana, Carp, Gheorghe, Daina, Lucia-Georgeta, Judea-Pusta, Claudia Teodora, Buhas, Bogdan Adrian, Jurca, Claudia Maria, Daina, Cristian Marius, Tit, Delia Mirela

“…Before the advent of fibrinolytic therapy as a gold standard method of care for cases of acute ischemic stroke in Romania, issues regarding legal medicine…”
Get full text

OC-86Paediatric practice in the genomic era by Bembea, Marius, Jurca, Claudia

“…Deciphering the human genome in 2001 was followed by an extraordinary development of techniques for genomics studies over the last decade. The impact of these…”
Get full text

OC-86 Paediatric practice in the genomic era by Bembea, Marius, Jurca, Claudia

“…Deciphering the human genome in 2001 was followed by an extraordinary development of techniques for genomics studies over the last decade. The impact of these…”
Get full text