Search Results - "Bembea, Marius"

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

A Review of Genetic Diversity Based on the Y Chromosome in the Romanian Population by Hodișan, Ramona, Zaha, Dana C, Jurca, Claudia, Petchesi, Codruta D, Bembea, Marius

“…Y chromosome analysis is used in a number of practical applications, including investigations of criminal cases, establishment of paternity, searching for…”
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

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

Orthodontic Adolescent Patients' Attitudes toward Protective Face Mask Wearing during the COVID-19 Pandemic by Cherecheș, Jessica Olivia, Vaida, Luminița Ligia, Moca, Abel Emanuel, Dima, Raluca, Ciavoi, Gabriela, Bembea, Marius

“…The COVID-19 pandemic led to restrictive measures, which aimed to limit the spread of the SARS-CoV-2 virus. These restrictions impacted all areas of life,…”
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

SERUM LEPTIN LEVELS AND PANCREATIC ENDOCRINE FUNCTION IN BARIATRIC PATIENTS by Dejeu, Paula, Dejeu, Viorel, Dejeu, Dănuț, Bembea, Marius

“…Background. Leptin is a hormone synthetized and secreted by the adipose tissue, with a regulating role in the neuro-endocrine-metabolic functions in humans…”
Get full text

Dento-facial aesthetics in the eyes of adolescent patients during the Covid-19 pandemic by Cherecheş, Jessica Olivia, Moca, Abel Emanuel, Vaida, Luminiţa Ligia, Bembea, Marius

“…Introduction: Dental malocclusions are considered a major issue in adolescence, and are often the main reason for which patients go to the dentist…”
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

The Attitudes of Children Undergoing Orthodontic Treatment toward Face Mask Wearing during the COVID-19 Pandemic: A Cross Sectional Study by Cherecheș, Jessica Olivia, Ciavoi, Gabriela, Moca, Abel Emanuel, Iurcov, Raluca, Dima, Raluca, Bembea, Marius, Vaida, Luminița Ligia

“…During the COVID-19 pandemic, the protective face mask has proven to be essential. The protective face masks cover the lower part of the face, including teeth…”
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

A rare but treatable inborn error of metabolism: Arginine glycine amidinotransferase (AGAT) deficiency by Pintilie, Sebastian Romeo, Fodor, Adriana, Bembea, Marius, Petchesi, Codruța Diana, Grad, Simona, Damian, Laura, Vulturar, Romana

“…AGAT deficiency is a rare and treatable autosomal recessive disorder. The symptoms are early-onset developmental mild to moderate intellectual disability,…”
Get full text

Bariatric surgery metabolic effects in obese individuals associating insulin resistance status by Dejeu, Paula, Dejeu, Viorel, Bembea, Marius

“…Background and aims. Metabolic syndrome or insulin-resistance syndrome is an obesity related condition that increases the risk of developing type 2 diabetes…”
Get full text

Minor congenital ocular anomalies as somatic markers in genetic disorders by Nemes-Dragan, Iulia-Andrada, Dragan, Ana-Maria, Bembea, Marius

“…Introduction. Minor congenital ocular anomalies (MCOA) are important markers for the detection of certain genetic disorders. Even within the same disease, they…”
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 4 meters Bruckner test: An important tool in amblyopia screening of children with intellectual disability by Nemes-Dragan, Iulia-Andrada, Dragan, Ana-Maria, Bembea, Marius

“…The screening of amblyopia in children with special should be performed with a rapid and objective examination, such as the Bruckner test. The hypothesis was…”
Get full text

Testul Bruckner la 4 metri: Un instrument important în screening-ul ambliopiei la copiii cu dizabilități intelectuale by Nemeș-Drăgan, Iulia-Andrada, Drăgan, Ana-Maria, Bembea, Marius

“…Introducere. Screening-ul ambliopiei la copiii cu nevoi speciale trebuie să fie realizat cu teste rapide și obiective, cum este testul Bruckner. Ipoteza…”
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