Search Results - "Felszeghy, Eniko"

Early Corneal Cellular and Nerve Fiber Pathology in Young Patients With Type 1 Diabetes Mellitus Identified Using Corneal Confocal Microscopy by Szalai, Eszter, Deák, Eszter, Módis, Jr, László, Németh, Gábor, Berta, András, Nagy, Annamária, Felszeghy, Eniko, Káposzta, Rita, Malik, Rayaz A, Csutak, Adrienne

“…The aim of this study was to quantify epithelial, stromal, and endothelial cell density, and subbasal nerve morphology in young patients with type 1 diabetes…”
Get full text

The associations between mental health, health-related quality of life and insulin pump therapy among children and adolescents with type 1 diabetes by Munkácsi, Brigitta, Papp, Gábor, Felszeghy, Enikő, Nagy, Beáta Erika, Kovács, Karolina Eszter

“…Background Diabetes has previously been linked to mental health problems in children and adolescents, but more recent studies have yielded mixed findings. The…”
Get more information

Measurement Properties of the Hungarian Version of the Pediatric Quality of Life Inventory 4.0: Health Related Quality of Life and Associated Characteristics of the School Children in Hungary by Berkes, Andrea, Riszter, Magdolna, Felszeghy, Enikő, Pataki, István, Mogyorósy, Gábor

“…This study aimed to evaluate health-related quality of life (HRQOL) of Hungarian schoolchildren aged 8–18 years and in a representative urban sample. An…”
Get full text

Examination of the Illness Representations among Children with T1DM in Relation to Mental Health Factors by Munkácsi, Brigitta, Felszeghy, Enikő, Kenyhercz, Flóra, Erika Nagy, Beáta

Get full text

Loss-of-Function Variants in a Hungarian Cohort Reveal Structural Insights on TSH Receptor Maturation and Signaling by Lábadi, Árpád, Grassi, Elisa Stellaria, Gellén, Balázs, Kleinau, Gunnar, Biebermann, Heike, Ruzsa, Beáta, Gelmini, Giulia, Rideg, Orsolya, Miseta, Attila, Kovács, Gábor L, Patócs, Attila, Felszeghy, Enikő, Nagy, Endre V, Mezősi, Emese, Persani, Luca

“…Context: Congenital hypothyroidism (CH) is one of the most common inborn endocrine disorders with genetic background. Despite the well-established newborn CH…”
Get full text

Pediatric myocarditis: A sentinel of non-cardiac chronic diseases? by Mogyorósy, Gábor, Felszeghy, Enikő, Kovács, Tamás, Berkes, Andrea, Tóth, László, Balla, György, Korponay-Szabó, Ilma

“…Although long-term outcome studies in large pediatric myocarditis/cardiomyopathy populations have been reported in literature, none of them focused on…”
Get full text

Deletion 15q26 syndrome by Szakszon, Katalin, Ujfalusi, Anikó, Balogh, Erzsébet, Mogyorósy, Gábor, Felszeghy, Enikő, Szilvássy, Judit, Horkay, Edit, Berényi, Ervin, Merő, Gabriella, Knegt, Alida C

“…The association of short stature, microcephaly, congenital cardiac anomaly and intellectual deficit should always raise the suspicion of chromosomal etiology…”
Get more information

Stimulator of Interferon Genes (STING) Triggers Adipocyte Autophagy by Varga, Kornél Z, Gyurina, Katalin, Radványi, Ádám, Pál, Tibor, Sasi-Szabó, László, Yu, Haidong, Felszeghy, Enikő, Szabó, Tamás, Röszer, Tamás

“…Innate immune signaling in adipocytes affects systemic metabolism. Cytosolic nucleic acid sensing has been recently shown to stimulate thermogenic adipocyte…”
Get full text

A Comprehensive Analysis of Hungarian MODY Patients—Part II: Glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases by Gaál, Zsolt, Szűcs, Zsuzsanna, Kántor, Irén, Luczay, Andrea, Tóth-Heyn, Péter, Benn, Orsolya, Felszeghy, Enikő, Karádi, Zsuzsanna, Madar, László, Balogh, István

“…MODY2 is caused by heterozygous inactivating mutations in the glucokinase (GCK) gene that result in persistent, stable and mild fasting hyperglycaemia (5.6–8.0…”
Get full text

A Comprehensive Analysis of Hungarian MODY Patients—Part I: Gene Panel Sequencing Reveals Pathogenic Mutations in HNF1A, HNF1B, HNF4A, ABCC8 and INS Genes by Gaál, Zsolt, Szűcs, Zsuzsanna, Kántor, Irén, Luczay, Andrea, Tóth-Heyn, Péter, Benn, Orsolya, Felszeghy, Enikő, Karádi, Zsuzsanna, Madar, László, Balogh, István

“…Maturity-onset diabetes of the young (MODY) has about a dozen known causal genes to date, the most common ones being HNF1A, HNF4A, HNF1B and GCK. The phenotype…”
Get full text

A novel splice site indel alteration in the EIF2AK3 gene is responsible for the first cases of Wolcott-Rallison syndrome in Hungary by Sümegi, Andrea, Hendrik, Zoltán, Gáll, Tamás, Felszeghy, Enikő, Szakszon, Katalin, Antal-Szalmás, Péter, Beke, Lívia, Papp, Ágnes, Méhes, Gábor, Balla, József, Balla, György

“…Wolcott-Rallison Syndrome (WRS) is a rare autosomal recessive disease that is the most common cause of neonatal diabetes in consanguineous families. WRS is…”
Get full text

Endocrine and anatomical findings in a case of Solitary Median Maxillary Central Incisor Syndrome by Szakszon, Katalin, Felszeghy, Enikő, Csízy, István, Józsa, Tamás, Káposzta, Rita, Balogh, Erzsébet, Oláh, Éva, Balogh, István, Berényi, Ervin, Knegt, Alida C, Ilyés, István

“…Abstract Solitary Median Maxillary Central Incisor Syndrome (SMMCI) is a rare malformation syndrome consisting of multiple, mainly midline defects. Some…”
Get full text

Twenty-one years of prospective incidence of childhood type 1 diabetes in Hungary - the rising trend continues (or peaks and highlands?) by Gyurus, Eva Krisztina, Patterson, Chris, Soltesz, Gyula

“…Gyurus EK, Patterson C, Soltesz G and the Hungarian Childhood Diabetes Epidemiology Group. Twenty‐one years of prospective incidence of childhood type 1…”
Get full text

The prevalence of SHOX gene deletion in children with idiopathic short stature. A multicentric study by Dávid, Anna, Butz, Henriett, Halász, Zita, Török, Dóra, Nyirő, Gábor, Muzsnai, Ágota, Csákváry, Violetta, Luczay, Andrea, Sallai, Ágnes, Hosszú, Éva, Felszeghy, Enikő, Tar, Attila, Szántó, Zsuzsanna, Fekete, Gy László, Kun, Imre, Patócs, Attila, Bertalan, Rita

“…The isolated haploinsufficiency of the SHOX gene is one of the most common cause of short stature determined by monogenic mutations. The heterozygous deviation…”
Get more information