Anna Lengyel
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View article: Cancer Risk in Vitiligo: No Evidence of Increased Prevalence—A Systematic Review and Meta-analysis
Cancer Risk in Vitiligo: No Evidence of Increased Prevalence—A Systematic Review and Meta-analysis Open
This meta-analysis did not identify significant differences in cancer risk across the examined subgroups. While a protective effect of vitiligo against some malignancies cannot be excluded, substantial heterogeneity among studies warrants …
View article: Efficacy and Safety of JAK Inhibitors in the Management of Vitiligo: A Systematic Review and Meta-analysis
Efficacy and Safety of JAK Inhibitors in the Management of Vitiligo: A Systematic Review and Meta-analysis Open
View article: Maternal uniparental disomy of chromosome 7: how chromosome 7-encoded imprinted genes contribute to the Silver–Russell phenotype
Maternal uniparental disomy of chromosome 7: how chromosome 7-encoded imprinted genes contribute to the Silver–Russell phenotype Open
View article: Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot Study
Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot Study Open
To assess the suitability of genome sequencing (GS) as the second step in the diagnostics of patients with the features of 11p15.5‐associated imprinting disorders (ImpDis: Silver–Russell syndrome [SRS], Beckwith–Wiedemann syndrome [BWS]), …
View article: Safety and Efficacy Analysis of Targeted and Immune Combination Therapy in Advanced Melanoma—A Systematic Review and Network Meta-Analysis
Safety and Efficacy Analysis of Targeted and Immune Combination Therapy in Advanced Melanoma—A Systematic Review and Network Meta-Analysis Open
The combinations of BRAF inhibitor-based targeted therapies with immune checkpoint inhibitors currently represent less common therapeutic approaches in advanced melanoma. The aim of this study was to assess the safety and efficacy of curre…
View article: MITF regulates IDH1, NNT, and a transcriptional program protecting melanoma from reactive oxygen species
MITF regulates IDH1, NNT, and a transcriptional program protecting melanoma from reactive oxygen species Open
View article: Predicting immune checkpoint therapy response in three independent metastatic melanoma cohorts
Predicting immune checkpoint therapy response in three independent metastatic melanoma cohorts Open
Introduction While Immune checkpoint inhibition (ICI) therapy shows significant efficacy in metastatic melanoma, only about 50% respond, lacking reliable predictive methods. We introduce a panel of six proteins aimed at predicting response…
View article: Predicting immune checkpoint therapy response in three independent metastatic melanoma cohorts
Predicting immune checkpoint therapy response in three independent metastatic melanoma cohorts Open
While Immune checkpoint inhibition (ICI) therapy shows significant efficacy in metastatic melanoma, only about 50% respond, lacking reliable predictive methods. We introduce a panel of six proteins aimed at predicting response to ICI thera…
View article: #1558 Mutational spectrum of X-linked hypophosphatemia (XLH) in Hungarian patients
#1558 Mutational spectrum of X-linked hypophosphatemia (XLH) in Hungarian patients Open
Background and Aims X-linked hypophosphatemia (XLH), the most common form of hypophosphatemic rickets, is caused by genetic alterations in the PHEX gene. Prevalence of the X-linked disease is ∼1/20,000. The PHEX gene has 22 exons and encod…
View article: Efficacy and Safety of Triple Therapy in Advanced Melanoma — a Systematic Review and Network Meta-Analysis
Efficacy and Safety of Triple Therapy in Advanced Melanoma — a Systematic Review and Network Meta-Analysis Open
View article: MITF regulates IDH1 and NNT and drives a transcriptional program protecting cutaneous melanoma from reactive oxygen species
MITF regulates IDH1 and NNT and drives a transcriptional program protecting cutaneous melanoma from reactive oxygen species Open
Microphthalmia-associated transcription factor (MITF) plays pivotal roles in melanocyte development, function, and melanoma pathogenesis. MITF amplification occurs in melanoma and has been associated with resistance to targeted therapies. …
View article: A Cross-Sectional Study of the Dermatological Manifestations of Patients with Fabry Disease and the Assessment of Angiokeratomas with Multimodal Imaging
A Cross-Sectional Study of the Dermatological Manifestations of Patients with Fabry Disease and the Assessment of Angiokeratomas with Multimodal Imaging Open
Fabry disease (FD) is a multisystemic X-linked lysosomal storage disease that presents with angiokeratomas (AKs). Our objective was to investigate the clinical and morphologic features of AKs and to present two experimental techniques, mul…
View article: Oral sialic acid supplementation in<scp>NANS‐CDG</scp>: Results of a single center, open‐label, observational pilot study
Oral sialic acid supplementation in<span>NANS‐CDG</span>: Results of a single center, open‐label, observational pilot study Open
NANS‐CDG is a congenital disorder of glycosylation (CDG) caused by biallelic variants in NANS , encoding an essential enzyme in de novo sialic acid synthesis. It presents with intellectual developmental disorder (IDD), skeletal dysplasia, …
View article: Clinical evaluation of rare copy number variations identified by chromosomal microarray in a Hungarian neurodevelopmental disorder patient cohort
Clinical evaluation of rare copy number variations identified by chromosomal microarray in a Hungarian neurodevelopmental disorder patient cohort Open
View article: Clinical evaluation of rare copy number variations identified by chromosomal microarray in a Hungarian neurodevelopmental disorder patient cohort
Clinical evaluation of rare copy number variations identified by chromosomal microarray in a Hungarian neurodevelopmental disorder patient cohort Open
Background: Neurodevelopmental disorders are genetically heterogeneous pediatric conditions. The first tier diagnostic method for uncovering copy number variations (CNVs), one of the most common genetic etiologies in affected individuals, …
View article: Pre- and perinatal aspects of sex chromosome abnormalities and other gonadal dysgeneses
Pre- and perinatal aspects of sex chromosome abnormalities and other gonadal dysgeneses Open
Introduction: Sex chromosome aberrations (SCAs) and other gonadal dysgeneses (OGDs) compose a huge part of disorders of sex development (DSD), but a comprehensive pre- and perinatal picture of this wide spectrum is missing. Our aim was to …
View article: Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes
Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes Open
Background Silver-Russell syndrome (SRS) is a genetic disorder characterized by intrauterine and postnatal growth restriction, relative macrocephaly at birth, body asymmetry and typical facial features. Clinical and molecular heterogeneity…
View article: Clinical evaluation of rare copy number variations identified by chromosomal microarray in a Hungarian neurodevelopmental disorder patient cohort
Clinical evaluation of rare copy number variations identified by chromosomal microarray in a Hungarian neurodevelopmental disorder patient cohort Open
Background: Neurodevelopmental disorders are genetically heterogeneous pediatric conditions. The first tier diagnostic method for uncovering copy number variations (CNVs), one of the most common genetic etiologies in affected individuals, …
View article: A 22q11.2-microdeletiós szindróma klinikai jellemzői
A 22q11.2-microdeletiós szindróma klinikai jellemzői Open
Összefoglaló. Bevezetés: A sokszínű tünetspektrummal jellemezhető DiGeorge-szindróma leggyakoribb oka a 22q11.2-microdeletio; incidenciája 1/4000–6000. Célkitűzés: A DiGeorge-szindrómára gyanús hazai betegcsoport 22q11.2-microdeletióval tá…
View article: Diagnostic difficulties and possibilities of NF1-like syndromes in childhood
Diagnostic difficulties and possibilities of NF1-like syndromes in childhood Open
View article: NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum
NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum Open
Background: NANS-CDG is a recently described congenital disorder of glycosylation caused by biallelic genetic variants in NANS , encoding an essential enzyme in de novo sialic acid synthesis. Sialic acid at the end of glycoconjugates plays…
View article: Deletion of 16q22.2q23.3 in a Boy with a Phenotype Reminiscent of Silver-Russell Syndrome
Deletion of 16q22.2q23.3 in a Boy with a Phenotype Reminiscent of Silver-Russell Syndrome Open
A 15-month-old boy presented with growth and global developmental delay, feeding difficulties, sleep disturbance and several minor anomalies, including a large anterior fontanel, relative macrocephaly, and a triangular face. Clinical suspi…
View article: Supplementary Material for: Deletion of 16q22.2q23.3 in a Boy with a Phenotype Reminiscent of Silver-Russell Syndrome
Supplementary Material for: Deletion of 16q22.2q23.3 in a Boy with a Phenotype Reminiscent of Silver-Russell Syndrome Open
A 15-month-old boy presented with growth and global developmental delay, feeding difficulties, sleep disturbance and several minor anomalies, including a large anterior fontanel, relative macrocephaly, and a triangular face. Clinical suspi…
View article: Clinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literature
Clinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literature Open
The short arm of chromosome 16 (16p) is enriched for segmental duplications, making it susceptible to recurrent, reciprocal rearrangements implicated in the etiology of several phenotypes, including intellectual disability, speech disorder…
View article: Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome
Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome Open
Background Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder caused by disturbances of the chromosomal region 11p15.5. The most frequent molecular finding in BWS is loss of methylation (LOM) of the Imprinting Centre 2 (IC2) regio…
View article: What should we consider in the case of combined Down- and 47,XY,+i(X)(q10) Klinefelter syndromes? The unique case of a male newborn and review of the literature
What should we consider in the case of combined Down- and 47,XY,+i(X)(q10) Klinefelter syndromes? The unique case of a male newborn and review of the literature Open
Background Double aneuploidies - especially in combination with structural aberrations - are extremely rare among liveborns. The most frequent association is that of Down (DS) and Klinefelter syndromes (KS). We present the case of a male n…
View article: 9p triszómia és a klinikai sokszínűség: egy váratlan megjelenésű eset ismertetése
9p triszómia és a klinikai sokszínűség: egy váratlan megjelenésű eset ismertetése Open
Whole or partial trisomy of the short arm of chromosome 9 (9p) is considered to be one of the more frequent chromosome abnormalities compatible with life. The duplication may affect various organs, however the most common symptoms are cert…
View article: Nemi kromoszóma-rendellenességek vizsgálata gyermekkorban
Nemi kromoszóma-rendellenességek vizsgálata gyermekkorban Open
Introduction: Early diagnosis of sex chromosome abnormalities is important because of prevention, family planning and optimal therapy. Aim: Investigation of the relationship between phenotype, age at time of diagnosis and therapeutic optio…