Cargando…

Clinical and Molecular Cytogenetic Characterisation of Children with Developmental Delay and Dysmorphic Features

INTRODUCTION: Developmental delay and dysmorphic features affect 1 – 3 % of paediatric population. In the last few years molecular cytogenetic high resolution techniques (comparative genomic hybridization arrays and single-nucleotide polymorphism arrays) have been proven to be a first-tier choice fo...

Descripción completa

Detalles Bibliográficos
Autores principales:	BERTOK, Sara, ŽERJAV TANŠEK, Mojca, KOTNIK, Primož, BATTELINO, Tadej, VOLK, Marija, PECILE, Vanna, CLEVA, Lisa, GASPARINI, Paolo, KOVAČ, Jernej, HOVNIK, Tinka
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	De Gruyter Open 2015
Materias:	Original Scientific Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4820169/ https://www.ncbi.nlm.nih.gov/pubmed/27646910 http://dx.doi.org/10.1515/sjph-2015-0010

Ejemplares similares

Cytogenetic and Molecular Genetic Characterization of Children with Short Stature
por: HOVNIK, Tinka, et al.
Publicado: (2015)

Characterization of a de novo sSMC 17 detected in a girl with developmental delay and dysmorphic features
por: Stavber, Lana, et al.
Publicado: (2017)

Association of Average Telomere Length with Body-Mass Index and Vitamin D Status in Juvenile Population with Type 1 Diabetes
por: TESOVNIK, Tine, et al.
Publicado: (2015)

Two Cases With an Early Presented Proopiomelanocortin Deficiency—A Long-Term Follow-Up and Systematic Literature Review
por: Gregoric, Nadan, et al.
Publicado: (2021)

Heterozygous NPR2 Variants in Idiopathic Short Stature
por: Stavber, Lana, et al.
Publicado: (2022)

Non-alcoholic fatty liver disease in a pediatric patient with heterozygous familial hypobetalipoproteinemia due to a novel APOB variant: a case report and systematic literature review
por: Molk, Neza, et al.
Publicado: (2023)

Detection of Del/Dup Inside SHOX/PAR1 Region in Children and Young Adults with Idiopathic Short Stature
por: Stritar, Jera, et al.
Publicado: (2021)

Long-Term Follow-Up of Three Family Members with a Novel NNT Pathogenic Variant Causing Primary Adrenal Insufficiency
por: Krasovec, Tjasa, et al.
Publicado: (2022)

Central TSH Dysregulation in a Patient with Familial Non-Autoimmune Autosomal Dominant Hyperthyroidism Due to a Novel Thyroid-Stimulating Hormone Receptor Disease-Causing Variant
por: Suput Omladic, Jasna, et al.
Publicado: (2021)

Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia – A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant
por: Sikonja, Jaka, et al.
Publicado: (2021)

Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
por: Saho, Robert, et al.
Publicado: (2023)

Drafting a blueprint for the design of a rare disease ecosystem in Slovenia: Identifying salient opportunities and outlining policy recommendations
por: Stanimirovic, Dalibor, et al.
Publicado: (2021)

Towards a Comprehensive Strategy for the Management of Rare Diseases in Slovenia: Outlining an IT-Enabled Ecosystemic Approach
por: Stanimirovic, Dalibor, et al.
Publicado: (2021)

A patient with glycogen storage disease type 0 and a novel sequence variant in GYS2: a case report and literature review
por: Arko, Janez Jan, et al.
Publicado: (2020)

Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review
por: Štajer, Katarina, et al.
Publicado: (2023)

Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening
por: Smon, Andraz, et al.
Publicado: (2018)

Compound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A
por: Kavčič, Alja, et al.
Publicado: (2022)

Newborn Screening in Slovenia
por: ŠMON, Andraž, et al.
Publicado: (2015)

An Adolescent Boy with Klinefelter Syndrome and 47,XXY/46,XX Mosaicism: Case Report and Review of Literature
por: Hovnik, Tinka, et al.
Publicado: (2022)

A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD)
por: Lampret, Barbka Repic, et al.
Publicado: (2015)

Data on phenylalanine-to-tyrosine ratios in assessment of tetrahydrobiopterin (BH(4))-responsiveness in patients with hyperphenylalaninemia
por: Lampret, Barbka Repic, et al.
Publicado: (2022)

Early Discovery of Children With Lysosomal Acid Lipase Deficiency With the Universal Familial Hypercholesterolemia Screening Program
por: Sustar, Ursa, et al.
Publicado: (2022)

High frequency of pathogenic ACAN variants including an intragenic deletion in selected individuals with short stature
por: Stavber, L, et al.
Publicado: (2019)

Data highlighting effects of Ketogenic diet on cardiomyopathy and hepatopathy in Glycogen storage disease Type IIIA
por: Marusic, Tatiana, et al.
Publicado: (2020)

Anthropometry and bone mineral density in treated and untreated hyperphenylalaninemia
por: Zerjav Tansek, Mojca, et al.
Publicado: (2020)

Normalization of obstructive cardiomyopathy and improvement of hepatopathy on ketogenic diet in patient with glycogen storage disease (GSD) type IIIa
por: Marusic, Tatiana, et al.
Publicado: (2020)

Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: High Incidence of Detected Patients With Expanded Newborn Screening Program
por: Remec, Ziga I., et al.
Publicado: (2021)

Expanded Newborn Screening Program in Slovenia using Tandem Mass Spectrometry and Confirmatory Next Generation Sequencing Genetic Testing
por: Lampret, Barbka Repič, et al.
Publicado: (2020)

Selective Screening for Metabolic Disorders in the Slovenian Pediatric Population
por: Lampret, Barbka Repič, et al.
Publicado: (2015)

Genetic Polymorphisms in Genes Encoding Antioxidant Enzymes Are Associated With Diabetic Retinopathy in Type 1 Diabetes
por: Hovnik, Tinka, et al.
Publicado: (2009)

Reye Syndrome with Severe Hyperammonemia and a Good Neurological Outcome
por: Pribožič, Lucija, et al.
Publicado: (2021)

Hypercholesterolemia in Two Siblings with Resistance to Thyroid Hormones Due to Disease-Causing Variant in Thyroid Hormone Receptor (THRB) Gene
por: Pajek, Maja, et al.
Publicado: (2020)

Heterozygous Genetic Variants in Autosomal Recessive Genes of the Leptin-Melanocortin Signalling Pathway Are Associated With the Development of Childhood Obesity
por: Šket, Robert, et al.
Publicado: (2022)

Dual Role of PTPN22 but Not NLRP3 Inflammasome Polymorphisms in Type 1 Diabetes and Celiac Disease in Children
por: Smigoc Schweiger, Darja, et al.
Publicado: (2019)

Stabilization of Overweight and Obesity in Slovenian Adolescents and Increased Risk in Those Entering Non-Grammar Secondary Schools
por: Sedej, Katarina, et al.
Publicado: (2016)

Precocious puberty in a girl with 3-methylglutaconic aciduria type 1 (3-MGA-I) due to a novel AUH gene mutation
por: Bizjak, Neli, et al.
Publicado: (2020)

Novel Insights Into Monogenic Obesity Syndrome Due to INPP5E Gene Variant: A Case Report of a Female Patient
por: Drole Torkar, Ana, et al.
Publicado: (2021)

Carotid Intima-Media Thickness in Healthy Children and Adolescents: Normative Data and Systematic Literature Review
por: Drole Torkar, Ana, et al.
Publicado: (2020)

Does intervention with GLP-1 receptor agonist semaglutide modulate perception of sweet taste in women with obesity: study protocol of a randomized, single-blinded, placebo-controlled clinical trial
por: Jensterle, Mojca, et al.
Publicado: (2021)

Optimizing the Phenylalanine Cut-Off Value in a Newborn Screening Program
por: Perko, Dasa, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_2lqk2t2km9aec0ivtcs2kqh3l6