Cargando…

Detection of Del/Dup Inside SHOX/PAR1 Region in Children and Young Adults with Idiopathic Short Stature

Short stature is a common growth disorder defined as a body height two standard deviations (SD) or more below the mean for a given age, gender, and population. A large part of the cases remains unexplained and is referred to as having idiopathic short stature (ISS). One of the leading genetic causes...

Descripción completa

Detalles Bibliográficos
Autores principales:	Stritar, Jera, Stavber, Lana, Ficko, Maja, Kotnik, Primož, Battelino, Tadej, Trebušak Podkrajšek, Katarina, Hovnik, Tinka
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8535414/ https://www.ncbi.nlm.nih.gov/pubmed/34680940 http://dx.doi.org/10.3390/genes12101546

Ejemplares similares

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

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)

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

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

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

Special Issue “Genetics and Epigenetics in Endocrine Disorders”
por: Trebušak Podkrajšek, Katarina, et al.
Publicado: (2023)

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

Early Discovery of Children With Lysosomal Acid Lipase Deficiency With the Universal Familial Hypercholesterolemia Screening Program
por: Sustar, Ursa, 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)

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)

Clinical and Molecular Cytogenetic Characterisation of Children with Developmental Delay and Dysmorphic Features
por: BERTOK, Sara, et al.
Publicado: (2015)

GNRHR-related central hypogonadism with spontaneous recovery – case report
por: Šmigoc Schweiger, Darja, et al.
Publicado: (2022)

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)

Clinical, Genetic and Immunological Characteristics of Paediatric Autoimmune Polyglandular Syndrome Type 1 Patients in Slovenia
por: BRATANIC, Nina, et al.
Publicado: (2015)

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)

Short stature and SHOX (Short stature homeobox) variants—efficacy of screening using various strategies
por: Capkova, Pavlina, et al.
Publicado: (2020)

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)

Discovering the Unexpected with the Utilization of NGS in Diagnostics of Non-syndromic Hearing Loss Disorders: The Family Case of ILDR1-Dependent Hearing Loss Disorder
por: Kovač, Jernej, et al.
Publicado: (2017)

Multifocal gastric adenocarcinoma in a patient with LRBA deficiency
por: Bratanič, Nina, et al.
Publicado: (2017)

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)

Turner syndrome presented with tall stature due to overdosage of the SHOX gene
por: Seo, Go Hun, et al.
Publicado: (2015)

Investigation of SHOX Gene Mutations in Turkish Patients with Idiopathic Short Stature
por: Delil, Kenan, et al.
Publicado: (2016)

The Importance of Early Genetic Diagnostics of Hearing Loss in Children
por: Božanić Urbančič, Nina, et al.
Publicado: (2020)

Novel GRHL2 Gene Variant Associated with Hearing Loss: A Case Report and Review of the Literature
por: Trebusak Podkrajsek, Katarina, et al.
Publicado: (2021)

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

Dataset on amelogenesis-related genes variants (ENAM and ENAM interacting genes) and on human leukocyte antigen alleles (DQ2 and DQ8) distribution in children with and without molar-incisor hypomineralisation (MIH)
por: Hočevar, Luka, et al.
Publicado: (2020)

Childhood Osteoporosis and Presentation of Two Cases with Osteogenesis Imperfecta Type V
por: BRATANIC, Nina, et al.
Publicado: (2015)

SHOX Duplication and Tall Stature in a Patient with Xq Deletion and Vascular Disease
por: Ramirez, J. M., et al.
Publicado: (2019)

SAT-LB17 Triplication of SHOX Downstream Region in Mild Short Stature
por: Bunyan, David J, et al.
Publicado: (2020)

Detection of SHOX Gene Variations in Patients with Skeletal Abnormalities with or without Short Stature
por: Gürsoy, Semra, et al.
Publicado: (2020)

Next-Generation Sequencing in Newborn Screening: A Review of Current State
por: Remec, Ziga I., 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)

Screening of SHOX gene sequence variants in Saudi Arabian children with idiopathic short stature
por: Alharthi, Abdulla A., et al.
Publicado: (2017)

The Short-Stature Homeobox-Containing Gene (shox/SHOX) Is Required for the Regulation of Cell Proliferation and Bone Differentiation in Zebrafish Embryo and Human Mesenchymal Stem Cells
por: Yokokura, Tomoaki, et al.
Publicado: (2017)

A Novel Splice-Site Deletion in the POU1F1 Gene Causes Combined Pituitary Hormone Deficiency in Multiple Sudanese Pedigrees
por: Hassan, Samar S., et al.
Publicado: (2022)

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

IL‐6‐specific autoantibodies among APECED and thymoma patients
por: Kärner, Jaanika, et al.
Publicado: (2016)

The Role of Epigenetic Modifications in Late Complications in Type 1 Diabetes
por: Čugalj Kern, Barbara, et al.
Publicado: (2022)

SHOX gene and conserved noncoding element deletions/duplications in Colombian patients with idiopathic short stature
por: Sandoval, Gloria Tatiana Vinasco, et al.
Publicado: (2014)

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

Cannot write session to /tmp/vufind_sessions/sess_5bli2po9r2orgrpcii6o9mujf0