Cargando…

A Novel Splice-Site Deletion in the POU1F1 Gene Causes Combined Pituitary Hormone Deficiency in Multiple Sudanese Pedigrees

Pathogenic variants within the gene encoding the pituitary-specific transcription factor, POU class 1 homeobox 1 (POU1F1), are associated with combined pituitary hormone deficiency (CPHD), including growth hormone, prolactin, and thyrotropin stimulating hormone deficiencies. The aim of the study was...

Descripción completa

Detalles Bibliográficos
Autores principales:	Hassan, Samar S., Abdullah, Mohamed, Trebusak Podkrajsek, Katarina, Musa, Salwa, Ibrahim, Areej, Babiker, Omer, Kovac, Jernej, Battelino, Tadej, Avbelj Stefanija, Magdalena
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9032872/ https://www.ncbi.nlm.nih.gov/pubmed/35456463 http://dx.doi.org/10.3390/genes13040657

Ejemplares similares

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

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

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

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)

Childhood Osteoporosis and Presentation of Two Cases with Osteogenesis Imperfecta Type V
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)

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)

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)

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

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

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)

Case Report: Multiple prolactinomas in a young man with Kallmann syndrome and familial hypocalciuric hypercalcemia
por: Jensterle, Mojca, et al.
Publicado: (2023)

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)

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

Familial Non-autoimmune Hyperthyroidism in Family Members Across Four Generations Due To a Novel Disease-causing Variant in The Thyrotropin Receptor Gene
por: Malej, A, et al.
Publicado: (2021)

Pathogenesis of Type 1 Diabetes: Established Facts and New Insights
por: Zajec, Ana, et al.
Publicado: (2022)

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)

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

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

Extracellular Vesicles Derived Human-miRNAs Modulate the Immune System in Type 1 Diabetes
por: Tesovnik, Tine, 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)

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

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)

Genetic and Clinical Characteristics of Patients With Homozygous and Compound Heterozygous Familial Hypercholesterolemia From Three Different Populations: Case Series
por: Marusic, Tatiana, et al.
Publicado: (2020)

An Intron c.103-3T>C Variant of the AMELX Gene Causes Combined Hypomineralized and Hypoplastic Type of Amelogenesis Imperfecta: Case Series and Review of the Literature
por: Leban, Tina, et al.
Publicado: (2022)

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

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)

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)

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

Characterization of Hashimoto´s thyroiditis in Sudanese children: a cross-sectional study at Gaafar Ibnauf Hospital, Khartoum
por: Fadlalbari, Ghassan Faisal, et al.
Publicado: (2023)

Fanconi Bickel syndrome: clinical phenotypes and genetics in a cohort of Sudanese children
por: Musa, Salwa A., et al.
Publicado: (2020)

Acute Hyperglycemia and Spatial Working Memory in Adolescents With Type 1 Diabetes
por: Šuput Omladič, Jasna, et al.
Publicado: (2020)

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

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)

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

Final adult height in children with central precocious puberty – a retrospective study
por: Knific, Taja, et al.
Publicado: (2022)

Challenges in diagnosis and management of neonatal hyperparathyroidism in a resource-limited country: a case series from a Sudanese family
por: Hassan, Samar Sabir, et al.
Publicado: (2021)

Intronic variant in POU1F1 associated with canine pituitary dwarfism
por: Kyöstilä, Kaisa, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_56ntf3sgsm1ipavcvtcnfr37or