Gen + lichaamsdeel Hoe het eruit kan zien 64 ondersteunende bronnen vertrouwen 97% nieuwheid 70%

Het gen HNF1B wordt in 45 verhalen genoemd samen met het hart

We lazen 45 verhalen die het over zowel het gen HNF1B als over het hart hebben. Dat betekent niet zeker dat het één het ander veroorzaakt, maar het komt wel vaak samen voor.

Meer gen + lichaamsdeel

Hoe dit tot stand kwam

Dit gaat over wat er samen in de artikelen staat. Het is geen bewijs dat het ene het andere veroorzaakt.

Gegenereerd 2026-11-13, laatst gewijzigd gisteren. Dedup-sleutel assoc:HNF1B:cardiac. De engine controleert dit inzicht bij elke analyse opnieuw; als meer bronnen het eens zijn, stijgen zijn onderbouwing en vertrouwen en verschijnt het opnieuw als “nieuw”.

Bewijs (4 citaten)

Prenatal Ultrasound–Detected Structural Anomalies Associated with Autism Spectrum Disorder: A Narrative Review peer-reviewed · gepubliceerd 2026-01-01 · live pagina

…ng early developmental markers. Data analysis The findings from each study were extracted and thematically organized by type of anomaly (e.g., brain, cardiac, renal) and other relevant prenatal risk factors. The synthesis adopted a descriptive approach, summarizing reported associations and identifying rec…

ESC models of autism with copy-number variations reveal cell-type-specific translational vulnerability peer-reviewed · gepubliceerd 2025-01-01 · live pagina

…tributed equally Lead contact Summary Human genetics has identified numerous copy-number variations (CNVs) associated with autism spectrum disorders (ASDs). However, the lack of standardized biological resources impedes understanding of the cell-type-specific common features of ASD. Here, we establish…

Autism Spectrum Disorder: Genetic Mechanisms and Inheritance Patterns peer-reviewed · gepubliceerd 2025-01-01 · live pagina

These authors contributed equally to this work. Autism spectrum disorder (ASD) is a neurodevelopmental disorder that first develops in early childhood and is characterized by restricted interests, activities, and behaviors, as…

Comprehensive analysis of copy number variations in congenital heart defects Tunisian patients: chromosomal microarray analysis insights peer-reviewed · gepubliceerd 2026-01-01 · live pagina

…n at 17q21.32; and a de novo 48 Mb duplication at 8q22. Several CNVs overlapped known deletion/duplication syndromes, some with previously infrequent cardiac involvement. Genotype-phenotype correlations enabled prioritization of CHD relevant genes including DOCK8 , HTR2B , KANSL1 , ZFPM2 , and TRPS1 , whos…

Ondersteunende documenten (52)

Verhaal	Bron	Gepubliceerd	Gezien	Relevantie
17q12 Recurrent Deletion Syndrome in Childhood	pmc	2025-01-01	gisteren	1.00
Identification of novel driver risk genes in CNV loci associated wi...	pmc	2024-01-01	gisteren	0.45
Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and...	pmc	2024-01-01	gisteren	1.00
Prenatal diagnosis of 17q12 copy number variants in fetuses via chr...	pmc	2024-01-01	gisteren	1.00
A Korean Family Presenting with Renal Cysts and Maturity-Onset Diab...	pmc	2024-01-01	gisteren	1.00
The Genetic Architecture of Congenital Heart Disease in Neonatal In...	pmc	2024-01-01	gisteren	0.45
HNF1B Transcription Factor: Key Regulator in Renal Physiology and P...	pmc	2024-01-01	gisteren	1.00
A Case of Diabetes Mellitus Type MODY5 as a Feature of 17q12 Deleti...	pmc	2024-01-01	gisteren	1.00
School level of children carrying a HNF1B variant or a deletion.	pubmed	2020-01-01	gisteren	1.00
The Clinical Characteristics and Gene Mutations of Maturity-Onset D...	pubmed	2022-01-01	gisteren	1.00
Hepatocyte nuclear factor 1B deletion, but not intragenic mutation,...	pubmed	2024-01-01	gisteren	1.00
Large Kidney Cysts in HNF1B Nephropathy Mimicking Autosomal Dominan...	pubmed	2024-01-01	gisteren	1.00
HNF1B-MODY (MODY-5): a rare form of diabetes with multisystemic fea...	pubmed	2026-01-01	gisteren	1.00
From Exome to Optical Mapping: Resolving a Complex 17q12 Rearrangem...	pubmed	2026-10-09	gisteren	1.00
Exome sequencing of 20,979 individuals with epilepsy reveals shared...	pmc	2024-01-01	gisteren	1.00
In-Depth Phenotyping of PIGW -Related Disease and Its Role in 17q12...	pmc	2024-01-01	gisteren	1.00
Delineation of the Genetic Architecture and Clinical Polymorphism o...	pmc	2024-01-01	gisteren	1.00
The genetic etiologies of bilateral renal agenesis	pmc	2024-01-01	gisteren	1.00
Parent-of-origin testing of prenatal copy number variations: a retr...	pmc	2025-01-01	gisteren	1.00
Obesity and metabolic syndrome in adults with a 22q11.2 microdeletion	pmc	2024-01-01	gisteren	1.00
Novel compound heterozygous mutation in DNAH9 causes complex congen...	pmc	2025-01-01	gisteren	1.00
Autism Spectrum Disorder: Genetic Mechanisms and Inheritance Patterns	pmc	2025-01-01	gisteren	1.00
Prenatally and postnatally sequential genetic etiology detection in...	pmc	2025-01-01	gisteren	1.00
ESC models of autism with copy-number variations reveal cell-type-s...	pmc	2025-01-01	gisteren	1.00
Exome analysis links kidney malformations to developmental disorder...	pmc	2025-01-01	gisteren	1.00
A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-on...	pmc	2025-01-01	gisteren	1.00
MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Pren...	pmc	2025-01-01	gisteren	1.00
Prevalence and phenotypic findings of pathogenic or likely pathogen...	pmc	2025-01-01	gisteren	1.00
From mutation to symptoms: a multi-center study on HNF1B -related n...	pmc	2025-01-01	gisteren	1.00
HNF1B variant without hyperglycaemia as a cause of isolated profoun...	pubmed	2023-02-09	gisteren	1.00
The Genetic Landscape and Precision Medicine in Neonatal Diabetes M...	pmc	2026-01-01	gisteren	1.00
A complex microdeletion 17q12 phenotype in a patient with recurrent...	pubmed	2012-05-14	gisteren	1.00
Case Report: Nephrocalcinosis from pancreatic hypoplasia in HNF1B d...	pmc	2026-01-01	gisteren	1.00
Pediatric Hepatocyte Nuclear Factor 1B ( HNF1B ) Disease: Diabetes ...	pmc	2025-01-01	gisteren	1.00
Comprehensive analysis of copy number variations in congenital hear...	pmc	2026-01-01	gisteren	1.00
Residual risk of clinically significant copy number variations in f...	pmc	2026-01-01	gisteren	1.00
A novel inversion at 17q12 disrupting HNF1B gene in a patient with ...	pmc	2026-01-01	gisteren	1.00
Hepatic dysfunction, hyperuricemia, and multiple renal cysts in ado...	pmc	2026-01-01	gisteren	1.00
Prenatal Ultrasound–Detected Structural Anomalies Associated with A...	pmc	2026-01-01	gisteren	1.00
Transient neonatal diabetes mellitus as an early diagnostic clue to...	pmc	2026-01-01	gisteren	1.00
Functional validation of a non-canonical HNF1B splice-site variant in MODY5	pmc	2026-01-01	gisteren	1.00
Molecular impact of a novel HNF1B missense variant in childhood-ons...	pmc	2026-01-01	gisteren	1.00
A familial case report of 17q12 recurrent deletion syndrome: clinic...	pmc	2026-01-01	gisteren	1.00
Prenatal phenotypes and pregnancy outcomes of fetuses with recurren...	pmc	2026-01-01	gisteren	1.00
HNF1B-MODY in the Norwegian MODY Registry and the Norwegian Childho...	pmc	2026-01-01	gisteren	1.00
Chromosomal Microarray Analysis in Critically Ill Neonates and Chil...	pmc	2026-01-01	gisteren	1.00
HNF1B-MODY (MODY-5): a rare form of diabetes with multisystemic fea...	pmc	2026-01-01	gisteren	1.00
HNF1B -related disease: developmental origins, molecular mechanisms...	pmc	2026-01-01	gisteren	1.00
Clinical utility of chromosomal microarray analysis in prenatal dia...	pmc	2026-01-01	gisteren	1.00
Clinical Spectrum and Early Renal Functional Variability in a Natio...	pmc	2026-01-01	gisteren	1.00
Genetic Insights into Pediatric Polycystic Kidney Disease and Overl...	pmc	2026-01-01	gisteren	1.00
PMC12903773	local_files	-	gisteren	1.00