17q12, uitgelegd voor kinderendeletion syndrome · static snapshot
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Gen + lichaamsdeel Hoe het eruit kan zien 6 ondersteunende bronnen vertrouwen 97% nieuwheid 54%

Het gen PIGW wordt in 6 verhalen genoemd samen met groeien, buik en eten

We lazen 6 verhalen die het over zowel het gen PIGW als over groeien, buik en eten hebben. Dat betekent niet zeker dat het één het ander veroorzaakt, maar het komt wel vaak samen voor.

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:PIGW:growth_nutrition. 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)

…tion syndrome. Genet Med. 2023;25:100344. 24. Heung T, Conroy B, Malecki S, Ha J, Boot E, Corral M, et al. Adult height, 22q11.2 deletion extent, and short stature in 22q11.2 deletion syndrome. Genes. 2022;13:2038. 25. Hanssen R, Auwerx C, Joeloo M, Sadler MC, Estonian Biobank Research T, Henning E, et al. Chrom…
…er . Fold change values were used to construct a chart. 2.6 Fluorescence In Situ Hybridization ( FISH ) FISH was performed for Patient 3.1 due to her short stature using the commercial probes "Short Stature (Xp22)/SEX" for the SHOX gene (Xp22) and centromere‐specific DXZ1 (Kreatech‐Leica, Germany) on metaphase c…
…1B (n=1, 25.0%). Genetic diagnoses led to targeted therapies and identification of MODY cases among family members. The latter often have concomitant obesity-driven insulin resistance contributing to hyperglycemia. Conclusion Genetic testing for monogenic diabetes in a real-world setting identified disease…
…Accepted 2025 Sep 24; Issue date 2025. Introduction Amidst the escalating global burden of metabolic disorders, the pandemic prevalence of diabetes, obesity, and hypertension has substantially amplified the public health threat posed by kidney diseases(1, 2). Epidemiological data from the Global Burden of…

Ondersteunende documenten (38)

VerhaalBronGepubliceerdGezienRelevantie
A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-on... pubmed 2025-11-01 gisteren 1.00
17q12 Recurrent Deletion Syndrome in Childhood pmc 2025-01-01 gisteren 1.00
Clinical and Genetic Significance of Chromosomal Microarray Screeni... pmc 2026-01-01 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
Translational strategies to uncover the etiology of congenital anom... pmc 2024-01-01 gisteren 1.00
Decreased T helper 1 cell function underlies recurrent sinopulmonar... pmc 2025-01-01 gisteren 1.00
Type 1 Diabetes Polygenic Scores Improve Diagnostic Accuracy in Ped... pmc 2025-01-01 gisteren 1.00
Case-based learning: a case of maturity-onset diabetes of the young... 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
Severe neonatal cholestasis in HNF1β deficiency: a case report and ... pmc 2025-01-01 gisteren 1.00
Diabetes associated with HNF1B: beyond Occam’s razor—A case report 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
Hepatocyte nuclear factor 1 in renal lipid metabolism: molecular me... pmc 2025-01-01 gisteren 1.00
Revealing Monogenic Diabetes: Clinical and Genetic Features of Pedi... pmc 2025-01-01 gisteren 1.00
Maternal DNA methylation signatures of gestational diabetes across ... pmc 2025-01-01 gisteren 0.76
Functional genomics analysis identifies loss of HNF1B function as a... pubmed 2023-03-06 gisteren 1.00
PIGW-related glycosylphosphatidylinositol deficiency: A case report... pubmed 2024-05-01 gisteren 1.00
In-Depth Phenotyping of PIGW -Related Disease and Its Role in 17q12... pubmed 2024-12-18 gisteren 1.00
The Genetic Landscape and Precision Medicine in Neonatal Diabetes M... pmc 2026-01-01 gisteren 1.00
Prenatally diagnosed 17q12 microdeletion syndrome with a novel asso... pubmed 2012-01-01 gisteren 1.00
Identification of maturity-onset diabetes of the young through targ... pmc 2026-01-01 gisteren 1.00
Congenital diaphragmatic hernia may be associated with 17q12 microd... pubmed 2015-01-01 gisteren 1.00
The Importance of Molecular Testing in the Diagnosis of Genetic Syn... pmc 2026-01-01 gisteren 1.00
Residual risk of clinically significant copy number variations in f... pmc 2026-01-01 gisteren 1.00
Prenatal Ultrasound–Detected Structural Anomalies Associated with A... pmc 2026-01-01 gisteren 1.00
Phenome-wide analysis of copy number variants in 470,727 UK Biobank genomes pmc 2026-01-01 gisteren 1.00
Transient neonatal diabetes mellitus as an early diagnostic clue to... pmc 2026-01-01 gisteren 1.00
A familial case report of 17q12 recurrent deletion syndrome: clinic... pmc 2026-01-01 gisteren 1.00
A phenome-wide association study of CNVs genotyped from genome sequ... pmc 2026-01-01 gisteren 1.00
Identification and Functional Analysis of a Novel NSD2 Missense Var... pmc 2026-01-01 gisteren 1.00
Insights from maturity-onset diabetes of the young into impaired in... pmc 2026-01-01 gisteren 1.00
Thyroxine binding globulin deficiency due to a novel HNF1B gene var... pmc 2026-01-01 gisteren 1.00
Precision Medicine in Pediatric Nephrology: From Shared Clinical Ph... pmc 2026-01-01 gisteren 1.00
Accurate diagnosis and heterogeneity analysis of a 17q12 deletion s... pubmed 2021-07-01 gisteren 1.00
[Clinical and genetic analysis of a fetus with 17q12 microdeletion ... pubmed 2023-06-10 gisteren 1.00
Prenatal diagnosis and perinatal findings of 17q12 microdeletion en... pubmed 2024-01-01 gisteren 1.00