- Widening the phenotypic spectrum caused by pathogenic PDX1 ...🔍
- Browsing Clinical and Biomedical Sciences by Author "Al Nimri🔍
- PDX1 dynamically regulates pancreatic ductal adenocarcinoma ...🔍
- Expanding the Clinical Spectrum Associated With GLIS3 Mutations🔍
- First Japanese Family With PDX1|MODY 🔍
- Prevalence and Clinical Characteristics of PDX1 Variant Induced🔍
- Expansion of the phenotypic spectrum associated with pathogenic ...🔍
- Monogenic diabetes🔍
Widening the phenotypic spectrum caused by pathogenic PDX1 ...
Widening the phenotypic spectrum caused by pathogenic PDX1 ...
Introduction Biallelic PDX1 variants are a rare cause of isolated pancreatic agenesis and neonatal diabetes (NDM) without exocrine ...
Widening the phenotypic spectrum caused by pathogenic PDX1 ...
ABSTRACT. Introduction Biallelic PDX1 variants are a rare cause of isolated pancreatic agenesis and neonatal diabetes (NDM).
Widening the phenotypic spectrum caused by pathogenic PDX1 ...
PDF | Introduction Biallelic PDX1 variants are a rare cause of isolated pancreatic agenesis and neonatal diabetes (NDM) without exocrine ...
Widening the phenotypic spectrum caused by pathogenic PDX1 ...
Widening the phenotypic spectrum caused by pathogenic PDX1 variants in individuals with neonatal diabetes. Jeffery, N; Al Nimri, O; Houghton, JAL; et al ...
Browsing Clinical and Biomedical Sciences by Author "Al Nimri, O"
2024, Widening the phenotypic spectrum caused by pathogenic PDX1 variants in individuals with neonatal diabetes , Jeffery, N; Al Nimri, O; Houghton, JAL; et al ...
PDX1 dynamically regulates pancreatic ductal adenocarcinoma ...
Pdx1 loss accelerates inflammation and oncogene-induced ductal metaplasia. (A) Acinar cells lacking Pdx1 undergo more rapid and extensive dedifferentiation.
Expanding the Clinical Spectrum Associated With GLIS3 Mutations
We report new findings within the GLIS3 phenotype, further extending the spectrum ... Pathogenic/pathogenic. 2, 1–2, Exons 1–2 del/exons 1–2 del, c.-?_388+?del ...
First Japanese Family With PDX1-MODY (MODY4): A Novel PDX1 ...
The similarities and differences found among the cases highlight the wide phenotypic spectrum of PDX1-MODY. PDX1, MODY, maturity-onset diabetes of the young ...
Prevalence and Clinical Characteristics of PDX1 Variant Induced
The PDX1 mutations were screened by DNA sequencing, and their pathogenicity was evaluated by functional experiments and American College of Medical Genetics and ...
Expansion of the phenotypic spectrum associated with pathogenic ...
... phenotypes. All DHX16 disease-causing variants previously reported in affected individuals are missense in nature, nearly all of which were found to be de novo.
Monogenic diabetes: a gateway to precision medicine in diabetes - JCI
... caused by pathogenic variants in CAV1 and PTRF. CGL patients show ... GATA6 mutations cause a broad phenotypic spectrum of diabetes ...
Find an Article, Find a Category, Find a ... - Reference Citation Analysis
Widening the phenotypic spectrum caused by pathogenic PDX1 variants in individuals with neonatal diabetes. BMJ Open Diabetes Res Care 2024;12:e004439. [PMID ...
382. Difference in Pathogens Between Hip and Knee Prosthetic ...
... pathogens that cause hip and ... Widening the phenotypic spectrum caused by pathogenic PDX1 variants in individuals with neonatal diabetes.
Generation of human induced pluripotent stem cell lines derived ...
Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants.
Applications of genomic research in pediatric endocrine diseases
... phenotypic spectrum. However ... Expanding the spectrum of founder mutations causing isolated gonadotropin-releasing hormone deficiency.
The Identification of a Novel Pathogenic Variant in the GATA6 Gene ...
GATA6 Mutations Cause a Broad Phenotypic Spectrum of Diabetes From ... genotypic and phenotypic spectrum. Am. J. Med. Genet. A 2019, 179, 1836–1845 ...
Loss-of-function and missense variants in NSD2 cause decreased ...
... spectrum associated with NSD2 pathogenic variants ... Expanding the phenotypic spectrum and clinical severity associated with WLS gene.
Genetic cause of epilepsy in a Greek cohort of children and young ...
Pathogenic GRIN2B variants cause autosomal ... Rahikkala, et al. Novel variants and phenotypes widen the phenotypic spectrum of GABRG2-related disorders.
PRIME PubMed | K29.8 - Duodenitis OR ... - Unbound Medicine
Future multicenter studies are needed to confirm these findings. Publisher Full Text (DOI). Widening the phenotypic spectrum caused by pathogenic PDX1 variants ...
Clinical Genetics: Volume 93, Issue 2 - Wiley Online Library
Pages: 235-241; First Published: 03 July 2017. Phenotypic spectrum of mutations in IBA57, a candidate gene for cavitating leukoencephalopathy Issue ...