Associated Papers
Paediatric diabetes subtypes in a consanguineous population: a single-centre cohort study from Kurdistan, Iraq.
Amaratunga SA et al.
Diabetologia, 2024
Isolated Pancreatic Agenesis Secondary to PTF1A Gene Mutation: A Case Series and Literature Review.
Alsagheir AI et al.
Cureus, 2023
Integrated multi-omics for rapid rare disease diagnosis on a national scale.
Lunke S et al.
Nature Medicine, 2023
37291213 (PubMed )
Supplement: 41591_2023_2401_MOESM1_ESM.pdf
The clinical utility of rapid exome sequencing in a consanguineous population.
Monies D et al.
Genome Medicine, 2023
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
37799141 (PubMed )
Supplement: Table1.xlsx › Supplementary_table_1._
Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics.
Patel KA et al.
Diabetologia, 2022
34686905 (PubMed )
Supplement: 125_2021_5597_MOESM1_ESM.pdf
Neonatal diabetes caused by disrupted pancreatic and β-cell development.
De Franco E
Diabetic Medicine : a Journal of the British Diabetic Association, 2021
A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development.
De Franco E et al.
American Journal of Human Genetics, 2019
31006513 (PubMed )
Supplement: mmc1.pdf
Transcription factor Ptf1a in development, diseases and reprogramming.
Jin K et al.
Cellular and Molecular Life Sciences : Cmls, 2019
Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene.
Gabbay M et al.
Journal of Clinical Research in Pediatric Endocrinology, 2017
Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation.
Houghton JA et al.
Diabetes, 2016
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