| 1 |
Obesity and hyperinsulinemia in a family with pancreatic agenesis and MODY caused by the IPF1 mutation Pro63fsX60.
61
6
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Fajans SS...Chen M
|
20621032 |
2010 |
| 2 |
Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation.
6
61
|
Thomas IH...Fajans SS
|
19496967 |
2009 |
| 3 |
Insulin promoter factor-1 gene mutation linked to early-onset type 2 diabetes mellitus directs expression of a dominant negative isoprotein.
6
61
|
Stoffers DA...Habener JF
|
9649577 |
1998 |
| 4 |
Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence.
6
61
|
Stoffers DA...Habener JF
|
8988180 |
1997 |
| 5 |
Permanent neonatal diabetes mellitus and pancreatic exocrine insufficiency resulting from congenital pancreatic agenesis.
61
6
|
Wright NM...Clarke WL
|
8506821 |
1993 |
| 6 |
A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency.
6
|
Nicolino M...Julier C
|
20009086 |
2010 |
| 7 |
Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1.
6
|
Schwitzgebel VM...Philippe J
|
12970316 |
2003 |
| 8 |
Early-onset type-II diabetes mellitus (MODY4) linked to IPF1.
6
|
Stoffers DA...Habener JF
|
9326926 |
1997 |
| 9 |
Clinical Characteristics and Long-term Follow-up of Patients with Diabetes Due To PTF1A Enhancer Mutations.
61
|
Demirbilek H...De Franco E
|
32893856 |
2020 |
| 10 |
Genetically engineered pigs manifesting pancreatic agenesis with severe diabetes.
61
|
Nagaya M...Nagashima H
|
33257422 |
2020 |
| 11 |
A Non-Coding Disease Modifier of Pancreatic Agenesis Identified by Genetic Correction in a Patient-Derived iPSC Line.
61
|
Kishore S...Gadue P
|
32442395 |
2020 |
| 12 |
Congenital hypothyroidism, cardiac defects, and pancreatic agenesis in an infant with GATA6 mutation.
61
|
Raghuram N...Chitayat D
|
32207556 |
2020 |
| 13 |
Agenesis of the dorsal pancreas: a very rare entity causing diabetes mellitus.
61
|
Dinkhauser P...Hofer H
|
31797244 |
2020 |
| 14 |
A NONSENSE GATA6 MUTATION EXPLAINS HISTORY OF CONGENITAL HEART DEFECTS AND 10 YEARS OF POORLY-CONTROLLED DIABETES LACKING DKA IN A NON-OBESE 30 YEAR-OLD INCIDENTALLY FOUND TO HAVE PANCREATIC HYPOPLASIA.
61
|
Miles ML...Jackson G
|
32524025 |
2020 |
| 15 |
Performance of endoscopic ultrasound for diagnosis of agenesis of the dorsal pancreas: a case report.
61
|
Zhong JW...Zhou YH
|
31680602 |
2020 |
| 16 |
Case report: adult onset diabetes with partial pancreatic agenesis and congenital heart disease due to a de novo GATA6 mutation.
61
|
Sanchez-Lechuga B...Byrne M
|
32245430 |
2020 |
| 17 |
Genes predisposing to neonatal diabetes mellitus and pathophysiology: Current findings.
61
|
Yahaya TO...Anyebe DA
|
32333556 |
2020 |
| 18 |
Searching for mutations in the HNF1B gene in a Brazilian cohort with renal cysts and hyperglycemia.
61
|
Dotto RP...Reis AF
|
31066763 |
2019 |
| 19 |
A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development.
61
|
De Franco E...Barroso I
|
31006513 |
2019 |
| 20 |
Rare Cause of Pain Abdomen: Dorsal Pancreatic Agenesis.
61
|
Bhushan D...Kumar R
|
31304717 |
2019 |
| 21 |
GATA6 Cooperates with EOMES/SMAD2/3 to Deploy the Gene Regulatory Network Governing Human Definitive Endoderm and Pancreas Formation.
61
|
Chia CY...Vallier L
|
30629940 |
2019 |
| 22 |
Three cases of pancreatic pseudocysts associated with dorsal pancreatic agenesis.
61
|
Suh PS...Lee D
|
30377453 |
2019 |
| 23 |
Pancreatic hemi-agenesis in MEN1: A clinical report.
61
|
Vinck WJ...Michils G
|
29174091 |
2018 |
| 24 |
Genome-wide analysis of PDX1 target genes in human pancreatic progenitors.
61
|
Wang X...Lickert H
|
29396371 |
2018 |
| 25 |
GATA6 Controls Insulin Biosynthesis and Secretion in Adult β-Cells.
61
|
Villamayor L...Rojas A
|
29263149 |
2018 |
| 26 |
Agenesis of dorsal pancreas in a young adult: a rare cause of diabetes mellitus.
61
|
Sonkar SK...Singh NK
|
29444795 |
2018 |
| 27 |
Complete dorsal pancreatic agenesis and unilateral renal agenesis.
61
|
Moreira A...Jesus JM
|
29487639 |
2018 |
| 28 |
PDX1 -MODY and dorsal pancreatic agenesis: New phenotype of a rare disease.
61
|
Caetano LA...Teles MG
|
28436541 |
2018 |
| 29 |
The ATPase activity of Asna1/TRC40 is required for pancreatic progenitor cell survival.
61
|
Norlin S...Edlund H
|
29180572 |
2018 |
| 30 |
Laser Capture and Deep Sequencing Reveals the Transcriptomic Programmes Regulating the Onset of Pancreas and Liver Differentiation in Human Embryos.
61
|
Jennings RE...Hanley NA
|
29056335 |
2017 |
| 31 |
Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene.
61
|
Gabbay M...Moises RS
|
28663161 |
2017 |
| 32 |
Role of nutrients and mTOR signaling in the regulation of pancreatic progenitors development.
61
|
Elghazi L...Bernal-Mizrachi E
|
28580286 |
2017 |
| 33 |
Gotta Have GATA for Human Pancreas Development.
61
|
Lorberbaum DS...Sussel L
|
28475878 |
2017 |
| 34 |
Pancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report.
61
|
Hilbrands R...Heimberg H
|
28525974 |
2017 |
| 35 |
Dependent stomach sign and dependent intestine sign of dorsal pancreatic agenesis.
61
|
Lal H...Mourya C
|
27654989 |
2017 |
| 36 |
Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus.
61
|
Yau D...Mitchell JJ
|
28049534 |
2017 |
| 37 |
Isolated Dorsal Pancreatic Agenesis.
61
|
Shahzad R...Anees A
|
27981930 |
2016 |
| 38 |
Generation of a human induced pluripotent stem cell (iPSC) line from a patient carrying a P33T mutation in the PDX1 gene.
61
|
Wang X...Lickert H
|
27879211 |
2016 |
| 39 |
Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation.
61
|
Houghton JA...Ellard S
|
27284104 |
2016 |
| 40 |
Generation of a human induced pluripotent stem cell (iPSC) line from a patient with family history of diabetes carrying a C18R mutation in the PDX1 gene.
61
|
Wang X...Lickert H
|
27879214 |
2016 |
| 41 |
Agenesis of the dorsal pancreas: systematic review of a clinical challenge.
61
|
A Cienfuegos J...Sangro B
|
27468966 |
2016 |
| 42 |
Neonatal diabetes and protein losing enteropathy: a case report.
61
|
McMillan T...Sellers EA
|
27098067 |
2016 |
| 43 |
Insights into islet development and biology through characterization of a human iPSC-derived endocrine pancreas model.
61
|
van de Bunt M...Honore C
|
27246810 |
2016 |
| 44 |
Dorsal pancreatic agenesis: description of CT signs.
61
|
Sandip S...Thingujam U
|
26976832 |
2016 |
| 45 |
GATA4 and GATA6 regulate pancreatic endoderm identity through inhibition of hedgehog signaling.
61
|
Xuan S...Sussel L
|
26932670 |
2016 |
| 46 |
Mutations in the noncoding genome.
61
|
Scacheri CA...Scacheri PC
|
26382709 |
2015 |
| 47 |
Genome, Exome, and Targeted Next-Generation Sequencing in Neonatal Diabetes.
61
|
De Franco E...Ellard S
|
26210631 |
2015 |
| 48 |
PDX1 binds and represses hepatic genes to ensure robust pancreatic commitment in differentiating human embryonic stem cells.
61
|
Teo AK...Dunn NR
|
25843046 |
2015 |
| 49 |
A triad of complete dorsal pancreatic agenesis, pancake kidney and bicornuate uterus. An association or an incidental finding: first case in literature.
61
|
Lal A...Khandelwal N
|
25791554 |
2015 |
| 50 |
Maturity-onset diabetes of the young (MODY): an update.
61
|
Anik A...Bober E
|
25581748 |
2015 |
Developmental anomalies during embryogenesis 
