1 |
Congenital hypothyroidism, cardiac defects, and pancreatic agenesis in an infant with GATA6 mutation.
61
|
Raghuram N...Chitayat D
|
32207556 |
2020 |
2 |
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 |
3 |
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 |
4 |
Performance of endoscopic ultrasound for diagnosis of agenesis of the dorsal pancreas: a case report.
61
|
Zhong JW...Zhou YH
|
31680602 |
2020 |
5 |
Agenesis of the dorsal pancreas: a very rare entity causing diabetes mellitus.
61
|
Dinkhauser P...Hofer H
|
31797244 |
2020 |
6 |
Genes predisposing to neonatal diabetes mellitus and pathophysiology: Current findings.
61
|
Yahaya TO...Anyebe DA
|
32333556 |
2020 |
7 |
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 |
8 |
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 |
9 |
Searching for mutations in the HNF1B gene in a Brazilian cohort with renal cysts and hyperglycemia.
61
|
Dotto RP...Reis AF
|
31066763 |
2019 |
10 |
Rare Cause of Pain Abdomen: Dorsal Pancreatic Agenesis.
61
|
Bhushan D...Kumar R
|
31304717 |
2019 |
11 |
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 |
12 |
Three cases of pancreatic pseudocysts associated with dorsal pancreatic agenesis.
61
|
Suh PS...Lee D
|
30377453 |
2019 |
13 |
Pancreatic hemi-agenesis in MEN1: A clinical report.
61
|
Vinck WJ...Michils G
|
29174091 |
2018 |
14 |
Genome-wide analysis of PDX1 target genes in human pancreatic progenitors.
61
|
Wang X...Lickert H
|
29396371 |
2018 |
15 |
GATA6 Controls Insulin Biosynthesis and Secretion in Adult β-Cells.
61
|
Villamayor L...Rojas A
|
29263149 |
2018 |
16 |
Agenesis of dorsal pancreas in a young adult: a rare cause of diabetes mellitus.
61
|
Sonkar SK...Singh NK
|
29444795 |
2018 |
17 |
PDX1 -MODY and dorsal pancreatic agenesis: New phenotype of a rare disease.
61
|
Caetano LA...Teles MG
|
28436541 |
2018 |
18 |
Complete dorsal pancreatic agenesis and unilateral renal agenesis.
61
|
Moreira A...Jesus JM
|
29487639 |
2018 |
19 |
The ATPase activity of Asna1/TRC40 is required for pancreatic progenitor cell survival.
61
|
Norlin S...Edlund H
|
29180572 |
2018 |
20 |
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 |
21 |
Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene.
61
|
Gabbay M...Moises RS
|
28663161 |
2017 |
22 |
Role of nutrients and mTOR signaling in the regulation of pancreatic progenitors development.
61
|
Elghazi L...Bernal-Mizrachi E
|
28580286 |
2017 |
23 |
Gotta Have GATA for Human Pancreas Development.
61
|
Lorberbaum DS...Sussel L
|
28475878 |
2017 |
24 |
Pancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report.
61
|
Hilbrands R...Heimberg H
|
28525974 |
2017 |
25 |
Dependent stomach sign and dependent intestine sign of dorsal pancreatic agenesis.
61
|
Lal H...Mourya C
|
27654989 |
2017 |
26 |
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 |
27 |
Isolated Dorsal Pancreatic Agenesis.
61
|
Shahzad R...Anees A
|
27981930 |
2016 |
28 |
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 |
29 |
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 |
30 |
Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation.
61
|
Houghton JA...Ellard S
|
27284104 |
2016 |
31 |
Agenesis of the dorsal pancreas: systematic review of a clinical challenge.
61
|
A Cienfuegos J...Sangro B
|
27468966 |
2016 |
32 |
Neonatal diabetes and protein losing enteropathy: a case report.
61
|
McMillan T...Sellers EA
|
27098067 |
2016 |
33 |
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 |
34 |
GATA4 and GATA6 regulate pancreatic endoderm identity through inhibition of hedgehog signaling.
61
|
Xuan S...Sussel L
|
26932670 |
2016 |
35 |
Dorsal pancreatic agenesis: description of CT signs.
61
|
Sandip S...Thingujam U
|
26976832 |
2016 |
36 |
Mutations in the noncoding genome.
61
|
Scacheri CA...Scacheri PC
|
26382709 |
2015 |
37 |
Genome, Exome, and Targeted Next-Generation Sequencing in Neonatal Diabetes.
61
|
De Franco E...Ellard S
|
26210631 |
2015 |
38 |
PDX1 binds and represses hepatic genes to ensure robust pancreatic commitment in differentiating human embryonic stem cells.
61
|
Teo AK...Dunn NR
|
25843046 |
2015 |
39 |
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 |
40 |
Maturity-onset diabetes of the young (MODY): an update.
61
|
Anik A...Bober E
|
25581748 |
2015 |
41 |
A novel mutation in GATA6 causes pancreatic agenesis.
61
|
Stanescu DE...De Leon DD
|
24433315 |
2015 |
42 |
A NEW OBSERVATION OF 13q DELETION SYNDROME: SEVERE UNDESCRIBED FEATURES.
61
|
Garcia-Rodriguez E...Pavon-Delgado A
|
26349191 |
2015 |
43 |
Variable Phenotype of Diabetes Mellitus in Siblings with a Homozygous PTF1A Enhancer Mutation.
61
|
Gonc EN...Kandemir N
|
26184423 |
2015 |
44 |
Novel GATA6 mutations in patients with pancreatic agenesis and congenital heart malformations.
61
|
Chao CS...Feldman BJ
|
25706805 |
2015 |
45 |
An unusual association of inflammatory pseudotumor of the liver and dorsal pancreatic agenesis presenting as reversible portal hypertension: a case report.
61
|
Jain A...Bharti P
|
25584257 |
2014 |
46 |
GATA4 mutations are a cause of neonatal and childhood-onset diabetes.
61
|
Shaw-Smith C...Ellard S
|
24696446 |
2014 |
47 |
Screening of diabetes of youth for hepatocyte nuclear factor 1 mutations: clinical phenotype of HNF1β-related maturity-onset diabetes of the young and HNF1α-related maturity-onset diabetes of the young in Japanese.
61
|
Horikawa Y...Takeda J
|
24905847 |
2014 |
48 |
MR in complete dorsal pancreatic agenesis: Case report and review of literature.
61
|
Thakur S...Thakur CS
|
25024525 |
2014 |
49 |
Many faces of monogenic diabetes.
61
|
Schwitzgebel VM
|
24843749 |
2014 |
50 |
Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.
61
|
Yu L...Chung WK
|
24385578 |
2014 |