1 |
Mutations in hepatocyte nuclear factor-1beta and their related phenotypes.
56
6
61
|
Edghill EL...Hattersley AT
|
15930087 |
2006 |
2 |
Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease.
61
6
56
|
Bingham C...Hattersley AT
|
11085914 |
2001 |
3 |
Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations.
6
56
|
Bellanne-Chantelot C...Timsit J
|
15068978 |
2004 |
4 |
Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation.
6
56
|
Bingham C...Hattersley AT
|
12675839 |
2003 |
5 |
A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta.
6
56
|
Lindner TH...Sovik O
|
10484768 |
1999 |
6 |
Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY.
56
6
|
Horikawa Y...Bell GI
|
9398836 |
1997 |
7 |
Familial hypoplastic glomerulocystic kidney disease: a definite entity with dominant inheritance.
56
6
|
Kaplan BS...Barratt TM
|
2624270 |
1989 |
8 |
Familial hypoplastic glomerulocystic kidney. A new entity?
56
6
|
Rizzoni G...Mathieu H
|
7151342 |
1982 |
9 |
Hepatocyte nuclear factor-1beta: a new kindred with renal cysts and diabetes and gene expression in normal human development.
6
61
|
Kolatsi-Joannou M...Woolf AS
|
11562418 |
2001 |
10 |
Maturity-Onset Diabetes of the Young Overview
6
|
Naylor R...del Gaudio D
|
29792621 |
2018 |
11 |
17q12 Recurrent Deletion Syndrome
6
|
Mitchel MW...Martin CL
|
27929632 |
2016 |
12 |
HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.
56
|
Thomas R...Gharavi AG
|
21380624 |
2011 |
13 |
HNF1B alterations associated with congenital anomalies of the kidney and urinary tract.
56
|
Nakayama M...Iijima K
|
20155289 |
2010 |
14 |
Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.
56
|
Nagamani SC...Cheung SW
|
19844256 |
2010 |
15 |
HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.
6
|
Adalat S...Bockenhauer D
|
19389850 |
2009 |
16 |
Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy.
56
|
Mefford HC...Bellanne-Chantelot C
|
17924346 |
2007 |
17 |
Exonic duplication of the hepatocyte nuclear factor-1beta gene (transcription factor 2, hepatic) as a cause of maturity onset diabetes of the young type 5.
6
|
Carette C...Bellanne-Chantelot C
|
17440011 |
2007 |
18 |
Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5.
56
|
Bellanne-Chantelot C...Timsit J
|
16249435 |
2005 |
19 |
Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas.
6
|
Rebouissou S...Zucman-Rossi J
|
15649945 |
2005 |
20 |
Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: Phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1beta gene due to germline mosaicism.
6
|
Yorifuji T...Nakahata T
|
15181075 |
2004 |
21 |
Contributions to the MODY5 phenotype.
56
|
Sovik O...Myhr KM
|
12638944 |
2002 |
22 |
Nonsense and missense mutations in the human hepatocyte nuclear factor-1 beta gene (TCF2) and their relation to type 2 diabetes in Japanese.
6
|
Furuta H...Nanjo K
|
12161522 |
2002 |
23 |
Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young.
56
|
Fajans SS...Polonsky KS
|
11575290 |
2001 |
24 |
Splice site mutation in the hepatocyte nuclear factor-1 beta gene, IVS2nt + 1G > A, associated with maturity-onset diabetes of the young, renal dysplasia and bicornuate uterus.
6
|
Iwasaki N...Iwamoto Y
|
11317673 |
2001 |
25 |
The mutated human gene encoding hepatocyte nuclear factor 1beta inhibits kidney formation in developing Xenopus embryos.
6
|
Wild W...Ryffel GU
|
10758154 |
2000 |
26 |
Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta.
6
|
Bingham C...Hattersley AT
|
10720943 |
2000 |
27 |
A low renal threshold for glucose in diabetic patients with a mutation in the hepatocyte nuclear factor-1alpha (HNF-1alpha) gene.
56
|
Menzel R...Menzel S
|
9796880 |
1998 |
28 |
Frameshift mutation, A263fsinsGG, in the hepatocyte nuclear factor-1beta gene associated with diabetes and renal dysfunction.
56
|
Nishigori H...Takeda J
|
9703339 |
1998 |
29 |
Precocious familial gout with reduced fractional urate clearance and normal purine enzymes.
56
|
Calabrese G...Davies PM
|
2388995 |
1990 |
30 |
HNF1B-associated clinical phenotypes: the kidney and beyond.
52
|
Bockenhauer D...Jaureguiberry G
|
26160100 |
2016 |
31 |
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.
52
|
Eckardt KU...Kidney Disease: Improving Global Outcomes
|
25738250 |
2015 |
32 |
Hypomagnesemia as First Clinical Manifestation of ADTKD-HNF1B: A Case Series and Literature Review.
52
|
van der Made CI...de Baaij JH
|
26340261 |
2015 |
33 |
External transcutaneous ultrasound technique in the equine cricoarytenoideus dorsalis muscle: Assessment of muscle size and echogenicity with resting endoscopy.
61
|
Satoh M...Shimizu Y
|
31736125 |
2020 |
34 |
A radiomics signature to identify malignant and benign liver tumors on plain CT images.
61
|
Yin J...Lan L
|
32568166 |
2020 |
35 |
Prenatal diagnosis of submicroscopic chromosomal aberrations in fetuses with congenital cystic adenomatoid malformation by chromosomal microarray analysis.
61
|
Deng Q...Liao C
|
31581877 |
2019 |
36 |
Clinical characteristics of HNF1B-related disorders in a Japanese population.
61
|
Nagano C...Iijima K
|
31131422 |
2019 |
37 |
Ufl1/RCAD, a Ufm1 E3 ligase, has an intricate connection with ER stress.
61
|
Xie Z...Pan Z
|
31129212 |
2019 |
38 |
Not only Alagille syndrome. Syndromic paucity of interlobular bile ducts secondary to HNF1β deficiency: a case report and literature review.
61
|
Pinon M...Calvo PL
|
30791938 |
2019 |
39 |
Urinary proteome signature of Renal Cysts and Diabetes syndrome in children.
61
|
Ricci P...Zurbig P
|
30778115 |
2019 |
40 |
Hypomagnesaemia is absent in children with autosomal dominant polycystic kidney disease.
61
|
Seeman T...John U
|
29874928 |
2019 |
41 |
Metabolic Profiling of Multiorgan Samples: Evaluation of MODY5/RCAD Mutant Mice.
61
|
Torell F...Lundstedt T
|
29873499 |
2018 |
42 |
MODY3, renal cysts, and Dandy-Walker variants with a microdeletion spanning the HNF1A gene.
61
|
Matsukura H...Yorifuji T
|
28766492 |
2017 |
43 |
[A case of renal cysts and diabetes syndrome presenting with gout as initial symptom].
61
|
Wang Q...Wang Q
|
28355727 |
2017 |
44 |
Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases.
61
|
Erger F...Zerres K
|
28283827 |
2017 |
45 |
RCAD/BiP pathway is necessary for the proper synthesis of digestive enzymes and secretory function of the exocrine pancreas.
61
|
Miller C...Sabbatini ME
|
28104585 |
2017 |
46 |
Identification of the First Riboflavin Catabolic Gene Cluster Isolated from Microbacterium maritypicum G10.
61
|
Xu H...Begley TP
|
27590337 |
2016 |
47 |
Prenatal diagnosis of fetal multicystic dysplastic kidney via high-resolution whole-genome array.
61
|
Fu F...Liao C
|
26932690 |
2016 |
48 |
Hepatocyte Nuclear Factor 1β-Associated Kidney Disease: More than Renal Cysts and Diabetes.
61
|
Verhave JC...Nijenhuis T
|
26319241 |
2016 |
49 |
RCAD/Ufl1, a Ufm1 E3 ligase, is essential for hematopoietic stem cell function and murine hematopoiesis.
61
|
Zhang M...Li H
|
25952549 |
2015 |
50 |
Attenuation of Replication-Competent Adenovirus Serotype 26 Vaccines by Vectorization.
61
|
Maxfield LF...Barouch DH
|
26376928 |
2015 |