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PubPharm (107)
1
Heterozygous
RFX6
protein truncating variants are associated with Maturity-Onset Diabetes of the Young (MODY) with reduced penetrance
enthalten in:
bioRxiv.org
| 2024
von
Patel, K.
|
Kettunen, J.
|
Laakso, M.
| +15
Wird geladen...
2
The penetrance of age-related monogenic disease depends on ascertainment context
enthalten in:
bioRxiv.org
| 2024
von
Mirshahi, U.
|
Colclough, K.
|
Wright, C.
| +12
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3
Penetrance and expressivity of mitochondrial variants in a large clinically unselected population
enthalten in:
Human molecular genetics
| 2024
von
Cannon, S.
|
Hall, T.
|
Hawkes, G.
| +7
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4
Identification of monogenic diabetes in an Australian cohort using the Exeter maturity-onset diabetes of the young (MODY) probability calculator and next-generation sequencing gene panel testing
enthalten in:
Acta diabetologica
| 2024
von
De Sousa, S.
|
Wu, K.
|
Colclough, K.
| +7
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5
Phenotypic effect of GBA1 variants in individuals with and without Parkinson's disease : The RAPSODI study
enthalten in:
Neurobiology of disease
| 2023
von
Toffoli, M.
|
Chohan, H.
|
Mullin, S.
| +22
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6
Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicine
enthalten in:
Nature medicine
| 2023
von
Tobias, D.
|
Merino, J.
|
Ahmad, A.
| +98
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7
Expanding the Phenotype of TRMT10A Mutations : Case Report and a Review of the Existing Cases
enthalten in:
Journal of clinical research in pediatric endocrinology
| 2023
von
Şıklar, Z.
|
Kontbay, T.
|
Colclough, K.
| +2
Wird geladen...
8
The relationship between islet autoantibody status and the genetic risk of type 1 diabetes in adult-onset type 1 diabetes
enthalten in:
Diabetologia
| 2023
von
Thomas, N.
|
Walkey, H.
|
Kaur, A.
| +7
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9
Evaluation of evidence for pathogenicity demonstrates that
BLK, KLF11
and
PAX4
should not be included in diagnostic testing for MODY
enthalten in:
bioRxiv.org
| 2023
von
Laver, T.
|
Wakeling, M.
|
Knox, O.
| +6
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10
Monogenic diabetes in New Zealand - An audit based revision of the monogenic diabetes genetic testing pathway in New Zealand
enthalten in:
Frontiers in endocrinology
| 2023
von
Harrington, F.
|
Greenslade, M.
|
Colclough, K.
| +3
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107
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Diabetologia
12
Diabetes
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Human mutation
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bioRxiv.org
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Acta diabetologica
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Human molecular genetics
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Thema
52
Journal Article
38
Research Support, Non-U.S. Gov't
22
MODY
18
Hepatocyte Nuclear Factor 1-alpha
17
Glucokinase
13
HNF1A protein, human
11
EC 2.7.1.2
11
Hepatocyte Nuclear Factor 4
11
Monogenic diabetes
9
HNF4A protein, human
7
Case Reports
7
HNF1A
7
Islet autoantibodies
7
Type 1 diabetes
6
Diabetes
6
Sulfonylurea Compounds
6
Treatment
5
Autoantibodies
5
Biomarkers
5
Blood Glucose
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Erscheinungszeitraum
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2020-
49
2010-2019
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2000-2009
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