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Vaxillaire, Martine
139  Ergebnisse:
Personensuche X
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1

Dominant PDX1 deficiency causes highly penetrant diabetes a..:

Kouidrat, Youssef ; Le Collen, Lauriane ; Vaxillaire, Martine...
Diabetes & Metabolism.  50 (2024)  1 - p. 101507 , 2024
Link: https://doi.org/10.1016/..
 
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2

Exploring the role of purinergic receptor P2RY1 in type 2 d..:

Dance, Arnaud ; Fernandes, Justine ; Toussaint, Bénédicte...
Molecular Metabolism.  79 (2024)  - p. 101867 , 2024
Link: https://doi.org/10.1016/..
 
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3

Pathogenic monoallelic variants in GLIS3 increase type 2 di..:

Meulebrouck, Sarah ; Scherrer, Victoria ; Boutry, Raphaël...
Diabetologia.  67 (2023)  2 - p. 327-332 , 2023
Link: https://doi.org/10.1007/..
 
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4

Monogenic diabetes:

Bonnefond, Amélie ; Unnikrishnan, Ranjit ; Doria, Alessandro...
Nature Reviews Disease Primers.  9 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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5

Heterozygous pathogenic variants in POMC are not responsibl..:

Le Collen, Lauriane ; Delemer, Brigitte ; Poitou, Christine...
Genetics in Medicine.  25 (2023)  7 - p. 100857 , 2023
Link: https://doi.org/10.1016/..
 
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6

Compound genetic etiology in a patient with a syndrome incl..:

Le Collen, Lauriane ; Delemer, Brigitte ; Spodenkiewicz, Marta...
Orphanet Journal of Rare Diseases.  17 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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7

Monogenic diabetes characteristics in a transnational multi..:

Vaxillaire, Martine ; Bonnefond, Amélie ; Liatis, Stavros...
Diabetes Research and Clinical Practice.  171 (2021)  - p. 108553 , 2021
Link: https://doi.org/10.1016/..
 
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8

How Recent Advances in Genomics Improve Precision Diagnosis..:

Vaxillaire, Martine ; Froguel, Philippe ; Bonnefond, Amélie
Current Diabetes Reports.  19 (2019)  9 - p. , 2019
Link: https://doi.org/10.1007/..
 
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9

The unique clinical spectrum of maturity onset diabetes of ..:

Lebenthal, Yael ; Fisch Shvalb, Naama ; Gozlan, Yael...
Diabetes Research and Clinical Practice.  135 (2018)  - p. 18-22 , 2018
Link: https://doi.org/10.1016/..
 
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10

Mutations exomiques rares transmises au sein de familles de..:

Vaxillaire, Martine ; Vaxillaire, Martine ; Lecoeur, Cécile...
Diabetes & Metabolism.  43 (2017)  2 - p. A16 , 2017
Link: https://doi.org/10.1016/..
 
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11

A novelNEUROG3mutation in neonatal diabetes associated with..:

Hancili, Suna ; Bonnefond, Amélie ; Philippe, Julien...
Pediatric Diabetes.  19 (2017)  3 - p. 381-387 , 2017
Link: https://doi.org/10.1111/..
 
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12

Monogenic diabetes: Implementation of translational genomic..:

Vaxillaire, Martine ; Froguel, Philippe
Journal of Diabetes.  8 (2016)  6 - p. 782-795 , 2016
Link: https://doi.org/10.1111/..
 
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13

Impact of statistical models on the prediction of type 2 di..:

Yengo, Loic ; Arredouani, Abdelilah ; Marre, Michel...
Molecular Metabolism.  5 (2016)  10 - p. 918-925 , 2016
Link: https://doi.org/10.1016/..
 
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14

What Is the Best NGS Enrichment Method for the Molecular Di..:

Philippe, Julien ; Derhourhi, Mehdi ; Durand, Emmanuelle...
PLOS ONE.  10 (2015)  11 - p. e0143373 , 2015
Link: https://doi.org/10.1371/..
 
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15

Type 2 diabetes-related genetic risk scores associated with..:

Vaxillaire, Martine ; Yengo, Loïc ; Lobbens, Stéphane...
Diabetologia.  57 (2014)  8 - p. 1601-1610 , 2014
Link: https://doi.org/10.1007/..
 
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