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Meeting Abstracts

Identifying Pathogenic Variants of Monogenic Diabetes Using Targeted Exome Sequencing

SEUNG SHIN PARK, SE SONG JANG, YOUNG AH LEE, YOUNG MIN CHO, HAK CHUL JANG, KYONG SOO PARK, SOO HEON KWAK
Journal: Diabetes
Diabetes 2018;67(Supplement_1):267-OR
https://doi.org/10.2337/db18-267-OR
Published: 01 July 2018
View article titled, Identifying Pathogenic Variants of Monogenic Diabetes Using Targeted Exome Sequencing
Journal Articles

Insights From Molecular Characterization of Adult Patients of Families With Multigenerational Diabetes

Serena Pezzilli, Ornella Ludovico, Tommaso Biagini, Luana Mercuri, Federica Alberico, Eleonora Lauricella, Hamza Dallali, Daniele Capocefalo, Massimo Carella, Elide Miccinilli, Pamela Piscitelli, Maria Giovanna Scarale, Tommaso Mazza, Vincenzo Trischitta, Sabrina Prudente
Journal: Diabetes
Diabetes 2018;67(1):137–145
https://doi.org/10.2337/db17-0867
Published: 09 October 2017
View article titled, Insights From Molecular Characterization of Adult Patients of Families With Multigenerational Diabetes
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Includes: Supplementary data
Journal Articles

Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation

Jayne A.L. Houghton, Galvin H. Swift, Charles Shaw-Smith, Sarah E. Flanagan, Elisa de Franco, Richard Caswell, Khalid Hussain, Sarar Mohamed, Majedah Abdulrasoul, Andrew T. Hattersley, Raymond J. MacDonald, Sian Ellard
Journal: Diabetes
Diabetes 2016;65(9):2810–2815
https://doi.org/10.2337/db15-1666
Published: 09 June 2016
View article titled, Isolated Pancreatic Aplasia Due to a Hypomorphic <em>PTF1A</em> Mutation
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Journal Articles

A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly

Baroj Abdulkarim, Marc Nicolino, Mariana Igoillo-Esteve, Mathilde Daures, Sophie Romero, Anne Philippi, Valérie Senée, Miguel Lopes, Daniel A. Cunha, Heather P. Harding, Céline Derbois, Nathalie Bendelac, Andrew T. Hattersley, Décio L. Eizirik, David Ron, Miriam Cnop, Cécile Julier
Journal: Diabetes
Diabetes 2015;64(11):3951–3962
https://doi.org/10.2337/db15-0477
Published: 09 July 2015
View article titled, A Missense Mutation in <em>PPP1R15B</em> Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly
Open the PDF for A Missense Mutation in <em>PPP1R15B</em> Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly in another window
Includes: Supplementary data
Journal Articles

Autosomal Dominant Diabetes Arising From a Wolfram Syndrome 1 Mutation

Lori L. Bonnycastle, Peter S. Chines, Takashi Hara, Jeroen R. Huyghe, Amy J. Swift, Pirkko Heikinheimo, Jana Mahadevan, Sirkku Peltonen, Hanna Huopio, Pirjo Nuutila, Narisu Narisu, Rachel L. Goldfeder, Michael L. Stitzel, Simin Lu, Michael Boehnke, Fumihiko Urano, Francis S. Collins, Markku Laakso
Journal: Diabetes
Diabetes 2013;62(11):3943–3950
https://doi.org/10.2337/db13-0571
Published: 18 October 2013
View article titled, Autosomal Dominant Diabetes Arising From a Wolfram Syndrome 1 Mutation
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