PMC Articles for MedGen (Select 1392102) - PMC

Sunita M. C. De Sousa, Kathy H. C. Wu, Kevin Colclough, Lesley Rawlings, Andrew Dubowsky, Melissa Monnik, Nicola Poplawski, Hamish S. Scott, Michael Horowitz, David J. Torpy

Acta Diabetol. 2024; 61(2): 181–188. Published online 2023 Oct 9. doi: 10.1007/s00592-023-02193-x

PMCID:: PMC10866744

Article PDF–515K

Select item 108354995.

Management of monogenic diabetes in pregnancy: A narrative review

Mohammad Sadiq Jeeyavudeen, Sarah R Murray, Mark W J Strachan

World J Diabetes. 2024 Jan 15; 15(1): 15–23. Published online 2024 Jan 15. doi: 10.4239/wjd.v15.i1.15

PMCID:: PMC10835499

Article PDF–1.8M

Select item 107847956.

Genetic perspectives on childhood monogenic diabetes: Diagnosis, management, and future directions

Hong-Yan Sun, Xiao-Yan Lin

World J Diabetes. 2023 Dec 15; 14(12): 1738–1753. Published online 2023 Dec 15. doi: 10.4239/wjd.v14.i12.1738

PMCID:: PMC10784795

Article PDF–3.6M

Select item 107576157.

Whole-exome sequencing reveals novel variants of monogenic diabetes in Tunisia: impact on diagnosis and healthcare management

Nadia Kheriji, Hamza Dallali, Ismail Gouiza, Meriem Hechmi, Faten Mahjoub, Mehdi Mrad, Asma Krir, Manel Soltani, Hajer Trabelsi, Walid Hamdi, Afef Bahlous, Melika Ben Ahmed, Henda Jamoussi, Rym Kefi

Front Genet. 2023; 14: 1224284. Published online 2023 Dec 14. doi: 10.3389/fgene.2023.1224284

PMCID:: PMC10757615

Article PDF–1.4M

Select item 106279208.

Characterisation of HNF1A variants in paediatric diabetes in Norway using functional and clinical investigations to unmask phenotype and monogenic diabetes

Pernille Svalastoga, Alba Kaci, Janne Molnes, Marie H. Solheim, Bente B. Johansson, Lars Krogvold, Torild Skrivarhaug, Eivind Valen, Stefan Johansson, Anders Molven, Jørn V. Sagen, Eirik Søfteland, Lise Bjørkhaug, Erling Tjora, Ingvild Aukrust, Pål R. Njølstad

Diabetologia. 2023; 66(12): 2226–2237. Published online 2023 Oct 5. doi: 10.1007/s00125-023-06012-4

PMCID:: PMC10627920

Article PDF–1.5M

Select item 106206129.

Diagnosis, treatment and disclosure: A qualitative exploration of participant challenges in a Monogenic Diabetes Registry

Forough Noohi, Manu S. Sundaresan, Rochelle N. Naylor, Lainie Friedman Ross

Genet Med. Author manuscript; available in PMC 2024 Apr 1.

Published in final edited form as: Genet Med. 2023 Apr; 25(4): 100019. Published online 2023 Jan 20. doi: 10.1016/j.gim.2023.100019

PMCID:: PMC10620612

Article PDF–93K

Select item 1055780710.

Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes

Philip Schroeder, Ravi Mandla, Alicia Huerta-Chagoya, Ahmed Alkanak, Dorka Nagy, Lukasz Szczerbinski, Jesper G.S. Madsen, Joanne B. Cole, Bianca Porneala, Kenneth Westerman, Josephine H. Li, Toni I. Pollin, Jose C. Florez, Anna L. Gloyn, Inês Cebola, Alisa Manning, Aaron Leong, Miriam Udler, Josep M. Mercader

Version 1. medRxiv. Preprint. 2023 Sep 29. doi: 10.1101/2023.09.28.23296244

PMCID:: PMC10557807

Article PDF–12M

Select item 1055099811.

The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinion

Rinki Murphy, Kevin Colclough, Toni I. Pollin, Jennifer M. Ikle, Pernille Svalastoga, Kristin A. Maloney, Cécile Saint-Martin, Janne Molnes, ADA/EASD PMDI, Shivani Misra, Ingvild Aukrust, Elisa de Franco, Sarah E. Flanagan, Pål R. Njølstad, Liana K. Billings, Katharine R. Owen, Anna L. Gloyn

Commun Med (Lond) 2023; 3: 136. Published online 2023 Oct 5. doi: 10.1038/s43856-023-00369-8

PMCID:: PMC10550998

Article PDF–1.5M

Select item 1038260612.

Alexandra E. Grier, Janet B. McGill, Sandra M. Lord, Cate Speake, Carla Greenbaum, Chester E. Chamberlain, Michael S. German, Mark S. Anderson, Irl B. Hirsch

AACE Clin Case Rep. 2023 Jul-Aug; 9(4): 101–103. Published online 2023 Apr 7. doi: 10.1016/j.aace.2023.04.001

PMCID:: PMC10382606

Article PDF–369K

Select item 1020631013.

Genetic testing for misclassified monogenic diabetes in Māori and Pacific peoples in Aōtearoa New Zealand with early-onset type 2 diabetes

Zanetta Toomata, Megan Leask, Mohanraj Krishnan, Murray Cadzow, Nicola Dalbeth, Lisa K. Stamp, Janak de Zoysa, Tony Merriman, Phillip Wilcox, Ofa Dewes, Rinki Murphy

Front Endocrinol (Lausanne) 2023; 14: 1174699. Published online 2023 May 10. doi: 10.3389/fendo.2023.1174699

PMCID:: PMC10206310

Article PDF–497K

Select item 1019779914.

Systematic Review of Treatment of Beta-Cell Monogenic Diabetes

Rochelle N. Naylor, Kashyap A. Patel, Jarno L.T. Kettunen, Jonna M.E. Männistö, Julie Støy, Jacques Beltrand, Michel Polak, ADA/EASD PMDI, Tina Vilsbøll, Siri A.W. Greeley, Andrew T. Hattersley, Tiinamaija Tuomi

Version 2. medRxiv. Preprint. 2023 May 12 [revised 2023 Sep 22]. doi: 10.1101/2023.05.12.23289807

PMCID:: PMC10197799

Article PDF–817K

Select item 1015330215.

A Systematic Review of the use of Precision Diagnostics in Monogenic Diabetes

Rinki Murphy, Kevin Colclough, Toni I. Pollin, Jennifer M. Ikle, Pernille Svalastoga, Kristin A. Maloney, Cécile Saint-Martin, Janne Molnes, ADA/EASD Precision Medicine Diabetes Initiative, Shivani Misra, Ingvild Aukrust, aiElisa de Franco, Sarah E. Flanagan, Pål R. Njølstad, Liana K. Billings, Katharine R Owen, Anna L Gloyn

Version 1. medRxiv. Preprint. 2023 Apr 19. doi: 10.1101/2023.04.15.23288269

PMCID:: PMC10153302

Article PDF–1.0M

Select item 1008004016.

Monogenic diabetes in New Zealand - An audit based revision of the monogenic diabetes genetic testing pathway in New Zealand

Francesca Harrington, Mark Greenslade, Kevin Colclough, Ryan Paul, Craig Jefferies, Rinki Murphy

Front Endocrinol (Lausanne) 2023; 14: 1116880. Published online 2023 Mar 24. doi: 10.3389/fendo.2023.1116880

PMCID:: PMC10080040

Article PDF–2.0M

Select item 989484717.

Pathogenic variants of Alport syndrome and monogenic diabetes identified by exome sequencing in a family

Hirofumi Watanabe, Shin Goto, Michihiro Hosojima, Hideyuki Kabasawa, Naofumi Imai, Yumi Ito, Ichiei Narita

Hum Genome Var. 2023; 10: 5. Published online 2023 Feb 2. doi: 10.1038/s41439-023-00233-0

PMCID:: PMC9894847

Article PDF–1.1M

Select item 983620018.

Acute Recurrent Pancreatitis in a Child With INS-Related Monogenic Diabetes and a Heterozygous Pathogenic CFTR Mutation

Rachel G Son, Balamurugan Kandasamy, Tiana Bowden, Ruba K Azzam, Scott A Oakes, Louis H Philipson, Siri Atma W Greeley

J Endocr Soc. 2023 Jan 6; 7(3): bvac182. Published online 2022 Dec 12. doi: 10.1210/jendso/bvac182

PMCID:: PMC9836200

Article PDF–371K

Select item 981318419.

Monogenic diabetes clinic (MDC): 3-year experience

Novella Rapini, Patrizia I. Patera, Riccardo Schiaffini, Paolo Ciampalini, Valentina Pampanini, Matteoli M. Cristina, Annalisa Deodati, Giorgia Bracaglia, Ottavia Porzio, Rosario Ruta, Antonio Novelli, Mafalda Mucciolo, Stefano Cianfarani, Fabrizio Barbetti

Acta Diabetol. 2023; 60(1): 61–70. Published online 2022 Sep 30. doi: 10.1007/s00592-022-01972-2