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Items: 1 to 20 of 46

1.
MNX1 mutations causing neonatal diabetes: Review of the literature and report of a case with extra‐pancreatic congenital defects presenting in severe diabetic ketoacidosis
Hanan Hassan Aly, Elisa De Franco, Sarah E. Flanagan, Yasmine I. Elhenawy
J Diabetes Investig. 2023 Apr; 14(4): 516–521. Published online 2022 Dec 31. doi: 10.1111/jdi.13968
PMCID:
PMC10034954
ArticlePDF–253K
2.
Expression of Selected miRNAs in Normal and Cancer-Associated Fibroblasts and in BxPc3 and MIA PaCa-2 Cell Lines of Pancreatic Ductal Adenocarcinoma
Václav Mandys, Alexey Popov, Robert Gürlich, Jan Havránek, Lucie Pfeiferová, Michal Kolář, Jana Vránová, Karel Smetana, Jr., Lukáš Lacina, Pavol Szabo
Int J Mol Sci. 2023 Feb; 24(4): 3617. Published online 2023 Feb 10. doi: 10.3390/ijms24043617
PMCID:
PMC9961675
ArticlePDF–2.0M
3.
Genetic Etiology of Neonatal Diabetes Mellitus in Vietnamese Infants and Characteristics of Those With INS Gene Mutations
Can Thi Bich Ngoc, Vu Chi Dung, Elisa De Franco, Nguyen Ngoc Lan, Bui Phuong Thao, Nguyen Ngoc Khanh, Sarah E. Flanagan, Maria E. Craig, Nguyen Huy Hoang, Tran Minh Dien
Front Endocrinol (Lausanne) 2022; 13: 866573. Published online 2022 Apr 19. doi: 10.3389/fendo.2022.866573
PMCID:
PMC9063464
ArticlePDF–1.5M
4.
Molecular Genetics, Clinical Characteristics, and Treatment Outcomes of KATP-Channel Neonatal Diabetes Mellitus in Vietnam National Children’s Hospital
Can Thi Bich Ngoc, Tran Minh Dien, Elisa De Franco, Sian Ellard, Jayne A. L. Houghton, Nguyen Ngoc Lan, Bui Phuong Thao, Nguyen Ngoc Khanh, Sarah E. Flanagan, Maria E. Craig, Vu Chi Dung
Front Endocrinol (Lausanne) 2021; 12: 727083. Published online 2021 Sep 9. doi: 10.3389/fendo.2021.727083
PMCID:
PMC8458931
ArticlePDF–780K
5.
Genotype and Phenotype Heterogeneity in Neonatal Diabetes: A Single Centre Experience in Turkey
Yasemin Denkboy Öngen, Erdal Eren, Özgecan Demirbaş, Elif Sobu, Sian Ellard, Elisa De Franco, Ömer Tarım
J Clin Res Pediatr Endocrinol. 2021 Mar; 13(1): 80–87. Published online 2021 Feb 26. doi: 10.4274/jcrpe.galenos.2020.2020.0093
PMCID:
PMC7947723
ArticlePDF–195K
6.
Neonatal overfeeding during lactation rapidly and permanently misaligns the hepatic circadian rhythm and programmes adult NAFLD
Francesc Ribas-Aulinas, Silvia Ribo, Marcela Parra-Vargas, Antonio Fernández-Pérez, Judith Cebrià, Maria Guardiola-Perello, Marta Ramon-Krauel, Carles Lerin, Ruben Diaz, Susana G. Kalko, Mario Vallejo, Antoni Díez-Noguera, Trinitat Cambras, Josep C. Jimenez-Chillaron
Mol Metab. 2021 Mar; 45: 101162. Published online 2021 Jan 7. doi: 10.1016/j.molmet.2021.101162
PMCID:
PMC7851182
ArticlePDF–2.5M
7.
Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated ABCC8 Permanent Neonatal Diabetes
Pamela Bowman, Frances Mathews, Fabrizio Barbetti, Maggie H. Shepherd, Janine Sanchez, Barbara Piccini, Jacques Beltrand, Lisa R. Letourneau-Freiberg, Michel Polak, Siri Atma W. Greeley, Eamon Rawlins, Tarig Babiker, Nicholas J. Thomas, Elisa De Franco, Sian Ellard, Sarah E. Flanagan, Andrew T. Hattersley
Diabetes Care. 2021 Jan; 44(1): 35–42. Published online 2020 Nov 12. doi: 10.2337/dc20-1520
PMCID:
PMC7783935
ArticlePDF–897K
8.
Prevalence of Permanent Neonatal Diabetes in Slovakia and Successful Replacement of Insulin with Sulfonylurea Therapy in KCNJ11 and ABCC8 Mutation Carriers
Juraj Stanik, Daniela Gasperikova, Magdalena Paskova, Lubomir Barak, Jana Javorkova, Emilia Jancova, Miriam Ciljakova, Peter Hlava, Jozef Michalek, Sarah E. Flanagan, Ewan Pearson, Andrew T. Hattersley, Sian Ellard, Iwar Klimes
J Clin Endocrinol Metab. Author manuscript; available in PMC 2021 Oct 19.
Published in final edited form as: J Clin Endocrinol Metab. 2007 Apr 1; 92(4): 1276–82. Published online 2007 Jan 9. doi: 10.1210/jc.2006-2490
PMCID:
PMC7611849
ArticlePDF–933K
9.
Clinical characteristics, molecular features and long-term follow up of 15 patients with neonatal diabetes: a single center experience
Zehra Yavas Abali, Elisa De Franco, Esin Karakilic Ozturan, Sukran Poyrazoglu, Ruveyde Bundak, Firdevs Bas, Sarah E Flanagan, Feyza Darendeliler
Horm Res Paediatr. Author manuscript; available in PMC 2021 Oct 12.
Published in final edited form as: Horm Res Paediatr. 2020 Jan 1; 93(7-8): 423–432. Published online 2021 Jan 26. doi: 10.1159/000512247
PMCID:
PMC7611806
ArticlePDF–658K
10.
Insulin Mutation Screening in 1044 Patients with Diabetes: Mutations in the INS gene are a Common Cause of Neonatal Diabetes but a Rare Cause of Diabetes Diagnosed in Childhood or Adulthood
Emma L. Edghill, Sarah E. Flanagan, Ann-Marie Patch, Chris Boustred, Andrew Parrish, Beverley Shields, Maggie H. Shepherd, Khalid Hussain, Ritika R. Kapoor, Maciej Malecki, Michael J. MacDonald, Julie Støy, Donald F. Steiner, Louis H. Philipson, Graeme I. Bell, Other members of the Neonatal Diabetes International Collaborative Group: , Andrew T. Hattersley, Sian Ellard
Diabetes. Author manuscript; available in PMC 2021 Oct 11.
Published in final edited form as: Diabetes. 2008 Apr 1; 57(4): 1034–42. Published online 2007 Dec 27. doi: 10.2337/db07-1405
PMCID:
PMC7611804
ArticlePDF–1.1M
11.
Clinical Characteristics and Long-term Follow-up of Patients with Diabetes Due To PTF1A Enhancer Mutations
Huseyin Demirbilek, Atilla Cayir, Sarah E Flanagan, Ruken Yıldırım, Yılmaz Kor, Fatih Gurbuz, Belma Haliloğlu, Melek Yıldız, Rıza Taner Baran, Emine Demet Akbas, Meliha Demiral, Edip Ünal, Gulcin Arslan, Dogus Vuralli, Gonul Buyukyilmaz, Sara Al-Khawaga, Amira Saeed, Maryam Al Maadheed, Amel Khalifa, Hasan Onal, Bilgin Yuksel, Mehmet Nuri Ozbek, Abdullah Bereket, Andrew T Hattersley, Khalid Hussain, Elisa De Franco
J Clin Endocrinol Metab. 2020 Dec; 105(12): e4351–e4359. Published online 2020 Sep 7. doi: 10.1210/clinem/dgaa613
PMCID:
PMC7526731
Article
12.
Patterns of postmeal insulin secretion in individuals with sulfonylurea-treated KCNJ11 neonatal diabetes show predominance of non-KATP-channel pathways
Pamela Bowman, Timothy J McDonald, Bridget A Knight, Sarah E Flanagan, Maria Leveridge, Steve R Spaull, Beverley M Shields, Suzanne Hammersley, Maggie H Shepherd, Robert C Andrews, Kashyap A Patel, Andrew T Hattersley
BMJ Open Diabetes Res Care. 2019; 7(1): e000721. Published online 2019 Dec 18. doi: 10.1136/bmjdrc-2019-000721
PMCID:
PMC6936449
ArticlePDF–447K
13.
Association of Birth Weight With Type 2 Diabetes and Glycemic Traits: A Mendelian Randomization Study
BIRTH-GENE (BIG) Study Working Group, Tao Huang, Tiange Wang, Yan Zheng, Christina Ellervik, Xiang Li, Meng Gao, Zhe Fang, Jin-Fang Chai, Tarun veer S. Ahluwalia, Yujie Wang, Trudy Voortman, Raymond Noordam, Alexis Frazier-Wood, Markus Scholz, Emily Sonestedt, Masato Akiyama, Rajkumar Dorajoo, Ang Zhou, Tuomas O. Kilpeläinen, Marcus E. Kleber, Sarah R. Crozier, Keith M. Godfrey, Rozenn Lemaitre, Janine F. Felix, Yuan Shi, Preeti Gupta, Chiea-Chuen Khor, Terho Lehtimäki, Carol A. Wang, Carla M. T. Tiesler, Elisabeth Thiering, Marie Standl, Peter Rzehak, Eirini Marouli, Meian He, Cécile Lecoeur, Dolores Corella, Chao-Qiang Lai, Luis A. Moreno, Niina Pitkänen, Colin A. Boreham, Tao Zhang, Seang Mei Saw, Paul M. Ridker, Mariaelisa Graff, Frank J. A. van Rooij, Andre G. Uitterlinden, Albert Hofman, Diana van Heemst, Frits R. Rosendaal, Renée de Mutsert, Ralph Burkhardt, Christina-Alexandra Schulz, Ulrika Ericson, Yoichiro Kamatani, Jian-Min Yuan, Chris Power, Torben Hansen, Thorkild I. A. Sørensen, Anne Tjønneland, Kim Overvad, Graciela Delgado, Cyrus Cooper, Luc Djousse, Fernando Rivadeneira, Karen Jameson, Wanting Zhao, Jianjun Liu, Nanette R. Lee, Olli Raitakari, Mika Kähönen, Jorma Viikari, Veit Grote, Jean-Paul Langhendries, Berthold Koletzko, Joaquin Escribano, Elvira Verduci, George Dedoussis, Caizheng Yu, Yih Chung Tham, Blanche Lim, Sing Hui Lim, Philippe Froguel, Beverley Balkau, Nadia R. Fink, Rebecca K. Vinding, Astrid Sevelsted, Hans Bisgaard, Oscar Coltell, Jean Dallongeville, Frédéric Gottrand, Katja Pahkala, Harri Niinikoski, Elina Hyppönen, Oluf Pedersen, Winfried März, Hazel Inskip, Vincent W. V. Jaddoe, Elaine Dennison, Tien Yin Wong, Charumathi Sabanayagam, E-Shyong Tai, Karen L. Mohlke, David A. Mackey, Dariusz Gruszfeld, Panagiotis Deloukas, Katherine L. Tucker, Frédéric Fumeron, Klaus Bønnelykke, Peter Rossing, Ramon Estruch, Jose M. Ordovas, Donna K. Arnett, Aline Meirhaeghe, Philippe Amouyel, Ching-Yu Cheng, Xueling Sim, Yik Ying Teo, Rob M. van Dam, Woon-Puay Koh, Marju Orho-Melander, Markus Loeffler, Michiaki Kubo, Joachim Thiery, Dennis O. Mook-Kanamori, Dariush Mozaffarian, Bruce M. Psaty, Oscar H. Franco, Tangchun Wu, Kari E. North, George Davey Smith, Jorge E. Chavarro, Daniel I. Chasman, Lu Qi
JAMA Netw Open. 2019 Sep; 2(9): e1910915. Published online 2019 Sep 20. doi: 10.1001/jamanetworkopen.2019.10915
PMCID:
PMC6755534
Article
14.
Trisomy 21 Is a Cause of Permanent Neonatal Diabetes That Is Autoimmune but Not HLA Associated
Matthew B. Johnson, Elisa De Franco, Siri Atma W. Greeley, Lisa R. Letourneau, Kathleen M. Gillespie, International DS-PNDM Consortium, Matthew N. Wakeling, Sian Ellard, Sarah E. Flanagan, Kashyap A. Patel, Andrew T. Hattersley
Diabetes. 2019 Jul; 68(7): 1528–1535. Published online 2019 Apr 8. doi: 10.2337/db19-0045
PMCID:
PMC6609990
ArticlePDF–672K
15.
Cognitive, neurological and behavioral features in adults with KCNJ11 neonatal diabetes
Pamela Bowman, Jacob Day, Lorna Torrens, Maggie H Shepherd, Bridget A Knight, Tamsin J Ford, Sarah E Flanagan, Ali Chakera, Andrew T Hattersley, Adam Zeman
Diabetes Care. Author manuscript; available in PMC 2019 Aug 1.
Published in final edited form as: Diabetes Care. 2019 Feb; 42(2): 215–224. Published online 2018 Oct 30. doi: 10.2337/dc18-1060
PMCID:
PMC6354912
ArticlePDF–322K
16.
Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study
Pamela Bowman, Åsta Sulen, Fabrizio Barbetti, Jacques Beltrand, Pernille Svalastoga, Ethel Codner, Ellen H Tessmann, Petur B Juliusson, Torild Skrivarhaug, Ewan R Pearson, Sarah E Flanagan, Tarig Babiker, Nicholas J Thomas, Maggie H Shepherd, Sian Ellard, Iwar Klimes, Magdalena Szopa, Michel Polak, Dario Iafusco, Andrew T Hattersley, Pål R Njølstad, Neonatal Diabetes International Collaborative Group
Lancet Diabetes Endocrinol. 2018 Aug; 6(8): 637–646. doi: 10.1016/S2213-8587(18)30106-2
Correction in:
Lancet Diabetes Endocrinol. 2018 Sep; 6(9): e17.
PMCID:
PMC6058077
ArticlePDF–391K
17.
A Novel KCNJ11 Mutation Associated with Transient Neonatal Diabetes
Evangelia Gole, Stavroula Oikonomou, Sian Ellard, Elisa De Franco, Kyriaki Karavanaki
J Clin Res Pediatr Endocrinol. 2018 Jun; 10(2): 175–178. Published online 2018 May 18. doi: 10.4274/jcrpe.5166
PMCID:
PMC5985388
ArticlePDF–383K
18.
Ketoacidosis in Neonatal Diabetes Mellitus, Part of Wolcott-Rallison Syndrome
Poorna Gopal Azad Sreeramaneni, Subba Rao V. Ambula
Am J Case Rep. 2017; 18: 719–722. Published online 2017 Jun 27. doi: 10.12659/AJCR.902804
PMCID:
PMC5499629
ArticlePDF–684K
19.
DEND Syndrome with Heterozygous KCNJ11 Mutation Successfully Treated with Sulfonylurea
Ja Hyang Cho, Eungu Kang, Beom Hee Lee, Gu-Hwan Kim, Jin-Ho Choi, Han-Wook Yoo
J Korean Med Sci. 2017 Jun; 32(6): 1042–1045. Published online 2017 Apr 11. doi: 10.3346/jkms.2017.32.6.1042
PMCID:
PMC5426229
ArticlePDF–834K
20.
Preservation of Reduced Numbers of Insulin-Positive Cells in Sulfonylurea-Unresponsive KCNJ11-Related Diabetes
Siri Atma W. Greeley, Mark C. Zielinski, Ananta Poudel, Honggang Ye, Shivani Berry, Jerome B. Taxy, David Carmody, Donald F. Steiner, Louis H. Philipson, Jamie R. Wood, Manami Hara
J Clin Endocrinol Metab. 2017 Jan 1; 102(1): 1–5. Published online 2016 Nov 1. doi: 10.1210/jc.2016-2826
PMCID:
PMC5413092
Article

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