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Items: 1 to 20 of 300

1.

Exome sequencing and genetic testing for MODY.

Johansson S, Irgens H, Chudasama KK, Molnes J, Aerts J, Roque FS, Jonassen I, Levy S, Lima K, Knappskog PM, Bell GI, Molven A, Njølstad PR.

PLoS One. 2012;7(5):e38050. doi: 10.1371/journal.pone.0038050. Epub 2012 May 25.

2.

Genetic testing for monogenic diabetes using targeted next-generation sequencing in patients with maturity-onset diabetes of the young.

Szopa M, Ludwig-Gałęzowska A, Radkowski P, Skupień J, Zapała B, Płatek T, Klupa T, Kieć-Wilk B, Borowiec M, Młynarski W, Wołkow P, Małecki MT.

Pol Arch Med Wewn. 2015;125(11):845-51. Epub 2015 Nov 9.

3.

Clinical whole exome sequencing in early onset diabetes patients.

Kwak SH, Jung CH, Ahn CH, Park J, Chae J, Jung HS, Cho YM, Lee DH, Kim JI, Park KS.

Diabetes Res Clin Pract. 2016 Dec;122:71-77. doi: 10.1016/j.diabres.2016.10.005. Epub 2016 Oct 15.

PMID:
27810688
4.

A three-step programmed method for the identification of causative gene mutations of maturity onset diabetes of the young (MODY).

Li Q, Cao X, Qiu HY, Lu J, Gao R, Liu C, Yuan MX, Yang GR, Yang JK.

Gene. 2016 Aug 22;588(2):141-8. doi: 10.1016/j.gene.2016.05.021. Epub 2016 May 14.

PMID:
27185633
5.

Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals.

Bansal V, Gassenhuber J, Phillips T, Oliveira G, Harbaugh R, Villarasa N, Topol EJ, Seufferlein T, Boehm BO.

BMC Med. 2017 Dec 6;15(1):213. doi: 10.1186/s12916-017-0977-3.

6.

Identification of Candidate Gene Variants in Korean MODY Families by Whole-Exome Sequencing.

Shim YJ, Kim JE, Hwang SK, Choi BS, Choi BH, Cho EM, Jang KM, Ko CW.

Horm Res Paediatr. 2015;83(4):242-51. doi: 10.1159/000368657. Epub 2015 Mar 7.

7.

Maturity onset diabetes of the young in India - a distinctive mutation pattern identified through targeted next-generation sequencing.

Chapla A, Mruthyunjaya MD, Asha HS, Varghese D, Varshney M, Vasan SK, Venkatesan P, Nair V, Mathai S, Paul TV, Thomas N.

Clin Endocrinol (Oxf). 2015 Apr;82(4):533-42. doi: 10.1111/cen.12541. Epub 2014 Aug 7.

PMID:
25041077
8.

Maturity onset diabetes of youth (MODY) in Turkish children: sequence analysis of 11 causative genes by next generation sequencing.

Ağladıoğlu SY, Aycan Z, Çetinkaya S, Baş VN, Önder A, Peltek Kendirci HN, Doğan H, Ceylaner S.

J Pediatr Endocrinol Metab. 2016 Apr;29(4):487-96. doi: 10.1515/jpem-2015-0039.

PMID:
26669242
9.

Comprehensive Maturity Onset Diabetes of the Young (MODY) Gene Screening in Pregnant Women with Diabetes in India.

Doddabelavangala Mruthyunjaya M, Chapla A, Hesarghatta Shyamasunder A, Varghese D, Varshney M, Paul J, Inbakumari M, Christina F, Varghese RT, Kuruvilla KA, V Paul T, Jose R, Regi A, Lionel J, Jeyaseelan L, Mathew J, Thomas N.

PLoS One. 2017 Jan 17;12(1):e0168656. doi: 10.1371/journal.pone.0168656. eCollection 2017.

10.

Clinical and molecular characterization of a novel INS mutation identified in patients with MODY phenotype.

Piccini B, Artuso R, Lenzi L, Guasti M, Braccesi G, Barni F, Casalini E, Giglio S, Toni S.

Eur J Med Genet. 2016 Nov;59(11):590-595. doi: 10.1016/j.ejmg.2016.09.016. Epub 2016 Sep 19.

PMID:
27659712
11.

Molecular diagnosis of maturity-onset diabetes of the young (MODY) in Turkish children by using targeted next-generation sequencing.

Anık A, Çatlı G, Abacı A, Sarı E, Yeşilkaya E, Korkmaz HA, Demir K, Altıncık A, Tuhan HÜ, Kızıldağ S, Özkan B, Ceylaner S, Böber E.

J Pediatr Endocrinol Metab. 2015 Nov 1;28(11-12):1265-71. doi: 10.1515/jpem-2014-0430.

PMID:
26226118
12.

Co-inheritance of HNF1a and GCK mutations in a family with maturity-onset diabetes of the young (MODY): implications for genetic testing.

López-Garrido MP, Herranz-Antolín S, Alija-Merillas MJ, Giralt P, Escribano J.

Clin Endocrinol (Oxf). 2013 Sep;79(3):342-7. doi: 10.1111/cen.12050. Epub 2013 Apr 1.

PMID:
23009393
13.

A family with the Arg103Pro mutation in the NEUROD1 gene detected by next-generation sequencing - Clinical characteristics of mutation carriers.

Szopa M, Ludwig-Galezowska AH, Radkowski P, Skupien J, Machlowska J, Klupa T, Wolkow P, Borowiec M, Mlynarski W, Malecki MT.

Eur J Med Genet. 2016 Feb;59(2):75-9. doi: 10.1016/j.ejmg.2016.01.002. Epub 2016 Jan 8.

PMID:
26773576
14.

Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach.

Alkorta-Aranburu G, Carmody D, Cheng YW, Nelakuditi V, Ma L, Dickens JT, Das S, Greeley SAW, Del Gaudio D.

Mol Genet Metab. 2014 Dec;113(4):315-320. doi: 10.1016/j.ymgme.2014.09.007. Epub 2014 Sep 28.

15.

A preliminary study to evaluate the strategy of combining clinical criteria and next generation sequencing (NGS) for the identification of monogenic diabetes among multi-ethnic Asians.

Ang SF, Lim SC, Tan CSh, Fong JC, Kon WY, Lian JX, Subramanium T, Sum CF.

Diabetes Res Clin Pract. 2016 Sep;119:13-22. doi: 10.1016/j.diabres.2016.06.008. Epub 2016 Jul 1.

PMID:
27420379
16.

Targeted 46-gene and clinical exome sequencing for mutations causing cardiomyopathies.

Waldmüller S, Schroeder C, Sturm M, Scheffold T, Imbrich K, Junker S, Frische C, Hofbeck M, Bauer P, Bonin M, Gawaz M, Gramlich M.

Mol Cell Probes. 2015 Oct;29(5):308-14. doi: 10.1016/j.mcp.2015.05.004. Epub 2015 May 12.

PMID:
25979592
17.

Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry.

Johansson BB, Irgens HU, Molnes J, Sztromwasser P, Aukrust I, Juliusson PB, Søvik O, Levy S, Skrivarhaug T, Joner G, Molven A, Johansson S, Njølstad PR.

Diabetologia. 2017 Apr;60(4):625-635. doi: 10.1007/s00125-016-4167-1. Epub 2016 Dec 2.

PMID:
27913849
18.

Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene.

Bonnefond A, Philippe J, Durand E, Dechaume A, Huyvaert M, Montagne L, Marre M, Balkau B, Fajardy I, Vambergue A, Vatin V, Delplanque J, Le Guilcher D, De Graeve F, Lecoeur C, Sand O, Vaxillaire M, Froguel P.

PLoS One. 2012;7(6):e37423. doi: 10.1371/journal.pone.0037423. Epub 2012 Jun 11.

19.

Lessons from whole-exome sequencing in MODYX families.

Dusatkova P, Fang M, Pruhova S, Gjesing AP, Cinek O, Hansen T, Pedersen OB, Xu X, Lebl J.

Diabetes Res Clin Pract. 2014 Jun;104(3):e72-4. doi: 10.1016/j.diabres.2014.03.008. Epub 2014 Mar 19.

PMID:
24698406
20.

Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients.

Lim EC, Brett M, Lai AH, Lee SP, Tan ES, Jamuar SS, Ng IS, Tan EC.

Hum Genomics. 2015 Dec 14;9:33. doi: 10.1186/s40246-015-0055-x.

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