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Page 1
Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis.
Garin I, Edghill EL, Akerman I, Rubio-Cabezas O, Rica I, Locke JM, Maestro MA, Alshaikh A, Bundak R, del Castillo G, Deeb A, Deiss D, Fernandez JM, Godbole K, Hussain K, O'Connell M, Klupa T, Kolouskova S, Mohsin F, Perlman K, Sumnik Z, Rial JM, Ugarte E, Vasanthi T; Neonatal Diabetes International Group; Johnstone K, Flanagan SE, Martínez R, Castaño C, Patch AM, Fernández-Rebollo E, Raile K, Morgan N, Harries LW, Castaño L, Ellard S, Ferrer J, Perez de Nanclares G, Hattersley AT. Garin I, et al. Among authors: godbole k. Proc Natl Acad Sci U S A. 2010 Feb 16;107(7):3105-10. doi: 10.1073/pnas.0910533107. Epub 2010 Jan 28. Proc Natl Acad Sci U S A. 2010. PMID: 20133622 Free PMC article.
An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy.
Weedon MN, Ellard S, Prindle MJ, Caswell R, Lango Allen H, Oram R, Godbole K, Yajnik CS, Sbraccia P, Novelli G, Turnpenny P, McCann E, Goh KJ, Wang Y, Fulford J, McCulloch LJ, Savage DB, O'Rahilly S, Kos K, Loeb LA, Semple RK, Hattersley AT. Weedon MN, et al. Among authors: godbole k. Nat Genet. 2013 Aug;45(8):947-50. doi: 10.1038/ng.2670. Epub 2013 Jun 16. Nat Genet. 2013. PMID: 23770608 Free PMC article.
Fetal programming of type 2 diabetes: is sex important?
Yajnik CS, Godbole K, Otiv SR, Lubree HG. Yajnik CS, et al. Among authors: godbole k. Diabetes Care. 2007 Oct;30(10):2754-5. doi: 10.2337/dc07-1485. Diabetes Care. 2007. PMID: 17901535 No abstract available.
FERMT1 promoter mutations in patients with Kindler syndrome.
Has C, Chmel N, Levati L, Neri I, Sonnenwald T, Pigors M, Godbole K, Dudhbhate A, Bruckner-Tuderman L, Zambruno G, Castiglia D. Has C, et al. Among authors: godbole k. Clin Genet. 2015 Sep;88(3):248-54. doi: 10.1111/cge.12490. Epub 2014 Oct 7. Clin Genet. 2015. PMID: 25156791
Johanson-blizzard syndrome.
Godbole K, Maja S, Leena H, Martin Z. Godbole K, et al. Indian Pediatr. 2013 May 8;50(5):510-2. Indian Pediatr. 2013. PMID: 23778732 Free article.
Bartsocas-Papas syndrome.
Godbole K, Bhide V, Godbole G. Godbole K, et al. Among authors: godbole g. Indian Pediatr. 2008 Sep;45(9):780-2. Indian Pediatr. 2008. PMID: 18820389
35 results