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Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.
Am J Hum Genet. 2013 Jan 10;92(1):131-6. doi: 10.1016/j.ajhg.2012.11.017. Epub 2012 Dec 27.
Am J Hum Genet. 2013.
PMID: 23273570
Free PMC article.
Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemia.
Flanagan S, Damhuis A, Banerjee I, Rokicki D, Jefferies C, Kapoor R, Hussain K, Ellard S.
Flanagan S, et al. Among authors: damhuis a.
Pediatr Diabetes. 2012 May;13(3):285-9. doi: 10.1111/j.1399-5448.2011.00821.x. Epub 2011 Oct 7.
Pediatr Diabetes. 2012.
PMID: 21978130
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KATP channel mutations in infants with permanent diabetes diagnosed after 6 months of life.
Rubio-Cabezas O, Flanagan SE, Damhuis A, Hattersley AT, Ellard S.
Rubio-Cabezas O, et al. Among authors: damhuis a.
Pediatr Diabetes. 2012 Jun;13(4):322-5. doi: 10.1111/j.1399-5448.2011.00824.x. Epub 2011 Oct 10.
Pediatr Diabetes. 2012.
PMID: 21981029
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An ABCC8 Nonsense Mutation Causing Neonatal Diabetes Through Altered Transcript Expression.
Flanagan SE, Dũng VC, Houghton JAL, De Franco E, Ngoc CTB, Damhuis A, Ashcroft FM, Harries LW, Ellard S.
Flanagan SE, et al. Among authors: damhuis a.
J Clin Res Pediatr Endocrinol. 2017 Sep 1;9(3):260-264. doi: 10.4274/jcrpe.4624. Epub 2017 Jun 30.
J Clin Res Pediatr Endocrinol. 2017.
PMID: 28663158
Free PMC article.
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Heterozygous ABCC8 mutations are a cause of MODY.
Bowman P, Flanagan SE, Edghill EL, Damhuis A, Shepherd MH, Paisey R, Hattersley AT, Ellard S.
Bowman P, et al. Among authors: damhuis a.
Diabetologia. 2012 Jan;55(1):123-7. doi: 10.1007/s00125-011-2319-x. Epub 2011 Oct 12.
Diabetologia. 2012.
PMID: 21989597
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Assessment of psychosocial problems in children with type 1 diabetes and their families: the added value of using standardised questionnaires in addition to clinical estimations of nurses and paediatricians.
Boogerd EA, Damhuis AM, van Alfen-van der Velden JA, Steeghs MC, Noordam C, Verhaak CM, Vermaes IP.
Boogerd EA, et al. Among authors: damhuis am.
J Clin Nurs. 2015 Aug;24(15-16):2143-51. doi: 10.1111/jocn.12789. Epub 2015 Mar 9.
J Clin Nurs. 2015.
PMID: 25753358
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Factors associated with upper respiratory tract disease caused by feline herpesvirus, feline calicivirus, Chlamydophila felis and Bordetella bronchiseptica in cats: experience from 218 European catteries.
Helps CR, Lait P, Damhuis A, Björnehammar U, Bolta D, Brovida C, Chabanne L, Egberink H, Ferrand G, Fontbonne A, Pennisi MG, Gruffydd-Jones T, Gunn-Moore D, Hartmann K, Lutz H, Malandain E, Möstl K, Stengel C, Harbour DA, Graat EA.
Helps CR, et al. Among authors: damhuis a.
Vet Rec. 2005 May 21;156(21):669-73. doi: 10.1136/vr.156.21.669.
Vet Rec. 2005.
PMID: 15908495
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