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Items: 37

1.

Xq27.1 Duplication Encompassing SOX3: Variable Phenotype and Smallest Duplication Associated with Hypopituitarism to Date - A Large Case Series of Unrelated Patients and a Literature Review.

Arya VB, Chawla G, Nambisan AKR, Muhi-Iddin N, Vamvakiti E, Ajzensztejn M, Hulse T, Ferreira Pinto C, Lahiri N, Bint S, Buchanan CR, Kapoor RR.

Horm Res Paediatr. 2019 Nov 1:1-8. doi: 10.1159/000503784. [Epub ahead of print]

PMID:
31678974
2.

Hyperinsulinaemic hypoglycaemia in deoxyguanosine kinase deficiency.

Arya VB, Dhawan A, Kapoor RR.

Clin Endocrinol (Oxf). 2019 Dec;91(6):900-903. doi: 10.1111/cen.14084. Epub 2019 Sep 11. No abstract available.

PMID:
31465631
3.

Exceptional diazoxide sensitivity in hyperinsulinaemic hypoglycaemia due to a novel HNF4A mutation.

Arya VB, Kalitsi J, Hickey A, Flanagan SE, Kapoor RR.

Endocrinol Diabetes Metab Case Rep. 2019 May 16;2019. pii: EDM190013. doi: 10.1530/EDM-19-0013. [Epub ahead of print]

4.

Transient neonatal hyperinsulinaemic hypoglycaemia: perinatal predictors of length and cost of stay.

Kozen K, Dassios T, Kametas N, Kapoor RR, Greenough A.

Eur J Pediatr. 2018 Dec;177(12):1823-1829. doi: 10.1007/s00431-018-3242-7. Epub 2018 Sep 19.

PMID:
30232594
5.

Os odontoideum in wolcott-rallison syndrome: a case series of 4 patients.

Dias RP, Buchanan CR, Thomas N, Lim S, Solanki G, Connor SE, Barrett TG, Kapoor RR.

Orphanet J Rare Dis. 2016 Feb 10;11:14. doi: 10.1186/s13023-016-0397-z.

6.

Clinical and molecular characterisation of hyperinsulinaemic hypoglycaemia in infants born small-for-gestational age.

Arya VB, Flanagan SE, Kumaran A, Shield JP, Ellard S, Hussain K, Kapoor RR.

Arch Dis Child Fetal Neonatal Ed. 2013 Jul;98(4):F356-8. doi: 10.1136/archdischild-2012-302880. Epub 2013 Jan 29.

7.

Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.

Kapoor RR, Flanagan SE, Arya VB, Shield JP, Ellard S, Hussain K.

Eur J Endocrinol. 2013 Mar 15;168(4):557-64. doi: 10.1530/EJE-12-0673. Print 2013 Apr.

8.

New-onset diabetes mellitus following pediatric liver transplantation.

Kapoor RR.

Pediatr Transplant. 2013 Feb;17(1):5-7. doi: 10.1111/petr.12016. Epub 2012 Nov 15. No abstract available.

PMID:
23157421
9.

Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase.

Heslegrave AJ, Kapoor RR, Eaton S, Chadefaux B, Akcay T, Simsek E, Flanagan SE, Ellard S, Hussain K.

Orphanet J Rare Dis. 2012 May 14;7:25. doi: 10.1186/1750-1172-7-25.

10.

The heterogeneity of focal forms of congenital hyperinsulinism.

Ismail D, Kapoor RR, Smith VV, Ashworth M, Blankenstein O, Pierro A, Flanagan SE, Ellard S, Hussain K.

J Clin Endocrinol Metab. 2012 Jan;97(1):E94-9. doi: 10.1210/jc.2011-1628. Epub 2011 Oct 26.

PMID:
22031516
11.

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.

Pediatr Diabetes. 2012 May;13(3):285-9. doi: 10.1111/j.1399-5448.2011.00821.x. Epub 2011 Oct 7.

PMID:
21978130
12.

Congenital hyperinsulinism: marked clinical heterogeneity in siblings with identical mutations in the ABCC8 gene.

Kapoor RR, Flanagan SE, Ellard S, Hussain K.

Clin Endocrinol (Oxf). 2012 Feb;76(2):312-3. doi: 10.1111/j.1365-2265.2011.04203.x. No abstract available.

PMID:
21851374
13.

Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations.

Kapoor RR, Flanagan SE, James CT, McKiernan J, Thomas AM, Harmer SC, Shield JP, Tinker A, Ellard S, Hussain K.

Diabetologia. 2011 Oct;54(10):2575-83. doi: 10.1007/s00125-011-2207-4. Epub 2011 Jun 15.

14.

Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees.

Flanagan SE, Patch AM, Locke JM, Akcay T, Simsek E, Alaei M, Yekta Z, Desai M, Kapoor RR, Hussain K, Ellard S.

J Clin Endocrinol Metab. 2011 Mar;96(3):E498-502. doi: 10.1210/jc.2010-1906. Epub 2011 Jan 20.

15.

Paternal Uniparental Isodisomy of Chromosome 11p15.5 within the Pancreas Causes Isolated Hyperinsulinemic Hypoglycemia.

Flanagan SE, Kapoor RR, Smith VV, Hussain K, Ellard S.

Front Endocrinol (Lausanne). 2011 Nov 2;2:66. doi: 10.3389/fendo.2011.00066. eCollection 2011.

16.

Genetics of congenital hyperinsulinemic hypoglycemia.

Flanagan SE, Kapoor RR, Hussain K.

Semin Pediatr Surg. 2011 Feb;20(1):13-7. doi: 10.1053/j.sempedsurg.2010.10.004. Review.

PMID:
21185998
17.

The clinical problem of hyperinsulinemic hypoglycemia and resultant infantile spasms.

Kumaran A, Kar S, Kapoor RR, Hussain K.

Pediatrics. 2010 Nov;126(5):e1231-6. doi: 10.1542/peds.2009-2775. Epub 2010 Oct 18.

PMID:
20956428
18.

Congenital hyperinsulinism due to mutations in HNF4A and HADH.

Kapoor RR, Heslegrave A, Hussain K.

Rev Endocr Metab Disord. 2010 Sep;11(3):185-91. doi: 10.1007/s11154-010-9148-y. Review.

PMID:
20931292
19.

Focal congenital hyperinsulinism in a patient with septo-optic dysplasia.

Padidela R, Kapoor RR, Moyo Y, Gilbert C, Flanagan SE, Ellard S, Hussain K.

Nat Rev Endocrinol. 2010 Nov;6(11):646-50. doi: 10.1038/nrendo.2010.153. Epub 2010 Sep 14.

PMID:
20842182
20.

Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia.

Flanagan SE, Kapoor RR, Banerjee I, Hall C, Smith VV, Hussain K, Ellard S.

Clin Genet. 2011 Jun;79(6):582-7. doi: 10.1111/j.1399-0004.2010.01476.x.

21.

KCNJ11 activating mutation in an Indian family with remitting and relapsing diabetes.

Khadilkar VV, Khadilkar AV, Kapoor RR, Hussain K, Hattersley AT, Ellard S.

Indian J Pediatr. 2010 May;77(5):551-4. doi: 10.1007/s12098-010-0062-9. Epub 2010 Apr 17.

PMID:
20401705
22.

Congenital hyperinsulinism due to a compound heterozygous ABCC8 mutation with spontaneous resolution at eight weeks.

Kumaran A, Kapoor RR, Flanagan SE, Ellard S, Hussain K.

Horm Res Paediatr. 2010;73(4):287-92. doi: 10.1159/000284394. Epub 2010 Mar 9.

PMID:
20215776
23.

Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations.

Flanagan SE, Kapoor RR, Mali G, Cody D, Murphy N, Schwahn B, Siahanidou T, Banerjee I, Akcay T, Rubio-Cabezas O, Shield JP, Hussain K, Ellard S.

Eur J Endocrinol. 2010 May;162(5):987-92. doi: 10.1530/EJE-09-0861. Epub 2010 Feb 17.

24.

Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism.

Shimomura K, Flanagan SE, Zadek B, Lethby M, Zubcevic L, Girard CA, Petz O, Mannikko R, Kapoor RR, Hussain K, Skae M, Clayton P, Hattersley A, Ellard S, Ashcroft FM.

EMBO Mol Med. 2009 Jun;1(3):166-77. doi: 10.1002/emmm.200900018.

25.

Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations.

Kapoor RR, Flanagan SE, Fulton P, Chakrapani A, Chadefaux B, Ben-Omran T, Banerjee I, Shield JP, Ellard S, Hussain K.

Eur J Endocrinol. 2009 Nov;161(5):731-5. doi: 10.1530/EJE-09-0615. Epub 2009 Aug 18.

26.

3-Hydroxyacyl-coenzyme A dehydrogenase deficiency and hyperinsulinemic hypoglycemia: characterization of a novel mutation and severe dietary protein sensitivity.

Kapoor RR, James C, Flanagan SE, Ellard S, Eaton S, Hussain K.

J Clin Endocrinol Metab. 2009 Jul;94(7):2221-5. doi: 10.1210/jc.2009-0423. Epub 2009 May 5.

PMID:
19417036
27.

Hyperinsulinism in developmental syndromes.

Kapoor RR, James C, Hussain K.

Endocr Dev. 2009;14:95-113. doi: 10.1159/000207480. Epub 2009 Feb 27. Review.

PMID:
19293578
28.

The genetic basis of congenital hyperinsulinism.

James C, Kapoor RR, Ismail D, Hussain K.

J Med Genet. 2009 May;46(5):289-99. doi: 10.1136/jmg.2008.064337. Epub 2009 Mar 1. Review.

PMID:
19254908
29.

Hyperinsulinaemic hypoglycaemia.

Kapoor RR, Flanagan SE, James C, Shield J, Ellard S, Hussain K.

Arch Dis Child. 2009 Jun;94(6):450-7. doi: 10.1136/adc.2008.148171. Epub 2009 Feb 4. Review.

PMID:
19193661
30.

Diabetes mellitus, exocrine pancreatic deficiency, hypertrichosis, hyperpigmentation, and chronic inflammation: confirmation of a syndrome.

Hussain K, Padidela R, Kapoor RR, James C, Banerjee K, Harper J, Wilson LC, Hennekam RC.

Pediatr Diabetes. 2009 May;10(3):193-7. doi: 10.1111/j.1399-5448.2008.00470.x. Epub 2008 Oct 22.

PMID:
19175903
31.

Advances in the diagnosis and management of hyperinsulinemic hypoglycemia.

Kapoor RR, James C, Hussain K.

Nat Clin Pract Endocrinol Metab. 2009 Feb;5(2):101-12. doi: 10.1038/ncpendmet1046. Review. Erratum in: Nat Clin Pract Endocrinol Metab. 2009 Mar;5(3):180.

PMID:
19165222
32.

Congenital hyperinsulinism: [F]DOPA PET/CT scan of a focal lesion in the head of the pancreas.

Kapoor RR, Gilbert C, Mohnike K, Blankenstein O, Fuechtner F, Hussain K.

BMJ Case Rep. 2009;2009:bcr2007121178. doi: 10.1136/bcr.2007.121178. Epub 2009 Feb 16. No abstract available.

33.

Congenital hyperinsulinism: [18F]DOPA PET/CT scan of a focal lesion in the head of the pancreas.

Kapoor RR, Gilbert C, Mohnike K, Blankenstein O, Fuechtner F, Hussain K.

Arch Dis Child Fetal Neonatal Ed. 2008 Mar;93(2):F166. doi: 10.1136/adc.2007.121178. No abstract available.

PMID:
18296575
34.

Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations.

Kapoor RR, Locke J, Colclough K, Wales J, Conn JJ, Hattersley AT, Ellard S, Hussain K.

Diabetes. 2008 Jun;57(6):1659-63. doi: 10.2337/db07-1657. Epub 2008 Feb 11.

35.

Insulin mutation screening in 1,044 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.

Edghill EL, Flanagan SE, Patch AM, Boustred C, Parrish A, Shields B, Shepherd MH, Hussain K, Kapoor RR, Malecki M, MacDonald MJ, St√ły J, Steiner DF, Philipson LH, Bell GI; Neonatal Diabetes International Collaborative Group, Hattersley AT, Ellard S.

Diabetes. 2008 Apr;57(4):1034-42. Epub 2007 Dec 27.

36.

Monitoring of concordance in growth hormone therapy.

Kapoor RR, Burke SA, Sparrow SE, Hughes IA, Dunger DB, Ong KK, Acerini CL.

Arch Dis Child. 2008 Feb;93(2):147-8. Epub 2007 Sep 3.

PMID:
17768149
37.

Measuring the impact of diagnostic decision support on the quality of clinical decision making: development of a reliable and valid composite score.

Ramnarayan P, Kapoor RR, Coren M, Nanduri V, Tomlinson AL, Taylor PM, Wyatt JC, Britto JF.

J Am Med Inform Assoc. 2003 Nov-Dec;10(6):563-72. Epub 2003 Aug 4.

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