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Items: 1 to 50 of 187

1.

Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389.

Yau D, Laver TW, Dastamani A, Senniappan S, Houghton JAL, Shaikh G, Cheetham T, Mushtaq T, Kapoor RR, Randell T, Ellard S, Shah P, Banerjee I, Flanagan SE.

PLoS One. 2020 Feb 6;15(2):e0228417. doi: 10.1371/journal.pone.0228417. eCollection 2020.

2.

Update of variants identified in the pancreatic β-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.

De Franco E, Saint-Martin C, Brusgaard K, Knight Johnson AE, Aguilar-Bryan L, Bowman P, Arnoux JB, Larsen AR, May S, Greeley SAW, Calzada-León R, Harman B, Houghton JAL, Nishimura-Meguro E, Laver TW, Ellard S, Del Gaudio D, Christesen HT, Bellanné-Chantelot C, Flanagan SE.

Hum Mutat. 2020 Feb 6. doi: 10.1002/humu.23995. [Epub ahead of print]

PMID:
32027066
3.

Heterozygous Insulin Receptor (INSR) Mutation associated with Neonatal Hyperinsulinemic Hypoglycaemia and Familial Diabetes Mellitus: Case Series

Sethi A, Foulds N, Ehtisham S, Ahmed SH, Houghton J, Colclough K, Didi M, Flanagan SE, Senniappan S.

J Clin Res Pediatr Endocrinol. 2020 Jan 28. doi: 10.4274/jcrpe.galenos.2019.2019.0106. [Epub ahead of print]

4.

Patterns of postmeal insulin secretion in individuals with sulfonylurea-treated KCNJ11 neonatal diabetes show predominance of non-KATP-channel pathways.

Bowman P, McDonald TJ, Knight BA, Flanagan SE, Leveridge M, Spaull SR, Shields BM, Hammersley S, Shepherd MH, Andrews RC, Patel KA, Hattersley AT.

BMJ Open Diabetes Res Care. 2019 Dec 18;7(1):e000721. doi: 10.1136/bmjdrc-2019-000721. eCollection 2019.

5.

De Novo Mutations in EIF2B1 Affecting eIF2 Signaling Cause Neonatal/Early-Onset Diabetes and Transient Hepatic Dysfunction.

De Franco E, Caswell R, Johnson MB, Wakeling MN, Zung A, Dũng VC, Bích Ngọc CT, Goonetilleke R, Vivanco Jury M, El-Khateeb M, Ellard S, Flanagan SE, Ron D, Hattersley AT.

Diabetes. 2020 Mar;69(3):477-483. doi: 10.2337/db19-1029. Epub 2019 Dec 27.

PMID:
31882561
6.

Unravelling the genetic causes of mosaic islet morphology in congenital hyperinsulinism.

Houghton JA, Banerjee I, Shaikh G, Jabbar S, Laver TW, Cheesman E, Chinnoy A, Yau D, Salomon-Estebanez M, Dunne MJ, Flanagan SE.

J Pathol Clin Res. 2020 Jan;6(1):12-16. doi: 10.1002/cjp2.144. Epub 2019 Oct 29.

7.

Congenital Hyperinsulinemic Hypoglycemia and Hyperammonemia due to Pathogenic Variants in GLUD1.

Roy K, Satapathy AK, Houhton JAL, Flanagan SE, Radha V, Mohan V, Sharma R, Jain V.

Indian J Pediatr. 2019 Nov;86(11):1051-1053. doi: 10.1007/s12098-019-02980-x. Epub 2019 May 22.

PMID:
31119523
8.

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]

9.

A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development.

De Franco E, Watson RA, Weninger WJ, Wong CC, Flanagan SE, Caswell R, Green A, Tudor C, Lelliott CJ, Geyer SH, Maurer-Gesek B, Reissig LF, Lango Allen H, Caliebe A, Siebert R, Holterhus PM, Deeb A, Prin F, Hilbrands R, Heimberg H, Ellard S, Hattersley AT, Barroso I.

Am J Hum Genet. 2019 May 2;104(5):985-989. doi: 10.1016/j.ajhg.2019.03.018. Epub 2019 Apr 18.

10.

Trisomy 21 Is a Cause of Permanent Neonatal Diabetes That Is Autoimmune but Not HLA Associated.

Johnson MB, De Franco E, Greeley SAW, Letourneau LR, Gillespie KM; International DS-PNDM Consortium, Wakeling MN, Ellard S, Flanagan SE, Patel KA, Hattersley AT.

Diabetes. 2019 Jul;68(7):1528-1535. doi: 10.2337/db19-0045. Epub 2019 Apr 8.

11.

Genetic Mechanisms Highlight Shared Pathways for the Pathogenesis of Polygenic Type 1 Diabetes and Monogenic Autoimmune Diabetes.

Johnson MB, Cerosaletti K, Flanagan SE, Buckner JH.

Curr Diab Rep. 2019 Mar 19;19(5):20. doi: 10.1007/s11892-019-1141-6. Review.

12.

Hyperinsulinaemic hypoglycaemia: A new presentation of 16p11.2 deletion syndrome.

Kostopoulou E, Dastamani A, Caiulo S, Antell H, Flanagan SE, Shah P.

Clin Endocrinol (Oxf). 2019 May;90(5):766-769. doi: 10.1111/cen.13951. Epub 2019 Mar 7. No abstract available.

PMID:
30776145
13.

Partial diazoxide responsiveness in a neonate with hyperinsulinism due to homozygous ABCC8 mutation.

Kiff S, Babb C, Guemes M, Dastamani A, Gilbert C, Flanagan SE, Ellard S, Barton J, Dattani M, Shah P.

Endocrinol Diabetes Metab Case Rep. 2019 Feb 11;2019. pii: EDM180120. doi: 10.1530/EDM-18-0120. [Epub ahead of print]

14.

A rare case of congenital hyperinsulinism (CHI) due to dual genetic aetiology involving HNF4A and ABCC8.

Apperley L, Giri D, Houghton JAL, Flanagan SE, Didi M, Senniappan S.

J Pediatr Endocrinol Metab. 2019 Mar 26;32(3):301-304. doi: 10.1515/jpem-2018-0389.

PMID:
30730840
15.

Future Roadmaps for Precision Medicine Applied to Diabetes: Rising to the Challenge of Heterogeneity.

Bowman P, Flanagan SE, Hattersley AT.

J Diabetes Res. 2018 Nov 27;2018:3061620. doi: 10.1155/2018/3061620. eCollection 2018. Review.

16.

Correction: Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease.

Wakeling MN, Laver TW, Wright CF, De Franco E, Stals KL, Patch AM, Hattersley AT, Flanagan SE, Ellard S; DDD Study.

Genet Med. 2019 Mar;21(3):766. doi: 10.1038/s41436-018-0357-1.

17.

Cognitive, Neurological, and Behavioral Features in Adults With KCNJ11 Neonatal Diabetes.

Bowman P, Day J, Torrens L, Shepherd MH, Knight BA, Ford TJ, Flanagan SE, Chakera A, Hattersley AT, Zeman A.

Diabetes Care. 2019 Feb;42(2):215-224. doi: 10.2337/dc18-1060. Epub 2018 Oct 30.

18.

Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease.

Wakeling MN, Laver TW, Wright CF, De Franco E, Stals KL, Patch AM, Hattersley AT, Flanagan SE, Ellard S; DDD Study.

Genet Med. 2019 Apr;21(4):982-986. doi: 10.1038/s41436-018-0281-4. Epub 2018 Oct 3. Erratum in: Genet Med. 2018 Nov 16;:.

19.

Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia.

Laver TW, Wakeling MN, Hua JHY, Houghton JAL, Hussain K, Ellard S, Flanagan SE.

Clin Endocrinol (Oxf). 2018 Nov;89(5):621-627. doi: 10.1111/cen.13841. Epub 2018 Sep 20.

20.

PLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy.

Laver TW, Patel KA, Colclough K, Curran J, Dale J, Davis N, Savage DB, Flanagan SE, Ellard S, Hattersley AT, Weedon MN.

J Clin Endocrinol Metab. 2018 Sep 1;103(9):3225-3230. doi: 10.1210/jc.2017-02662.

21.

Diazoxide toxicity in a child with persistent hyperinsulinemic hypoglycemia of infancy: mixed hyperglycemic hyperosmolar coma and ketoacidosis.

Mangla P, Hussain K, Ellard S, Flanagan SE, Bhatia V.

J Pediatr Endocrinol Metab. 2018 Aug 28;31(8):943-945. doi: 10.1515/jpem-2018-0112.

PMID:
29958183
22.

Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study.

Bowman P, Sulen Å, Barbetti F, Beltrand J, Svalastoga P, Codner E, Tessmann EH, Juliusson PB, Skrivarhaug T, Pearson ER, Flanagan SE, Babiker T, Thomas NJ, Shepherd MH, Ellard S, Klimes I, Szopa M, Polak M, Iafusco D, Hattersley AT, Njølstad PR; Neonatal Diabetes International Collaborative Group.

Lancet Diabetes Endocrinol. 2018 Aug;6(8):637-646. doi: 10.1016/S2213-8587(18)30106-2. Epub 2018 Jun 4. Erratum in: Lancet Diabetes Endocrinol. 2018 Sep;6(9):e17.

23.

Congenital Hyperinsulinism and Evolution to Sulfonylurearesponsive Diabetes Later in Life due to a Novel Homozygous p.L171F ABCC8 Mutation

Işık E, Demirbilek H, Houghton JA, Ellard S, Flanagan SE, Hussain K.

J Clin Res Pediatr Endocrinol. 2019 Feb 20;11(1):82-87. doi: 10.4274/jcrpe.galenos.2018.2018.0077. Epub 2018 Mar 29.

24.

Focal Congenital Hyperinsulinism as a Cause for Sudden Infant Death.

Chinoy A, Banerjee I, Flanagan SE, Ellard S, Han B, Mohamed Z, Dunne MJ, Bitetti S.

Pediatr Dev Pathol. 2019 Jan-Feb;22(1):65-69. doi: 10.1177/1093526618765376. Epub 2018 Mar 20.

PMID:
29558846
25.

Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1.

Demirbilek H, Hatipoglu N, Gul U, Tatli ZU, Ellard S, Flanagan SE, De Franco E, Kurtoglu S.

Pediatr Diabetes. 2018 Aug;19(5):898-904. doi: 10.1111/pedi.12669. Epub 2018 Mar 27.

PMID:
29521454
26.

Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome.

Habeb AM, Flanagan SE, Zulali MA, Abdullah MA, Pomahačová R, Boyadzhiev V, Colindres LE, Godoy GV, Vasanthi T, Al Saif R, Setoodeh A, Haghighi A, Haghighi A, Shaalan Y; International Neonatal Diabetes Consortium, Hattersley AT, Ellard S, De Franco E.

Diabetologia. 2018 May;61(5):1027-1036. doi: 10.1007/s00125-018-4554-x. Epub 2018 Feb 15.

27.

A type 1 diabetes genetic risk score can discriminate monogenic autoimmunity with diabetes from early-onset clustering of polygenic autoimmunity with diabetes.

Johnson MB, Patel KA, De Franco E, Houghton JAL, McDonald TJ, Ellard S, Flanagan SE, Hattersley AT.

Diabetologia. 2018 Apr;61(4):862-869. doi: 10.1007/s00125-018-4551-0. Epub 2018 Feb 7.

28.

MAFA missense mutation causes familial insulinomatosis and diabetes mellitus.

Iacovazzo D, Flanagan SE, Walker E, Quezado R, de Sousa Barros FA, Caswell R, Johnson MB, Wakeling M, Brändle M, Guo M, Dang MN, Gabrovska P, Niederle B, Christ E, Jenni S, Sipos B, Nieser M, Frilling A, Dhatariya K, Chanson P, de Herder WW, Konukiewitz B, Klöppel G, Stein R, Korbonits M, Ellard S.

Proc Natl Acad Sci U S A. 2018 Jan 30;115(5):1027-1032. doi: 10.1073/pnas.1712262115. Epub 2018 Jan 16.

29.

Erratum. Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes. Diabetes 2017;66:2316-2322.

Johnson MB, De Franco E, Lango Allen H, Al Senani A, Elbarbary N, Siklar Z, Berberoglu M, Imane Z, Haghighi A, Razavi Z, Ullah I, Alyaarubi S, Gardner D, Ellard S, Hattersley AT, Flanagan SE.

Diabetes. 2018 Mar;67(3):532. doi: 10.2337/db18-er03b. Epub 2018 Jan 5. No abstract available.

30.

Sirolimus-Induced Hepatitis in Two Patients with Hyperinsulinemic Hypoglycemia

Haliloğlu B, Tüzün H, Flanagan SE, Çelik M, Kaya A, Ellard S, Özbek MN.

J Clin Res Pediatr Endocrinol. 2018 Jul 31;10(3):279-283. doi: 10.4274/jcrpe.5335. Epub 2017 Dec 8.

31.

Monogenic Diabetes Not Caused By Mutations in Mody Genes: A Very Heterogenous Group of Diabetes.

Şıklar Z, de Franco E, Johnson MB, Flanagan SE, Ellard S, Ceylaner S, Boztuğ K, Doğu F, İkincioğulları A, Kuloğlu Z, Kansu A, Berberoğlu M.

Exp Clin Endocrinol Diabetes. 2018 Nov;126(10):612-618. doi: 10.1055/s-0043-120571. Epub 2017 Nov 28.

PMID:
29183106
32.

Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance.

Patel KA, Kettunen J, Laakso M, Stančáková A, Laver TW, Colclough K, Johnson MB, Abramowicz M, Groop L, Miettinen PJ, Shepherd MH, Flanagan SE, Ellard S, Inagaki N, Hattersley AT, Tuomi T, Cnop M, Weedon MN.

Nat Commun. 2017 Oct 12;8(1):888. doi: 10.1038/s41467-017-00895-9.

33.

Screening for neonatal diabetes at day 5 of life using dried blood spot glucose measurement.

McDonald TJ, Besser RE, Perry M, Babiker T, Knight BA, Shepherd MH, Ellard S, Flanagan SE, Hattersley AT.

Diabetologia. 2017 Nov;60(11):2168-2173. doi: 10.1007/s00125-017-4383-3. Epub 2017 Aug 5.

34.

Analysis of large-scale sequencing cohorts does not support the role of variants in UCP2 as a cause of hyperinsulinaemic hypoglycaemia.

Laver TW, Weedon MN, Caswell R, Hussain K, Ellard S, Flanagan SE.

Hum Mutat. 2017 Oct;38(10):1442-1444. doi: 10.1002/humu.23289. Epub 2017 Aug 1. No abstract available.

35.

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.

J Clin Res Pediatr Endocrinol. 2017 Sep 1;9(3):260-264. doi: 10.4274/jcrpe.4624. Epub 2017 Jun 30.

36.

Neuropsychological impairments in children with KCNJ11 neonatal diabetes.

Bowman P, Hattersley AT, Knight BA, Broadbridge E, Pettit L, Reville M, Flanagan SE, Shepherd MH, Ford TJ, Tonks J.

Diabet Med. 2017 Aug;34(8):1171-1173. doi: 10.1111/dme.13375. No abstract available.

PMID:
28477417
37.

Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes.

Johnson MB, De Franco E, Lango Allen H, Al Senani A, Elbarbary N, Siklar Z, Berberoglu M, Imane Z, Haghighi A, Razavi Z, Ullah I, Alyaarubi S, Gardner D, Ellard S, Hattersley AT, Flanagan SE.

Diabetes. 2017 Aug;66(8):2316-2322. doi: 10.2337/db17-0040. Epub 2017 May 4. Erratum in: Diabetes. 2018 Jan 5;:.

38.

Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts.

De Franco E, Flanagan SE, Yagi T, Abreu D, Mahadevan J, Johnson MB, Jones G, Acosta F, Mulaudzi M, Lek N, Oh V, Petz O, Caswell R, Ellard S, Urano F, Hattersley AT.

Diabetes. 2017 Jul;66(7):2044-2053. doi: 10.2337/db16-1296. Epub 2017 May 3.

39.

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

Cabezas OR, Flanagan SE, Stanescu H, García-Martínez E, Caswell R, Lango-Allen H, Antón-Gamero M, Argente J, Bussell AM, Brandli A, Cheshire C, Crowne E, Dumitriu S, Drynda R, Hamilton-Shield JP, Hayes W, Hofherr A, Iancu D, Issler N, Jefferies C, Jones P, Johnson M, Kesselheim A, Klootwijk E, Koettgen M, Lewis W, Martos JM, Mozere M, Norman J, Patel V, Parrish A, Pérez-Cerdá C, Pozo J, Rahman SA, Sebire N, Tekman M, Turnpenny PD, Hoff WV, Viering DHHM, Weedon MN, Wilson P, Guay-Woodford L, Kleta R, Hussain K, Ellard S, Bockenhauer D.

J Am Soc Nephrol. 2017 Aug;28(8):2529-2539. doi: 10.1681/ASN.2016121312. Epub 2017 Apr 3.

40.

Clinical presentation and treatment response to diazoxide in two siblings with congenital hyperinsulinism as a result of a novel compound heterozygous ABCC8 missense mutation.

Galcheva S, Iotova V, Ellard S, Flanagan SE, Halvadzhiyan I, Petrova C, Hussain K.

J Pediatr Endocrinol Metab. 2017 Apr 1;30(4):471-474. doi: 10.1515/jpem-2016-0345.

PMID:
28328534
41.

A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia.

Flanagan SE, Vairo F, Johnson MB, Caswell R, Laver TW, Lango Allen H, Hussain K, Ellard S.

Pediatr Diabetes. 2017 Jun;18(4):320-323. doi: 10.1111/pedi.12512. Epub 2017 Mar 20.

42.

Hyperglycaemia-related complications at the time of diagnosis can cause permanent neurological disability in children with neonatal diabetes.

Day JO, Flanagan SE, Shepherd MH, Patrick AW, Abid N, Torrens L, Zeman AJ, Patel KA, Hattersley AT.

Diabet Med. 2017 Jul;34(7):1000-1004. doi: 10.1111/dme.13328.

43.

Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus.

Yau D, De Franco E, Flanagan SE, Ellard S, Blumenkrantz M, Mitchell JJ.

Diagn Pathol. 2017 Jan 3;12(1):1. doi: 10.1186/s13000-016-0592-1.

44.

Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time.

Salomon-Estebanez M, Flanagan SE, Ellard S, Rigby L, Bowden L, Mohamed Z, Nicholson J, Skae M, Hall C, Craigie R, Padidela R, Murphy N, Randell T, Cosgrove KE, Dunne MJ, Banerjee I.

Orphanet J Rare Dis. 2016 Dec 1;11(1):163.

45.

Low IgE Is a Useful Tool to Identify STAT3 Gain-of-Function Mutations.

Johnson MB, Flanagan SE, Martins TB, Hill HR, Hattersley AT, McDonald TJ.

Clin Chem. 2016 Nov;62(11):1536-1538. Epub 2016 Sep 8. No abstract available.

PMID:
27608644
46.

Hyperinsulinemic Hypoglycemia of Infancy due to Novel HADH Mutation in Two Siblings.

Satapathy AK, Jain V, Ellard S, Flanagan SE.

Indian Pediatr. 2016 Oct 8;53(10):912-913.

47.

Prematurity and Genetic Testing for Neonatal Diabetes.

Besser RE, Flanagan SE, Mackay DG, Temple IK, Shepherd MH, Shields BM, Ellard S, Hattersley AT.

Pediatrics. 2016 Sep;138(3). pii: e20153926. doi: 10.1542/peds.2015-3926. Epub 2016 Aug 18.

48.

Monogenic autoimmune diseases of the endocrine system.

Johnson MB, Hattersley AT, Flanagan SE.

Lancet Diabetes Endocrinol. 2016 Oct;4(10):862-72. doi: 10.1016/S2213-8587(16)30095-X. Epub 2016 Jul 26. Review.

PMID:
27474216
49.

Clinical and genetic features of Argentinian children with diabetes-onset before 12months of age: Successful transfer from insulin to oral sulfonylurea.

Taberner P, Flanagan SE, Mackay DJ, Ellard S, Taverna MJ, Ferraro M.

Diabetes Res Clin Pract. 2016 Jul;117:104-10. doi: 10.1016/j.diabres.2016.04.005. Epub 2016 Apr 26.

PMID:
27329029
50.

Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation.

Houghton JA, Swift GH, Shaw-Smith C, Flanagan SE, de Franco E, Caswell R, Hussain K, Mohamed S, Abdulrasoul M, Hattersley AT, MacDonald RJ, Ellard S.

Diabetes. 2016 Sep;65(9):2810-5. doi: 10.2337/db15-1666. Epub 2016 Jun 9.

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