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

by Ved Bhushan Arya, Jennifer Kalitsi, Ann Hickey, Sarah E Flanagan, Ritika R Kapoor
Published 2019-05-01

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

by Emregül Işık, Hüseyin Demirbilek, Jayne A. Houghton, Sian Ellard, Sarah E. Flanagan, Khalid Hussain
Published 2019-03-01

Paternal uniparental isodisomy of chromosome 11p15.5 within the pancreas causes isolated hyperinsulinaemic hypoglycaemia

by Sarah E Flanagan, Ritika R Kapoor, Virpi V. Smith, Khalid eHussain, Sian eEllard
Published 2011-11-01

Pancreatic endocrine and exocrine function in children following near-total pancreatectomy for diffuse congenital hyperinsulinism.

by Ved Bhushan Arya, Senthil Senniappan, Huseyin Demirbilek, Syeda Alam, Sarah E Flanagan, Sian Ellard, Khalid Hussain
Published 2014-01-01

Heterozygous Insulin Receptor <italic>(INSR)</italic> Mutation Associated with Neonatal Hyperinsulinemic Hypoglycaemia and Familial Diabetes Mellitus: Case Series

by Aashish Sethi, Nicola Foulds, Sarah Ehtisham, Syed Haris Ahmed, Jayne Houghton, Kevin Colclough, Mohammed Didi, Sarah E. Flanagan, Senthil Senniappan
Published 2020-12-01

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

by Sarah Kiff, Carolyn Babb, Maria Guemes, Antonia Dastamani, Clare Gilbert, Sarah E Flanagan, Sian Ellard, John Barton, M Dattani, Pratik Shah
Published 2019-02-01

Unravelling the genetic causes of mosaic islet morphology in congenital hyperinsulinism

by Jayne AL Houghton, Indraneel Banerjee, Guftar Shaikh, Shamila Jabbar, Thomas W Laver, Edmund Cheesman, Amish Chinnoy, Daphne Yau, Maria Salomon‐Estebanez, Mark J Dunne, Sarah E Flanagan
Published 2020-01-01

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.

by Daphne Yau, Thomas W Laver, Antonia Dastamani, Senthil Senniappan, Jayne A L Houghton, Guftar Shaikh, Tim Cheetham, Talat Mushtaq, Ritika R Kapoor, Tabitha Randell, Sian Ellard, Pratik Shah, Indraneel Banerjee, Sarah E Flanagan
Published 2020-01-01

Longitudinal Auxological recovery in a cohort of children with Hyperinsulinaemic Hypoglycaemia

by Chris Worth, Laila Al Hashmi, Daphne Yau, Maria Salomon-Estebanez, Diego Perez Ruiz, Caroline Hall, Elaine O’Shea, Helen Stokes, Peter Foster, Sarah E. Flanagan, Karen E Cosgrove, Mark J Dunne, Indraneel Banerjee
Published 2020-06-01

A Novel HNF4A Mutation Causing Three Phenotypic Forms of Glucose Dysregulation in a Family

by Suresh Chandran, Suresh Chandran, Suresh Chandran, Suresh Chandran, Victor Samuel Rajadurai, Victor Samuel Rajadurai, Victor Samuel Rajadurai, Victor Samuel Rajadurai, Wai Han Hoi, Sarah E. Flanagan, Khalid Hussain, Fabian Yap, Fabian Yap, Fabian Yap
Published 2020-06-01

Molecular Genetics, Clinical Characteristics, and Treatment Outcomes of KATP-Channel Neonatal Diabetes Mellitus in Vietnam National Children’s Hospital

by Can Thi Bich Ngoc, Tran Minh Dien, Elisa De Franco, Sian Ellard, Sian Ellard, Jayne A. L. Houghton, Nguyen Ngoc Lan, Bui Phuong Thao, Nguyen Ngoc Khanh, Sarah E. Flanagan, Maria E. Craig, Maria E. Craig, Vu Chi Dung
Published 2021-09-01

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

by Kashyap A. Patel, Jarno Kettunen, Markku Laakso, Alena Stančáková, Thomas W. Laver, Kevin Colclough, Matthew B. Johnson, Marc Abramowicz, Leif Groop, Päivi J. Miettinen, Maggie H. Shepherd, Sarah E. Flanagan, Sian Ellard, Nobuya Inagaki, Andrew T. Hattersley, Tiinamaija Tuomi, Miriam Cnop, Michael N. Weedon
Published 2017-10-01

Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome [version 2; peer review: 2 approved, 1 approved with reservations]

by Indraneel Banerjee, Senthil Senniappan, Thomas W. Laver, Richard Caswell, Martin Zenker, Klaus Mohnike, Tim Cheetham, Matthew N. Wakeling, Dunia Ismail, Belinda Lennerz, Miranda Splitt, Merih Berberoğlu, Susann Empting, Martin Wabitsch, Simone Pötzsch, Pratik Shah, Zeynep Siklar, Charles F. Verge, Michael N. Weedon, Sian Ellard, Khalid Hussain, Sarah E. Flanagan
Published 2020-08-01