Congenital Hyperinsulinism: Current Laboratory-Based Approaches to the Genetic Diagnosis of a Heterogeneous Disease

por Hewat, Thomas I., Johnson, Matthew B., Flanagan, Sarah E.
Publicado 2022

Comment on: Khurana et al. The Diagnosis of Neonatal Diabetes in a Mother at 25 Years of Age. Diabetes Care 2012;35:e59

por Chakera, Ali J., Flanagan, Sarah E., Ellard, Sian, Hattersley, Andrew T.
Publicado 2013

Clinical and Genetic Characteristics, Management and Long-Term Follow-Up of Turkish Patients with Congenital Hyperinsulinism

por Güven, Ayla, Cebeci, Ayşe Nurcan, Ellard, Sian, Flanagan, Sarah E.
Publicado 2016

Nifedipine in Congenital Hyperinsulinism- A Case Report

por Khawash, Papiya, Hussain, Khalid, Flanagan, Sarah E., Chatterjee, Sudip, Basak, Dhananjoy
Publicado 2015

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

por Johnson, Matthew B., Cerosaletti, Karen, Flanagan, Sarah E., Buckner, Jane H.
Publicado 2019

Two decades since the fetal insulin hypothesis: what have we learned from genetics?

por Hughes, Alice E., Hattersley, Andrew T., Flanagan, Sarah E., Freathy, Rachel M.
Publicado 2021

MNX1 mutations causing neonatal diabetes: Review of the literature and report of a case with extra‐pancreatic congenital defects presenting in severe diabetic ketoacidosis

por Aly, Hanan Hassan, De Franco, Elisa, Flanagan, Sarah E., Elhenawy, Yasmine I.
Publicado 2022

A Combination of Nifedipine and OctreotideTreatment in an HyperinsulinemicHypoglycemic Infant

por Durmaz, Erdem, Flanagan, Sarah E., Parlak, Mesut, Ellard, Sian, Akcurin, Sema, Bircan, İffet
Publicado 2014

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

por Arya, Ved Bhushan, Kalitsi, Jennifer, Hickey, Ann, Flanagan, Sarah E, Kapoor, Ritika R
Publicado 2019

Monogenic disease analysis establishes that fetal insulin accounts for half of human fetal growth

por Hughes, Alice E., De Franco, Elisa, Freathy, Rachel M., Flanagan, Sarah E., Hattersley, Andrew T.
Publicado 2023

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

por Işık, Emregül, Demirbilek, Hüseyin, Houghton, Jayne A., Ellard, Sian, Flanagan, Sarah E., Hussain, Khalid
Publicado 2019

Transient Neonatal Diabetes Mellitus in a Turkish Patient with Three Novel Homozygous Variants in the ZFP57 Gene

por Boyraz, Mehmet, Ulucan, Korkut, Taşkın, Necati, Akçay, Teoman, Flanagan, Sarah E., Mackay, Deborah J.G.
Publicado 2013

Neurogenin 3 is important but not essential for pancreatic islet development in humans

por Rubio-Cabezas, Oscar, Codner, Ethel, Flanagan, Sarah E., Gómez, José L., Ellard, Sian, Hattersley, Andrew T.
Publicado 2014

A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course

por Çamtosun, Emine, Flanagan, Sarah E., Ellard, Sian, Şıklar, Zeynep, Hussain, Khalid, Kocaay, Pınar, Berberoğlu, Merih
Publicado 2015

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

por Yau, Daphne, De Franco, Elisa, Flanagan, Sarah E., Ellard, Sian, Blumenkrantz, Miriam, Mitchell, John J.
Publicado 2017

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

por Chandran, Suresh, Rajadurai, Victor Samuel, Hoi, Wai Han, Flanagan, Sarah E., Hussain, Khalid, Yap, Fabian
Publicado 2020

GATA6 Mutations Cause a Broad Phenotypic Spectrum of Diabetes From Pancreatic Agenesis to Adult-Onset Diabetes Without Exocrine Insufficiency

por De Franco, Elisa, Shaw-Smith, Charles, Flanagan, Sarah E., Shepherd, Maggie H., Hattersley, Andrew T., Ellard, Sian
Publicado 2013

Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism

por Kapoor, Ritika R, Flanagan, Sarah E, Arya, Ved Bhushan, Shield, Julian P, Ellard, Sian, Hussain, Khalid
Publicado 2013

Pancreatic Endocrine and Exocrine Function in Children following Near-Total Pancreatectomy for Diffuse Congenital Hyperinsulinism

por Arya, Ved Bhushan, Senniappan, Senthil, Demirbilek, Huseyin, Alam, Syeda, Flanagan, Sarah E., Ellard, Sian, Hussain, Khalid
Publicado 2014

Sirolimus-Induced Hepatitis in Two Patients with Hyperinsulinemic Hypoglycemia

por Haliloğlu, Belma, Tüzün, Heybet, Flanagan, Sarah E., Çelik, Muhittin, Kaya, Avni, Ellard, Sian, Özbek, Mehmet Nuri
Publicado 2018