Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene

por Zegre Amorim, Marta, Houghton, Jayne A. L., Carmo, Sara, Salva, Inês, Pita, Ana, Pereira-da-Silva, Luis
Publicado 2015

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

por Laver, Thomas W., Wakeling, Matthew N., Hua, Janet Hong Yeow, Houghton, Jayne A. L., Hussain, Khalid, Ellard, Sian, Flanagan, Sarah E.
Publicado 2018

Bringing precision medicine to the management of pregnancy in women with glucokinase-MODY: a study of diagnostic accuracy and feasibility of non-invasive prenatal testing

por Hughes, Alice E., Houghton, Jayne A. L., Bunce, Benjamin, Chakera, Ali J., Spyer, Gill, Shepherd, Maggie H., Flanagan, Sarah E., Hattersley, Andrew T.
Publicado 2023

Spectrum of neuro-developmental disorders in children with congenital hyperinsulinism due to activating mutations in GLUD1

por Aftab, Sommayya, Gubaeva, Diliara, Houghton, Jayne A L, Dastamani, Antonia, Sotiridou, Ellada, Gilbert, Clare, Flanagan, Sarah E, Tiulpakov, Anatoly, Melikyan, Maria, Shah, Pratik
Publicado 2022

Transient Neonatal Diabetes: An Etiologic Clue for the Adult Diabetologist

por Novak, Anela, Bowman, Pamela, Kraljevic, Ivana, Tripolski, Marija, Houghton, Jayne A.L., De Franco, Elisa, Shepherd, Maggie H., Skrabic, Veselin, Patel, Kashyap A.
Publicado 2020

Case Report: Extended Clinical Spectrum of the Neonatal Diabetes With Congenital Hypothyroidism Syndrome

por Splittstoesser, Vera, Vollbach, Heike, Plamper, Michaela, Garbe, Werner, De Franco, Elisa, Houghton, Jayne A. L., Dueker, Gesche, Ganschow, Rainer, Gohlke, Bettina, Schreiner, Felix
Publicado 2021

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

por Johnson, Matthew B., Patel, Kashyap A., De Franco, Elisa, Houghton, Jayne A. L., McDonald, Timothy J., Ellard, Sian, Flanagan, Sarah E., Hattersley, Andrew T.
Publicado 2018

Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11

por Hewat, Thomas I., Yau, Daphne, Jerome, Joseph C. S., Laver, Thomas W., Houghton, Jayne A. L., Shields, Beverley M., Flanagan, Sarah E., Patel, Kashyap A.
Publicado 2021

Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management

por Gϋemes, Maria, Rahman, Sofia Asim, Kapoor, Ritika R., Flanagan, Sarah, Houghton, Jayne A. L., Misra, Shivani, Oliver, Nick, Dattani, Mehul Tulsidas, Shah, Pratik
Publicado 2020

An ABCC8 Nonsense Mutation Causing Neonatal Diabetes Through Altered Transcript Expression

por Flanagan, Sarah E., Dũng, Vũ Chí, Houghton, Jayne A. L., De Franco, Elisa, Ngoc, Can Thi Bich, Damhuis, Annet, Ashcroft, Frances M., Harries, Lorna W., Ellard, Sian
Publicado 2017

Noninvasive Fetal Genotyping by Droplet Digital PCR to Identify Maternally Inherited Monogenic Diabetes Variants

por Caswell, Richard C., Snowsill, Tristan, Houghton, Jayne A.L., Chakera, Ali J., Shepherd, Maggie H., Laver, Thomas W., Knight, Bridget A., Wright, David, Hattersley, Andrew T., Ellard, Sian
Publicado 2020

Molecular Characterization and Management of Congenital Hyperinsulinism: A Tertiary Centre Experience

por Sharma, Rajni, Roy, Kakali, Satapathy, Amit Kumar, Kumar, Anil, Nanda, Pamali Mahasweta, Damle, Nishikant, Houghton, Jayne A. L., Flanagan, Sarah E., Radha, Venkatesan, Mohan, Viswanathan, Jain, Vandana
Publicado 2022

Hyperinsulinemic Hypoglycemia Diagnosed in Childhood Can Be Monogenic

por Hopkins, Jasmin J, Childs, Alexandra J, Houghton, Jayne A L, Hewat, Thomas I, Atapattu, Navoda, Johnson, Matthew B, Patel, Kashyap A, Laver, Thomas W, Flanagan, Sarah E
Publicado 2022

The value of in vitro studies in a case of neonatal diabetes with a novel Kir6.2-W68G mutation

por O'Connell, Susan M, Proks, Peter, Kramer, Holger, Mattis, Katia K, Sachse, Gregor, Joyce, Caroline, Houghton, Jayne A L, Ellard, Sian, Hattersley, Andrew T, Ashcroft, Frances M, O'Riordan, Stephen M P
Publicado 2015

Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation

por Houghton, Jayne A.L., Swift, Galvin H., Shaw-Smith, Charles, Flanagan, Sarah E., de Franco, Elisa, Caswell, Richard, Hussain, Khalid, Mohamed, Sarar, Abdulrasoul, Majedah, Hattersley, Andrew T., MacDonald, Raymond J., Ellard, Sian
Publicado 2016

Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-K(ATP) channel mutations

por Demirbilek, Huseyin, Arya, Ved Bhushan, Ozbek, Mehmet Nuri, Houghton, Jayne A L, Baran, Riza Taner, Akar, Melek, Tekes, Selahattin, Tuzun, Heybet, Mackay, Deborah J, Flanagan, Sarah E, Hattersley, Andrew T, Ellard, Sian, Hussain, Khalid
Publicado 2015

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

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

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

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

Variation in Glycemic Outcomes in Focal Forms of Congenital Hyperinsulinism—The UK Perspective

por Dastamani, Antonia, Yau, Daphne, Gilbert, Clare, Morgan, Kate, De Coppi, Paolo, Craigie, Ross J, Bomanji, Jamshed, Biassoni, Lorenzo, Sajjan, Rakesh, Flanagan, Sarah E, Houghton, Jayne A L, Senniappan, Senthil, Didi, Mohammed, Dunne, Mark J, Banerjee, Indraneel, Shah, Pratik
Publicado 2022

Analysis of Transcription Factors Key for Mouse Pancreatic Development Establishes NKX2-2 and MNX1 Mutations as Causes of Neonatal Diabetes in Man

por Flanagan, Sarah E., De Franco, Elisa, Lango Allen, Hana, Zerah, Michele, Abdul-Rasoul, Majedah M., Edge, Julie A., Stewart, Helen, Alamiri, Elham, Hussain, Khalid, Wallis, Sam, de Vries, Liat, Rubio-Cabezas, Oscar, Houghton, Jayne A.L., Edghill, Emma L., Patch, Ann-Marie, Ellard, Sian, Hattersley, Andrew T.
Publicado 2014