Diabetes Mellitus in Neonates and Infants: Genetic Heterogeneity, Clinical Approach to Diagnosis, and Therapeutic Options

por Rubio-Cabezas, Oscar, Ellard, Sian
Publicado 2013

Diazoxide-unresponsive congenital hyperinsulinism associated with ABCC8 nonsense mutation

por Hussain, Suhaimi, Ellard, Sian, Flanagan, Sarah
Publicado 2015

Syndromic monogenic diabetes genes should be tested in patients with a clinical suspicion of MODY

por Colclough, Kevin, Ellard, Sian, Hattersley, Andrew, Patel, Kashyap
Publicado 2022

Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene

por Gabbay, Monica, Ellard, Sian, De Franco, Elisa, Moisés, Regina S.
Publicado 2017

Wolcott-Rallison Syndrome Due to a Novel Mutation (R491X) in EIF2AK3 Gene

por Mıhçı, Ercan, Türkkahraman, Doğa, Ellard, Sian, Akçurin, Sema, Bircan, İffet
Publicado 2012

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

Assessment of the HNF1B Score as a Tool to Select Patients for HNF1B Genetic Testing

por Clissold, Rhian, Shields, Beverley, Ellard, Sian, Hattersley, Andrew, Bingham, Coralie
Publicado 2015

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

Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia

por Setoodeh, Aria, Haghighi, Amirreza, Saleh-Gohari, Nasrollah, Ellard, Sian, Haghighi, Alireza
Publicado 2013

Neonatal diabetes in Wolcott–Rallison syndrome: a case report

por Ngoc, Can Thi Bich, Dung, Vu Chi, Flanagan, Sarah, Ellard, Sian
Publicado 2013

A Novel KCNJ11 Mutation Associated with Transient Neonatal Diabetes

por Gole, Evangelia, Oikonomou, Stavroula, Ellard, Sian, De Franco, Elisa, Karavanaki, Kyriaki
Publicado 2018

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

por Flanagan, S. E., Kapoor, R. R., Smith, V. V., Hussain, K., Ellard, Sian
Publicado 2011

Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1

por Haghighi, Amirreza, Razzaghy-Azar, Maryam, Talea, Ali, Sadeghian, Mahnaz, Ellard, Sian, Haghighi, Alireza
Publicado 2012

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

Patients' understanding of genetic susceptibility testing in mainstream medicine: qualitative study on thrombophilia

por Saukko, Paula M, Ellard, Sian, Richards, Suzanne H, Shepherd, Maggie H, Campbell, John L
Publicado 2007

Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humans

por van de Bunt, Martijn, Edghill, Emma L., Hussain, Khalid, Ellard, Sian, Gloyn, Anna L.
Publicado 2008

Diabetes Susceptibility in the Canadian Oji-Cree Population Is Moderated by Abnormal mRNA Processing of HNF1A G319S Transcripts

por Harries, Lorna W., Sloman, Melissa J., Sellers, Elizabeth A.C., Hattersley, Andrew T., Ellard, Sian
Publicado 2008

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

Using Structural Analysis In Silico to Assess the Impact of Missense Variants in MEN1

por Caswell, Richard C, Owens, Martina M, Gunning, Adam C, Ellard, Sian, Wright, Caroline F
Publicado 2019

Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory

por Caswell, Richard C., Gunning, Adam C., Owens, Martina M., Ellard, Sian, Wright, Caroline F.
Publicado 2022