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Sian Ellard

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Kevin Colclough; Sarah E Flanagan; Cecile Saint-Martin; Christine Bellanne-Chantelot; Sian Ellard
Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia.
E De Franco; Friedrich Ebinger; Emma L Edghill; S Edvardsson; Sarah Flanagan; Andrew T Hattersley; V Otte; Charles Shaw-Smith; P Varthakavi; T Vasanthi; J Wolf; Sian Ellard
Biallelic PDX1 (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiency.
Ritika R Kapoor; Julian P Shield; Ved Bhushan Arya; Sian Ellard; Sarah E Flanagan; Khalid Hussain
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.

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2013: Kevin Colclough; Sarah E Flanagan; Cecile Saint-Martin; Christine Bellanne-Chantelot; Sian Ellard
Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia.
Human mutation 2013;34(5):669-85.
2013: E De Franco; Friedrich Ebinger; Emma L Edghill; S Edvardsson; Sarah Flanagan; Andrew T Hattersley; V Otte; Charles Shaw-Smith; P Varthakavi; T Vasanthi; J Wolf; Sian Ellard
Biallelic PDX1 (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiency.
Diabetic medicine : a journal of the British Diabetic Association 2013;30(5):e197-200.
2013: Ritika R Kapoor; Julian P Shield; Ved Bhushan Arya; Sian Ellard; Sarah E Flanagan; Khalid Hussain
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.
European journal of endocrinology / European Federation of Endocrine Societies 2013;168(4):557-64.
2013: Sarah E Flanagan; Andrew Green; Ayla Guven; Khalid Hussain; Nuala Murphy; Gonul Ocal; Maureen O'Sullivan; Zeynep Siklar; Christine Vianey-Saban; Michael N Weedon; Weijia Xie; Teoman Akcay; Indraneel Banerjee; Firdevs Bas; Merih Berberoglu; Richard Caswell; Peter E Clayton; Peter T Clayton; Annet Damhuis; Feyza Darendeliler; Sian Ellard
Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.
American journal of human genetics 2013;92(1):131-6.
2013: Dana Khoriati; Ved Bhushan Arya; Sian Ellard; Sarah E Flanagan; Khalid Hussain
Prematurity, macrosomia, hyperinsulinaemic hypoglycaemia and a dominant ABCC8 gene mutation.
BMJ case reports 2013;2013():.
2013: Sarah Flanagan; D P Flynn; S A W Greeley; J Hassing; C Acerini; Sian Ellard; K Hussain; A M Kaulfers; Deborah J G Mackay; W R Martin; Timothy James McDonald; V Mericq; J Popovic; E J Richmond; M A Sperling; Andrew T Hattersley
Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: expanding the clinical phenotype.
Diabetologia 2013;56(1):218-21.
2013: Emma L Edghill; Andrew T Hattersley; R A Oram; M H Shepherd; K Stals; Sian Ellard
HNF1B deletions in patients with young-onset diabetes but no known renal disease.
Diabetic medicine : a journal of the British Diabetic Association 2013;30(1):114-7.
2012: F H Sansbury; F L Shuixian Shen; J A L Houghton; A Kariminejad; M Abdullah; A M S Al-Senani; Sian Ellard; Sarah Flanagan; A M Habeb; Andrew T Hattersley
SLC2A2 mutations can cause neonatal diabetes, suggesting GLUT2 may have a role in human insulin secretion.
Diabetologia 2012;55(9):2381-5.
2012: Clementine S Fraser; Andrew T Hattersley; Jennifer A Littlechild; Oscar Rubio Cabezas; Sian Ellard; Sarah E Flanagan
Amino acid properties may be useful in predicting clinical outcome in patients with Kir6.2 neonatal diabetes.
European journal of endocrinology / European Federation of Endocrine Societies 2012;167(3):417-21.
2012: Marianna Rachmiel; Oscar Rubio Cabezas; Sian Ellard; Andrew T Hattersley; Kusiel Perlman
Early-onset, severe lipoatrophy in a patient with permanent neonatal diabetes mellitus secondary to a recessive mutation in the INS gene.
Pediatric diabetes 2012;13(6):e26-9.
2012: Ercan Mihci; Doğa Türkkahraman; Sema Akcurin; Sian Ellard; Iffet Bircan
Wolcott-Rallison syndrome due to a novel mutation (R491X) in EIF2AK3 gene.
Journal of clinical research in pediatric endocrinology 2012;4(2):101-3.
2012: Gaya Thanabalasingham; Aparna Pal; Mary P Selwood; Polly J Bingley; Christina Dudley; Sian Ellard; Andrew Farmer; Karen Fisher; Mark I McCarthy; Katharine R Owen
Systematic assessment of etiology in adults with a clinical diagnosis of young-onset type 2 diabetes is a successful strategy for identifying maturity-onset diabetes of the young.
Diabetes care 2012;35(6):1206-12.
2012: Charles Shaw-Smith; Mohamed Abdullah; Sarah E Flanagan; Juergen Grulich-Henn; Abdelhadi M Habeb; Andrew T Hattersley; Khalid Hussain; Krystyna Matyka; Ann-Marie Patch; Renata Pomahacova; Sian Ellard
Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia.
Pediatric diabetes 2012;13(4):314-21.
2012: Oscar Rubio Cabezas; Annet Damhuis; Sarah E Flanagan; Andrew T Hattersley; Sian Ellard
KATP channel mutations in infants with permanent diabetes diagnosed after 6 months of life.
Pediatric diabetes 2012;13(4):322-5.
2012: Timothy James McDonald; Jane McEneny; Katharine R Owen; Ewan R Pearson; Beverley M Shields; Magdalena Szopa; Gaya Thanabalasingham; Sian Ellard; Andrew T Hattersley; Maciej T Malecki; Ian S Young
Lipoprotein composition in HNF1A-MODY: differentiating between HNF1A-MODY and type 2 diabetes.
Clinica chimica acta; international journal of clinical chemistry 2012;413(9-10):927-32.
2012: B M Shields; M J Campbell; Sian Ellard; C Hyde; Timothy James McDonald; Andrew T Hattersley
The development and validation of a clinical prediction model to determine the probability of MODY in patients with young-onset diabetes.
Diabetologia 2012;55(5):1265-72.
2012: Se Flanagan; K Hussain; C Jefferies; Rr Kapoor; D Rokicki; I Banerjee; A Damhuis; Sian Ellard
Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemia.
Pediatric diabetes 2012;13(3):285-9.
2012: Peter D Turnpenny; Sian Ellard
Alagille syndrome: pathogenesis, diagnosis and management.
European journal of human genetics : EJHG 2012;20(3):251-7.
2012: Mashbat Bayarchimeg; Derek Burk; Sian Ellard; Sarah E Flanagan; Wolfgang Hogler; Dunia Ismail; Jeremy Kirk; Amanda Lam; Khalid Hussain
Galactokinase deficiency in a patient with congenital hyperinsulinism.
JIMD reports 2012;5():7-11.
2012: Erdem Durmaz; Sian Ellard; Sarah Flanagan; Serap Semiz; Sema Akcurin; Afig Berdeli; Iffet Bircan
Variability in the age at diagnosis of diabetes in two unrelated patients with a homozygous glucokinase gene mutation.
Journal of pediatric endocrinology & metabolism : JPEM 2012;25(7-8):805-8.
2012: Hana Lango Allen; Ildem Akerman; Richard Caswell; Elisa De Franco; Jorge Ferrer; Sarah E Flanagan; Andrew T Hattersley; Charles Shaw-Smith; Sian Ellard
GATA6 haploinsufficiency causes pancreatic agenesis in humans.
Nature genetics 2012;44(1):20-2.
2012: P Bowman; A Damhuis; Emma L Edghill; S E Flanagan; Andrew T Hattersley; R Paisey; M H Shepherd; Sian Ellard
Heterozygous ABCC8 mutations are a cause of MODY.
Diabetologia 2012;55(1):123-7.
2011: Timothy James McDonald; M Shepherd; B Shields; A Williams; P Bingley; R Brown; K Colclough; Andrew T Hattersley; Sian Ellard
Islet autoantibodies can discriminate maturity-onset diabetes of the young (MODY) from Type 1 diabetes.
Diabetic medicine : a journal of the British Diabetic Association 2011;28(9):1028-33.
2011: Michael N Weedon; Maggie Williams; Weijia Xie; Thalia Antoniadi; Richard Caswell; Lynn Greenhalgh; Robert Hastings; Cath King; Ruth Newbury-Ecob; Konrad Paszkiewicz; Sian Ellard
Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.
American journal of human genetics 2011;89(2):308-12.
2011: A M Steele; N D Tribble; K J Wensley; R Caswell; Anna L Gloyn; Andrew T Hattersley; Sian Ellard
The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY.
Diabetologia 2011;54(8):2202-5.
2011: Roope Männikkö; Mark S P Sansom; Phillip J Stansfeld; Alexandra S Ashcroft; Sian Ellard; Andrew T Hattersley; Frances M Ashcroft
A conserved tryptophan at the membrane-water interface acts as a gatekeeper for Kir6.2/SUR1 channels and causes neonatal diabetes when mutated.
The Journal of physiology 2011;589(Pt 13):3071-83.
2011: Emma L Edghill; Sian Ellard; Graham A Hitman; A Khamis; Mark I McCarthy; K R Owen; A T Hattersley; Mark Walker; Michael Weedon; T M Frayling
Sequencing PDX1 (insulin promoter factor 1) in 1788 UK individuals found 5% had a low frequency coding variant, but these variants are not associated with Type 2 diabetes.
Diabetic medicine : a journal of the British Diabetic Association 2011;28(6):681-4.
2011: S E Flanagan; R R Kapoor; V V Smith; I Banerjee; C Hall; K Hussain; Sian Ellard
Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia.
Clinical genetics 2011;79(6):582-7.
2011: Nicola L Beer; Martijn van de Bunt; Kevin Colclough; Christine Lukacs; Paul Arundel; Constance L Chik; Joseph Grimsby; Sian Ellard; Anna L Gloyn
Discovery of a novel site regulating glucokinase activity following characterization of a new mutation causing hyperinsulinemic hypoglycemia in humans.
The Journal of biological chemistry 2011;286(21):19118-26.
2011: Oscar Rubio Cabezas; Jan N Jensen; Maria I Hodgson; Ethel Codner; Sian Ellard; Palle Serup; Andrew T Hattersley
Permanent Neonatal Diabetes and Enteric Anendocrinosis Associated With Biallelic Mutations in NEUROG3.
Diabetes 2011;60(4):1349-53.
2011: Sarah Flanagan; K Hussain; R R Kapoor; Virpi V Smith; Sian Ellard
Paternal Uniparental Isodisomy of Chromosome 11p15.5 within the Pancreas Causes Isolated Hyperinsulinemic Hypoglycemia.
Frontiers in endocrinology 2011;2():66.
2011: Dunia Ismail; Virpi V Smith; Pascale de Lonlay; Maria-Joao Ribeiro; Jacques Rahier; Oliver Blankenstein; Sarah E Flanagan; Christine Bellanné-Chantelot; Virginie Verkarre; Yves Aigrain; Agostino Pierro; Sian Ellard; Khalid Hussain
Familial focal congenital hyperinsulinism.
The Journal of clinical endocrinology and metabolism 2011;96(1):24-8.
2011: Jayne A L Minton; Sarah E Flanagan; Sian Ellard
Mutation surveyor: software for DNA sequence analysis.
Methods in molecular biology (Clifton, N.J.) 2011;688():143-53.
2010: B M Shields; S Hicks; M H Shepherd; K Colclough; Andrew T Hattersley; Sian Ellard
Maturity-onset diabetes of the young (MODY): how many cases are we missing?
Diabetologia 2010;53(12):2504-8.
2010: Richard A Oram; Emma L Edghill; Jenny Blackman; Miles J O Taylor; Tracey Kay; Sarah E Flanagan; Ida Ismail-Pratt; Sarah M Creighton; Sian Ellard; Andrew T Hattersley; Coralie Bingham
Mutations in the hepatocyte nuclear factor-1β (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations.
American journal of obstetrics and gynecology 2010;203(4):364.e1-5.
2010: Emma L Edghill; Sarah E Flanagan; Sian Ellard
Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11.
Reviews in endocrine & metabolic disorders 2010;11(3):193-8.
2010: Oscar Rubio Cabezas; Jayne A L Minton; Iren Kantor; Denise Williams; Sian Ellard; Andrew T Hattersley
Homozygous mutations in NEUROD1 are responsible for a novel syndrome of permanent neonatal diabetes and neurological abnormalities.
Diabetes 2010;59(9):2326-31.
2010: Sarah E Flanagan; Ann-Marie Patch; Sian Ellard
Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations.
Genetic testing and molecular biomarkers 2010;14(4):533-7.
2010: A Wirsing; K A Johnstone; L W Harries; Sian Ellard; G U Ryffel; J Stanik; D Gasperikova; Iwar Klimes; R Murphy
Novel monogenic diabetes mutations in the P2 promoter of the HNF4A gene are associated with impaired function in vitro.
Diabetic medicine : a journal of the British Diabetic Association 2010;27(6):631-5.
2010: S E Flanagan; R R Kapoor; G Mali; D Cody; N Murphy; B Schwahn; T Siahanidou; I Banerjee; T Akcay; O Rubio-Cabezas; J P H Shield; K Hussain; Sian Ellard
Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations.
European journal of endocrinology / European Federation of Endocrine Societies 2010;162(5):987-92.
2010: Anitha Kumaran; Ritika R Kapoor; Sarah E Flanagan; Sian Ellard; Khalid Hussain
Congenital hyperinsulinism due to a compound heterozygous ABCC8 mutation with spontaneous resolution at eight weeks.
Hormone research in pædiatrics 2010;73(4):287-92.
2010: Emma L Edghill; Jayne A L Minton; Christopher J Groves; Sarah E Flanagan; Ann-Marie Patch; Oscar Rubio Cabezas; Maggie Shepherd; Sigurd Lenzen; Mark I McCarthy; Sian Ellard; Andrew T Hattersley
Sequencing of candidate genes selected by beta cell experts in monogenic diabetes of unknown aetiology.
JOP : Journal of the pancreas 2010;11(1):14-7.
2010: Hana Lango Allen; Stefan Johansson; Sian Ellard; Beverley Shields; Jens K Hertel; Helge Raeder; Kevin Colclough; Anders Molven; Timothy M Frayling; Pål R Njølstad; Andrew T Hattersley; Michael Weedon
Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes.
Diabetes 2010;59(1):266-71.
2010: Janniche Torsvik; Stefan Johansson; Anders Johansen; Jakob Ek; Jayne Minton; Helge Raeder; Sian Ellard; Andrew Hattersley; Oluf Pedersen; Torben Hansen; Anders Molven; Pål R Njølstad
Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes.
Human genetics 2010;127(1):55-64.
2009: Sara G I Suliman; Juraj Stanik; Laura J McCulloch; Natalie Wilson; Emma L Edghill; Nadezda Misovicova; Daniela Gasperikova; Vilja Sandrikova; Katherine S Elliott; Lubomir Barak; Sian Ellard; Emanuela V Volpi; Iwar Klimes; Anna L Gloyn
Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism.
Diabetes 2009;58(12):2954-61.
2009: Oscar Rubio Cabezas; Ann-Marie Patch; Jayne A L Minton; Sarah Flanagan; Emma L Edghill; Khalid Hussain; Amina Balafrej; Asma Deeb; Charles R Buchanan; Ian G Jefferson; Angham Mutair; Andrew T Hattersley; Sian Ellard
Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families.
The Journal of clinical endocrinology and metabolism 2009;94(11):4162-70.
2009: Kara K Osbak; Kevin Colclough; Cecile Saint-Martin; Nicola L Beer; Christine Bellanné-Chantelot; Sian Ellard; Anna L Gloyn
Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
Human mutation 2009;30(11):1512-26.
2009: Katy Hanlon; Lorna W Harries; Sian Ellard; Claudius E Rudin
Evaluation of 13q14 status in multiple myeloma by digital single nucleotide polymorphism technology.
The Journal of molecular diagnostics : JMD 2009;11(5):450-7.
2009: Annabelle S Slingerland; Beverley Shields; Sarah Flanagan; G Jan Bruining; K Noordam; A Gach; W Mlynarski; Maciej T Malecki; Andrew T Hattersley; Sian Ellard
Referral rates for diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1 in 260,000 live births.
Diabetologia 2009;52(8):1683-5.
2009: Daniela Gasperíková; Nicolas D Tribble; Juraj Staník; Miroslava Hucková; Nadezda Misovicová; Martijn van de Bunt; Lucia Valentínová; Beryl A Barrow; L'ubomir Barák; Radoslav Dobránsky; Eva Bereczková; Jozef Michálek; Kate Wicks; Kevin Colclough; Julian C Knight; Sian Ellard; Iwar Klimes; Anna L Gloyn
Identification of a novel beta-cell glucokinase (GCK) promoter mutation (-71G>C) that modulates GCK gene expression through loss of allele-specific Sp1 binding causing mild fasting hyperglycemia in humans.
Diabetes 2009;58(8):1929-35.
2009: Katy Hanlon; Sian Ellard; Claudius E Rudin; Susan Thorne; Teresa Davies; Lorna W Harries
Evaluation of 13q14 status in patients with chronic lymphocytic leukemia using single nucleotide polymorphism-based techniques.
The Journal of molecular diagnostics : JMD 2009;11(4):298-305.
2009: Tim J Craig; Kenju Shimomura; Reinhard W Holl; Sarah E Flanagan; Sian Ellard; Frances M Ashcroft
An in-frame deletion in Kir6.2 (KCNJ11) causing neonatal diabetes reveals a site of interaction between Kir6.2 and SUR1.
The Journal of clinical endocrinology and metabolism 2009;94(7):2551-7.
2009: Kenju Shimomura; Sarah E Flanagan; Brittany Zadek; Mark Lethby; Lejla Zubcevic; Christophe A J Girard; Oliver Petz; Roope Mannikko; Ritika R Kapoor; Khalid Hussain; Mars Skae; Peter Clayton; Andrew Hattersley; Sian Ellard; Frances M Ashcroft
Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism.
EMBO molecular medicine 2009;1(3):166-77.
2009: J M Locke; Sian Ellard; V F Norwood; Lorna W Harries
Variants in the isoform-specific coding regions of the HNF1A, HNF4A and HNF1B genes are not a common cause of familial, young-onset diabetes or renal cysts and diabetes (RCAD).
Diabetic medicine : a journal of the British Diabetic Association 2009;26(5):569-70.
2009: Sarah Flanagan; Séverine Clauin; Christine Bellanné-Chantelot; Pascale de Lonlay; Lorna W Harries; Anna L Gloyn; Sian Ellard
Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism.
Human mutation 2009;30(2):170-80.
2009: Emma L Edghill; Shihab Hameed; Charles F Verge; Oscar Rubio Cabezas; Jesús Argente; Zdenek Sumnik; Petra Dusatkova; Simon T Cliffe; Raoul Hennekam; Michael F Buckley; Khalid Hussain; Sian Ellard; Andrew T Attersley
Mutations in the SLC29A3 gene are not a common cause of isolated autoantibody negative type 1 diabetes.
JOP : Journal of the pancreas 2009;10(4):457-8.
2009: G Spyer; K M Macleod; M Shepherd; Sian Ellard; Andrew T Hattersley
Pregnancy outcome in patients with raised blood glucose due to a heterozygous glucokinase gene mutation.
Diabetic medicine : a journal of the British Diabetic Association 2009;26(1):14-8.
2009: Anna L Gloyn; M van de Bunt; Irene M Stratton; Lorne Lonie; L Tucker; Sian Ellard; Rury R Holman
Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia.
Diabetologia 2009;52(1):172-4.
2009: Oscar Rubio Cabezas; Jayne A L Minton; Richard Caswell; Julian P H Shield; Dorothee Deiss; Zdenek Sumnik; Amely Cayssials; Mathias Herr; Anja Loew; Vaughan Lewis; Sian Ellard; Andrew T Hattersley
Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes.
Diabetes care 2009;32(1):111-6.
2008: Sema Akcurin; Doga Turkkahraman; Carolyn Tysoe; Sian Ellard; Anne De Leener; Gilbert Vassart; Sabine Costagliola
A family with a novel TSH receptor activating germline mutation (p.Ala485Val).
European journal of pediatrics 2008;167(11):1231-7.
2008: Juraj Staník; Mark Lethby; Sarah Flanagan; Daniela Gasperíková; Beata Milosovicová; Margaret Lever; Hilary Bullman; Lejla Zubcevic; Andrew T Hattersley; Sian Ellard; Frances M Ashcroft; Iwar Klimes
Coincidence of a novel KCNJ11 missense variant R365H with a paternally inherited 6q24 duplication in a patient with transient neonatal diabetes.
Diabetes care 2008;31(9):1736-7.
2008: Noriko Miyake; John Chilton; Maria Psatha; Long Cheng; Caroline Andrews; Wai-Man Chan; Krystal Law; Moira Crosier; Susan Lindsay; Michelle Cheung; James Allen; Nick J Gutowski; Sian Ellard; Elizabeth Young; Alessandro Iannaccone; Binoy Appukuttan; J Timothy Stout; Stephen Christiansen; Maria Laura Ciccarelli; Alfonso Baldi; Mara Campioni; Juan C Zenteno; Dominic Davenport; Laura E Mariani; Mustafa Sahin; Sarah Guthrie; Elizabeth C Engle
Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome.
Science (New York, N.Y.) 2008;321(5890):839-43.
2008: Deborah J G Mackay; Jonathan L A Callaway; Sophie M Marks; Helen E White; Carlo L Acerini; Susanne E Boonen; Pinar Dayanikli; Helen V Firth; Judith A Goodship; Andreas P Haemers; Johanne M D Hahnemann; Olga Kordonouri; Ahmed F Masoud; Elsebet Oestergaard; John Storr; Sian Ellard; Andrew T Hattersley; David O Robinson; I Karen Temple
Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.
Nature genetics 2008;40(8):949-51.
2008: Lorna W Harries; Melissa J Sloman; Elizabeth A C Sellers; Andrew T Hattersley; Sian Ellard
Diabetes susceptibility in the Canadian Oji-Cree population is moderated by abnormal mRNA processing of HNF1A G319S transcripts.
Diabetes 2008;57(7):1978-82.
2008: Doga Turkkahraman; Iffet Bircan; Nicholas D Tribble; Sema Akçurin; Sian Ellard; Anna L Gloyn
Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy.
The Journal of pediatrics 2008;153(1):122-6.
2008: Louise Chappell; Shaun Gorman; Fiona Campbell; Sian Ellard; Gillian Rice; Angus Dobbie; Yanick J Crow
A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis.
American journal of medical genetics. Part A 2008;146A(13):1713-7.
2008: Henrik Christesen; Nicholas D Tribble; Anders Molven; Juveria Siddiqui; Tone Sandal; Klaus Brusgaard; Sian Ellard; Pål R Njølstad; Jan Alm; Bendt Brock-Jacobsen; Khalid Hussain; Anna L Gloyn
Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation.
European journal of endocrinology / European Federation of Endocrine Societies 2008;159(1):27-34.
2008: Karin Dudziak; Nima Mottalebi; Sabine Senkel; Emma L Edghill; Stefan Rosengarten; Magdalena Roose; Coralie Bingham; Sian Ellard; Gerhart U Ryffel
Transcription factor HNF1beta and novel partners affect nephrogenesis.
Kidney international 2008;74(2):210-7.
2008: Paul J Murray; Katie Thomas; Christopher J Mulgrew; Sian Ellard; Emma L Edghill; Coralie Bingham
Whole gene deletion of the hepatocyte nuclear factor-1beta gene in a patient with the prune-belly syndrome.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2008;23(7):2412-5.
2008: Julia Rankin; Michaela Auer-Grumbach; Warwick Bagg; Kevin Colclough; Thuy Duong Nguyen; Jane Fenton-May; Andrew Hattersley; Judith Hudson; Philip Jardine; Dragana Josifova; Cheryl Longman; Robert McWilliam; Katharine Owen; Mark Walker; Manfred Wehnert; Sian Ellard
Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C.
American journal of medical genetics. Part A 2008;146A(12):1530-42.
2008: Alberto S Cornier; Karen Staehling-Hampton; Kym M Delventhal; Yumiko Saga; Jean-Francois Caubet; Nobuo Sasaki; Sian Ellard; Elizabeth Young; Norman Ramirez; Simon E Carlo; Jose Torres; John B Emans; Peter D Turnpenny; Olivier Pourquié
Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.
American journal of human genetics 2008;82(6):1334-41.
2008: Lorna W Harries; Jonathan M Locke; Beverley Shields; Neil A Hanley; Karen Piper Hanley; Anna Steele; Pål R Njølstad; Sian Ellard; Andrew T Hattersley
The diabetic phenotype in HNF4A mutation carriers is moderated by the expression of HNF4A isoforms from the P1 promoter during fetal development.
Diabetes 2008;57(6):1745-52.
2008: Martijn van de Bunt; Emma L Edghill; Khalid Hussain; Sian Ellard; Anna L Gloyn
Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humans.
Molecular genetics and metabolism 2008;94(2):268-9.
2008: Ritika R Kapoor; Jonathan Locke; Kevin Colclough; Jerry Wales; Jennifer J Conn; Andrew T Hattersley; Sian Ellard; Khalid Hussain
Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations.
Diabetes 2008;57(6):1659-63.
2008: Carolyn Tysoe; Caroline J Law; Richard Caswell; Peter Clayton; Sian Ellard
Prenatal testing for a novel EBP missense mutation causing X-linked dominant chondrodysplasia punctata.
Prenatal diagnosis 2008;28(5):384-8.
2008: Paolo Tammaro; Sarah Flanagan; B Zadek; S Srinivasan; H Woodhead; S Hameed; Iwar Klimes; A T Hattersley; Sian Ellard; Frances M Ashcroft
A Kir6.2 mutation causing severe functional effects in vitro produces neonatal diabetes without the expected neurological complications.
Diabetologia 2008;51(5):802-10.
2008: Rinki Murphy; Sian Ellard; Andrew T Hattersley
Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes.
Nature clinical practice. Endocrinology & metabolism 2008;4(4):200-13.
2008: Sian Ellard; C Bellanné-Chantelot; Andrew T Hattersley
Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young.
Diabetologia 2008;51(4):546-53.
2008: Beverley Shields; Gill Spyer; Annabelle S Slingerland; Bridget A Knight; Sian Ellard; Penny M S Clark; Sylvie Hauguel-De Mouzon; Andrew T Hattersley
Mutations in the glucokinase gene of the fetus result in reduced placental weight.
Diabetes care 2008;31(4):753-7.
2008: Emma L Edghill; Sarah Flanagan; Ann-Marie Patch; Chris Boustred; Andrew Parrish; Beverley Shields; Maggie H Shepherd; Khalid Hussain; Ritika R Kapoor; Maciej Malecki; Michael J MacDonald; Julie Støy; Donald F Steiner; Louis H Philipson; Graeme I Bell; Andrew T Hattersley; Sian Ellard
Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.
Diabetes 2008;57(4):1034-42.
2008: Martina Owens; Sian Ellard; Bijay Vaidya
Analysis of gross deletions in the MEN1 gene in patients with multiple endocrine neoplasia type 1.
Clinical endocrinology 2008;68(3):350-4.
2008: Meena Rafiq; Sarah Flanagan; Ann-Marie Patch; Beverley Shields; Sian Ellard; Andrew T Hattersley
Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations.
Diabetes care 2008;31(2):204-9.
2008: Emma L Edghill; Richard A Oram; Martina Owens; Karen L Stals; Lorna W Harries; Andrew T Hattersley; Sian Ellard; Coralie Bingham
Hepatocyte nuclear factor-1beta gene deletions--a common cause of renal disease.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2008;23(2):627-35.
2008: Sarah E Flanagan; Sian Ellard
Identification of mutations in the Kir6.2 subunit of the K(ATP) channel.
Methods in molecular biology (Clifton, N.J.) 2008;491():235-45.
2008: Anish Ahamed; Ambika Gopalakrishnan Unnikrishnan; Sanket Sharad Pendsey; Sheela Nampoothiri; Nisha Bhavani; Valliyaparambil Pavithran Praveen; Harish Kumar; Rohinivilasam Vasukutty Jayakumar; Vasantha Nair; Sian Ellard; Emma L Edghill
Permanent neonatal diabetes mellitus due to a C96Y heterozygous mutation in the insulin gene. A case report.
JOP : Journal of the pancreas 2008;9(6):715-8.
2008: Khalid Hussain; Sarah Flanagan; Virpi V Smith; Michael Ashworth; Michael Day; Agostino Pierro; Sian Ellard
An ABCC8 gene mutation and mosaic uniparental isodisomy resulting in atypical diffuse congenital hyperinsulinism.
Diabetes 2008;57(1):259-63.
2008: Julian P H Shield; Sarah Flanagan; Deborah J G Mackay; Lorna W Harries; Peter Proks; Christophe Girard; Frances M Ashcroft; I Karen Temple; Sian Ellard
Mosaic paternal uniparental isodisomy and an ABCC8 gene mutation in a patient with permanent neonatal diabetes and hemihypertrophy.
Diabetes 2008;57(1):255-8.
2007: Heidi de Wet; Mathew G Rees; Kenju Shimomura; Jussi Aittoniemi; Ann-Marie Patch; Sarah Flanagan; Sian Ellard; Andrew T Hattersley; Mark S P Sansom; Frances M Ashcroft
Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes.
Proceedings of the National Academy of Sciences of the United States of America 2007;104(48):18988-92.
2007: Andrei I Tarasov; Christophe Girard; Brian Larkin; Paolo Tammaro; Sarah Flanagan; Sian Ellard; Frances M Ashcroft
Functional analysis of two Kir6.2 (KCNJ11) mutations, K170T and E322K, causing neonatal diabetes.
Diabetes, obesity & metabolism 2007;9 Suppl 2():46-55.
2007: Ann-Marie Patch; Sarah Flanagan; C Boustred; Andrew T Hattersley; Sian Ellard
Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period.
Diabetes, obesity & metabolism 2007;9 Suppl 2():28-39.
2007: Sian Ellard; K Thomas; Emma L Edghill; M Owens; L Ambye; J Cropper; J Little; M Strachan; A Stride; B Ersoy; H Eiberg; O Pedersen; M H Shepherd; T Hansen; Lorna W Harries; Andrew T Hattersley
Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young.
Diabetologia 2007;50(11):2313-7.
2007: Kenju Shimomura; Friederike Hörster; Heidi de Wet; Sarah Flanagan; Sian Ellard; Andrew T Hattersley; Nicole I Wolf; Frances M Ashcroft; Friedrich Ebinger
A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain.
Neurology 2007;69(13):1342-9.
2007: Julie Støy; Emma L Edghill; Sarah Flanagan; Honggang Ye; Veronica P Paz; Anna Pluzhnikov; Jennifer Below; M Geoffrey Hayes; Nancy J Cox; Gregory M Lipkind; Rebecca B Lipton; Siri Atma W Greeley; Ann-Marie Patch; Sian Ellard; Donald F Steiner; Andrew T Hattersley; Louis H Philipson; Graeme I Bell
Insulin gene mutations as a cause of permanent neonatal diabetes.
Proceedings of the National Academy of Sciences of the United States of America 2007;104(38):15040-4.
2007: Sian Ellard; Sarah Flanagan; Christophe Girard; Ann-Marie Patch; Lorna W Harries; Andrew Parrish; Emma L Edghill; Deborah J G Mackay; Peter Proks; Kenju Shimomura; Holger Haberland; Dennis J Carson; Julian P H Shield; Andrew T Hattersley; Frances M Ashcroft
Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.
American journal of human genetics 2007;81(2):375-82.
2007: R Singh; Emma L Edghill; Coralie Bingham; Sian Ellard; Andrew T Hattersley; Lorna W Harries
Low prevalence of mitochondrial DNA 3243A>G point mutation in Caucasians with unexplained renal disease.
Diabetic medicine : a journal of the British Diabetic Association 2007;24(7):804-6.
2007: Sarah Flanagan; Ann-Marie Patch; Deborah J G Mackay; Emma L Edghill; Anna L Gloyn; David Robinson; Julian P H Shield; Karen Temple; Sian Ellard; Andrew T Hattersley
Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.
Diabetes 2007;56(7):1930-7.
2007: Eleftheria Zeggini; Michael N Weedon; Cecilia M Lindgren; Timothy M Frayling; Katherine S Elliott; Hana Lango; Nicholas J Timpson; John R B Perry; Nigel W Rayner; Michael Weedon; Jeffrey C Barrett; Beverley Shields; Andrew P Morris; Sian Ellard; Christopher J Groves; Lorna W Harries; Jonathan Marchini; Katharine R Owen; Beatrice Knight; Lon R Cardon; Mark Walker; Graham A Hitman; Andrew D Morris; Alex S F Doney; Mark I McCarthy; Andrew T Hattersley
Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.
Science (New York, N.Y.) 2007;316(5829):1336-41.
2007: Ethel Codner; Sarah Flanagan; Francisca Ugarte; Hernán García; Teresa Vidal; Sian Ellard; Andrew T Hattersley
Sulfonylurea treatment in young children with neonatal diabetes: dealing with hyperglycemia, hypoglycemia, and sick days.
Diabetes care 2007;30(5):e28-9.
2007: Emma L Edghill; Anna L Gloyn; Anne Goriely; Lorna W Harries; Sarah Flanagan; Julia Rankin; Andrew T Hattersley; Sian Ellard
Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings.
The Journal of clinical endocrinology and metabolism 2007;92(5):1773-7.
2007: Ewan R Pearson; Sylvia F Boj; Anna M Steele; Timothy Barrett; Karen Stals; Julian P Shield; Sian Ellard; Jorge Ferrer; Andrew T Hattersley
Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene.
PLoS medicine 2007;4(4):e118.
2007: Juraj Stanik; Daniela Gasperikova; Magdalena Paskova; Lubomir Barak; Jana Javorkova; Emilia Jancova; Miriam Ciljakova; Peter Hlava; Jozef Michalek; Sarah Flanagan; Ewan R Pearson; Andrew T Hattersley; Sian Ellard; Iwar Klimes
Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers.
The Journal of clinical endocrinology and metabolism 2007;92(4):1276-82.
2007: Philipp Eller; Susanne Kaser; Karl Lhotta; Emma L Edghill; Sian Ellard; Christoph Ebenbichler; Josef R Patsch
Renal cysts and diabetes due to a heterozygous HNF-1beta gene deletion.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2007;22(4):1271-2.
2007: Dagan Jenkins; Maria Bitner-Glindzicz; Louise Thomasson; Sue Malcolm; Stephanie A Warne; Sally A Feather; Sarah E Flanagan; Sian Ellard; Coralie Bingham; Lane Santos; Mark Henkemeyer; Andrew Zinn; Linda A Baker; Duncan T Wilcox; Adrian S Woolf
Mutational analyses of UPIIIA, SHH, EFNB2 and HNF1beta in persistent cloaca and associated kidney malformations.
Journal of pediatric urology 2007;3(1):2-9.
2007: Elizabeth C Wolstencroft; Katy Hanlon; Lorna W Harries; Graham R Standen; Alexander Sternberg; Sian Ellard
Development of a quantitative real-time polymerase chain reaction assay for the detection of the JAK2 V617F mutation.
The Journal of molecular diagnostics : JMD 2007;9(1):42-6.
2007: Paula M Saukko; Sian Ellard; Suzanne H Richards; Maggie H Shepherd; John Campbell
Patients' understanding of genetic susceptibility testing in mainstream medicine: qualitative study on thrombophilia.
BMC health services research 2007;7():82.
2007: Wai-Man Chan; Caroline Andrews; Laryssa Dragan; Douglas Fredrick; Linlea Armstrong; Christopher Lyons; Michael T Geraghty; David G Hunter; Ahmad Yazdani; Elias Traboulsi; Jan Willem R Pott; Nicholas J Gutowski; Sian Ellard; Elizabeth Young; Frank Hanisch; Feray Koc; Bruce Schnall; Elizabeth C Engle
Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1.
BMC genetics 2007;8():26.
2007: Larissa Kerecuk; Anaar Sajoo; Lesley McGregor; Jonathan Berg; Mushfequr R Haq; Neil J Sebire; Coralie Bingham; Emma L Edghill; Sian Ellard; Judy Taylor; Sue Rigden; Frances Flinter; Adrian S Woolf
Autosomal dominant inheritance of non-syndromic renal hypoplasia and dysplasia: dramatic variation in clinical severity in a single kindred.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2007;22(1):259-63.
2006: Emma L Edghill; Coralie Bingham; Annabelle S Slingerland; Jayne A L Minton; C Noordam; Sian Ellard; Andrew T Hattersley
Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1beta in human pancreatic development.
Diabetic medicine : a journal of the British Diabetic Association 2006;23(12):1301-6.
2006: J Rankin; Sian Ellard
The laminopathies: a clinical review.
Clinical genetics 2006;70(4):261-74.
2006: Anna L Gloyn; Sian Ellard
Defining the genetic aetiology of monogenic diabetes can improve treatment.
Expert opinion on pharmacotherapy 2006;7(13):1759-67.
2006: Sian Ellard; Kevin Colclough
Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young.
Human mutation 2006;27(9):854-69.
2006: Ewan R Pearson; Isabelle Flechtner; Pål R Njølstad; Maciej T Malecki; Sarah Flanagan; Brian Larkin; Frances M Ashcroft; Iwar Klimes; Ethel Codner; Violeta Iotova; Annabelle S Slingerland; Julian P H Shield; Jean-Jacques Robert; Jens J Holst; Penny M Clark; Sian Ellard; Oddmund Søvik; Michel Polak; Andrew T Hattersley
Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.
The New England journal of medicine 2006;355(5):467-77.
2006: CL Wickham; Lorna W Harries; P T L Sarsfield; MV Joyner; Sian Ellard
Large variation in t(11;14)(q13;q32) and t(14;18)(q32;q21) translocation product size is confirmed by sequence analysis of PCR products.
Clinical and laboratory haematology 2006;28(4):248-53.
2006: Lorna W Harries; Sian Ellard; Amanda Stride; Noel G Morgan; Andrew T Hattersley
Isomers of the TCF1 gene encoding hepatocyte nuclear factor-1 alpha show differential expression in the pancreas and define the relationship between mutation position and clinical phenotype in monogenic diabetes.
Human molecular genetics 2006;15(14):2216-24.
2006: Anna L Gloyn; Catherine Diatloff-Zito; Emma L Edghill; Christine Bellanné-Chantelot; Sylvie Nivot; Régis Coutant; Sian Ellard; Andrew T Hattersley; Jean-Jacques Robert
KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.
European journal of human genetics : EJHG 2006;14(7):824-30.
2006: Gill Spyer; Sian Ellard; Peter D Turnpenny; Andrew T Hattersley; Bijay Vaidya
Phenotypic multiple endocrine neoplasia type 2B, without endocrinopathy or RET gene mutation: implications for management.
Thyroid : official journal of the American Thyroid Association 2006;16(6):605-8.
2006: Emma L Edghill; Rachel J Dix; Sarah Flanagan; Polly J Bingley; Andrew T Hattersley; Sian Ellard; Kathleen M Gillespie
HLA genotyping supports a nonautoimmune etiology in patients diagnosed with diabetes under the age of 6 months.
Diabetes 2006;55(6):1895-8.
2006: Kenju Shimomura; Christophe Girard; Peter Proks; Joanna Nazim; Jonathan D Lippiat; Franco Cerutti; Renata Lorini; Sian Ellard; Andrew T Hattersley; Fabrizio Barbetti; Frances M Ashcroft
Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects.
Diabetes 2006;55(6):1705-12.
2006: Peter Proks; Amanda L Arnold; Jan Bruining; Christophe Girard; Sarah Flanagan; Brian Larkin; Kevin Colclough; Andrew T Hattersley; Frances M Ashcroft; Sian Ellard
A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.
Human molecular genetics 2006;15(11):1793-800.
2006: Sarah Flanagan; Emma L Edghill; Anna L Gloyn; Sian Ellard; Andrew T Hattersley
Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype.
Diabetologia 2006;49(6):1190-7.
2006: Rinki Singh; Sian Ellard; Andrew T Hattersley; Lorna W Harries
Rapid and sensitive real-time polymerase chain reaction method for detection and quantification of 3243A>G mitochondrial point mutation.
The Journal of molecular diagnostics : JMD 2006;8(2):225-30.
2006: Anna L Gloyn; Juveria Siddiqui; Sian Ellard
Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism.
Human mutation 2006;27(3):220-31.
2006: Kirsten J Ward; Sian Ellard; Chittaranjan S Yajnik; Timothy M Frayling; Andrew T Hattersley; Prathyusha N S Venigalla; Giriraj R Chandak
Allelic drop-out may occur with a primer binding site polymorphism for the commonly used RFLP assay for the -1131T>C polymorphism of the Apolipoprotein AV gene.
Lipids in health and disease 2006;5():11.
2006: Duncan B Sparrow; Gavin Chapman; Merridee A Wouters; Neil Whittock; Sian Ellard; Diane Fatkin; Peter D Turnpenny; Kenro Kusumi; David Sillence; Sally L Dunwoodie
Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype.
American journal of human genetics 2006;78(1):28-37.
2006: Emma L Edghill; Coralie Bingham; Sian Ellard; Andrew T Hattersley
Mutations in hepatocyte nuclear factor-1beta and their related phenotypes.
Journal of medical genetics 2006;43(1):84-90.
2005: Lorna W Harries; Coralie Bingham; Christine Bellanne-Chantelot; Andrew T Hattersley; Sian Ellard
The position of premature termination codons in the hepatocyte nuclear factor -1 beta gene determines susceptibility to nonsense-mediated decay.
Human genetics 2005;118(2):214-24.
2005: Amanda Stride; Sian Ellard; Penny Clark; Lynette Shakespeare; Maurice Salzmann; Maggie Shepherd; Andrew T Hattersley
Beta-cell dysfunction, insulin sensitivity, and glycosuria precede diabetes in hepatocyte nuclear factor-1alpha mutation carriers.
Diabetes care 2005;28(7):1751-6.
2005: Sabine Schnyder; Primus E Mullis; Sian Ellard; Andrew T Hattersley; Christa E Flück
Genetic testing for glucokinase mutations in clinically selected patients with MODY: a worthwhile investment.
Swiss medical weekly 2005;135(23-24):352-6.
2005: Tomasz Klupa; E L Edghill; Joanna Nazim; Jacek Sieradzki; Sian Ellard; Andrew T Hattersley; Maciej T Malecki
The identification of a R201H mutation in KCNJ11, which encodes Kir6.2, and successful transfer to sustained-release sulphonylurea therapy in a subject with neonatal diabetes: evidence for heterogeneity of beta cell function among carriers of the R201H mutation.
Diabetologia 2005;48(5):1029-31.
2005: Ewan R Pearson; Stepanka Pruhova; C J Tack; Anders Johansen; H A J Castleden; P J Lumb; Anthony S Wierzbicki; Penny M Clark; Jan Lebl; Oluf Pedersen; Sian Ellard; Torben Hansen; Andrew T Hattersley
Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4alpha mutations in a large European collection.
Diabetologia 2005;48(5):878-85.
2005: Anna L Gloyn; Stella Odili; Dorothy Zelent; Carol Buettger; Harriet A J Castleden; Anna M Steele; Amanda Stride; Chiyo Shiota; Mark Magnuson; Renata Lorini; Giuseppe d'Annunzio; Charles A Stanley; Jae Kwagh; Emile Van Schaftingen; Maria Veiga-da-Cunha; Fabrizio Barbetti; Pete Dunten; Yi Han; Joseph Grimsby; Rebecca Taub; Sian Ellard; Andrew T Hattersley; Franz M Matschinsky
Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young.
The Journal of biological chemistry 2005;280(14):14105-13.
2005: Anna L Gloyn; Frank Reimann; Christophe Girard; Emma L Edghill; Peter Proks; Ewan R Pearson; I Karen Temple; Deborah J G Mackay; Julian P H Shield; Debra Freedenberg; Kathryn Noyes; Sian Ellard; Frances M Ashcroft; Fiona M Gribble; Andrew T Hattersley
Relapsing diabetes can result from moderately activating mutations in KCNJ11.
Human molecular genetics 2005;14(7):925-34.
2005: Ethel Codner; Sarah Flanagan; Sian Ellard; Hernán García; Andrew T Hattersley
High-dose glibenclamide can replace insulin therapy despite transitory diarrhea in early-onset diabetes caused by a novel R201L Kir6.2 mutation.
Diabetes care 2005;28(3):758-9.
2005: Sian Ellard; Andrew T Hattersley; C M Brewer; B Vaidya
Detection of an MEN1 gene mutation depends on clinical features and supports current referral criteria for diagnostic molecular genetic testing.
Clinical endocrinology 2005;62(2):169-75.
2005: Lorna W Harries; CL Wickham; J C Evans; S A Rule; MV Joyner; Sian Ellard
Analysis of haematopoietic chimaerism by quantitative real-time polymerase chain reaction.
Bone marrow transplantation 2005;35(3):283-90.
2004: Emma L Edghill; Anna L Gloyn; Kathleen M Gillespie; A Paul Lambert; Neil T Raymond; Peter G Swift; Sian Ellard; Edwin A M Gale; Andrew T Hattersley
Activating mutations in the KCNJ11 gene encoding the ATP-sensitive K+ channel subunit Kir6.2 are rare in clinically defined type 1 diabetes diagnosed before 2 years.
Diabetes 2004;53(11):2998-3001.
2004: Anna L Gloyn; Elizabeth A Cummings; Emma L Edghill; Lorna W Harries; Rachel Scott; Teresa Costa; I Karen Temple; Andrew T Hattersley; Sian Ellard
Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel.
The Journal of clinical endocrinology and metabolism 2004;89(8):3932-5.
2004: Neil Whittock; Sian Ellard; J Duncan; C E M de Die-Smulders; Johan S H Vles; Peter D Turnpenny
Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations.
Clinical genetics 2004;66(1):67-72.
2004: Bijay Vaidya; Viv Campbell; John H Tripp; Gill Spyer; Andrew T Hattersley; Sian Ellard
Premature birth and low birth weight associated with nonautoimmune hyperthyroidism due to an activating thyrotropin receptor gene mutation.
Clinical endocrinology 2004;60(6):711-8.
2004: Neil Whittock; Duncan B Sparrow; Merridee A Wouters; David Sillence; Sian Ellard; Sally L Dunwoodie; Peter D Turnpenny
Mutated MESP2 causes spondylocostal dysostosis in humans.
American journal of human genetics 2004;74(6):1249-54.
2004: Ewan R Pearson; Michael K Badman; Christopher R Lockwood; Penny M Clark; Sian Ellard; Coralie Bingham; Andrew T Hattersley
Contrasting diabetes phenotypes associated with hepatocyte nuclear factor-1alpha and -1beta mutations.
Diabetes care 2004;27(5):1102-7.
2004: Lorna W Harries; Sian Ellard; R W A Jones; Andrew T Hattersley; Coralie Bingham
Abnormal splicing of hepatocyte nuclear factor-1 beta in the renal cysts and diabetes syndrome.
Diabetologia 2004;47(5):937-42.
2004: Anna L Gloyn; Ewan R Pearson; Jennifer F Antcliff; Peter Proks; G Jan Bruining; Annabelle S Slingerland; Neville Howard; Shubha Srinivasan; José M C L Silva; Janne Molnes; Emma L Edghill; Timothy M Frayling; I Karen Temple; Deborah Mackay; Julian P H Shield; Zdenek Sumnik; Adrian van Rhijn; J K H Wales; Penny Clark; Shaun Gorman; Javier Aisenberg; Sian Ellard; Pål R Njølstad; Frances M Ashcroft; Andrew T Hattersley
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.
The New England journal of medicine 2004;350(18):1838-49.
2004: Lorna W Harries; Andrew T Hattersley; Sian Ellard
Messenger RNA transcripts of the hepatocyte nuclear factor-1alpha gene containing premature termination codons are subject to nonsense-mediated decay.
Diabetes 2004;53(2):500-4.
2004: Katharine R Owen; Mollie Donohoe; Sian Ellard; Tom J Clarke; Anthony J Nicholls; Andrew T Hattersley; Coralie Bingham
Mesangiocapillary glomerulonephritis type 2 associated with familial partial lipodystrophy (Dunnigan-Kobberling syndrome).
Nephron. Clinical practice 2004;96(2):c35-8.
2004: Sian Ellard
Multiple endocrine neoplasia types 1 and 2.
Methods in molecular medicine 2004;92():267-83.
2003: Maggie Shepherd; Ewan R Pearson; Jane Houghton; Gill Salt; Sian Ellard; Andrew T Hattersley
No deterioration in glycemic control in HNF-1alpha maturity-onset diabetes of the young following transfer from long-term insulin to sulphonylureas.
Diabetes care 2003;26(11):3191-2.
2003: K L Thomson; Anna L Gloyn; Kevin Colclough; M Batten; Lisa I S Allen; F Beards; Andrew T Hattersley; Sian Ellard
Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY).
Human mutation 2003;22(5):417.
2003: Neil Whittock; Louise Izatt; Anuska Mann; Tessa Homfray; Christopher Bennett; Sahar Mansour; Jane Hurst; Alan Fryer; Anand K Saggar; Julian G Barwell; Sian Ellard; Peter T Clayton
Novel mutations in X-linked dominant chondrodysplasia punctata (CDPX2).
The Journal of investigative dermatology 2003;121(4):939-42.
2003: Katharine R Owen; Mollie Donohoe; Sian Ellard; Andrew T Hattersley
Response to treatment with rosiglitazone in familial partial lipodystrophy due to a mutation in the LMNA gene.
Diabetic medicine : a journal of the British Diabetic Association 2003;20(10):823-7.
2003: Anna L Gloyn; Kees Noordam; Michèl A A P Willemsen; Sian Ellard; Wayne W K Lam; Ian W Campbell; Paula Midgley; Chiyo Shiota; Carol Buettger; Mark Magnuson; Franz M Matschinsky; Andrew T Hattersley
Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations.
Diabetes 2003;52(9):2433-40.
2003: Silvia Bohn; Heike Thomas; Gülüzar Turan; Sian Ellard; Coralie Bingham; Andrew T Hattersley; Gerhart U Ryffel
Distinct molecular and morphogenetic properties of mutations in the human HNF1beta gene that lead to defective kidney development.
Journal of the American Society of Nephrology : JASN 2003;14(8):2033-41.
2003: Neil Whittock; Peter D Turnpenny; Joep H A M Tuerlings; Sian Ellard
Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis.
Prenatal diagnosis 2003;23(7):575-9.
2003: Katharine R Owen; Amanda Stride; Sian Ellard; Andrew T Hattersley
Etiological investigation of diabetes in young adults presenting with apparent type 2 diabetes.
Diabetes care 2003;26(7):2088-93.
2003: Peter D Turnpenny; Neil Whittock; J Duncan; Sally L Dunwoodie; Kenro Kusumi; Sian Ellard
Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis.
Journal of medical genetics 2003;40(5):333-9.
2003: Coralie Bingham; Sian Ellard; William G Van't Hoff; H Anne Simmonds; Anthony M Marinaki; Michael K Badman; Peter H Winocour; Amanda Stride; Christopher R Lockwood; Anthony J Nicholls; Katharine R Owen; Ghislaine Spyer; Ewan R Pearson; Andrew T Hattersley
Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation.
Kidney international 2003;63(5):1645-51.
2003: Timothy M Frayling; Cecilia M Lindgren; Jean Claude Chevre; Stephan Menzel; Marie Wishart; Yamina Benmezroua; Alison Brown; Julie C Evans; Pamidghantam Subba Rao; Christian Dina; Cécile Lecoeur; Timo Kanninen; Peter Almgren; Michael P Bulman; Youxiang Wang; James Mills; Rosemarie Wright-Pascoe; Melanie M Mahtani; Francesco Prisco; Angels Costa; Ignacio Cognet; Torben Hansen; Oluf Pedersen; Sian Ellard; Tiinamaija Tuomi; Leif C Groop; philippe froguel; Andrew T Hattersley; Martine Vaxillaire
A genome-wide scan in families with maturity-onset diabetes of the young: evidence for further genetic heterogeneity.
Diabetes 2003;52(3):872-81.
2003: A Paul Lambert; Sian Ellard; Lisa I S Allen; Ian W Gallen; Kathleen M Gillespie; Polly J Bingley; Andrew T Hattersley
Identifying hepatic nuclear factor 1alpha mutations in children and young adults with a clinical diagnosis of type 1 diabetes.
Diabetes care 2003;26(2):333-7.
2003: CL Wickham; H Armitage; MV Joyner; P T L Sarsfield; M Boyce; BS Wilkins; DB Jones; Sian Ellard
Quantitation of cyclin D1 over-expression using competitive fluorescent reverse transcription polymerase chain reaction: a tool for the differential diagnosis of mantle cell lymphoma.
Medical oncology (Northwood, London, England) 2003;20(1):77-85.
2003: Stewart C Ferguson; Ian J Deary; Petros Perros; Julie C Evans; Sian Ellard; Andrew T Hattersley; Brian M Frier
Apolipoprotein-e influences aspects of intellectual ability in type 1 diabetes.
Diabetes 2003;52(1):145-8.
2002: Simon C Waller; Lesley Rees; Adrian S Woolf; Sian Ellard; Ewan R Pearson; Andrew T Hattersley; Coralie Bingham
Severe hyperglycemia after renal transplantation in a pediatric patient with a mutation of the hepatocyte nuclear factor-1beta gene.
American journal of kidney diseases : the official journal of the National Kidney Foundation 2002;40(6):1325-30.
2002: Amanda Stride; Maggie Shepherd; Timothy M Frayling; Michael P Bulman; Sian Ellard; Andrew T Hattersley
Intrauterine hyperglycemia is associated with an earlier diagnosis of diabetes in HNF-1alpha gene mutation carriers.
Diabetes care 2002;25(12):2287-91.
2002: Heike Thomas; Britta Badenberg; Michael P Bulman; Ira Lemm; Jörn Lausen; Lucy Kind; Simone Roosen; Sian Ellard; Andrew T Hattersley; Gerhart U Ryffel
Evidence for haploinsufficiency of the human HNF1alpha gene revealed by functional characterization of MODY3-associated mutations.
Biological chemistry 2002;383(11):1691-700.
2002: Michael P Bulman; L W Harries; Torben Hansen; Maggie Shepherd; W F Kelly; Andrew T Hattersley; Sian Ellard
Abnormal splicing of hepatocyte nuclear factor 1 alpha in maturity-onset diabetes of the young.
Diabetologia 2002;45(10):1463-7.
2002: Katharine R Owen; Maggie Shepherd; Amanda Stride; Sian Ellard; Andrew T Hattersley
Heterogeneity in young adult onset diabetes: aetiology alters clinical characteristics.
Diabetic medicine : a journal of the British Diabetic Association 2002;19(9):758-61.
2002: Anna L Gloyn; Sian Ellard; Maggie Shepherd; Rodney T Howell; Elizabeth M Parry; Andrew Jefferson; Elaine R Levy; Andrew T Hattersley
Maturity-onset diabetes of the young caused by a balanced translocation where the 20q12 break point results in disruption upstream of the coding region of hepatocyte nuclear factor-4alpha (HNF4A) gene.
Diabetes 2002;51(7):2329-33.
2002: Jeremy J O Turner; Poloko D Leotlela; Anna A J Pannett; Simon A Forbes; J H Duncan Bassett; Brian Harding; Paul T Christie; David Bowen-Jones; Sian Ellard; Andrew T Hattersley; Charles E Jackson; Richard Pope; Oliver W Quarrell; Richard C Trembath; Rajesh V Thakker
Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1.
The Journal of clinical endocrinology and metabolism 2002;87(6):2688-93.
2002: Coralie Bingham; Sian Ellard; Trevor R P Cole; Katrin E Jones; Lisa I S Allen; Judith A Goodship; Timothy H J Goodship; Daniela Bakalinova-Pugh; Gavin I Russell; Adrian S Woolf; Anthony J Nicholls; Andrew T Hattersley
Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations.
Kidney international 2002;61(4):1243-51.
2002: Anna L Gloyn; Sian Ellard; Julian P H Shield; I Karen Temple; Deborah J G Mackay; M Polak; T Barrett; Andrew T Hattersley
Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes.
Diabetologia 2002;45(2):290.
2001: M Kolatsi-Joannou; Coralie Bingham; Sian Ellard; Michael P Bulman; Lisa I S Allen; Andrew T Hattersley; Adrian S Woolf
Hepatocyte nuclear factor-1beta: a new kindred with renal cysts and diabetes and gene expression in normal human development.
Journal of the American Society of Nephrology : JASN 2001;12(10):2175-80.
2001: Heike Thomas; K Jaschkowitz; Michael P Bulman; Timothy M Frayling; Simon M S Mitchell; S Roosen; A Lingott-Frieg; C J Tack; Sian Ellard; Gerhart U Ryffel; Andrew T Hattersley
A distant upstream promoter of the HNF-4alpha gene connects the transcription factors involved in maturity-onset diabetes of the young.
Human molecular genetics 2001;10(19):2089-97.
2001: Coralie Bingham; Sian Ellard; Anthony J Nicholls; C A Pennock; J Allen; A J James; SC Satchell; M B Salzmann; Andrew T Hattersley
The generalized aminoaciduria seen in patients with hepatocyte nuclear factor-1alpha mutations is a feature of all patients with diabetes and is associated with glucosuria.
Diabetes 2001;50(9):2047-52.
2001: Julie C Evans; Timothy M Frayling; Paul G Cassell; PJ Saker; Graham A Hitman; Mark Walker; Jonathan C Levy; Stephen O'Rahilly; PV Rao; A J Bennett; E C Jones; Stephan Menzel; P Prestwich; N Simecek; Marie Wishart; R Dhillon; C Fletcher; Ann Millward; Andrew G Demaine; T Wilkin; Y Horikawa; N J Cox; Graeme I Bell; Sian Ellard; Mark I McCarthy; Andrew T Hattersley
Studies of association between the gene for calpain-10 and type 2 diabetes mellitus in the United Kingdom.
American journal of human genetics 2001;69(3):544-52.
2001: Eleni Kousta; Sian Ellard; L I Allen; PJ Saker; SJ Huxtable; Andrew T Hattersley; Mark I McCarthy
Glucokinase mutations in a phenotypically selected multiethnic group of women with a history of gestational diabetes.
Diabetic medicine : a journal of the British Diabetic Association 2001;18(8):683-4.
2001: Maggie Shepherd; I Ellis; A M Ahmad; P J Todd; D Bowen-Jones; G Mannion; Sian Ellard; Andrew C Sparkes; Andrew T Hattersley
Predictive genetic testing in maturity-onset diabetes of the young (MODY).
Diabetic medicine : a journal of the British Diabetic Association 2001;18(5):417-21.
2001: Timothy M Frayling; Julie C Evans; Michael P Bulman; Ewan R Pearson; L Allen; Katharine R Owen; Coralie Bingham; Michael M Hannemann; Maggie Shepherd; Sian Ellard; Andrew T Hattersley
beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors.
Diabetes 2001;50 Suppl 1():S94-100.
2001: Ewan R Pearson; G Velho; Penny Clark; Amanda Stride; Maggie Shepherd; Timothy M Frayling; Michael P Bulman; Sian Ellard; philippe froguel; Andrew T Hattersley
beta-cell genes and diabetes: quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-1alpha and glucokinase mutations.
Diabetes 2001;50 Suppl 1():S101-7.
2001: Coralie Bingham; Michael P Bulman; Sian Ellard; Lisa I S Allen; G W Lipkin; W G Hoff; Adrian S Woolf; G Rizzoni; G Novelli; Anthony J Nicholls; Andrew T Hattersley
Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease.
American journal of human genetics 2001;68(1):219-24.
2000: CL Wickham; P T L Sarsfield; MV Joyner; DB Jones; Sian Ellard; BS Wilkins
Formic acid decalcification of bone marrow trephines degrades DNA: alternative use of EDTA allows the amplification and sequencing of relatively long PCR products.
Molecular pathology : MP 2000;53(6):336.
2000: Sian Ellard
Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young.
Human mutation 2000;16(5):377-85.
2000: Sian Ellard; Michael P Bulman; Timothy M Frayling; Maggie Shepherd; Andrew T Hattersley
Proposed mechanism for a novel insertion/deletion frameshift mutation (I414G415ATCG-->CCA) in the hepatocyte nuclear factor 1 alpha (HNF-1 alpha) gene which causes maturity-onset diabetes of the young (MODY).
Human mutation 2000;16(3):273.
2000: CL Wickham; MV Joyner; C Lynas; Sian Ellard
Detection of clonal B-cell populations using fluorescently labeled nucleotides.
BioTechniques 2000;29(2):215-8.
2000: Julie C Evans; Timothy M Frayling; Sian Ellard; Nicholas J Gutowski
Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31.
Human genetics 2000;106(6):636-8.
2000: CL Wickham; C Lynas; Sian Ellard
Detection of clonal T cell populations by high resolution PCR using fluorescently labelled nucleotides; evaluation using conventional LIS-SSCP.
Molecular pathology : MP 2000;53(3):150-4.
2000: W Wild; E Pogge von Strandmann; A Nastos; Sabine Senkel; A Lingott-Frieg; Michael P Bulman; Coralie Bingham; Sian Ellard; Andrew T Hattersley; Gerhart U Ryffel
The mutated human gene encoding hepatocyte nuclear factor 1beta inhibits kidney formation in developing Xenopus embryos.
Proceedings of the National Academy of Sciences of the United States of America 2000;97(9):4695-700.
2000: Michael P Bulman; Kenro Kusumi; Timothy M Frayling; C McKeown; C Garrett; E S Lander; Carl Schwarz; A T Hattersley; Sian Ellard; Peter D Turnpenny
Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis.
Nature genetics 2000;24(4):438-41.
2000: Coralie Bingham; Sian Ellard; L Allen; Michael P Bulman; Maggie Shepherd; Timothy M Frayling; P J Berry; Penny M Clark; T Lindner; Graeme I Bell; Gerhart U Ryffel; Anthony J Nicholls; Andrew T Hattersley
Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta.
Kidney international 2000;57(3):898-907.
2000: CL Wickham; M Boyce; MV Joyner; P T L Sarsfield; BS Wilkins; DB Jones; Sian Ellard
Amplification of PCR products in excess of 600 base pairs using DNA extracted from decalcified, paraffin wax embedded bone marrow trephine biopsies.
Molecular pathology : MP 2000;53(1):19-23.
2000: Sian Ellard; F Beards; Lisa I S Allen; Maggie Shepherd; E Ballantyne; R Harvey; Andrew T Hattersley
A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria.
Diabetologia 2000;43(2):250-3.
2000: Timothy M Frayling; Mark I McCarthy; Mark Walker; Jonathan C Levy; Stephen O'Rahilly; Graham A Hitman; PV Rao; A J Bennett; E C Jones; Stephan Menzel; Sian Ellard; Andrew T Hattersley
No evidence for linkage at candidate type 2 diabetes susceptibility loci on chromosomes 12 and 20 in United Kingdom Caucasians.
The Journal of clinical endocrinology and metabolism 2000;85(2):853-7.
1999: Timothy M Frayling; Mark Walker; Mark I McCarthy; Julie C Evans; Lisa I S Allen; Stephen Lynn; S Ayres; B Millauer; C Turner; R C Turner; Mike J Sampson; Graham A Hitman; Sian Ellard; Andrew T Hattersley
Parent-offspring trios: a resource to facilitate the identification of type 2 diabetes genes.
Diabetes 1999;48(12):2475-9.
1999: Peter D Turnpenny; Michael P Bulman; Timothy M Frayling; T K Abu-Nasra; C Garrett; A T Hattersley; Sian Ellard
A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3.
American journal of human genetics 1999;65(1):175-82.
1999: Sian Ellard; Michael P Bulman; Timothy M Frayling; Lisa I S Allen; MJ Dronsfield; C J Tack; Andrew T Hattersley
Allelic drop-out in exon 2 of the hepatocyte nuclear factor-1alpha gene hinders the identification of mutations in three families with maturity-onset diabetes of the young.
Diabetes 1999;48(4):921-3.
1998: Andrew T Hattersley; F Beards; E Ballantyne; M Appleton; R Harvey; Sian Ellard
Mutations in the glucokinase gene of the fetus result in reduced birth weight.
Nature genetics 1998;19(3):268-70.
1998: F Beards; Timothy M Frayling; Michael P Bulman; Y Horikawa; L Allen; M Appleton; Graeme I Bell; Sian Ellard; Andrew T Hattersley
Mutations in hepatocyte nuclear factor 1beta are not a common cause of maturity-onset diabetes of the young in the U.K.
Diabetes 1998;47(7):1152-4.
1998: Timothy M Frayling; Sian Ellard; J Grove; M Walker; Andrew T Hattersley
C282Y mutation in HFE (haemochromatosis) gene and type 2 diabetes.
Lancet 1998;351(9120):1933-4.
1998: KA Matyka; F Beards; M Appleton; Sian Ellard; Andrew T Hattersley; David D Dunger
Genetic testing for maturity onset diabetes of the young in childhood hyperglycaemia.
Archives of disease in childhood 1998;78(6):552-4.
1997: Timothy M Frayling; Michael P Bulman; M Appleton; Andrew T Hattersley; Sian Ellard
A rapid screening method for hepatocyte nuclear factor 1 alpha frameshift mutations; prevalence in maturity-onset diabetes of the young and late-onset non-insulin dependent diabetes.
Human genetics 1997;101(3):351-4.
1997: Michael P Bulman; MJ Dronsfield; Timothy M Frayling; M Appleton; Stephen C Bain; Sian Ellard; Andrew T Hattersley
A missense mutation in the hepatocyte nuclear factor 4 alpha gene in a UK pedigree with maturity-onset diabetes of the young.
Diabetologia 1997;40(7):859-62.
1997: Timothy M Frayling; M P Bulamn; Sian Ellard; M Appleton; MJ Dronsfield; A D Mackie; J D Baird; P J Kaisaki; K Yamagata; Graeme I Bell; Stephen C Bain; Andrew T Hattersley
Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of maturity-onset diabetes of the young in the U.K.
Diabetes 1997;46(4):720-5.