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Sian Ellard

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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TOP 3
Rubio-Cabezas Oscar; Patch Ann-Marie; Minton Jayne A L; Flanagan Sarah E; Edghill Emma L; Hussain Khalid; Balafrej Amina; Deeb Asma; Buchanan Charles R; Jefferson Ian G; Mutair Angham; Hattersley Andrew T; Ellard Sian
Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families.
Osbak Kara K; Colclough Kevin; Saint-Martin Cecile; Beer Nicola L; Bellanné-Chantelot Christine; Ellard Sian; Gloyn Anna L
Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
Hanlon Katy; Harries Lorna W; Ellard Sian; Rudin Claudius E
Evaluation of 13q14 status in multiple myeloma by digital single nucleotide polymorphism technology.

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All Publications

2009: Rubio-Cabezas Oscar; Patch Ann-Marie; Minton Jayne A L; Flanagan Sarah E; Edghill Emma L; Hussain Khalid; Balafrej Amina; Deeb Asma; Buchanan Charles R; Jefferson Ian G; Mutair Angham; Hattersley Andrew T; Ellard Sian
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: Osbak Kara K; Colclough Kevin; Saint-Martin Cecile; Beer Nicola L; Bellanné-Chantelot Christine; Ellard Sian; Gloyn Anna L
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: Hanlon Katy; Harries Lorna W; Ellard Sian; Rudin Claudius E
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: Slingerland A S; Shields B M; Flanagan S E; Bruining G J; Noordam K; Gach A; Mlynarski W; Malecki M T; Hattersley A T; Ellard S
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: Gasperíková Daniela; Tribble Nicolas D; Staník Juraj; Hucková Miroslava; Misovicová Nadezda; van de Bunt Martijn; Valentínová Lucia; Barrow Beryl A; Barák L'ubomir; Dobránsky Radoslav; Bereczková Eva; Michálek Jozef; Wicks Kate; Colclough Kevin; Knight Julian C; Ellard Sian; Klimes Iwar; Gloyn Anna L
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: Hanlon Katy; Ellard Sian; Rudin Claudius E; Thorne Susan; Davies Teresa; Harries Lorna W
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: Craig Tim J; Shimomura Kenju; Holl Reinhard W; Flanagan Sarah E; Ellard Sian; Ashcroft Frances M
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: Locke J M; Ellard S; Norwood V F; Harries L W
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: Flanagan Sarah E; Clauin Séverine; Bellanné-Chantelot Christine; de Lonlay Pascale; Harries Lorna W; Gloyn Anna L; Ellard Sian
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: Spyer G; Macleod K M; Shepherd M; Ellard S; Hattersley A T
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: Gloyn A L; van de Bunt M; Stratton I M; Lonie L; Tucker L; Ellard S; Holman R R
Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia.
Diabetologia 2009;52(1):172-4.
2009: Rubio-Cabezas Oscar; Minton Jayne A L; Caswell Richard; Shield Julian P; Deiss Dorothee; Sumnik Zdenek; Cayssials Amely; Herr Mathias; Loew Anja; Lewis Vaughan; Ellard Sian; Hattersley Andrew T
Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes.
Diabetes care 2009;32(1):111-6.
2009: Edghill Emma L; Hameed Shihab; Verge Charles F; Rubio-Cabezas Oscar; Argente Jesús; Sumnik Zdenek; Dusatkova Petra; Cliffe Simon T; Hennekam Raoul C M; Buckley Michael F; Hussain Khalid; Ellard Sian; Attersley Andrew T
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.
2008: Akcurin Sema; Turkkahraman Doga; Tysoe Carolyn; Ellard Sian; De Leener Anne; Vassart Gilbert; Costagliola Sabine
A family with a novel TSH receptor activating germline mutation (p.Ala485Val).
European journal of pediatrics 2008;167(11):1231-7.
2008: Staník Juraj; Lethby Mark; Flanagan Sarah E; Gasperíková Daniela; Milosovicová Beata; Lever Margaret; Bullman Hilary; Zubcevic Lejla; Hattersley Andrew T; Ellard Sian; Ashcroft Frances M; Klimes Iwar
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: Miyake Noriko; Chilton John; Psatha Maria; Cheng Long; Andrews Caroline; Chan Wai-Man; Law Krystal; Crosier Moira; Lindsay Susan; Cheung Michelle; Allen James; Gutowski Nick J; Ellard Sian; Young Elizabeth; Iannaccone Alessandro; Appukuttan Binoy; Stout J Timothy; Christiansen Stephen; Ciccarelli Maria Laura; Baldi Alfonso; Campioni Mara; Zenteno Juan C; Davenport Dominic; Mariani Laura E; Sahin Mustafa; Guthrie Sarah; Engle Elizabeth C
Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome.
Science (New York, N.Y.) 2008;321(5890):839-43.
2008: Mackay Deborah J G; Callaway Jonathan L A; Marks Sophie M; White Helen E; Acerini Carlo L; Boonen Susanne E; Dayanikli Pinar; Firth Helen V; Goodship Judith A; Haemers Andreas P; Hahnemann Johanne M D; Kordonouri Olga; Masoud Ahmed F; Oestergaard Elsebet; Storr John; Ellard Sian; Hattersley Andrew T; Robinson David O; Temple I Karen
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: Harries Lorna W; Sloman Melissa J; Sellers Elizabeth A C; Hattersley Andrew T; Ellard Sian
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: Turkkahraman Doga; Bircan Iffet; Tribble Nicholas D; Akçurin Sema; Ellard Sian; Gloyn Anna L
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: Chappell Louise; Gorman Shaun; Campbell Fiona; Ellard Sian; Rice Gillian; Dobbie Angus; Crow Yanick
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: Christesen Henrik B T; Tribble Nicholas D; Molven Anders; Siddiqui Juveria; Sandal Tone; Brusgaard Klaus; Ellard Sian; Njølstad Pål R; Alm Jan; Brock Jacobsen Bendt; Hussain Khalid; Gloyn Anna L
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: Dudziak Karin; Mottalebi Nima; Senkel Sabine; Edghill Emma L; Rosengarten Stefan; Roose Magdalena; Bingham Coralie; Ellard Sian; Ryffel Gerhart U
Transcription factor HNF1beta and novel partners affect nephrogenesis.
Kidney international 2008;74(2):210-7.
2008: Murray Paul J; Thomas Katie; Mulgrew Christopher J; Ellard Sian; Edghill Emma L; Bingham Coralie
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: Cornier Alberto S; Staehling-Hampton Karen; Delventhal Kym M; Saga Yumiko; Caubet Jean-Francois; Sasaki Nobuo; Ellard Sian; Young Elizabeth; Ramirez Norman; Carlo Simon E; Torres Jose; Emans John B; Turnpenny Peter D; Pourquié Olivier
Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.
American journal of human genetics 2008;82(6):1334-41.
2008: Rankin Julia; Auer-Grumbach Michaela; Bagg Warwick; Colclough Kevin; Nguyen Thuy Duong; Fenton-May Jane; Hattersley Andrew; Hudson Judith; Jardine Philip; Josifova Dragana; Longman Cheryl; McWilliam Robert; Owen Katharine; Walker Mark; Wehnert Manfred; Ellard Sian
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: Harries Lorna W; Locke Jonathan M; Shields Beverley; Hanley Neil A; Hanley Karen Piper; Steele Anna; Njølstad Pål R; Ellard Sian; Hattersley Andrew T
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: van de Bunt Martijn; Edghill Emma L; Hussain Khalid; Ellard Sian; Gloyn Anna L
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: Kapoor Ritika R; Locke Jonathan; Colclough Kevin; Wales Jerry; Conn Jennifer J; Hattersley Andrew T; Ellard Sian; Hussain Khalid
Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations.
Diabetes 2008;57(6):1659-63.
2008: Tysoe Carolyn; Law Caroline J; Caswell Richard; Clayton Peter; Ellard Sian
Prenatal testing for a novel EBP missense mutation causing X-linked dominant chondrodysplasia punctata.
Prenatal diagnosis 2008;28(5):384-8.
2008: Tammaro P; Flanagan S E; Zadek B; Srinivasan S; Woodhead H; Hameed S; Klimes I; Hattersley A T; Ellard S; Ashcroft F M
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: Murphy Rinki; Ellard Sian; Hattersley Andrew T
Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes.
Nature clinical practice. Endocrinology & metabolism 2008;4(4):200-13.
2008: Ellard S; Bellanné-Chantelot C; Hattersley A T;
Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young.
Diabetologia 2008;51(4):546-53.
2008: Shields Beverley M; Spyer Gill; Slingerland Annabelle S; Knight Bridget A; Ellard Sian; Clark Penelope M; Hauguel-de Mouzon Sylvie; Hattersley Andrew T
Mutations in the glucokinase gene of the fetus result in reduced placental weight.
Diabetes care 2008;31(4):753-7.
2008: Edghill Emma L; Flanagan Sarah E; Patch Ann-Marie; Boustred Chris; Parrish Andrew; Shields Beverley; Shepherd Maggie H; Hussain Khalid; Kapoor Ritika R; Malecki Maciej; MacDonald Michael J; Støy Julie; Steiner Donald F; Philipson Louis H; Bell Graeme I; Hattersley Andrew T; Ellard Sian
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: Owens Martina; Ellard Sian; Vaidya Bijay
Analysis of gross deletions in the MEN1 gene in patients with multiple endocrine neoplasia type 1.
Clinical endocrinology 2008;68(3):350-4.
2008: Rafiq Meena; Flanagan Sarah E; Patch Ann-Marie; Shields Beverley M; Ellard Sian; Hattersley Andrew T;
Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations.
Diabetes care 2008;31(2):204-9.
2008: Edghill Emma L; Oram Richard A; Owens Martina; Stals Karen L; Harries Lorna W; Hattersley Andrew T; Ellard Sian; Bingham Coralie
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: Hussain Khalid; Flanagan Sarah E; Smith Virpi V; Ashworth Michael; Day Michael; Pierro Agostino; Ellard Sian
An ABCC8 gene mutation and mosaic uniparental isodisomy resulting in atypical diffuse congenital hyperinsulinism.
Diabetes 2008;57(1):259-63.
2008: Shield Julian P H; Flanagan Sarah E; Mackay Deborah J; Harries Lorna W; Proks Peter; Girard Christophe; Ashcroft Frances M; Temple I Karen; Ellard Sian
Mosaic paternal uniparental isodisomy and an ABCC8 gene mutation in a patient with permanent neonatal diabetes and hemihypertrophy.
Diabetes 2008;57(1):255-8.
2008: Flanagan Sarah E; Ellard Sian
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: Ahamed Anish; Unnikrishnan Ambika Gopalakrishnan; Pendsey Sanket Sharad; Nampoothiri Sheela; Bhavani Nisha; Praveen Valliyaparambil Pavithran; Kumar Harish; Jayakumar Rohinivilasam Vasukutty; Nair Vasantha; Ellard Sian; Edghill Emma L
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.
2007: de Wet Heidi; Rees Mathew G; Shimomura Kenju; Aittoniemi Jussi; Patch Ann-Marie; Flanagan Sarah E; Ellard Sian; Hattersley Andrew T; Sansom Mark S P; Ashcroft Frances M
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: Tarasov A I; Girard C A; Larkin B; Tammaro P; Flanagan S E; Ellard S; Ashcroft F M
Functional analysis of two Kir6.2 (KCNJ11) mutations, K170T and E322K, causing neonatal diabetes.
Diabetes, obesity & metabolism 2007;9 Suppl 2():46-55.
2007: Patch A M; Flanagan S E; Boustred C; Hattersley A T; Ellard S
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: Ellard S; Thomas K; Edghill E L; Owens M; Ambye L; Cropper J; Little J; Strachan M; Stride A; Ersoy B; Eiberg H; Pedersen O; Shepherd M H; Hansen T; Harries L W; Hattersley A T
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: Støy Julie; Edghill Emma L; Flanagan Sarah E; Ye Honggang; Paz Veronica P; Pluzhnikov Anna; Below Jennifer E; Hayes M Geoffrey; Cox Nancy J; Lipkind Gregory M; Lipton Rebecca B; Greeley Siri Atma W; Patch Ann-Marie; Ellard Sian; Steiner Donald F; Hattersley Andrew T; Philipson Louis H; Bell Graeme I;
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: Shimomura K; Hörster F; de Wet H; Flanagan S E; Ellard S; Hattersley A T; Wolf N I; Ashcroft F; Ebinger F
A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain.
Neurology 2007;69(13):1342-9.
2007: Ellard Sian; Flanagan Sarah E; Girard Christophe A; Patch Ann-Marie; Harries Lorna W; Parrish Andrew; Edghill Emma L; Mackay Deborah J G; Proks Peter; Shimomura Kenju; Haberland Holger; Carson Dennis J; Shield Julian P H; Hattersley Andrew T; Ashcroft Frances M
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: Singh R; Edghill E; Bingham C; Ellard S; Hattersley A T; Harries L W
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: Flanagan Sarah E; Patch Ann-Marie; Mackay Deborah J G; Edghill Emma L; Gloyn Anna L; Robinson David; Shield Julian P H; Temple Karen; Ellard Sian; Hattersley Andrew T
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: Zeggini Eleftheria; Weedon Michael N; Lindgren Cecilia M; Frayling Timothy M; Elliott Katherine S; Lango Hana; Timpson Nicholas J; Perry John R B; Rayner Nigel W; Freathy Rachel M; Barrett Jeffrey C; Shields Beverley; Morris Andrew P; Ellard Sian; Groves Christopher J; Harries Lorna W; Marchini Jonathan L; Owen Katharine R; Knight Beatrice; Cardon Lon R; Walker Mark; Hitman Graham A; Morris Andrew D; Doney Alex S F; McCarthy Mark I; Hattersley Andrew T
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: Codner Ethel; Flanagan Sarah E; Ugarte Francisca; García Hernán; Vidal Teresa; Ellard Sian; Hattersley Andrew T
Sulfonylurea treatment in young children with neonatal diabetes: dealing with hyperglycemia, hypoglycemia, and sick days.
Diabetes care 2007;30(5):e28-9.
2007: Edghill Emma L; Gloyn Anna L; Goriely Anne; Harries Lorna W; Flanagan Sarah E; Rankin Julia; Hattersley Andrew T; Ellard Sian
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: Pearson Ewan R; Boj Sylvia F; Steele Anna M; Barrett Timothy; Stals Karen; Shield Julian P; Ellard Sian; Ferrer Jorge; Hattersley Andrew T
Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene.
PLoS medicine 2007;4(4):e118.
2007: Stanik Juraj; Gasperikova Daniela; Paskova Magdalena; Barak Lubomir; Javorkova Jana; Jancova Emilia; Ciljakova Miriam; Hlava Peter; Michalek Jozef; Flanagan Sarah E; Pearson Ewan; Hattersley Andrew T; Ellard Sian; Klimes Iwar
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: Eller Philipp; Kaser Susanne; Lhotta Karl; Edghill Emma L; Ellard Sian; Ebenbichler Christoph; Patsch Josef R
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: Jenkins Dagan; Bitner-Glindzicz Maria; Thomasson Louise; Malcolm Sue; Warne Stephanie A; Feather Sally A; Flanagan Sarah E; Ellard Sian; Bingham Coralie; Santos Lane; Henkemeyer Mark; Zinn Andrew; Baker Linda A; Wilcox Duncan T; Woolf Adrian S
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: Wolstencroft Elizabeth C; Hanlon Katy; Harries Lorna W; Standen Graham R; Sternberg Alexander; Ellard Sian
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: Kerecuk Larissa; Sajoo Anaar; McGregor Lesley; Berg Jonathan; Haq Mushfequr R; Sebire Neil J; Bingham Coralie; Edghill Emma L; Ellard Sian; Taylor Judy; Rigden Sue; Flinter Frances A; Woolf Adrian S
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.
2007: Saukko Paula M; Ellard Sian; Richards Suzanne H; Shepherd Maggie H; Campbell John L
Patients' understanding of genetic susceptibility testing in mainstream medicine: qualitative study on thrombophilia.
BMC health services research 2007;7():82.
2007: Chan Wai-Man; Andrews Caroline; Dragan Laryssa; Fredrick Douglas; Armstrong Linlea; Lyons Christopher; Geraghty Michael T; Hunter David G; Yazdani Ahmad; Traboulsi Elias I; Pott Jan W R; Gutowski Nicholas J; Ellard Sian; Young Elizabeth; Hanisch Frank; Koc Feray; Schnall Bruce; Engle Elizabeth C
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.
2006: Edghill E L; Bingham C; Slingerland A S; Minton J A L; Noordam C; Ellard S; Hattersley A T
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: Rankin J; Ellard S
The laminopathies: a clinical review.
Clinical genetics 2006;70(4):261-74.
2006: Gloyn Anna L; Ellard Sian
Defining the genetic aetiology of monogenic diabetes can improve treatment.
Expert opinion on pharmacotherapy 2006;7(13):1759-67.
2006: Ellard Sian; Colclough Kevin
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: Wickham C L; Harries L W; Sarsfield P; Joyner M V; Ellard S
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: Pearson Ewan R; Flechtner Isabelle; Njølstad Pål R; Malecki Maciej T; Flanagan Sarah E; Larkin Brian; Ashcroft Frances M; Klimes Iwar; Codner Ethel; Iotova Violeta; Slingerland Annabelle S; Shield Julian; Robert Jean-Jacques; Holst Jens J; Clark Penny M; Ellard Sian; Søvik Oddmund; Polak Michel; Hattersley Andrew T;
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: Harries Lorna W; Ellard Sian; Stride Amanda; Morgan Noel G; Hattersley Andrew T
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: Gloyn Anna L; Diatloff-Zito Catherine; Edghill Emma L; Bellanné-Chantelot Christine; Nivot Sylvie; Coutant Régis; Ellard Sian; Hattersley Andrew T; Robert Jean Jacques
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: Spyer Gill; Ellard Sian; Turnpenny Peter D; Hattersley Andrew T; Vaidya Bijay
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: Edghill Emma L; Dix Rachel J; Flanagan Sarah E; Bingley Polly J; Hattersley Andrew T; Ellard Sian; Gillespie Kathleen M
HLA genotyping supports a nonautoimmune etiology in patients diagnosed with diabetes under the age of 6 months.
Diabetes 2006;55(6):1895-8.
2006: Shimomura Kenju; Girard Christophe A J; Proks Peter; Nazim Joanna; Lippiat Jonathan D; Cerutti Franco; Lorini Renata; Ellard Sian; Hattersley Andrew T; Barbetti Fabrizio; Ashcroft Frances M
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: Proks Peter; Arnold Amanda L; Bruining Jan; Girard Christophe; Flanagan Sarah E; Larkin Brian; Colclough Kevin; Hattersley Andrew T; Ashcroft Frances M; Ellard Sian
A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.
Human molecular genetics 2006;15(11):1793-800.
2006: Flanagan S E; Edghill E L; Gloyn A L; Ellard S; Hattersley A T
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: Singh Rinki; Ellard Sian; Hattersley Andrew; Harries Lorna W
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: Gloyn Anna L; Siddiqui Juveria; Ellard Sian
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: Sparrow D B; Chapman G; Wouters M A; Whittock N V; Ellard S; Fatkin D; Turnpenny P D; Kusumi K; Sillence D; Dunwoodie S L
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: Edghill E L; Bingham C; Ellard S; Hattersley A T
Mutations in hepatocyte nuclear factor-1beta and their related phenotypes.
Journal of medical genetics 2006;43(1):84-90.
2006: Ward Kirsten J; Ellard Sian; Yajnik Chittaranjan S; Frayling Timothy M; Hattersley Andrew T; Venigalla Prathyusha N S; Chandak Giriraj R
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.
2005: Harries L W; Bingham Coralie; Bellanne-Chantelot Christine; Hattersley A T; Ellard Sian
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: Stride Amanda; Ellard Sian; Clark Penny; Shakespeare Lynette; Salzmann Maurice; Shepherd Maggie; Hattersley Andrew T
Beta-cell dysfunction, insulin sensitivity, and glycosuria precede diabetes in hepatocyte nuclear factor-1alpha mutation carriers.
Diabetes care 2005;28(7):1751-6.
2005: Schnyder Sabine; Mullis Primus E; Ellard Sian; Hattersley Andrew T; Flück Christa E
Genetic testing for glucokinase mutations in clinically selected patients with MODY: a worthwhile investment.
Swiss medical weekly : official journal of the Swiss Society of Infectious Diseases, the Swiss Society of Internal Medicine, the Swiss Society of Pneumology 2005;135(23-24):352-6.
2005: Klupa T; Edghill E L; Nazim J; Sieradzki J; Ellard S; Hattersley A T; Malecki M T
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: Pearson E R; Pruhova S; Tack C J; Johansen A; Castleden H A J; Lumb P J; Wierzbicki A S; Clark P M; Lebl J; Pedersen O; Ellard S; Hansen T; Hattersley A T
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: Gloyn Anna L; Reimann Frank; Girard Christophe; Edghill Emma L; Proks Peter; Pearson Ewan R; Temple I Karen; Mackay Deborah J G; Shield Julian P H; Freedenberg Debra; Noyes Kathryn; Ellard Sian; Ashcroft Frances M; Gribble Fiona M; Hattersley Andrew T
Relapsing diabetes can result from moderately activating mutations in KCNJ11.
Human molecular genetics 2005;14(7):925-34.
2005: Gloyn Anna L; Odili Stella; Zelent Dorothy; Buettger Carol; Castleden Harriet A J; Steele Anna M; Stride Amanda; Shiota Chyio; Magnuson Mark A; Lorini Renata; d'Annunzio Giuseppe; Stanley Charles A; Kwagh Jae; van Schaftingen Emile; Veiga-da-Cunha Maria; Barbetti Fabrizio; Dunten Pete; Han Yi; Grimsby Joseph; Taub Rebecca; Ellard Sian; Hattersley Andrew T; Matschinsky Franz M
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: Codner Ethel; Flanagan Sarah; Ellard Sian; García Hernán; Hattersley Andrew T
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: Ellard S; Hattersley A T; Brewer C M; Vaidya B
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: Harries L W; Wickham C L; Evans J C; Rule S A; Joyner M V; Ellard S
Analysis of haematopoietic chimaerism by quantitative real-time polymerase chain reaction.
Bone marrow transplantation 2005;35(3):283-90.
2004: Edghill Emma L; Gloyn Anna L; Gillespie Kathleen M; Lambert A Paul; Raymond Neil T; Swift Peter G; Ellard Sian; Gale Edwin A M; Hattersley Andrew T
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: Gloyn Anna L; Cummings Elizabeth A; Edghill Emma L; Harries Lorna W; Scott Rachel; Costa Teresa; Temple I Karen; Hattersley Andrew T; Ellard Sian
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: Whittock N V; Ellard S; Duncan J; de Die-Smulders C E M; Vles J S H; Turnpenny P D
Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations.
Clinical genetics 2004;66(1):67-72.
2004: Vaidya Bijay; Campbell Viv; Tripp John H; Spyer Gill; Hattersley Andrew T; Ellard Sian
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: Whittock Neil V; Sparrow Duncan B; Wouters Merridee A; Sillence David; Ellard Sian; Dunwoodie Sally L; Turnpenny Peter D
Mutated MESP2 causes spondylocostal dysostosis in humans.
American journal of human genetics 2004;74(6):1249-54.
2004: Pearson Ewan R; Badman Michael K; Lockwood Christopher R; Clark Penelope M; Ellard Sian; Bingham Coralie; Hattersley Andrew T
Contrasting diabetes phenotypes associated with hepatocyte nuclear factor-1alpha and -1beta mutations.
Diabetes care 2004;27(5):1102-7.
2004: Harries L W; Ellard S; Jones R W A; Hattersley A T; Bingham C
Abnormal splicing of hepatocyte nuclear factor-1 beta in the renal cysts and diabetes syndrome.
Diabetologia 2004;47(5):937-42.
2004: Gloyn Anna L; Pearson Ewan R; Antcliff Jennifer F; Proks Peter; Bruining G Jan; Slingerland Annabelle S; Howard Neville; Srinivasan Shubha; Silva José M C L; Molnes Janne; Edghill Emma L; Frayling Timothy M; Temple I Karen; Mackay Deborah; Shield Julian P H; Sumnik Zdenek; van Rhijn Adrian; Wales Jerry K H; Clark Penelope; Gorman Shaun; Aisenberg Javier; Ellard Sian; Njølstad Pål R; Ashcroft Frances M; Hattersley Andrew T
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: Harries Lorna W; Hattersley Andrew T; Ellard Sian
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: Owen Katharine R; Donohoe Mollie; Ellard Sian; Clarke Tom J; Nicholls Anthony J; Hattersley Andrew T; Bingham Coralie
Mesangiocapillary glomerulonephritis type 2 associated with familial partial lipodystrophy (Dunnigan-Kobberling syndrome).
Nephron. Clinical practice 2004;96(2):c35-8.
2004: Ellard Sian
Multiple endocrine neoplasia types 1 and 2.
Methods in molecular medicine 2004;92():267-83.
2003: Shepherd Maggie; Pearson Ewan R; Houghton Jane; Salt Gill; Ellard Sian; Hattersley Andrew T
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: Thomson K L; Gloyn A L; Colclough K; Batten M; Allen L I S; Beards F; Hattersley A T; Ellard S
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: Whittock Neil V; Izatt Louise; Mann Anuska; Homfray Tessa; Bennett Christopher; Mansour Sahar; Hurst Jane; Fryer Alan; Saggar Anand K; Barwell Julian G; Ellard Sian; Clayton Peter T
Novel mutations in X-linked dominant chondrodysplasia punctata (CDPX2).
The Journal of investigative dermatology 2003;121(4):939-42.
2003: Owen Katharine R; Donohoe Mollie; Ellard Sian; Hattersley Andrew T
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: Gloyn Anna L; Noordam Kees; Willemsen Michèl A A P; Ellard Sian; Lam Wayne W K; Campbell Ian W; Midgley Paula; Shiota Chyio; Buettger Carol; Magnuson Mark A; Matschinsky Franz M; Hattersley Andrew T
Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations.
Diabetes 2003;52(9):2433-40.
2003: Bohn Silvia; Thomas Heike; Turan Gülüzar; Ellard Sian; Bingham Coralie; Hattersley Andrew T; Ryffel Gerhart U
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: Whittock Neil V; Turnpenny Peter D; Tuerlings Joep; Ellard Sian
Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis.
Prenatal diagnosis 2003;23(7):575-9.
2003: Owen Katharine R; Stride Amanda; Ellard Sian; Hattersley Andrew T
Etiological investigation of diabetes in young adults presenting with apparent type 2 diabetes.
Diabetes care 2003;26(7):2088-93.
2003: Turnpenny P D; Whittock N; Duncan J; Dunwoodie S; Kusumi K; Ellard S
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: Bingham Coralie; Ellard Sian; van't Hoff William G; Simmonds H Anne; Marinaki Anthony M; Badman Michael K; Winocour Peter H; Stride Amanda; Lockwood Christopher R; Nicholls Anthony J; Owen Katharine R; Spyer Ghislaine; Pearson Ewan R; Hattersley Andrew T
Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation.
Kidney international 2003;63(5):1645-51.
2003: Frayling Timothy M; Lindgren Cecilia M; Chevre Jean Claude; Menzel Stephan; Wishart Marie; Benmezroua Yamina; Brown Alison; Evans Julie C; Rao Pamidghantam Subba; Dina Christian; Lecoeur Cécile; Kanninen Timo; Almgren Peter; Bulman Michael P; Wang Youxiang; Mills James; Wright-Pascoe Rosemarie; Mahtani Melanie M; Prisco Francesco; Costa Angels; Cognet Ignacio; Hansen Torben; Pedersen Oluf; Ellard Sian; Tuomi Tiinamaija; Groop Leif C; Froguel Philippe; Hattersley Andrew T; Vaxillaire Martine
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: Lambert A Paul; Ellard Sian; Allen Lisa I S; Gallen Ian W; Gillespie Kathleen M; Bingley Polly J; Hattersley Andrew T
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: Ferguson Stewart C; Deary Ian J; Perros Petros; Evans Julie C; Ellard Sian; Hattersley Andrew T; Frier Brian M
Apolipoprotein-e influences aspects of intellectual ability in type 1 diabetes.
Diabetes 2003;52(1):145-8.
2003: Wickham C L; Armitage H; Joyner M V; Sarsfield P; Boyce M; Wilkins B S; Jones D B; Ellard S
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.
2002: Waller Simon C; Rees Lesley; Woolf Adrian S; Ellard Sian; Pearson Ewan R; Hattersley Andrew T; Bingham Coralie
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: Stride Amanda; Shepherd Maggie; Frayling Timothy M; Bulman Mike P; Ellard Sian; Hattersley Andrew T
Intrauterine hyperglycemia is associated with an earlier diagnosis of diabetes in HNF-1alpha gene mutation carriers.
Diabetes care 2002;25(12):2287-91.
2002: Thomas Heike; Badenberg Britta; Bulman Michael; Lemm Ira; Lausen Jörn; Kind Lucy; Roosen Simone; Ellard Sian; Hattersley Andrew T; Ryffel Gerhart U
Evidence for haploinsufficiency of the human HNF1alpha gene revealed by functional characterization of MODY3-associated mutations.
Biological chemistry 2002;383(11):1691-700.
2002: Bulman M P; Harries L W; Hansen T; Shepherd M; Kelly W F; Hattersley A T; Ellard S
Abnormal splicing of hepatocyte nuclear factor 1 alpha in maturity-onset diabetes of the young.
Diabetologia 2002;45(10):1463-7.
2002: Owen K R; Shepherd M; Stride A; Ellard S; Hattersley A T
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: Gloyn Anna L; Ellard Sian; Shepherd Maggie; Howell Rodney T; Parry Elizabeth M; Jefferson Andrew; Levy Elaine R; Hattersley Andrew T
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: Turner Jeremy J O; Leotlela Poloko D; Pannett Anna A J; Forbes Simon A; Bassett J H Duncan; Harding Brian; Christie Paul T; Bowen-Jones David; Ellard Sian; Hattersley Andrew; Jackson Charles E; Pope Richard; Quarrell Oliver W; Trembath Richard; Thakker Rajesh V
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: Bingham Coralie; Ellard Sian; Cole Trevor R P; Jones Katrin E; Allen Lisa I S; Goodship Judith A; Goodship Timothy H J; Bakalinova-Pugh Daniela; Russell Gavin I; Woolf Adrian S; Nicholls Anthony J; Hattersley Andrew T
Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations.
Kidney international 2002;61(4):1243-51.
2002: Gloyn A L; Ellard S; Shield J P; Temple I K; Mackay D J G; Polak M; Barrett T; Hattersley A T
Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes.
Diabetologia 2002;45(2):290.
2001: Kolatsi-Joannou M; Bingham C; Ellard S; Bulman M P; Allen L I; Hattersley A T; Woolf A S
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: Thomas H; Jaschkowitz K; Bulman M; Frayling T M; Mitchell S M; Roosen S; Lingott-Frieg A; Tack C J; Ellard S; Ryffel G U; Hattersley A T
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: Bingham C; Ellard S; Nicholls A J; Pennock C A; Allen J; James A J; Satchell S C; Salzmann M B; Hattersley A T
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: Evans J C; Frayling T M; Cassell P G; Saker P J; Hitman G A; Walker M; Levy J C; O'Rahilly S; Rao P V; Bennett A J; Jones E C; Menzel S; Prestwich P; Simecek N; Wishart M; Dhillon R; Fletcher C; Millward A; Demaine A; Wilkin T; Horikawa Y; Cox N J; Bell G I; Ellard S; McCarthy M I; Hattersley A T
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: Kousta E; Ellard S; Allen L I; Saker P J; Huxtable S J; Hattersley A T; McCarthy M I
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: Shepherd M; Ellis I; Ahmad A M; Todd P J; Bowen-Jones D; Mannion G; Ellard S; Sparkes A C; Hattersley A T
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: Frayling T M; Evans J C; Bulman M P; Pearson E; Allen L; Owen K; Bingham C; Hannemann M; Shepherd M; Ellard S; Hattersley A T
beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors.
Diabetes 2001;50 Suppl 1():S94-100.
2001: Pearson E R; Velho G; Clark P; Stride A; Shepherd M; Frayling T M; Bulman M P; Ellard S; Froguel P; Hattersley A T
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: Bingham C; Bulman M P; Ellard S; Allen L I; Lipkin G W; Hoff W G; Woolf A S; Rizzoni G; Novelli G; Nicholls A J; Hattersley A T
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: Wickham C L; Sarsfield P; Joyner M V; Jones D B; Ellard S; Wilkins B
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: Ellard S
Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young.
Human mutation 2000;16(5):377-85.
2000: Ellard S; Bulman M P; Frayling T M; Shepherd M; Hattersley A T
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: Wickham C L; Joyner M V; Lynas C; Ellard S
Detection of clonal B-cell populations using fluorescently labeled nucleotides.
BioTechniques 2000;29(2):215-8.
2000: Evans J C; Frayling T M; Ellard S; Gutowski N J
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: Wickham C L; Lynas C; Ellard S
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: Wild W; Pogge von Strandmann E; Nastos A; Senkel S; Lingott-Frieg A; Bulman M; Bingham C; Ellard S; Hattersley A T; Ryffel G U
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: Bulman M P; Kusumi K; Frayling T M; McKeown C; Garrett C; Lander E S; Krumlauf R; Hattersley A T; Ellard S; Turnpenny P D
Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis.
Nature genetics 2000;24(4):438-41.
2000: Bingham C; Ellard S; Allen L; Bulman M; Shepherd M; Frayling T; Berry P J; Clark P M; Lindner T; Bell G I; Ryffel G U; Nicholls A J; Hattersley A T
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: Wickham C L; Boyce M; Joyner M V; Sarsfield P; Wilkins B S; Jones D B; Ellard S
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: Ellard S; Beards F; Allen L I; Shepherd M; Ballantyne E; Harvey R; Hattersley A T
A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria.
Diabetologia 2000;43(2):250-3.
2000: Frayling T M; McCarthy M I; Walker M; Levy J C; O'Rahilly S; Hitman G A; Rao P V; Bennett A J; Jones E C; Menzel S; Ellard S; Hattersley A T
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: Frayling T M; Walker M; McCarthy M I; Evans J C; Allen L I; Lynn S; Ayres S; Millauer B; Turner C; Turner R C; Sampson M J; Hitman G A; Ellard S; Hattersley A T
Parent-offspring trios: a resource to facilitate the identification of type 2 diabetes genes.
Diabetes 1999;48(12):2475-9.
1999: Turnpenny P D; Bulman M P; Frayling T M; Abu-Nasra T K; Garrett C; Hattersley A T; Ellard S
A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3.
American journal of human genetics 1999;65(1):175-82.
1999: Ellard S; Bulman M P; Frayling T M; Allen L I; Dronsfield M J; Tack C J; Hattersley A T
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: Hattersley A T; Beards F; Ballantyne E; Appleton M; Harvey R; Ellard S
Mutations in the glucokinase gene of the fetus result in reduced birth weight.
Nature genetics 1998;19(3):268-70.
1998: Beards F; Frayling T; Bulman M; Horikawa Y; Allen L; Appleton M; Bell G I; Ellard S; Hattersley A T
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: Matyka K A; Beards F; Appleton M; Ellard S; Hattersley A; Dunger D B
Genetic testing for maturity onset diabetes of the young in childhood hyperglycaemia.
Archives of disease in childhood 1998;78(6):552-4.
1998: Frayling T; Ellard S; Grove J; Walker M; Hattersley A T
C282Y mutation in HFE (haemochromatosis) gene and type 2 diabetes.
Lancet 1998;351(9120):1933-4.
1997: Frayling T M; Bulman M P; Appleton M; Hattersley A T; Ellard S
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: Bulman M P; Dronsfield M J; Frayling T; Appleton M; Bain S C; Ellard S; Hattersley A T
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: Frayling T M; Bulamn M P; Ellard S; Appleton M; Dronsfield M J; Mackie A D; Baird J D; Kaisaki P J; Yamagata K; Bell G I; Bain S C; Hattersley A T
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.

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