Sian, Ellard: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

Don't use scam websites

1

Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia

Kara K. Osbak, Kevin Colclough, Cecile Saint-Martin, Nicola L. Beer, Christine Bellanné-Chantelot, Sian Ellard, Anna L. Gloyn

Journal:

Year:

2009

Language:

english

File:

PDF, 280 KB

english, 2009

2

ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents

Hattersley, Andrew T., Greeley, Siri A. W., Polak, Michel, Rubio-Cabezas, Oscar, Njølstad, Pål R., Mlynarski, Wojciech, Castano, Luis, Carlsson, Annelie, Raile, Klemens, Chi, Dung V., Ellard, Sian, Cr

Journal:

Pediatric Diabetes

Year:

2018

Language:

english

File:

PDF, 1.34 MB

english, 2018

3

Hepatocyte nuclear factor 1 alpha (HNF-1α) mutations in maturity-onset diabetes of the young

Journal:

Year:

2000

Language:

english

File:

PDF, 260 KB

english, 2000

4

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

Sian Ellard, Kevin Colclough

Journal:

Year:

2006

Language:

english

File:

PDF, 381 KB

english, 2006

5

Update of mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism

Sarah E. Flanagan, Séverine Clauin, Christine Bellanné-Chantelot, Pascale de Lonlay, Lorna W. Harries, Anna L. Gloyn, Sian Ellard

Journal:

Year:

2009

Language:

english

File:

PDF, 276 KB

english, 2009

6

Islet autoantibodies can discriminate maturity-onset diabetes of the young (MODY) from Type 1 diabetes

T. J. McDonald, K. Colclough, R. Brown, B. Shields, M. Shepherd, P. Bingley, A. Williams, A. T. Hattersley, Sian Ellard

Journal:

Diabetic Medicine

Year:

2011

Language:

english

File:

PDF, 121 KB

english, 2011

7

Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase

Amanda J Heslegrave, Ritika R Kapoor, Simon Eaton, Bernadette Chadefaux, Teoman Akcay, Enver Simsek, Sarah E Flanagan, Sian Ellard, Khalid Hussain

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 224 KB

english, 2012

8

Prevalence, Characteristics and Clinical Diagnosis of Maturity Onset Diabetes of the Young Due to Mutations in HNF1A, HNF4A, and Glucokinase: Results From the SEARCH for Diabetes in Youth

Pihoker, Catherine, Gilliam, Lisa K., Ellard, Sian, Dabelea, Dana, Davis, Cralen, Dolan, Lawrence M., Greenbaum, Carla J., Imperatore, Giuseppina, Lawrence, Jean M., Marcovina, Santica M., Mayer-Davis

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2013

Language:

english

File:

PDF, 339 KB

english, 2013

9

HNF1B-associated renal and extra-renal disease—an expanding clinical spectrum

Clissold, Rhian L., Hamilton, Alexander J., Hattersley, Andrew T., Ellard, Sian, Bingham, Coralie

Journal:

Nature Reviews Nephrology (formerly Nature Clinical Practice Nephrology)

Year:

2014

Language:

english

File:

PDF, 1.52 MB

english, 2014

10

Three cases of Wolfram syndrome with different clinical aspects

Çamtosun, Emine, Şıklar, Zeynep, Kocaay, Pınar, Ceylaner, Serdar, Flanagan, Sarah E., Ellard, Sian, Berberoğlu, Merih

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2014

Language:

english

File:

PDF, 396 KB

english, 2014

11

Semi-Automated Unidirectional Sequence Analysis for Mutation Detection in a Clinical Diagnostic Setting

Ellard, Sian, Shields, Beverley, Tysoe, Carolyn, Treacy, Rebecca, Yau, Shu, Mattocks, Christopher, Wallace, Andrew

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2009

Language:

english

File:

PDF, 71.91 MB

english, 2009

12

The role of molecular genetics in the clinical management of sporadic medullary thyroid carcinoma

Fussey, Jonathan Mark, Vaidya, Bijay, Kim, Dae, Clark, Jonathan, Ellard, Sian, Smith, Joel Anthony

Journal:

Clinical Endocrinology

Year:

2019

Language:

english

File:

PDF, 723 KB

english, 2019

13

Absence of Islet Autoantibodies and Modestly Raised Glucose Values at Diabetes Diagnosis Should Lead to Testing for MODY: Lessons From a 5-Year Pediatric Swedish National Cohort Study

Carlsson, Annelie, Shepherd, Maggie, Ellard, Sian, Weedon, Michael, Lernmark, Åke, Forsander, Gun, Colclough, Kevin, Brahimi, Qefsere, Valtonen-Andre, Camilla, Ivarsson, Sten A., Elding Larsson, Helen

Journal:

Year:

2020

Language:

english

File:

PDF, 881 KB

english, 2020

14

Biomonitoring study of a group of workers potentially exposed to traffic fumes

Elizabeth M. Parry, James A. Ballantine, Sian Ellard, W. Emrys Evans, Colette Jones, Naciye Kilic, Rupert I. Lewis

Journal:

Environmental and Molecular Mutagenesis

Year:

1997

Language:

english

File:

PDF, 93 KB

english, 1997

15

Proposed mechanism for a novel insertion/deletion frameshift mutation (I414G415ATCG→CCA) in the hepatocyte nuclear factor 1 alpha (HNF-1α) gene which causes maturity-onset diabetes of the young (MODY)

Sian Ellard, Michael P. Bulman, Timothy M. Frayling, Maggie Shepherd, Andrew T. Hattersley

Journal:

Year:

2000

Language:

english

File:

PDF, 130 KB

english, 2000

16

A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis

Louise Chappell, Shaun Gorman, Fiona Campbell, Sian Ellard, Gillian Rice, Angus Dobbie, Yanick Crow

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 66 KB

english, 2008

17

Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of DLL3, MESP2, HES7, and LFNG

Zoran S. Gucev, Velibor Tasic, Nada Pop-Jordanova, Duncan B. Sparrow, Sally L. Dunwoodie, Sian Ellard, Elizabeth Young, Peter D. Turnpenny

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 148 KB

english, 2010

18

Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations

Ronen Spiegel, Angus Dobbie, Corina Hartman, Liat de Vries, Sian Ellard, Stavit A. Shalev

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 91 KB

english, 2011

19

Use of multicolour chromosome painting to identify chromosomal rearrangements in human lymphocytes exposed to bleomycin: A comparison with conventional cytogenetic analysis of giemsa-stained chromosomes

Dr. Sian Ellard, Elizabeth M. Parry, James M. Parry

Journal:

Environmental and Molecular Mutagenesis

Year:

1995

Language:

english

File:

PDF, 1.03 MB

english, 1995

20

Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism

Anna L. Gloyn, Juveria Siddiqui, Sian Ellard

Journal:

Year:

2006

Language:

english

File:

PDF, 273 KB

english, 2006

21

Response to treatment with rosiglitazone in familial partial lipodystrophy due to a mutation in the LMNA gene

Katharine R. Owen, Mollie Donohoe, Sian Ellard, Andrew T. Hattersley

Journal:

Diabetic Medicine

Year:

2003

Language:

english

File:

PDF, 97 KB

english, 2003

22

Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)

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.

Journal:

The Journal of Investigative Dermatology

Year:

2003

Language:

english

File:

PDF, 402 KB

english, 2003

23

Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1β1

Bingham, Coralie, Ellard, Sian, Allen, Lisa, Bulman, Michael, Shepherd, Maggie, Frayling, Tim, Berry, Peter J, Clark, Penny M, Lindner, Tom, Bell, Graeme I, Ryffel, Gerhart U, Nicholls, Anthony J, Hat

Journal:

Kidney International

Year:

2000

Language:

english

File:

PDF, 771 KB

english, 2000

24

Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations

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., Nichol

Journal:

Kidney International

Year:

2002

Language:

english

File:

PDF, 290 KB

english, 2002

25

Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1β gene mutation

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,

Journal:

Kidney International

Year:

2003

Language:

english

File:

PDF, 116 KB

english, 2003

26

Prenatal testing for a novel EBP missense mutation causing X-linked dominant chondrodysplasia punctata

Carolyn Tysoe, Caroline J. Law, Richard Caswell, Peter Clayton, Sian Ellard

Journal:

Prenatal Diagnosis

Year:

2008

Language:

english

File:

PDF, 288 KB

english, 2008

27

Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis

Neil V. Whittock, Dr Peter D. Turnpenny, Joep Tuerlings, Sian Ellard

Journal:

Prenatal Diagnosis

Year:

2003

Language:

english

File:

PDF, 137 KB

english, 2003

28

A family with a novel TSH receptor activating germline mutation (p.Ala485Val)

Sema Akcurin, Doga Turkkahraman, Carolyn Tysoe, Sian Ellard, Anne De Leener, Gilbert Vassart, Sabine Costagliola

Journal:

European Journal of Pediatrics

Year:

2008

Language:

english

File:

PDF, 885 KB

english, 2008

29

The position of premature termination codons in the hepatocyte nuclear factor −1 beta gene determines susceptibility to nonsense-mediated decay

L. W. Harries, Coralie Bingham, Christine Bellanne-Chantelot, A. T. Hattersley, Sian Ellard

Journal:

Year:

2005

Language:

english

File:

PDF, 455 KB

english, 2005

30

Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes

Janniche Torsvik, Stefan Johansson, Anders Johansen, Jakob Ek, Jayne Minton, Helge Ræder, Sian Ellard, Andrew Hattersley, Oluf Pedersen, Torben Hansen, Anders Molven, Pål R. Njølstad

Journal:

Year:

2010

Language:

english

File:

PDF, 309 KB

english, 2010

31

Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31

Julie Claire Evans, Timothy Mark Frayling, Sian Ellard, Nick J. Gutowski

Journal:

Year:

2000

Language:

english

File:

PDF, 51 KB

english, 2000

32

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

Timothy M. Frayling, Michael P. Bulman, Maggie Appleton, A. T. Hattersley, Sian Ellard

Journal:

Year:

1997

Language:

english

File:

PDF, 36 KB

english, 1997

33

Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatment

Catherine Quinlan, Katie Guegan, Amaka Offiah, Richard O’ Neill, Melanie P. Hiorns, Sian Ellard, Detlef Bockenhauer, William Van’t Hoff, Aoife M. Waters

Journal:

Pediatric Nephrology

Year:

2012

Language:

english

File:

PDF, 206 KB

english, 2012

34

Permanent neonatal diabetes due to activating mutations inABCC8andKCNJ11

Emma L. Edghill, Sarah E. Flanagan, Sian Ellard

Journal:

Reviews in Endocrine & Metabolic Disorders

Year:

2010

Language:

english

File:

PDF, 237 KB

english, 2010

35

The Renal Cysts and Diabetes (RCAD) Syndrome in a Child with Deletion of the Hepatocyte Nuclear Factor-1β Gene

Varun Aggarwal, Sriram Krishnamurthy, Anju Seth, Coralie Bingham, Sian Ellard, Sharmila B. Mukherjee, Satinder Aneja

Journal:

Indian Journal of Pediatrics

Year:

2010

Language:

english

File:

PDF, 165 KB

english, 2010

36

A comparative study of the use of primary Chinese hamster liver cultures and genetically engineered immortal V79 Chinese hamster cell lines expressing rat liver CYP1A1, 1A2 and 2B1 cDNAs in micronucleus assays

Sian Ellard, James M. Parry

Journal:

Year:

1993

Language:

english

File:

PDF, 3.46 MB

english, 1993

37

Premature birth and low birth weight associated with nonautoimmune hyperthyroidism due to an activating thyrotropin receptor gene mutation

Bijay Vaidya, Viv Campbell, John H. Tripp, Gill Spyer, Andrew T. Hattersley, Sian Ellard

Journal:

Clinical Endocrinology

Year:

2004

Language:

english

File:

PDF, 133 KB

english, 2004

38

Analysis of gross deletions in the MEN1 gene in patients with multiple endocrine neoplasia type 1

Martina Owens, Sian Ellard, Bijay Vaidya

Journal:

Clinical Endocrinology

Year:

2008

Language:

english

File:

PDF, 197 KB

english, 2008

39

Germline mutations in the CDKN1B gene encoding p27Kip1 are a rare cause of multiple endocrine neoplasia type 1

Martina Owens, Karen Stals, Sian Ellard, Bijay Vaidya

Journal:

Clinical Endocrinology

Year:

2009

Language:

english

File:

PDF, 82 KB

english, 2009

40

Mutations in the ABCC8 (SUR1 subunit of the KATP channel) gene are associated with a variable clinical phenotype

Tomasz Klupa, Irina Kowalska, Krystyna Wyka, Jan Skupien, Ann-Marie Patch, Sarah E. Flanagan, Anna Noczynska, Malgorzata Arciszewska, Sian Ellard, Andrew T. Hattersley, Jacek Sieradzki, Wojciech Mlyna

Journal:

Clinical Endocrinology

Year:

2009

Language:

english

File:

PDF, 105 KB

english, 2009

41

Congenital hyperinsulinism: marked clinical heterogeneity in siblings with identical mutations in the ABCC8 gene

Ritika R. Kapoor, Sarah E. Flanagan, Sian Ellard, Khalid Hussain

Journal:

Clinical Endocrinology

Year:

2012

Language:

english

File:

PDF, 93 KB

english, 2012

42

Incidence of neonatal diabetes in Austria–calculation based on the Austrian Diabetes Register

Barbara Wiedemann, Edith Schober, Thomas Waldhoer, Julia Koehle, Sarah E Flanagan, Deborah JG Mackay, Elisabeth Steichen, Dagmar Meraner, Lothar-Bernd Zimmerhackl, Andrew T Hattersley, Sian Ellard, Sa

Journal:

Pediatric Diabetes

Year:

2010

Language:

english

File:

PDF, 490 KB

english, 2010

43

Persistently autoantibody negative (PAN) type 1 diabetes mellitus in children

Shihab Hameed, Sian Ellard, Helen J Woodhead, Kristen A Neville, Jan L Walker, Maria E Craig, Taylor Armstrong, Liping Yu, George S Eisenbarth, Andrew T Hattersley, Charles F Verge

Journal:

Pediatric Diabetes

Year:

2011

Language:

english

File:

PDF, 519 KB

english, 2011

44

KCNJ11 activating mutations cause both transient and permanent neonatal diabetes mellitus in Cypriot patients

Yiannis S. Ioannou, Sian Ellard, Andrew Hattersley, Nicos Skordis

Journal:

Pediatric Diabetes

Year:

2011

Language:

english

File:

PDF, 495 KB

english, 2011

45

Neonatal hyperinsulinaemic hypoglycaemia and monogenic diabetes due to a heterozygous mutation of the HNF4A gene

Jennifer J. CONN, Peter J. SIMM, Jeremy J. N. OATS, Alison J. NANKERVIS, Susan E. JACOBS, Sian ELLARD, Andrew T. HATTERSLEY

Journal:

Australian and New Zealand Journal of Obstetrics and Gynaecology

Year:

2009

Language:

english

File:

PDF, 976 KB

english, 2009

46

10.1038/74321

Turnpenny, Peter D., Bulman, Michael P., Kusumi, Kenro, Frayling, Timothy M., McKeown, Carole, Garrett, Christine, Lander, Eric S., Krumlauf, Robb, Hattersley, Andrew T., Ellard, Sian

Journal:

Nature Biotechnology

Year:

2000

Language:

english

File:

PDF, 95 KB

english, 2000

47

10.1038/74307

Turnpenny, Peter D., Bulman, Michael P., Kusumi, Kenro, Frayling, Timothy M., McKeown, Carole, Garrett, Christine, Lander, Eric S., Krumlauf, Robb, Hattersley, Andrew T., Ellard, Sian

Journal:

Nature Genetics

Year:

2000

Language:

english

File:

PDF, 883 KB

english, 2000

48

10.1038/953

Hattersley, Andrew T., Beards, Frances, Ballantyne, Elizabeth, Appleton, Maggie, Harvey, Rod, Ellard, Sian

Journal:

Nature Genetics

Year:

1998

Language:

english

File:

PDF, 51 KB

english, 1998

49

KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features

Gloyn, Anna L, Diatloff-Zito, Catherine, Edghill, Emma L, Bellanné-Chantelot, Christine, Nivot, Sylvie, Coutant, Régis, Ellard, Sian, Hattersley, Andrew T, Robert, Jean Jacques

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 131 KB

english, 2006

50

A conserved tryptophan at the membrane–water interface acts as a gatekeeper for Kir6.2/SUR1 channels and causes neonatal diabetes when mutated

Roope Männikkö, Phillip J. Stansfeld, Alexandra S. Ashcroft, Andrew T. Hattersley, Mark S. P. Sansom, Sian Ellard, Frances M. Ashcroft

Journal:

The Journal of Physiology

Year:

2011

Language:

english

File:

PDF, 795 KB

english, 2011