Ngā hua rapu - Sian Ellard

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

    Hepatocyte nuclear factor 1 alpha (HNF-1?) mutations in maturity-onset diabetes of the young mā Sian Ellard

    I whakaputaina 2000
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  2. 2
    Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (<i>HNF1A</i>) and 4 alpha (<i>HNF4A</i>) in maturity-onset diabetes of the young

    Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (<i>HNF1A</i>) and 4 alpha (<i>HNF4A</i>) in maturity-onset diabetes of the young mā Sian Ellard, Kevin Colclough

    I whakaputaina 2006
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    Artigo
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  3. 3
    Rapid genomic testing for critically ill children: time to become standard of care?

    Rapid genomic testing for critically ill children: time to become standard of care? mā Zornitza Stark, Sian Ellard

    I whakaputaina 2021
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  4. 4
    Diabetes Mellitus in Neonates and Infants: Genetic Heterogeneity, Clinical Approach to Diagnosis, and Therapeutic Options

    Diabetes Mellitus in Neonates and Infants: Genetic Heterogeneity, Clinical Approach to Diagnosis, and Therapeutic Options mā Oscar Rubio‐Cabezas, Sian Ellard

    I whakaputaina 2013
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  5. 5
    Alagille syndrome: pathogenesis, diagnosis and management

    Alagille syndrome: pathogenesis, diagnosis and management mā Peter D. Turnpenny, Sian Ellard

    I whakaputaina 2011
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  6. 6
    Mutations in the genes encoding the pancreatic beta-cell K<sub>ATP</sub>channel subunits Kir6.2 (<i>KCNJ11</i>) and SUR1 (<i>ABCC8</i>) in diabetes mellitus and hyperinsulinism

    Mutations in the genes encoding the pancreatic beta-cell K<sub>ATP</sub>channel subunits Kir6.2 (<i>KCNJ11</i>) and SUR1 (<i>ABCC8</i>) in diabetes mellitus and hyperinsulinism mā Anna L. Gloyn, Juveria Siddiqui, Sian Ellard

    I whakaputaina 2006
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  7. 7
    Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young

    Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young mā Sian Ellard, Christine Bellanné‐Chantelot, Andrew T. Hattersley

    I whakaputaina 2008
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    Artigo
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  8. 8
    Syndromic Monogenic Diabetes Genes Should Be Tested in Patients With a Clinical Suspicion of Maturity-Onset Diabetes of the Young

    Syndromic Monogenic Diabetes Genes Should Be Tested in Patients With a Clinical Suspicion of Maturity-Onset Diabetes of the Young mā Kevin Colclough, Sian Ellard, Andrew T. Hattersley, Kashyap Patel

    I whakaputaina 2021
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    Artigo
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  9. 9
    Clinical and molecular basis of transient neonatal diabetes mellitus in Brazilian children

    Clinical and molecular basis of transient neonatal diabetes mellitus in Brazilian children mā Crésio Alves, Sarah E. Flanagan, Sian Ellard, Deborah Mackay

    I whakaputaina 2012
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    Artigo
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  10. 10
    <i>JAG1</i> mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome

    <i>JAG1</i> mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome mā Katie Guegan, Karen Stals, Martin Day, Peter D. Turnpenny, Sian Ellard

    I whakaputaina 2011
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    Artigo
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  11. 11
    High-Dose Glibenclamide Can Replace Insulin Therapy Despite Transitory Diarrhea in Early-Onset Diabetes Caused by a Novel R201L Kir6.2 Mutation

    High-Dose Glibenclamide Can Replace Insulin Therapy Despite Transitory Diarrhea in Early-Onset Diabetes Caused by a Novel R201L Kir6.2 Mutation mā Ethel Codner, Sarah E. Flanagan, Sian Ellard, H García, Andrew T. Hattersley

    I whakaputaina 2005
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  12. 12
    Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene

    Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene mā Mônica Andrade Lima Gabbay, Sian Ellard, Elisa De Franco, Regina S. Moisés

    I whakaputaina 2017
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  13. 13
    Mutations in the <i>ABCC8</i> gene encoding the SUR1 subunit of the K<sub>ATP</sub> channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period

    Mutations in the <i>ABCC8</i> gene encoding the SUR1 subunit of the K<sub>ATP</sub> channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes dia... mā Ann‐Marie Patch, Sarah E. Flanagan, Chris Boustred, Andrew T. Hattersley, Sian Ellard

    I whakaputaina 2007
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  14. 14
    Pregnancy outcome in patients with raised blood glucose due to a heterozygous glucokinase gene mutation

    Pregnancy outcome in patients with raised blood glucose due to a heterozygous glucokinase gene mutation mā Gill Spyer, K. M. MacLeod, Maggie Shepherd, Sian Ellard, Andrew T. Hattersley

    I whakaputaina 2008
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  15. 15
    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

    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... mā Lorna W. Harries, Sian Ellard, Amanda Stride, Noel G. Morgan, Andrew T. Hattersley

    I whakaputaina 2006
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  16. 16
    The 0.1% of the Population With Glucokinase Monogenic Diabetes Can Be Recognized by Clinical Characteristics in Pregnancy: The Atlantic Diabetes in Pregnancy Cohort

    The 0.1% of the Population With Glucokinase Monogenic Diabetes Can Be Recognized by Clinical Characteristics in Pregnancy: The Atlantic Diabetes in Pregnancy Cohort mā Ali Chakera, Gill Spyer, Nicola Vincent, Sian Ellard, Andrew T. Hattersley, Fidelma Dunne

    I whakaputaina 2014
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  17. 17
    KATP channel mutations in infants with permanent diabetes diagnosed after 6 months of life

    KATP channel mutations in infants with permanent diabetes diagnosed after 6 months of life mā Oscar Rubio‐Cabezas, Sarah E. Flanagan, Annet Damhuis, Andrew T. Hattersley, Sian Ellard

    I whakaputaina 2011
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  18. 18
    Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory

    Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory mā Richard Caswell, Adam C. Gunning, Martina Owens, Sian Ellard, Caroline F. Wright

    I whakaputaina 2022
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  19. 19
    Maturity-onset diabetes of the young (MODY): how many cases are we missing?

    Maturity-onset diabetes of the young (MODY): how many cases are we missing? mā Beverley M. Shields, Sarah Hicks, Maggie Shepherd, Kevin Colclough, Andrew T. Hattersley, Sian Ellard

    I whakaputaina 2010
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  20. 20
    No Deterioration in Glycemic Control in <i>HNF-1α</i> Maturity-Onset Diabetes of the Young Following Transfer From Long-Term Insulin to Sulphonylureas

    No Deterioration in Glycemic Control in <i>HNF-1α</i> Maturity-Onset Diabetes of the Young Following Transfer From Long-Term Insulin to Sulphonylureas mā Maggie Shepherd, Ewan R. Pearson, Jane Houghton, Gill Salt, Sian Ellard, Andrew T. Hattersley

    I whakaputaina 2003
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