1,347 results on '"Ellard, S."'
Search Results
52. Abnormal splicing of hepatocyte nuclear factor-1 beta in the renal cysts and diabetes syndrome
53. Quantitation of cyclin D1 over-expression using competitive fluorescent reverse transcription polymerase chain reaction: A tool for the differential diagnosis of mantle cell lymphoma
54. MOLECULAR GENETIC STUDIES OF NEURODEGENERATIVE DISEASE
55. Neonatal diabetes in premature infants: O56
56. Neonatal diabetes in Ukraine: O55
57. Atypical phenotype associated with reported GCK exon 10 deletions: clinical judgement is needed alongside appropriate genetic investigations
58. Clinical activity of abiraterone acetate in patients with metastatic castration-resistant prostate cancer progressing after enzalutamide
59. Biallelic PDX1 (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiency
60. Time to reconsider? Reassessment of diagnosis in long duration Type 1 diabetes with urinary C-peptide creatinine ratio and antibodies identifies people with alternate diagnoses: A72 (P110)
61. Low prevalence of diabetes complications after 48 years of mild hyperglycaemia in patients with glucokinase mutations supports current glycaemic targets for diabetes managmenet: A70 (P391)
62. A population-based approach to genetic testing defines the prevalence of maturity onset diabetes of the young (MODY) in patients with diabetes diagnosed under 30 years as 3%: A68 (P436)
63. Prevalence of non-Type 1 diabetes in paediatric diabetes: A67 (P435)
64. The first prospective study of treatment change in transcription factor maturity onset diabetes of the young (MODY): impact on glycaemic control and quality of life: A69 (P434)
65. Use of high sensitivity C-reactive protein and DG9-glycan index for differential diagnosis of maturity-onset diabetes of the young due to HNF1A mutations in young adults: A71 (P108)
66. Targeted screening for Glucokinase mutations in pregnancy allows us to find half of the missing cases of glucokinase monogenic diabetes: the Atlantic Diabetes in Pregnancy cohort: A29 (P525)
67. Do genetic diabetes nurses make a difference? A 10 year evaluation of increasing knowledge of monogenic diabetes through a national network: A21 (P300)
68. HNF1B deletions in patients with young-onset diabetes but no known renal disease
69. Abnormal splicing of hepatocyte nuclear factor 1 alpha in maturity-onset diabetes of the young
70. Multiple endocrine neoplasia type 1Burin from Mauritius: A novel MEN 1 mutation1
71. Outcome of a 2-Year Search for Neonatal Diabetes in Singapore.
72. Successful sulfonylurea treatment of a neonate with neonatal diabetes mellitus due to a novel missense mutation, p.P1199L, in the ABCC8 gene
73. A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria
74. Prevalence of MODY among diabetic children and adolescents without islet autoantibodies in Sweden, the BDD study: O/6/THU/08
75. Clinical and genetic heterogeneity of neonatal diabetes in Chile: O/6/THU/05
76. Neurogenin Three deficiency: insights into human pancreatic development from rare paediatric patients: O/6/THU/03
77. Pseudohypoaldosteronism type 2 presenting with hypertension and hyperkalaemia due to a novel mutation in the WNK4 gene
78. JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome
79. Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemia
80. Effective treatment of diabetes caused by activating ABCC8/SUR1 mutation with glimepiride
81. 6q24 Transient Neonatal Diabetes Mellitus-16 years of data collection
82. Integration of biomarkers and clinical characteristics provides the best method of identifying patients with MODY: A31 (P48)
83. Urine C-peptide creatinine ratio is a noninvasive tool to identify MODY and Type 2 diabetes in children: A16 (P386)
84. The first case of fetal genetic testing to guide insulin treatment in gestational diabetes: A17 (P158)
85. Urinary C-peptide creatinine ratio is a non-invasive measure of endogenous insulin secretion to identify MODY from Type 1 in paediatric diabetes: O/6/FRI/05
86. Monogenic diabetes, renal dysplasia and hypopituitarism: a patient with a HNF1A mutation
87. P.11 The phenotype in E410K Beta-tubulin isotype 3 mutations
88. 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
89. Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia
90. Microvascular complication risk in patients with 50 years of moderate hyperglycaemia: are target ranges for glycaemic control appropriate?: A77 (P506)
91. Is HNF1B really a MODY gene?: A64 (P430)
92. Should I test this patient for maturity onset diabetes of the young? A clinical prediction model to determine the probability of maturity onset diabetes of the young: A63 (P433)
93. Not always ‘Exactly what it says on the tin’: clinical judgement is needed alongside appropriate genetic investigations: A32 (P205)
94. High sensitivity c-reactive protein can be used as a biomarker to identify patients with HNF1A maturity onset diabetes of the young: A6 (P136)
95. A phase II study of sunitinib in patients with recurrent epithelial ovarian and primary peritoneal carcinoma: an NCIC Clinical Trials Group Study
96. Biallelic variants in PPP1R13L cause paediatric dilated cardiomyopathy
97. 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
98. Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia
99. Monogenic diabetes in infants: time to extend genetic testing beyond the first 6 months of life?: O/5/FRI/01
100. Using clinical criteria to improve the use of genetic testing in diabetes: O/5/FRI/02
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