47 results on '"Houghton, Jayne A. L."'
Search Results
2. Bringing precision medicine to the management of pregnancy in women with glucokinase-MODY: a study of diagnostic accuracy and feasibility of non-invasive prenatal testing
3. Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism
4. Molecular Characterization and Management of Congenital Hyperinsulinism: A Tertiary Centre Experience
5. Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management
6. Diagnostic Genetic Testing for Monogenic Diabetes and Congenital Hyperinsulinemia
7. Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2or its regulatory elements
8. A type 1 diabetes genetic risk score can discriminate monogenic autoimmunity with diabetes from early-onset clustering of polygenic autoimmunity with diabetes
9. Hyperinsulinemic Hypoglycemia Diagnosed in Childhood Can Be Monogenic
10. Spectrum of neuro-developmental disorders in children with congenital hyperinsulinism due to activating mutations in GLUD1
11. Hyperinsulinemic Hypoglycemia Diagnosed in Childhood Can Be Monogenic.
12. Increased referrals for congenital hyperinsulinism genetic testing in children with trisomy 21 reflects the high burden of non‐genetic risk factors in this group
13. Variation in Glycemic Outcomes in Focal Forms of Congenital Hyperinsulinism—The UK Perspective
14. Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort with hyperinsulinaemic hypoglycaemia
15. PTF1A: Pancreatic and Cerebellar Agenesis
16. Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11
17. Molecular Genetics, Clinical Characteristics, and Treatment Outcomes of KATP-Channel Neonatal Diabetes Mellitus in Vietnam National Children’s Hospital
18. Case Report: Extended Clinical Spectrum of the Neonatal Diabetes With Congenital Hypothyroidism Syndrome
19. Permanent neonatal diabetes due to a novel L105P (c.314T>C; p.Leu105Pro) heterozygous mutation in insulin gene
20. Non-coding variants disrupting a tissue-specific regulatory element in HK1cause congenital hyperinsulinism
21. Case Report: Extended Clinical Spectrum of the Neonatal Diabetes With Congenital Hypothyroidism Syndrome.
22. Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia
23. Noninvasive Fetal Genotyping by Droplet Digital PCR to Identify Maternally Inherited Monogenic Diabetes Variants
24. Update of variants identified in the pancreatic β‐cell K ATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes
25. Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389
26. Molecular Genetics, Clinical Characteristics, and Treatment Outcomes of KATP-Channel Neonatal Diabetes Mellitus in Vietnam National Children's Hospital.
27. Update of variants identified in the pancreatic β‐cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.
28. Congenital hyperinsulinism and evolution to sulfonylurea-responsive diabetes later in life due to a novel homozygous p.L171F ABCC8 mutation
29. An ABCC8 Nonsense Mutation Causing Neonatal Diabetes Through Altered Transcript Expression
30. Clinical Characteristics And Molecular Genetic Analysis Of 22 Patients With Neonatal Diabetes From The South-Eastern Region Of Turkey: Predominance Of Non-K-Atp Channel Mutations
31. Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene
32. The value of in vitro studies in a case of neonatal diabetes with a novel Kir6.2‐W68G mutation
33. Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations
34. The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes.
35. Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation.
36. Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.
37. Spectrum of neuro-developmental disorders in children with congenital hyperinsulinism due to activating mutations in GLUD1
38. The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study.
39. Congenital hyperinsulinism and novel KDM6A duplications -resolving pathogenicity with genome and epigenetic analyses.
40. Spectrum of neuro-developmental disorders in children with congenital hyperinsulinism due to activating mutations in GLUD1.
41. Molecular Genetics, Clinical Characteristics, and Treatment Outcomes of K ATP -Channel Neonatal Diabetes Mellitus in Vietnam National Children's Hospital.
42. Transient Neonatal Diabetes: An Etiologic Clue for the Adult Diabetologist.
43. Diagnostic Genetic Testing for Monogenic Diabetes and Congenital Hyperinsulinemia.
44. A rare case of congenital hyperinsulinism (CHI) due to dual genetic aetiology involving HNF4A and ABCC8.
45. A successful transition to sulfonylurea treatment in male infant with neonatal diabetes caused by the novel abcc8 gene mutation and three years follow-up.
46. Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment.
47. Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man.
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