Shah P - Search Results

1

Biallelic DNAJC3 variants in a neuroendocrine developmental disorder with insulin dysregulation.

Ocansey S, Pullen D, Atkinson P, Clarke A, Hadonou M, Crosby C, Short J, Lloyd IC, Smedley D, Assunta A, Shah P, McEntagart M; Genomics England Research Consortium. Ocansey S, et al. Among authors: shah p. Clin Dysmorphol. 2022 Jan 1;31(1):11-17. doi: 10.1097/MCD.0000000000000397. Clin Dysmorphol. 2022. PMID: 34654017

2

Cenani-Lenz syndactyly in siblings with a novel homozygous LRP4 mutation and recurrent hypoglycaemia.

Steel E, Hurst JA, Cullup T, Calder A, Sivakumar B, Shah P, Wilson LC. Steel E, et al. Among authors: shah p. Clin Dysmorphol. 2020 Apr;29(2):73-80. doi: 10.1097/MCD.0000000000000311. Clin Dysmorphol. 2020. PMID: 31895055

3

Syndromic Forms of Hyperinsulinaemic Hypoglycaemia-A 15-year follow-up Study.

Kostopoulou E, Dastamani A, Güemes M, Clement E, Caiulo S, Shanmugananda P, Dattani M, Gilbert C, Hurst JA, Shah P. Kostopoulou E, et al. Among authors: shah p. Clin Endocrinol (Oxf). 2021 Mar;94(3):399-412. doi: 10.1111/cen.14393. Epub 2021 Jan 31. Clin Endocrinol (Oxf). 2021. PMID: 33345357

4

Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort with hyperinsulinaemic hypoglycaemia.

McGlacken-Byrne SM, Mohammad JK, Conlon N, Gubaeva D, Siersbæk J, Schou AJ, Demirbilek H, Dastamani A, Houghton JAL, Brusgaard K, Melikyan M, Christesen H, Flanagan SE, Murphy NP, Shah P. McGlacken-Byrne SM, et al. Among authors: shah p. Eur J Endocrinol. 2022 Feb 22;186(4):417-427. doi: 10.1530/EJE-21-0897. Eur J Endocrinol. 2022. PMID: 35089870

5

Sotos Syndrome Presenting with Neonatal Hyperinsulinaemic Hypoglycaemia, Extensive Thrombosis, and Multisystem Involvement.

Cerbone M, Clement E, McClatchey M, Dobbin J, Gilbert C, Keane M, Boukhibar L, Williams H, Gagunashvili A, Dattani MT, Hurst J, Shah P. Cerbone M, et al. Among authors: shah p. Horm Res Paediatr. 2019;92(1):64-70. doi: 10.1159/000496545. Epub 2019 Mar 15. Horm Res Paediatr. 2019. PMID: 30879005

6

Persistent hyperinsulinaemic hypoglycaemia in children with Rubinstein-Taybi syndrome.

Welters A, El-Khairi R, Dastamani A, Bachmann N, Bergmann C, Gilbert C, Clement E, Hurst JA, Quercia N, Wasserman JD, Meissner T, Shah P, Kummer S. Welters A, et al. Among authors: shah p. Eur J Endocrinol. 2019 Aug;181(2):121-128. doi: 10.1530/EJE-19-0119. Eur J Endocrinol. 2019. PMID: 31137009

7

Diazoxide-induced pulmonary hypertension in hyperinsulinaemic hypoglycaemia: Recommendations from a multicentre study in the United Kingdom.

Chen SC, Dastamani A, Pintus D, Yau D, Aftab S, Bath L, Swinburne C, Hunter L, Giardini A, Christov G, Senniappan S, Banerjee I, Shaikh MG, Shah P. Chen SC, et al. Among authors: shah p. Clin Endocrinol (Oxf). 2019 Dec;91(6):770-775. doi: 10.1111/cen.14096. Epub 2019 Oct 1. Clin Endocrinol (Oxf). 2019. PMID: 31520536

8

Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management.

Gϋemes M, Rahman SA, Kapoor RR, Flanagan S, Houghton JAL, Misra S, Oliver N, Dattani MT, Shah P. Gϋemes M, et al. Among authors: shah p. Rev Endocr Metab Disord. 2020 Dec;21(4):577-597. doi: 10.1007/s11154-020-09548-7. Rev Endocr Metab Disord. 2020. PMID: 32185602 Free PMC article. Review.

9

Unusual Glycemic Presentations in a Child with a Novel Heterozygous Intragenic INSR Deletion.

Verdecchia F, Akcan N, Dastamani A, Morgan K, Semple RK, Shah P. Verdecchia F, et al. Among authors: shah p. Horm Res Paediatr. 2020;93(6):396-401. doi: 10.1159/000510462. Epub 2020 Oct 9. Horm Res Paediatr. 2020. PMID: 33040071 Free PMC article.

10

When is it best to discontinue diazoxide in children with persistent hyperinsulinaemic hypoglycaemia and negative genetics for K_ATP channel gene variants?

Güemes M, Kostopoulou E, AlYahyaei M, Gilbert C, Shah P. Güemes M, et al. Among authors: shah p. Clin Endocrinol (Oxf). 2022 Feb;96(2):107-113. doi: 10.1111/cen.14581. Epub 2021 Aug 28. Clin Endocrinol (Oxf). 2022. PMID: 34370339

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