Boodhansingh K - Search Results

1

Clinical and Molecular Characterization of Hyperinsulinism in Kabuki Syndrome.

Rosenfeld E, Mitteer LM, Boodhansingh K, Sanders VR, McKnight H, De Leon DD. Rosenfeld E, et al. Among authors: boodhansingh k. J Endocr Soc. 2024 May 21;8(7):bvae101. doi: 10.1210/jendso/bvae101. eCollection 2024 May 23. J Endocr Soc. 2024. PMID: 38859884 Free PMC article.

2

Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome.

Kalish JM, Boodhansingh KE, Bhatti TR, Ganguly A, Conlin LK, Becker SA, Givler S, Mighion L, Palladino AA, Adzick NS, De León DD, Stanley CA, Deardorff MA. Kalish JM, et al. Among authors: boodhansingh ke. J Med Genet. 2016 Jan;53(1):53-61. doi: 10.1136/jmedgenet-2015-103394. Epub 2015 Nov 6. J Med Genet. 2016. PMID: 26545876 Free PMC article.

3

Clinical heterogeneity of hyperinsulinism due to HNF1A and HNF4A mutations.

Tung JY, Boodhansingh K, Stanley CA, De León DD. Tung JY, et al. Among authors: boodhansingh k. Pediatr Diabetes. 2018 Aug;19(5):910-916. doi: 10.1111/pedi.12655. Epub 2018 Mar 1. Pediatr Diabetes. 2018. PMID: 29493090 Free PMC article.

4

Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency.

Gibson CE, Boodhansingh KE, Li C, Conlin L, Chen P, Becker SA, Bhatti T, Bamba V, Adzick NS, De Leon DD, Ganguly A, Stanley CA. Gibson CE, et al. Among authors: boodhansingh ke. Horm Res Paediatr. 2018;89(6):413-422. doi: 10.1159/000488347. Epub 2018 Jun 14. Horm Res Paediatr. 2018. PMID: 29902804 Free PMC article.

5

Novel dominant K_ATP channel mutations in infants with congenital hyperinsulinism: Validation by in vitro expression studies and in vivo carrier phenotyping.

Boodhansingh KE, Kandasamy B, Mitteer L, Givler S, De Leon DD, Shyng SL, Ganguly A, Stanley CA. Boodhansingh KE, et al. Am J Med Genet A. 2019 Nov;179(11):2214-2227. doi: 10.1002/ajmg.a.61335. Epub 2019 Aug 28. Am J Med Genet A. 2019. PMID: 31464105 Free PMC article.

6

Case Report: Two Distinct Focal Congenital Hyperinsulinism Lesions Resulting From Separate Genetic Events.

Rosenfeld E, Mitteer L, Boodhansingh K, Becker SA, McKnight H, Boyajian L, Ackermann AM, Kalish JM, Bhatti TR, States LJ, Adzick NS, Lord K, De León DD. Rosenfeld E, et al. Among authors: boodhansingh k. Front Pediatr. 2021 Jul 16;9:699129. doi: 10.3389/fped.2021.699129. eCollection 2021. Front Pediatr. 2021. PMID: 34336745 Free PMC article.

7

Localized islet nuclear enlargement hyperinsulinism (LINE-HI) due to ABCC8 and GCK mosaic mutations.

Boodhansingh KE, Yang Z, Li C, Chen P, Lord K, Becker SA, States LJ, Adzick NS, Bhatti T, Shyng SL, Ganguly A, Stanley CA, De Leon DD. Boodhansingh KE, et al. Eur J Endocrinol. 2022 Jun 27;187(2):301-313. doi: 10.1530/EJE-21-1095. Print 2022 Aug 1. Eur J Endocrinol. 2022. PMID: 35674212 Free PMC article.

8

Mosaic GLUD1 Mutations Associated with Hyperinsulinism Hyperammonemia Syndrome.

Boodhansingh KE, Rosenfeld E, Lord K, Adzick NS, Bhatti T, Ganguly A, De Leon DD, Stanley CA. Boodhansingh KE, et al. Horm Res Paediatr. 2022;95(5):492-498. doi: 10.1159/000526203. Epub 2022 Aug 11. Horm Res Paediatr. 2022. PMID: 35952631 Free PMC article.

9

Phenotypic Characterization of Congenital Hyperinsulinism Due to Novel Activating Glucokinase Mutations.

Li C, Juliana CA, Yuan Y, Li M, Lu M, Chen P, Boodhansingh KE, Doliba NM, Bhatti TR, Adzick NS, Stanley CA, De León DD. Li C, et al. Among authors: boodhansingh ke. Diabetes. 2023 Dec 1;72(12):1809-1819. doi: 10.2337/db23-0465. Diabetes. 2023. PMID: 37725835 Free PMC article.

10

Novel Hypoglycemia Phenotype in Congenital Hyperinsulinism Due to Dominant Mutations of Uncoupling Protein 2.

Ferrara CT, Boodhansingh KE, Paradies E, Fiermonte G, Steinkrauss LJ, Topor LS, Quintos JB, Ganguly A, De Leon DD, Palmieri F, Stanley CA. Ferrara CT, et al. J Clin Endocrinol Metab. 2017 Mar 1;102(3):942-949. doi: 10.1210/jc.2016-3164. J Clin Endocrinol Metab. 2017. PMID: 27967291 Free PMC article.

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