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Items: 1 to 20 of 224

1.

Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations.

Grand K, Gonzalez-Gandolfi C, Ackermann AM, Aljeaid D, Bedoukian E, Bird LM, De Leon DD, Diaz J, Hopkin RJ, Kadakia SP, Keena B, Klein KO, Krantz I, Leon E, Lord K, McDougall C, Medne L, Skraban CM, Stanley CA, Tarpinian J, Zackai E, Deardorff MA, Kalish JM.

Am J Med Genet A. 2019 Feb 4. doi: 10.1002/ajmg.a.61062. [Epub ahead of print]

PMID:
30719864
2.

Glutamate dehydrogenase: Structure of a hyperinsulinism mutant, corrections to the atomic model, and insights into a regulatory site.

Nassar OM, Li C, Stanley CA, Pettitt BM, Smith TJ.

Proteins. 2019 Jan;87(1):41-50. doi: 10.1002/prot.25620. Epub 2018 Nov 18.

PMID:
30367518
3.

Surgical treatment of congenital hyperinsulinism: Results from 500 pancreatectomies in neonates and children.

Adzick NS, De Leon DD, States LJ, Lord K, Bhatti TR, Becker SA, Stanley CA.

J Pediatr Surg. 2019 Jan;54(1):27-32. doi: 10.1016/j.jpedsurg.2018.10.030. Epub 2018 Oct 5.

PMID:
30343978
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.

Horm Res Paediatr. 2018;89(6):413-422. doi: 10.1159/000488347. Epub 2018 Jun 14.

5.

Clinical heterogeneity of hyperinsulinism due to HNF1A and HNF4A mutations.

Tung JY, Boodhansingh K, Stanley CA, De León DD.

Pediatr Diabetes. 2018 Aug;19(5):910-916. doi: 10.1111/pedi.12655. Epub 2018 Mar 1.

PMID:
29493090
6.

Regulation of KATP Channel Trafficking in Pancreatic β-Cells by Protein Histidine Phosphorylation.

Srivastava S, Li Z, Soomro I, Sun Y, Wang J, Bao L, Coetzee WA, Stanley CA, Li C, Skolnik EY.

Diabetes. 2018 May;67(5):849-860. doi: 10.2337/db17-1433. Epub 2018 Feb 12.

7.

Glutamate Dehydrogenase, a Complex Enzyme at a Crucial Metabolic Branch Point.

Smith HQ, Li C, Stanley CA, Smith TJ.

Neurochem Res. 2019 Jan;44(1):117-132. doi: 10.1007/s11064-017-2428-0. Epub 2017 Oct 27.

PMID:
29079932
8.

Functional and Metabolomic Consequences of KATP Channel Inactivation in Human Islets.

Li C, Ackermann AM, Boodhansingh KE, Bhatti TR, Liu C, Schug J, Doliba N, Han B, Cosgrove KE, Banerjee I, Matschinsky FM, Nissim I, Kaestner KH, Naji A, Adzick NS, Dunne MJ, Stanley CA, De León DD.

Diabetes. 2017 Jul;66(7):1901-1913. doi: 10.2337/db17-0029. Epub 2017 Apr 25.

9.

A severe case of hyperinsulinism due to hemizygous activating mutation of glutamate dehydrogenase.

Barrosse-Antle M, Su C, Chen P, Boodhansingh KE, Smith TJ, Stanley CA, De León DD, Li C.

Pediatr Diabetes. 2017 Dec;18(8):911-916. doi: 10.1111/pedi.12507. Epub 2017 Feb 6.

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.

J Clin Endocrinol Metab. 2017 Mar 1;102(3):942-949. doi: 10.1210/jc.2016-3164. Erratum in: J Clin Endocrinol Metab. 2018 May 1;103(5):2076.

12.

Pharmacological Correction of Trafficking Defects in ATP-sensitive Potassium Channels Caused by Sulfonylurea Receptor 1 Mutations.

Martin GM, Rex EA, Devaraneni P, Denton JS, Boodhansingh KE, DeLeon DD, Stanley CA, Shyng SL.

J Biol Chem. 2016 Oct 14;291(42):21971-21983. Epub 2016 Aug 29.

13.

Permanent Neonatal Diabetes Mellitus.

De León DD, Stanley CA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2008 Feb 8 [updated 2016 Jul 29].

14.

Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.

Wong SY, Beamer LJ, Gadomski T, Honzik T, Mohamed M, Wortmann SB, Brocke Holmefjord KS, Mork M, Bowling F, Sykut-Cegielska J, Koch D, Ackermann A, Stanley CA, Rymen D, Zeharia A, Al-Sayed M, Marquardt T, Jaeken J, Lefeber D, Conrad DF, Kozicz T, Morava E.

J Pediatr. 2016 Aug;175:130-136.e8. doi: 10.1016/j.jpeds.2016.04.021. Epub 2016 May 17.

PMID:
27206562
15.

Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism Disorders.

Stanley CA.

J Clin Endocrinol Metab. 2016 Mar;101(3):815-26. doi: 10.1210/jc.2015-3651. Epub 2016 Feb 23. Review.

16.

Histologic and Molecular Profile of Pediatric Insulinomas: Evidence of a Paternal Parent-of-Origin Effect.

Bhatti TR, Ganapathy K, Huppmann AR, Conlin L, Boodhansingh KE, MacMullen C, Becker S, Ernst LM, Adzick NS, Ruchelli ED, Ganguly A, Stanley CA.

J Clin Endocrinol Metab. 2016 Mar;101(3):914-22. doi: 10.1210/jc.2015-2914. Epub 2016 Jan 12.

17.

Seizures and diagnostic difficulties in hyperinsulinism-hyperammonemia syndrome.

Aka S, Alanay Y, Boodhansingh KE, Stanley CA, Semiz S.

Turk J Pediatr. 2016;58(5):541-544. doi: 10.24953/turkjped.2016.05.014.

18.

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.

J Med Genet. 2016 Jan;53(1):53-61. doi: 10.1136/jmedgenet-2015-103394. Epub 2015 Nov 6.

19.

Biomarkers of Insulin for the Diagnosis of Hyperinsulinemic Hypoglycemia in Infants and Children.

Ferrara C, Patel P, Becker S, Stanley CA, Kelly A.

J Pediatr. 2016 Jan;168:212-9. doi: 10.1016/j.jpeds.2015.09.045. Epub 2015 Oct 17.

PMID:
26490124
20.

High Risk of Diabetes and Neurobehavioral Deficits in Individuals With Surgically Treated Hyperinsulinism.

Lord K, Radcliffe J, Gallagher PR, Adzick NS, Stanley CA, De León DD.

J Clin Endocrinol Metab. 2015 Nov;100(11):4133-9. doi: 10.1210/jc.2015-2539. Epub 2015 Sep 1.

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