(Q51561668)

7 April 2018

title

Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism. (English)

1 reference

7 April 2018

single-nucleotide polymorphism

main subject

1 reference

B Glaser

1

0 references

Charles A Stanley

1 reference

ORCID Public Data File 2021

author name string

J Furth

2

1 reference

7 April 2018

C A Stanley

3

1 reference

7 April 2018

L Baker

4

1 reference

7 April 2018

P S Thornton

5

1 reference

7 April 2018

H Landau

6

1 reference

7 April 2018

M A Permutt

7

1 reference

7 April 2018

publication date

1 January 1999

1 reference

7 April 2018

published in

Human Mutation

1 reference

7 April 2018

volume

14

1 reference

7 April 2018

page(s)

23-29

1 reference

7 April 2018

issue

1

1 reference

7 April 2018

Nesidioblastosis of the pancreas: definition of the syndrome and the management of the severe neonatal hyperinsulinaemic hypoglycaemia

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2914%3A1%3C23%3A%3AAID-HUMU3%3E3.0.CO%3B2-%23

Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2914%3A1%3C23%3A%3AAID-HUMU3%3E3.0.CO%3B2-%23

Familial persistent hyperinsulinemic hypoglycemia of infancy and mutations in the sulfonylurea receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2914%3A1%3C23%3A%3AAID-HUMU3%3E3.0.CO%3B2-%23

Persistent hyperinsulinemic hypoglycemia of infancy: Long-term octreotide treatment without pancreatectomy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2914%3A1%3C23%3A%3AAID-HUMU3%3E3.0.CO%3B2-%23

Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2914%3A1%3C23%3A%3AAID-HUMU3%3E3.0.CO%3B2-%23

Recombinant mapping of the familial hyperinsulinism gene to an 0.8 cM region on chromosome 11p15.1 and demonstration of a founder effect in Ashkenazi Jews

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2914%3A1%3C23%3A%3AAID-HUMU3%3E3.0.CO%3B2-%23

Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2914%3A1%3C23%3A%3AAID-HUMU3%3E3.0.CO%3B2-%23

Loss of functional KATP channels in pancreatic beta-cells causes persistent hyperinsulinemic hypoglycemia of infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2914%3A1%3C23%3A%3AAID-HUMU3%3E3.0.CO%3B2-%23

Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2914%3A1%3C23%3A%3AAID-HUMU3%3E3.0.CO%3B2-%23

Genetic heterogeneity in familial hyperinsulinism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2914%3A1%3C23%3A%3AAID-HUMU3%3E3.0.CO%3B2-%23

Adenosine diphosphate as an intracellular regulator of insulin secretion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2914%3A1%3C23%3A%3AAID-HUMU3%3E3.0.CO%3B2-%23

Hyperinsulinism: molecular aetiology of focal disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2914%3A1%3C23%3A%3AAID-HUMU3%3E3.0.CO%3B2-%23

Hyperinsulinism in infants and children

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2914%3A1%3C23%3A%3AAID-HUMU3%3E3.0.CO%3B2-%23

Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2914%3A1%3C23%3A%3AAID-HUMU3%3E3.0.CO%3B2-%23

Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2914%3A1%3C23%3A%3AAID-HUMU3%3E3.0.CO%3B2-%23

Short- and long-term use of octreotide in the treatment of congenital hyperinsulinism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2914%3A1%3C23%3A%3AAID-HUMU3%3E3.0.CO%3B2-%23

Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2914%3A1%3C23%3A%3AAID-HUMU3%3E3.0.CO%3B2-%23

10.1002/(SICI)1098-1004(1999)14:1<23::AID-HUMU3>3.0.CO;2-#

21 January 2018

Identifiers

DOI

1 reference

7 April 2018

PubMed ID

10447255

1 reference

7 April 2018