Familial hyperinsulinism with apparent autosomal dominant inheritance: Clinical and genetic differences from the autosomal recessive variant-Reference-Cited by-同舟云学术

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Familial hyperinsulinism with apparent autosomal dominant inheritance: Clinical and genetic differences from the autosomal recessive variant

Published:1998-01 Issue:1 Volume:132 Page:9-14
ISSN:0022-3476
Container-title:The Journal of Pediatrics
language:en
Short-container-title:The Journal of Pediatrics

Author:

Thornton Paul S.,Satin-Smith Marta S.,Herold Kevan,Glaser Benjamin,Chiu Ken C.,Nestorowicz Ann,Permutt M.Alan,Baker Lester,Stanley Charles A.

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology, and Child Health

Reference28 articles.

1. Persistent hyperinsulinemic hypoglycemia of infancy (“nesidioblastosis”): autosomal recessive inheritance in 7 pedigrees;Glaser;Am J Med Genet,1990

2. Nesidioblastosis: evidence for autosomal recessive inheritance;Woolf;Arch Dis Child,1991

3. Familial and sporadic hyperinsulinism: histopathology and segregation analysis support a single autosomal recessive disorder;Thornton;J Pediatr,1991

4. Familial hyperinsulinism maps to human chromosome 11p 14-15, 30 cM centromeric to the insulin gene;Glaser;Nat Genet,1994

5. Homozygosity mapping to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy;Thomas;Am J Hum Genet,1995

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2. Congenital Hyperinsulinism: An Historical Perspective;Hormone Research in Paediatrics;2022

3. Molecular mechanisms of β-cell dysfunction and death in monogenic forms of diabetes;Pancreatic ß-Cell Biology in Health and Disease;2021

4. Heterozygous Insulin Receptor (INSR) Mutation Associated with Neonatal Hyperinsulinemic Hypoglycaemia and Familial Diabetes Mellitus: Case Series;Journal of Clinical Research in Pediatric Endocrinology;2020-11-25

5. Congenital Hyperinsulinemic Hypoglycemia and Hyperammonemia due to Pathogenic Variants in GLUD1;The Indian Journal of Pediatrics;2019-05-22

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