PubMed

A novel syndrome of autosomal-dominant hyperinsulinemic hypoglycemia linked to a mutation in the human insulin receptor gene.

Højlund K, Hansen T, Lajer M, Henriksen JE, Levin K, Lindholm J, Pedersen O, Beck-Nielsen H.

Diabetes. 2004 Jun;53(6):1592-8.PMID: 15161766 [PubMed - indexed for MEDLINE]Related articlesFree article

An autosomal dominant form of familial persistent hyperinsulinemic hypoglycemia of infancy, not linked to the sulfonylurea receptor locus.

Kukuvitis A, Deal C, Arbour L, Polychronakos C.

J Clin Endocrinol Metab. 1997 Apr;82(4):1192-4.PMID: 9100595 [PubMed - indexed for MEDLINE]Related articlesFree article

Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations.

Kapoor RR, Locke J, Colclough K, Wales J, Conn JJ, Hattersley AT, Ellard S, Hussain K.

Diabetes. 2008 Jun;57(6):1659-63. Epub 2008 Feb 11.PMID: 18268044 [PubMed - indexed for MEDLINE]Related articlesFree article

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

Thornton PS, Satin-Smith MS, Herold K, Glaser B, Chiu KC, Nestorowicz A, Permutt MA, Baker L, Stanley CA.

J Pediatr. 1998 Jan;132(1):9-14.PMID: 9469993 [PubMed - indexed for MEDLINE]Related articles

Physical exercise-induced hyperinsulinemic hypoglycemia is an autosomal-dominant trait characterized by abnormal pyruvate-induced insulin release.

Otonkoski T, Kaminen N, Ustinov J, Lapatto R, Meissner T, Mayatepek E, Kere J, Sipilä I.

Diabetes. 2003 Jan;52(1):199-204.PMID: 12502513 [PubMed - indexed for MEDLINE]Related articlesFree article

Familial hyperinsulinemia associated with secretion of an abnormal insulin, and coexistence of insulin resistance in the propositus.

Vinik AI, Seino S, Funakoshi A, Schwartz J, Matsumoto M, Schteingart DE, Fu ZZ, Tsai ST.

J Clin Endocrinol Metab. 1986 Apr;62(4):645-52.PMID: 3512591 [PubMed - indexed for MEDLINE]Related articles

Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations.

Pinney SE, MacMullen C, Becker S, Lin YW, Hanna C, Thornton P, Ganguly A, Shyng SL, Stanley CA.

J Clin Invest. 2008 Aug;118(8):2877-86.PMID: 18596924 [PubMed - indexed for MEDLINE]Related articlesFree article

Molecular-genetic analysis and assessment of insulin action and pancreatic beta-cell function.

Elbein SC, Ward WK, Beard JC, Permutt MA.

Diabetes. 1988 Apr;37(4):377-82.PMID: 3288527 [PubMed - indexed for MEDLINE]Related articles

Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family.

Liu M, Ke T, Wang Z, Yang Q, Chang W, Jiang F, Tang Z, Li H, Ren X, Wang X, Wang T, Li Q, Yang J, Liu J, Wang QK.

Invest Ophthalmol Vis Sci. 2006 Aug;47(8):3461-6.PMID: 16877416 [PubMed - indexed for MEDLINE]Related articlesFree article

A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family.

Vanita V, Singh D, Robinson PN, Sperling K, Singh JR.

Am J Med Genet A. 2006 Mar 15;140(6):558-66.PMID: 16470690 [PubMed - indexed for MEDLINE]Related articles

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

Thomas PM, Cote GJ, Wohllk N, Haddad B, Mathew PM, Rabl W, Aguilar-Bryan L, Gagel RF, Bryan J.

Science. 1995 Apr 21;268(5209):426-9.PMID: 7716548 [PubMed - indexed for MEDLINE]Related articles

A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly.

Maslen C, Babcock D, Raghunath M, Steinmann B.

Am J Hum Genet. 1997 Jun;60(6):1389-98.PMID: 9199560 [PubMed - indexed for MEDLINE]Related articlesFree article

The Clamp-Like Index: a novel and highly sensitive insulin sensitivity index to calculate hyperinsulinemic clamp glucose infusion rates from oral glucose tolerance tests in nondiabetic subjects.

Anderwald C, Anderwald-Stadler M, Promintzer M, Prager G, Mandl M, Nowotny P, Bischof MG, Wolzt M, Ludvik B, Kästenbauer T, Pacini G, Luger A, Krebs M.

Diabetes Care. 2007 Sep;30(9):2374-80. Epub 2007 Jun 26.PMID: 17595351 [PubMed - indexed for MEDLINE]Related articlesFree article

A novel PITX2 mutation and a polymorphism in a 5-generation family with Axenfeld-Rieger anomaly and coexisting Fuchs' endothelial dystrophy.

Kniestedt C, Taralczak M, Thiel MA, Stuermer J, Baumer A, Gloor BP.

Ophthalmology. 2006 Oct;113(10):1791.e1-8. Epub 2006 Jul 31.PMID: 16876867 [PubMed - indexed for MEDLINE]Related articles

A novel pattern of mutation in uromodulin disorders: autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease.

Lens XM, Banet JF, Outeda P, Barrio-Lucía V.

Am J Kidney Dis. 2005 Jul;46(1):52-7.PMID: 15983957 [PubMed - indexed for MEDLINE]Related articles

Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation.

Molven A, Matre GE, Duran M, Wanders RJ, Rishaug U, Njølstad PR, Jellum E, Søvik O.

Diabetes. 2004 Jan;53(1):221-7.PMID: 14693719 [PubMed - indexed for MEDLINE]Related articlesFree article

Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation.

Cuesta-Muñoz AL, Huopio H, Otonkoski T, Gomez-Zumaquero JM, Näntö-Salonen K, Rahier J, López-Enriquez S, García-Gimeno MA, Sanz P, Soriguer FC, Laakso M.

Diabetes. 2004 Aug;53(8):2164-8.PMID: 15277402 [PubMed - indexed for MEDLINE]Related articlesFree article

A novel mutation in the connexin 46 (GJA3) gene associated with autosomal dominant congenital cataract in an Indian family.

Guleria K, Sperling K, Singh D, Varon R, Singh JR, Vanita V.

Mol Vis. 2007 Sep 11;13:1657-65.PMID: 17893674 [PubMed - indexed for MEDLINE]Related articlesFree article

A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.

Ma X, Li FF, Wang SZ, Gao C, Zhang M, Zhu SQ.

Mol Vis. 2008;14:1906-11. Epub 2008 Oct 24.PMID: 18958306 [PubMed - indexed for MEDLINE]Related articlesFree article

The molecular basis for familial persistent hyperinsulinemic hypoglycemia of infancy.

Thomas PM, Cote GJ, Wohllk N, Mathew PM, Gagel RF.

Proc Assoc Am Physicians. 1996 Jan;108(1):14-9.PMID: 8834059 [PubMed - indexed for MEDLINE]Related articles