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Results: 1 to 20 of 101

1.

A case of Rabson-Mendenhall syndrome with a novel mutation in the tyrosine kinase domain of the insulin receptor gene complicated by medullary sponge kidney.

Abe Y, Sato T, Takagi M, Watanabe T, Nagayama Y, Hasegawa T, Abe T.

J Pediatr Endocrinol Metab. 2012;25(5-6):587-90.

PMID:
22876563
[PubMed - indexed for MEDLINE]
2.

Rabson-Mendenhall syndrome with recurrent cerebral infarcts caused by a novel INSR mutation.

Mohanan S, Chandrashekar L, Semple RK, Thappa DM, Parameswaran N, Negi VS, Ramassamy S.

Int J Dermatol. 2013 Feb;52(2):182-5. doi: 10.1111/j.1365-4632.2012.05665.x.

PMID:
23347304
[PubMed - indexed for MEDLINE]
3.

Rabson-Mendenhall syndrome: medullary sponge kidney, a new component.

Harris AM, Hall B, Kriss VM, Fowlkes JL, Kiessling SG.

Pediatr Nephrol. 2007 Dec;22(12):2141-4. Epub 2007 Sep 12.

PMID:
17849153
[PubMed - indexed for MEDLINE]
4.

Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidence.

Kim D, Cho SY, Yeau SH, Park SW, Sohn YB, Kwon MJ, Kim JY, Ki CS, Jin DK.

J Korean Med Sci. 2012 May;27(5):565-8. doi: 10.3346/jkms.2012.27.5.565. Epub 2012 Apr 25.

PMID:
22563226
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Functional characterization of insulin receptor gene mutations contributing to Rabson-Mendenhall syndrome - phenotypic heterogeneity of insulin receptor gene mutations.

Jiang S, Fang Q, Zhang F, Wan H, Zhang R, Wang C, Bao Y, Zhang L, Ma X, Lu J, Gao F, Xiang K, Jia W.

Endocr J. 2011;58(11):931-40. Epub 2011 Aug 23.

PMID:
21869538
[PubMed - indexed for MEDLINE]
Free Article
6.

A novel mutation of the insulin receptor gene in a preterm infant with Donohue syndrome and heart failure.

Nobile S, Semple RK, Carnielli VP.

J Pediatr Endocrinol Metab. 2012;25(3-4):363-6.

PMID:
22768670
[PubMed - indexed for MEDLINE]
7.

[Insulin receptor defect as a cause of Rabson-Mendenhall syndrome and other rare genetic insulin resistance syndromes].

Rojek A, Niedziela M.

Pediatr Endocrinol Diabetes Metab. 2010;16(3):205-12. Review. Polish.

PMID:
21092701
[PubMed - indexed for MEDLINE]
Free Article
8.

Decreased half-life of insulin-like growth factor I in Rabson-Mendenhall syndrome.

Longo N, Singh R, Elsas LJ.

J Inherit Metab Dis. 2001 Oct;24(5):546-50.

PMID:
11757582
[PubMed - indexed for MEDLINE]
9.

Leprechaunism (Donohue syndrome): a case bearing novel compound heterozygous mutations in the insulin receptor gene.

Kawashima Y, Nishimura R, Utsunomiya A, Kagawa R, Funata H, Fujimoto M, Hanaki K, Kanzaki S.

Endocr J. 2013 Jan 31;60(1):107-12. Epub 2012 Oct 9.

PMID:
22972224
[PubMed - indexed for MEDLINE]
Free Article
10.

Renal manifestations of severe Rabson-Mendenhall syndrome: a case report.

Chong YH, Taylor BJ, Wheeler BJ.

J Diabetes Metab Disord. 2013 Jan 22;12(1):7. doi: 10.1186/2251-6581-12-7.

PMID:
23497647
[PubMed]
Free PMC Article
11.

[A case of Rabson-Mendenhall syndrome].

Ma L, Wang J, Fang YX.

Zhonghua Er Ke Za Zhi. 2013 Jul;51(7):545-7. Chinese. No abstract available.

PMID:
24267141
[PubMed - indexed for MEDLINE]
12.

An in-frame insertion in exon 3 and a nonsense mutation in exon 2 of the insulin receptor gene associated with severe insulin resistance in a patient with Rabson-Mendenhall syndrome.

Müller-Wieland D, van der Vorm ER, Streicher R, Krone W, Seemanova E, Dreyer M, Rüdiger HW, Rosipal SR, Maassen JA.

Diabetologia. 1993 Nov;36(11):1168-74.

PMID:
8270132
[PubMed - indexed for MEDLINE]
13.

[Rabson-Mendenhall syndrome].

Ando A.

Nihon Rinsho. 1994 Oct;52(10):2641-2. Review. Japanese.

PMID:
7983791
[PubMed - indexed for MEDLINE]
14.

Characterisation of adiponectin multimers and the IGF axis in humans with a heterozygote mutation in the tyrosine kinase domain of the insulin receptor gene.

Højlund K, Beck-Nielsen H, Flyvbjerg A, Frystyk J.

Eur J Endocrinol. 2012 Mar;166(3):511-9. doi: 10.1530/EJE-11-0790. Epub 2011 Dec 21.

PMID:
22189999
[PubMed - indexed for MEDLINE]
Free Article
15.

Progressive decline in insulin levels in Rabson-Mendenhall syndrome.

Longo N, Wang Y, Pasquali M.

J Clin Endocrinol Metab. 1999 Aug;84(8):2623-9.

PMID:
10443650
[PubMed - indexed for MEDLINE]
16.

Rabson-Mendenhall syndrome: two case reports and a brief review of the literature.

Bathi RJ, Parveen S, Mutalik S, Rao R.

Odontology. 2010 Feb;98(1):89-96. doi: 10.1007/s10266-009-0106-7. Epub 2010 Feb 16. Review.

PMID:
20155514
[PubMed - indexed for MEDLINE]
17.

Severe progressive obstructive cardiomyopathy and renal tubular dysfunction in Donohue syndrome with decreased insulin receptor autophosphorylation due to a novel INSR mutation.

Hovnik T, Bratanič N, Podkrajšek KT, Kovač J, Paro D, Podnar T, Bratina N, Battelino T.

Eur J Pediatr. 2013 Aug;172(8):1125-9. doi: 10.1007/s00431-012-1901-7. Epub 2012 Dec 11.

PMID:
23229189
[PubMed - indexed for MEDLINE]
18.

Genotype-phenotype correlation in inherited severe insulin resistance.

Longo N, Wang Y, Smith SA, Langley SD, DiMeglio LA, Giannella-Neto D.

Hum Mol Genet. 2002 Jun 1;11(12):1465-75.

PMID:
12023989
[PubMed - indexed for MEDLINE]
Free Article
19.

Functional characterization of a novel insulin receptor mutation contributing to Rabson-Mendenhall syndrome.

Tuthill A, Semple RK, Day R, Soos MA, Sweeney E, Seymour PJ, Didi M, O'rahilly S.

Clin Endocrinol (Oxf). 2007 Jan;66(1):21-6.

PMID:
17201797
[PubMed - indexed for MEDLINE]
20.

Severe deficiencies of IGF-I, IGF-II, IGFBP-3, ALS and paradoxically high-normal bone mass in a child with insulin-resistance syndrome (Rabson-Mendenhall type).

Fowlkes JL, Bunn RC, Coleman HN, Hall B, Reid MC, Thrailkill KM.

Growth Horm IGF Res. 2007 Oct;17(5):399-407. Epub 2007 Jun 7.

PMID:
17560154
[PubMed - indexed for MEDLINE]

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