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Similar articles for PubMed (Select 12023989)

1.

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.

2.

Ten-year improvement of insulin resistance and growth with recombinant human insulin-like growth factor 1 in a patient with insulin receptor mutations resulting in leprechaunism.

de Kerdanet M, Caron-Debarle M, Nivot S, Gaillot T, Lascols O, Fremont B, Bonaure M, Gie S, Massart C, Capeau J.

Diabetes Metab. 2014 Nov 25. pii: S1262-3636(14)00170-0. doi: 10.1016/j.diabet.2014.11.001. [Epub ahead of print]

PMID:
25465274
3.

Genetic insulin resistance is a potent regulator of gene expression and proliferation in human iPS cells.

Iovino S, Burkart AM, Kriauciunas K, Warren L, Hughes KJ, Molla M, Lee YK, Patti ME, Kahn CR.

Diabetes. 2014 Dec;63(12):4130-42. doi: 10.2337/db14-0109. Epub 2014 Jul 24.

4.

[Severe type A insulin resistance syndrome due to a mutation in the insulin receptor gene].

Ros P, Colino-Alcol E, Grasso V, Barbetti F, Argente J.

An Pediatr (Barc). 2015 Jan;82(1):e30-4. doi: 10.1016/j.anpedi.2014.03.008. Epub 2014 Jul 12. Spanish.

5.

Bartter-like syndrome in patients with molecular defects of the insulin receptor gene.

Watanabe T, Abe Y.

Acta Diabetol. 2014 Oct;51(5):891-2. doi: 10.1007/s00592-014-0606-y. Epub 2014 Jun 10. No abstract available.

PMID:
24913309
6.

Two novel mutations identified in familial cases with Donohue syndrome.

Falik Zaccai TC, Kalfon L, Klar A, Elisha MB, Hurvitz H, Weingarten G, Chechik E, Fleisher Sheffer V, Haj Yahya R, Meidan G, Gross-Kieselstein E, Bauman D, Hershkovitz S, Yaron Y, Orr-Urtreger A, Wertheimer E.

Mol Genet Genomic Med. 2014 Jan;2(1):64-72. doi: 10.1002/mgg3.43. Epub 2013 Nov 14.

7.

Identification of a novel insulin receptor gene heterozygous mutation in a patient with type A insulin resistance syndrome.

Domínguez-García A, Martínez R, Urrutia I, Garin I, Castaño L.

J Pediatr Endocrinol Metab. 2014 May;27(5-6):561-4. doi: 10.1515/jpem-2013-0284.

PMID:
24468607
8.

[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
9.

Development of endometrial carcinoma in a patient with leprechaunism (donohue syndrome).

Jo W, Sudo S, Nakamura A, Endo D, Konno Y, Ishizu K, Tajima T.

Clin Pediatr Endocrinol. 2013 Apr;22(2):33-8. doi: 10.1292/cpe.22.33. Epub 2013 Apr 26.

10.

Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor: Is a Bartter-like syndrome a feature of congenital SIR?

Grasso V, Colombo C, Favalli V, Galderisi A, Rabbone I, Gombos S, Bonora E, Massa O, Meschi F, Cerutti F, Iafusco D, Bonfanti R, Monciotti C, Barbetti F.

Acta Diabetol. 2013 Dec;50(6):951-7. doi: 10.1007/s00592-013-0490-x. Epub 2013 Jul 4.

PMID:
23824322
11.

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.

12.

Syndrome of extreme insulin resistance (Rabson-Mendenhall phenotype) with atrial septal defect: clinical presentation and treatment outcomes.

Dutta D, Maisnam I, Ghosh S, Mukhopadhyay S, Chowdhury S.

J Clin Res Pediatr Endocrinol. 2013;5(1):58-61. doi: 10.4274/Jcrpe.857. Epub 2013 Jun 29.

13.

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
14.

Rabson-Mendenhall syndrome.

Gupta J, Daniel JM, Vasudevan V.

J Indian Soc Pedod Prev Dent. 2012 Jul-Sep;30(3):279-82. doi: 10.4103/0970-4388.105026.

15.

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
16.

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;60(1):107-12. Epub 2012 Oct 9.

17.

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
18.

A novel leprechaunism mutation, Cys807Arg, in an Arab infant: a rare cause of hypoglycaemia.

Baqir ZS, Al-Lawati TT, Al Hussaini SO, Al-Sinani A, Al-Said K, Al-Rashdi I.

Paediatr Int Child Health. 2012 Aug;32(3):183-5. doi: 10.1179/2046905512Y.0000000004.

PMID:
22824672
19.

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
20.

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.

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