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Items: 1 to 20 of 109

1.

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.

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. 2015 Sep;41(4):331-7. doi: 10.1016/j.diabet.2014.11.001.

3.

Identification and Functional Characterization of Two Novel Nonsense Mutations in the β-Subunit of INSR That Cause Severe Insulin Resistance Syndrome.

Choi JH, Kang M, Kim JH, Cho J, Kim GH, Yoo HW.

Horm Res Paediatr. 2015;84(2):73-8. doi: 10.1159/000381624.

PMID:
26160152
4.

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.

PMID:
23229189
5.

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.

PMID:
23824322
6.

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.

7.

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.

8.

A novel homozygous missense mutation in the insulin receptor gene results in an atypical presentation of Rabson-Mendenhall syndrome.

Ben Abdelaziz R, Ben Chehida A, Azzouz H, Boudabbous H, Lascols O, Ben Turkia H, Tebib N.

Eur J Med Genet. 2016 Jan;59(1):16-9. doi: 10.1016/j.ejmg.2015.11.015.

PMID:
26691667
9.

Continuous subcutaneous IGF-1 therapy via insulin pump in a patient with Donohue syndrome.

Weber DR, Stanescu DE, Semple R, Holland C, Magge SN.

J Pediatr Endocrinol Metab. 2014 Nov;27(11-12):1237-41. doi: 10.1515/jpem-2013-0402.

10.

First molecular diagnosis of Donohue syndrome in Africa: novel unusual insertion/deletion mutation in the INSR gene.

Siala-Sahnoun O, Dhieb D, Ben Thabet A, Hmida N, Belguith N, Fakhfakh F.

Mol Biol Rep. 2016 Mar;43(3):165-73. doi: 10.1007/s11033-016-3951-9.

PMID:
26874853
11.

[Leprechaunism: an inherited insulin resistance syndrome caused by the defect of insulin receptor].

Jiang L, Liu C, Wang WQ, Ye L, Zhu N, Zhou WW, Su TW, Li XY, Ning G.

Zhonghua Nei Ke Za Zhi. 2006 Sep;45(9):730-3. Chinese.

PMID:
17166446
12.

Donohue syndrome and use of continuous subcutaneous insulin pump therapy.

Huggard D, Stack T, Satas S, Gorman CO.

BMJ Case Rep. 2015 Oct 27;2015. pii: bcr2015210019. doi: 10.1136/bcr-2015-210019.

PMID:
26508115
13.

[Leprechaunism caused by mutations in the insulin receptor gene].

Murashita M, Tajima T, Nakae J, Fujieda K.

Nihon Rinsho. 2002 Feb;60(2):344-9. Review. Japanese.

PMID:
11857924
14.

[Leprechaunism (Donohue syndrome)].

Morooka K.

Nihon Rinsho. 2002 Sep;60 Suppl 9:801-3. Review. Japanese. No abstract available.

PMID:
12387087
15.

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
16.

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
17.

Sustained regression of florid diabetic retinopathy in a patient with Donohue syndrome (leprechaunism).

Casati S, Zoppini G, Muggeo M, Marchini G.

Eur J Ophthalmol. 2010 Jan-Feb;20(1):224-7.

PMID:
19882513
18.

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
19.

Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson-Mendenhall syndrome.

Thiel CT, Knebel B, Knerr I, Sticht H, Müller-Wieland D, Zenker M, Reis A, Dörr HG, Rauch A.

Mol Genet Metab. 2008 Jul;94(3):356-62. doi: 10.1016/j.ymgme.2008.02.013.

PMID:
18411068
20.

Classic Case Report of Donohue Syndrome (Leprechaunism; OMIM *246200): The Impact of Consanguineous Mating.

Nijim Y, Awni Y, Adawi A, Bowirrat A.

Medicine (Baltimore). 2016 Feb;95(6):e2710. doi: 10.1097/MD.0000000000002710.

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