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Similar articles for PubMed (Select 24168455)

1.

EIF2AK3 mutations in South Indian children with permanent neonatal diabetes mellitus associated with Wolcott-Rallison syndrome.

Jahnavi S, Poovazhagi V, Kanthimathi S, Gayathri V, Mohan V, Radha V.

Pediatr Diabetes. 2014 Jun;15(4):313-8. doi: 10.1111/pedi.12089. Epub 2013 Oct 30.

PMID:
24168455
2.

Wolcott-Rallison syndrome.

Julier C, Nicolino M.

Orphanet J Rare Dis. 2010 Nov 4;5:29. doi: 10.1186/1750-1172-5-29. Review.

3.

Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families.

Rubio-Cabezas O, Patch AM, Minton JA, Flanagan SE, Edghill EL, Hussain K, Balafrej A, Deeb A, Buchanan CR, Jefferson IG, Mutair A; Neonatal Diabetes International Collaborative Group, Hattersley AT, Ellard S.

J Clin Endocrinol Metab. 2009 Nov;94(11):4162-70. doi: 10.1210/jc.2009-1137. Epub 2009 Oct 16. Erratum in: J Clin Endocrinol Metab. 2010 Mar;95(3):1480. Tukkahrman, Doga [corrected to Turkkahraman, Doga].

4.

Primary hypothyroidism and nipple hypoplasia in a girl with Wolcott-Rallison syndrome.

Spehar Uroić A, Mulliqi Kotori V, Rojnić Putarek N, Kušec V, Dumić M.

Eur J Pediatr. 2014 Apr;173(4):529-31. doi: 10.1007/s00431-013-2189-y. Epub 2013 Nov 6.

PMID:
24194294
5.

Variable phenotype in five patients with Wolcott-Rallison syndrome due to the same EIF2AK3 (c.1259delA) mutation.

Al-Shawi M, Al Mutair A, Ellard S, Habeb AM.

J Pediatr Endocrinol Metab. 2013;26(7-8):757-60. doi: 10.1515/jpem-2012-0071.

PMID:
23585173
6.

Frequency and spectrum of Wolcott-Rallison syndrome in Saudi Arabia: a systematic review.

Habeb AM.

Libyan J Med. 2013 Jun 10;8:21137. doi: 10.3402/ljm.v8i0.21137. Review.

7.

Wolcott-Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literature.

Ozbek MN, Senée V, Aydemir S, Kotan LD, Mungan NO, Yuksel B, Julier C, Topaloglu AK.

Pediatr Diabetes. 2010 Jun;11(4):279-85. doi: 10.1111/j.1399-5448.2009.00591.x. Epub 2010 Feb 25. Review.

PMID:
20202148
8.

Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity.

Senée V, Vattem KM, Delépine M, Rainbow LA, Haton C, Lecoq A, Shaw NJ, Robert JJ, Rooman R, Diatloff-Zito C, Michaud JL, Bin-Abbas B, Taha D, Zabel B, Franceschini P, Topaloglu AK, Lathrop GM, Barrett TG, Nicolino M, Wek RC, Julier C.

Diabetes. 2004 Jul;53(7):1876-83.

9.

Wolcott-Rallison syndrome due to a novel mutation (R491X) in EIF2AK3 gene.

Mihci E, Türkkahraman D, Ellard S, Akçurin S, Bircan I.

J Clin Res Pediatr Endocrinol. 2012 Jun;4(2):101-3. doi: 10.4274/jcrpe.619.

10.

[Two novel EIF2AK3 mutations in a Chinese boy with Wolcott-Rallison syndrome].

Feng DR, Meng Y, Zhao SM, Shi HP, Wang WC, Huang SZ.

Zhonghua Er Ke Za Zhi. 2011 Apr;49(4):301-5. Chinese.

PMID:
21624209
11.

A novel EIF2AK3 mutation leading to Wolcott-Rallison syndrome in a Chinese child.

Sang Y, Liu M, Yang W, Yan J, Chengzhu, Ni G.

J Pediatr Endocrinol Metab. 2011;24(3-4):181-4.

PMID:
21648287
12.

Two novel mutations in the EIF2AK3 gene in children with Wolcott-Rallison syndrome.

Reis AF, Kannengiesser C, Jennane F, Manna TD, Cheurfa N, Oudin C, Savoldelli RD, Oliveira C, Grandchamp B, Kok F, Velho G.

Pediatr Diabetes. 2011 May;12(3 Pt 1):187-91. doi: 10.1111/j.1399-5448.2010.00679.x. Epub 2010 Sep 7.

PMID:
21518408
13.

Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations.

Demirbilek H, Arya VB, Ozbek MN, Houghton JA, Baran RT, Akar M, Tekes S, Tuzun H, Mackay DJ, Flanagan SE, Hattersley AT, Ellard S, Hussain K.

Eur J Endocrinol. 2015 Jun;172(6):697-705. doi: 10.1530/EJE-14-0852. Epub 2015 Mar 9.

14.

Early-onset diabetes mellitus and neurodevelopmental retardation: the first Greek case of Wolcott-Rallison syndrome.

Triantafyllou P, Vargiami E, Vagianou I, Badouraki M, Julier C, Zafeiriou DI.

J Pediatr Endocrinol Metab. 2014 Sep;27(9-10):967-70. doi: 10.1515/jpem-2013-0469.

PMID:
24859506
15.

A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS).

Abdel-Salam GM, Schaffer AE, Zaki MS, Dixon-Salazar T, Mostafa IS, Afifi HH, Gleeson JG.

Am J Med Genet A. 2012 Nov;158A(11):2788-96. doi: 10.1002/ajmg.a.35583. Epub 2012 Sep 18.

16.

Wolcott-Rallison syndrome with 3-hydroxydicarboxylic aciduria and lethal outcome.

Søvik O, Njølstad PR, Jellum E, Molven A.

J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S293-7. doi: 10.1007/s10545-008-0866-1. Epub 2008 May 20.

PMID:
18500571
17.

EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome.

Delépine M, Nicolino M, Barrett T, Golamaully M, Lathrop GM, Julier C.

Nat Genet. 2000 Aug;25(4):406-9.

PMID:
10932183
18.

A novel mutation in the EIF2AK3 gene with variable expressivity in two patients with Wolcott-Rallison syndrome.

Durocher F, Faure R, Labrie Y, Pelletier L, Bouchard I, Laframboise R.

Clin Genet. 2006 Jul;70(1):34-8.

PMID:
16813601
19.

Wolcott-Rallison syndrome: a clinical and genetic study of three children, novel mutation in EIF2AK3 and a review of the literature.

Iyer S, Korada M, Rainbow L, Kirk J, Brown RM, Shaw N, Barrett TG.

Acta Paediatr. 2004 Sep;93(9):1195-201. Review.

PMID:
15384883
20.

Loss of kinase activity in a patient with Wolcott-Rallison syndrome caused by a novel mutation in the EIF2AK3 gene.

Biason-Lauber A, Lang-Muritano M, Vaccaro T, Schoenle EJ.

Diabetes. 2002 Jul;51(7):2301-5.

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