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Similar articles for PubMed (Select 22369132)

1.

Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia.

Shaw-Smith C, Flanagan SE, Patch AM, Grulich-Henn J, Habeb AM, Hussain K, Pomahacova R, Matyka K, Abdullah M, Hattersley AT, Ellard S.

Pediatr Diabetes. 2012 Jun;13(4):314-21. doi: 10.1111/j.1399-5448.2012.00855.x. Epub 2012 Feb 27. Review.

PMID:
22369132
2.

Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness.

Labay V, Raz T, Baron D, Mandel H, Williams H, Barrett T, Szargel R, McDonald L, Shalata A, Nosaka K, Gregory S, Cohen N.

Nat Genet. 1999 Jul;22(3):300-4.

PMID:
10391221
3.

Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome.

Diaz GA, Banikazemi M, Oishi K, Desnick RJ, Gelb BD.

Nat Genet. 1999 Jul;22(3):309-12.

PMID:
10391223
4.

Novel mutation in the SLC19A2 gene in an Iranian family with thiamine-responsive megaloblastic anemia: a series of three cases.

Ghaemi N, Ghahraman M, Abbaszadegan MR, Baradaran-Heravi A, Vakili R.

J Clin Res Pediatr Endocrinol. 2013 Sep 10;5(3):199-201. doi: 10.4274/Jcrpe.969.

5.

Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings.

Mozzillo E, Melis D, Falco M, Fattorusso V, Taurisano R, Flanagan SE, Ellard S, Franzese A.

Pediatr Diabetes. 2013 Aug;14(5):384-7. doi: 10.1111/j.1399-5448.2012.00921.x. Epub 2013 Jan 4.

PMID:
23289844
6.

Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome.

Lagarde WH, Underwood LE, Moats-Staats BM, Calikoglu AS.

Am J Med Genet A. 2004 Mar 15;125A(3):299-305.

PMID:
14994241
7.

Thiamine-responsive megaloblastic anaemia: a cause of syndromic diabetes in childhood.

Olsen BS, Hahnemann JM, Schwartz M, Østergaard E.

Pediatr Diabetes. 2007 Aug;8(4):239-41.

PMID:
17659067
8.

The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families.

Raz T, Labay V, Baron D, Szargel R, Anbinder Y, Barrett T, Rabl W, Viana MB, Mandel H, Baruchel A, Cayuela JM, Cohen N.

Hum Mutat. 2000;16(1):37-42.

PMID:
10874303
9.

The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter.

Fleming JC, Tartaglini E, Steinkamp MP, Schorderet DF, Cohen N, Neufeld EJ.

Nat Genet. 1999 Jul;22(3):305-8.

PMID:
10391222
10.

Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia.

Habeb AM, Al-Magamsi MS, Eid IM, Ali MI, Hattersley AT, Hussain K, Ellard S.

Pediatr Diabetes. 2012 Sep;13(6):499-505. doi: 10.1111/j.1399-5448.2011.00828.x. Epub 2011 Nov 8.

PMID:
22060631
11.

A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome.

Gritli S, Omar S, Tartaglini E, Guannouni S, Fleming JC, Steinkamp MP, Berul CI, Hafsia R, Jilani SB, Belhani A, Hamdi M, Neufeld EJ.

Br J Haematol. 2001 May;113(2):508-13.

PMID:
11380424
12.

Thiamine-responsive megaloblastic anemia: early diagnosis may be effective in preventing deafness.

Onal H, Bariş S, Ozdil M, Yeşil G, Altun G, Ozyilmaz I, Aydin A, Celkan T.

Turk J Pediatr. 2009 May-Jun;51(3):301-4.

13.

Leber's congenital amaurosis as the retinal degenerative phenotype in thiamine responsive megaloblastic anemia: a case report.

Srikrupa NN, Meenakshi S, Arokiasamy T, Murali K, Soumittra N.

Ophthalmic Genet. 2014 Jun;35(2):119-24. doi: 10.3109/13816810.2013.793363. Epub 2013 May 2.

PMID:
23638917
14.

Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia.

Setoodeh A, Haghighi A, Saleh-Gohari N, Ellard S, Haghighi A.

Gene. 2013 May 1;519(2):295-7. doi: 10.1016/j.gene.2013.02.008. Epub 2013 Feb 20.

15.

Thiamine-responsive megaloblastic anaemia syndrome: long-term follow-up and mutation analysis of seven families.

Ricketts CJ, Minton JA, Samuel J, Ariyawansa I, Wales JK, Lo IF, Barrett TG.

Acta Paediatr. 2006 Jan;95(1):99-104.

PMID:
16373304
16.

Thiamine-responsive megaloblastic anemia (TRMA) in an Austrian boy with compound heterozygous SLC19A2 mutations.

Pichler H, Zeitlhofer P, Dworzak MN, Diakos C, Haas OA, Kager L.

Eur J Pediatr. 2012 Nov;171(11):1711-5. doi: 10.1007/s00431-012-1730-8. Epub 2012 May 11.

PMID:
22576805
17.

Refined mapping of the gene for thiamine-responsive megaloblastic anemia syndrome and evidence for genetic homogeneity.

Raz T, Barrett T, Szargel R, Mandel H, Neufeld EJ, Nosaka K, Viana MB, Cohen N.

Hum Genet. 1998 Oct;103(4):455-61.

PMID:
9856490
18.

Thiamine-responsive megaloblastic anemia syndrome with atrial standstill: a case report.

Aycan Z, Baş VN, Cetinkaya S, Ağladioğlu SY, Kendirci HN, Senocak F.

J Pediatr Hematol Oncol. 2011 Mar;33(2):144-7. doi: 10.1097/MPH.0b013e31820030ae.

PMID:
21285901
19.

Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping.

Neufeld EJ, Mandel H, Raz T, Szargel R, Yandava CN, Stagg A, Fauré S, Barrett T, Buist N, Cohen N.

Am J Hum Genet. 1997 Dec;61(6):1335-41.

20.

Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update.

Bergmann AK, Sahai I, Falcone JF, Fleming J, Bagg A, Borgna-Pignati C, Casey R, Fabris L, Hexner E, Mathews L, Ribeiro ML, Wierenga KJ, Neufeld EJ.

J Pediatr. 2009 Dec;155(6):888-892.e1. doi: 10.1016/j.jpeds.2009.06.017. Epub 2009 Jul 29.

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