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Results: 1 to 20 of 110

Similar articles for PubMed (Select 23274434)

1.

Congenital chloride diarrhea in Korean children: novel mutations and genetic characteristics.

Hong J, Seo JK, Ko JS, Cheong HI, Choi JH, Lee JH, Seo JW.

Eur J Pediatr. 2013 Apr;172(4):545-50. doi: 10.1007/s00431-012-1905-3. Epub 2012 Dec 30.

PMID:
23274434
2.

Identification of SLC26A3 mutations in a Korean patient with congenital chloride diarrhea.

Lee ES, Cho AR, Ki CS.

Ann Lab Med. 2012 Jul;32(4):312-5. doi: 10.3343/alm.2012.32.4.312. Epub 2012 Jun 20.

3.

Significance of molecular testing for congenital chloride diarrhea.

Lechner S, Ruemmele FM, Zankl A, Lausch E, Huber WD, Mihatsch W, Phillips AD, Lewindon P, Querfeld U, Heinz-Erian P, Müller T, Janecke AR.

J Pediatr Gastroenterol Nutr. 2011 Jul;53(1):48-54. doi: 10.1097/MPG.0b013e31820bc856.

PMID:
21694535
4.

Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea.

Höglund P, Sormaala M, Haila S, Socha J, Rajaram U, Scheurlen W, Sinaasappel M, de Jonge H, Holmberg C, Yoshikawa H, Kere J.

Hum Mutat. 2001 Sep;18(3):233-42.

PMID:
11524734
5.

Update on SLC26A3 mutations in congenital chloride diarrhea.

Wedenoja S, Pekansaari E, Höglund P, Mäkelä S, Holmberg C, Kere J.

Hum Mutat. 2011 Jul;32(7):715-22. doi: 10.1002/humu.21498. Epub 2011 Jun 7. Review.

PMID:
21394828
6.

Genotype-dependency of butyrate efficacy in children with congenital chloride diarrhea.

Canani RB, Terrin G, Elce A, Pezzella V, Heinz-Erian P, Pedrolli A, Centenari C, Amato F, Tomaiuolo R, Calignano A, Troncone R, Castaldo G.

Orphanet J Rare Dis. 2013 Dec 19;8:194. doi: 10.1186/1750-1172-8-194.

7.

Follow-up of a child with congenital chloride diarrhoea caused by a novel mutation.

Dechant MJ, Wedenoja S, Höglund P, Prange-Schmidt S, Zimmer KP, Heckmann M.

Acta Paediatr. 2012 Jun;101(6):e256-9. doi: 10.1111/j.1651-2227.2012.02610.x.

PMID:
22277064
8.

Genomic structure of the human congenital chloride diarrhea (CLD) gene.

Haila S, Höglund P, Scherer SW, Lee JR, Kristo P, Coyle B, Trembath R, Holmberg C, de la Chapelle A, Kere J.

Gene. 1998 Jul 3;214(1-2):87-93.

PMID:
9729124
9.

SLC26A3 mutations in congenital chloride diarrhea.

Mäkelä S, Kere J, Holmberg C, Höglund P.

Hum Mutat. 2002 Dec;20(6):425-38. Review.

PMID:
12442266
10.

Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait.

Höglund P, Auranen M, Socha J, Popinska K, Nazer H, Rajaram U, Al Sanie A, Al-Ghanim M, Holmberg C, de la Chapelle A, Kere J.

Am J Hum Genet. 1998 Sep;63(3):760-8.

11.

Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea.

Höglund P, Haila S, Socha J, Tomaszewski L, Saarialho-Kere U, Karjalainen-Lindsberg ML, Airola K, Holmberg C, de la Chapelle A, Kere J.

Nat Genet. 1996 Nov;14(3):316-9.

PMID:
8896562
12.

Congenital chloride-losing diarrhea causing mutations in the STAS domain result in misfolding and mistrafficking of SLC26A3.

Dorwart MR, Shcheynikov N, Baker JM, Forman-Kay JD, Muallem S, Thomas PJ.

J Biol Chem. 2008 Mar 28;283(13):8711-22. doi: 10.1074/jbc.M704328200. Epub 2008 Jan 23.

14.

Clinical characteristics and gene mutation analysis of methylmalonic aciduria.

Yi Q, Lv J, Tian F, Wei H, Ning Q, Luo X.

J Huazhong Univ Sci Technolog Med Sci. 2011 Jun;31(3):384-9. doi: 10.1007/s11596-011-0386-3. Epub 2011 Jun 14.

PMID:
21671183
15.

Compound heterozygous mutations in the SLC26A3 gene in 2 Spanish siblings with congenital chloride diarrhea.

Rodríguez-Herrera A, Navas-López VM, Redondo-Nevado J, Gutiérrez G.

J Pediatr Gastroenterol Nutr. 2011 Jan;52(1):106-10. doi: 10.1097/MPG.0b013e3181f28d1a. No abstract available.

PMID:
21150650
16.

Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene.

Höglund P, Haila S, Gustavson KH, Taipale M, Hannula K, Popinska K, Holmberg C, Socha J, de la Chapelle A, Kere J.

Hum Mutat. 1998;11(4):321-7.

PMID:
9554749
17.

Molecular genetic characteristics of X-linked retinoschisis in Koreans.

Kim SY, Ko HS, Yu YS, Hwang JM, Lee JJ, Kim SY, Kim JY, Seong MW, Park KH, Park SS.

Mol Vis. 2009;15:833-43. Epub 2009 Apr 23.

18.

Long-term clinical outcome in patients with congenital chloride diarrhea.

Hihnala S, Höglund P, Lammi L, Kokkonen J, Ormälä T, Holmberg C.

J Pediatr Gastroenterol Nutr. 2006 Apr;42(4):369-75.

PMID:
16641574
19.

Molecular characterization of 25 Chinese pedigrees with 21-hydroxylase deficiency.

Yu Y, Wang J, Huang X, Wang Y, Yang P, Li J, Tsuei SH, Shen Y, Fu Q.

Genet Test Mol Biomarkers. 2011 Mar;15(3):137-42. doi: 10.1089/gtmb.2010.0131. Epub 2011 Jan 3.

PMID:
21198393
20.

Molecular and clinical characterization in Japanese and Korean patients with Hailey-Hailey disease: six new mutations in the ATP2C1 gene.

Hamada T, Fukuda S, Sakaguchi S, Yasumoto S, Kim SC, Hashimoto T.

J Dermatol Sci. 2008 Jul;51(1):31-6. doi: 10.1016/j.jdermsci.2008.02.003. Epub 2008 Mar 26.

PMID:
18372165
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