158 related articles for article (PubMed ID: 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. PubMed ID: 23274434
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 22779076
[TBL] [Abstract][Full Text] [Related]
3. A novel de novo SLC26A3 mutation causing congenital chloride diarrhea in a Japanese neonate.
Konishi KI; Mizuochi T; Honma H; Etani Y; Morikawa K; Wada K; Yamamoto K
Mol Genet Genomic Med; 2020 Nov; 8(11):e1505. PubMed ID: 32951339
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 21694535
[TBL] [Abstract][Full Text] [Related]
5. A novel missense mutation Q495K of SLC26A3 gene identified in a Chinese child with congenital chloride-losing diarrhoea.
Guo H; Zheng BX; Jin Y
Acta Paediatr; 2017 Jun; 106(6):1004-1005. PubMed ID: 28258656
[No Abstract] [Full Text] [Related]
6. Congenital chloride diarrhea and Pendred syndrome: case report of siblings with two rare recessive disorders of SLC26 family genes.
Lindberg E; Moller C; Kere J; Wedenoja S; Anderzén-Carlsson A
BMC Med Genet; 2020 Apr; 21(1):79. PubMed ID: 32295532
[TBL] [Abstract][Full Text] [Related]
7. Japanese neonate with congenital chloride diarrhea caused by SLC26A3 mutation.
Fuwa K; Hosono S; Nagano N; Munakata S; Fukamachi R; Okada T; Takahashi S; Takahashi S; Sato N; Nakayama T
Pediatr Int; 2015; 57(1):e11-3. PubMed ID: 25711268
[TBL] [Abstract][Full Text] [Related]
8. Clinical Features, Molecular Genetics, and Long-Term Outcome in Congenital Chloride Diarrhea: A Nationwide Study in Japan.
Konishi KI; Mizuochi T; Yanagi T; Watanabe Y; Ohkubo K; Ohga S; Maruyama H; Takeuchi I; Sekine Y; Masuda K; Kikuchi N; Yotsumoto Y; Ohtsuka Y; Tanaka H; Kudo T; Noguchi A; Fuwa K; Mushiake S; Ida S; Fujishiro J; Yamashita Y; Taguchi T; Yamamoto K
J Pediatr; 2019 Nov; 214():151-157.e6. PubMed ID: 31477378
[TBL] [Abstract][Full Text] [Related]
9. Congenital chloride diarrhea in a Japanese neonate with a novel SLC26A3 mutation.
Konishi KI; Mizuochi T; Takeuchi I; Arai K; Yamamoto K
Pediatr Int; 2020 Nov; 62(11):1294-1296. PubMed ID: 33124714
[No Abstract] [Full Text] [Related]
10. Congenital chloride diarrhoea in a Chinese infant with a compound heterozygous SLC26A3 mutation.
Li Q; Wang J; Zang R; Yu L; Yang Z; Sun S
BMC Pediatr; 2024 May; 24(1):305. PubMed ID: 38704545
[TBL] [Abstract][Full Text] [Related]
11. Twelve Novel Mutations in the SLC26A3 Gene in 17 Sporadic Cases of Congenital Chloride Diarrhea.
Amato F; Cardillo G; Liguori R; Scorza M; Comegna M; Elce A; Giordano S; Lucaccioni L; Lugli L; Cardile S; Romano C; Pezzella V; Castaldo G; Berni Canani R
J Pediatr Gastroenterol Nutr; 2017 Jul; 65(1):26-30. PubMed ID: 28644346
[TBL] [Abstract][Full Text] [Related]
12. Congenital Chloride Diarrhea - Novel Mutation in SLC26A3 Gene.
Bhardwaj S; Pandit D; Sinha A; Hari P; Cheong HI; Bagga A
Indian J Pediatr; 2016 Aug; 83(8):859-61. PubMed ID: 26637435
[TBL] [Abstract][Full Text] [Related]
13. 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; 8():194. PubMed ID: 24350656
[TBL] [Abstract][Full Text] [Related]
14. Novel solute carrier family 26, member 3 mutation in a prenatal recurrent case with congenital chloride diarrhea.
Wu S; Han J; Zhang Y; Ye Z; Lu P; Tian K
J Obstet Gynaecol Res; 2019 Nov; 45(11):2280-2283. PubMed ID: 31499577
[TBL] [Abstract][Full Text] [Related]
15. SLC26A3 gene mutations in Tunisian patients with congenital chloride diarrhea.
Azzabi O; Fetni I; Selmi I; Halioui S; Ben Hariz M; Giuseppe C; Siala N; Maherzi A
Tunis Med; 2016 Jan; 94(1):83. PubMed ID: 27525615
[No Abstract] [Full Text] [Related]
16. Inflammatory Bowel Disease in Patients with Congenital Chloride Diarrhoea.
Norsa L; Berni Canani R; Duclaux-Loras R; Bequet E; Köglmeier J; Russell RK; Uhlig HH; Travis S; Hollis J; Koletzko S; Grimaldi G; Castaldo G; Rodrigues A; Deflandre J; Dembinski L; Shah N; Heinz-Erian P; Janecke A; Leskinen S; Wedenoja S; Koskela R; Lachaux A; Kolho KL; Ruemmele FM
J Crohns Colitis; 2021 Oct; 15(10):1679-1685. PubMed ID: 33770165
[TBL] [Abstract][Full Text] [Related]
17. Monogenic mutations in four cases of neonatal-onset watery diarrhea and a mutation review in East Asia.
Yan W; Xiao Y; Zhang Y; Tao Y; Cao Y; Liu K; Cai W; Wang Y
Orphanet J Rare Dis; 2021 Sep; 16(1):383. PubMed ID: 34503561
[TBL] [Abstract][Full Text] [Related]
18. Congenital chloride diarrhea in patient with SLC26A2 mutation - analysis of the clinical phenotype and differential diagnosis.
Sun M; Tao N; Liu X; Yang Y; Su Y; Xu F
Pediatr Endocrinol Diabetes Metab; 2021; 27(1):51-56. PubMed ID: 33599438
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 11524734
[TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 21394828
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
