117 related articles for article (PubMed ID: 25714577)
1. Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome.
Monies DM; Rahbeeni Z; Abouelhoda M; Naim EA; Al-Younes B; Meyer BF; Al-Mehaidib A
J Pediatr Gastroenterol Nutr; 2015 Mar; 60(3):352-6. PubMed ID: 25714577
[TBL] [Abstract][Full Text] [Related]
2. Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.
Bourgeois P; Esteve C; Chaix C; Béroud C; Lévy N; ; Fabre A; Badens C
Hum Mutat; 2018 Jun; 39(6):774-789. PubMed ID: 29527791
[TBL] [Abstract][Full Text] [Related]
3. Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature.
Chong JH; Jamuar SS; Ong C; Thoon KC; Tan ES; Lai A; Aan MK; Tan WL; Foo R; Tan EC; Lau YL; Liew WK
Eur J Pediatr; 2015 Oct; 174(10):1405-11. PubMed ID: 25976726
[TBL] [Abstract][Full Text] [Related]
4. Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndrome.
Fabre A; Breton A; Coste ME; Colomb V; Dubern B; Lachaux A; Lemale J; Mancini J; Marinier E; Martinez-Vinson C; Peretti N; Perry A; Roquelaure B; Venaille A; Sarles J; Goulet O; Badens C
Arch Dis Child; 2014 Jan; 99(1):35-8. PubMed ID: 24108068
[TBL] [Abstract][Full Text] [Related]
5. Tricho-hepato-enteric syndrome with novel SKIV2L gene mutations: A case report.
Hiejima E; Yasumi T; Nakase H; Matsuura M; Honzawa Y; Higuchi H; Okafuji I; Yorifuji T; Tanaka T; Izawa K; Kawai T; Nishikomori R; Heike T
Medicine (Baltimore); 2017 Nov; 96(46):e8601. PubMed ID: 29145277
[TBL] [Abstract][Full Text] [Related]
6. Genetic and Structural Analysis of a SKIV2L Mutation Causing Tricho-hepato-enteric Syndrome.
Vardi I; Barel O; Sperber M; Schvimer M; Nunberg M; Field M; Ouahed J; Marek-Yagel D; Werner L; Haberman Y; Lahad A; Anikster Y; Rechavi G; Barshack I; McElwee JJ; Maranville J; Somech R; Snapper SB; Weiss B; Shouval DS
Dig Dis Sci; 2018 May; 63(5):1192-1199. PubMed ID: 29484573
[TBL] [Abstract][Full Text] [Related]
7. Novel mutations in SKIV2L and TTC37 genes in Malaysian children with trichohepatoenteric syndrome.
Lee WS; Teo KM; Ng RT; Chong SY; Kee BP; Chua KH
Gene; 2016 Jul; 586(1):1-6. PubMed ID: 27050310
[TBL] [Abstract][Full Text] [Related]
8. Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea.
Poulton C; Pathak G; Mina K; Lassman T; Azmanov DN; McCormack E; Broley S; Dreyer L; Gration D; Taylor E; OSullivan M; Siafarikis A; Ravikumara M; Dawkins H; Pachter N; Baynam G
Gene; 2019 May; 699():110-114. PubMed ID: 30844479
[TBL] [Abstract][Full Text] [Related]
9. Targeted next-generation sequencing identification of a novel missense mutation of the SKIV2L gene in a patient with trichohepatoenteric syndrome.
Zheng B; Pan J; Jin Y; Wang C; Liu Z
Mol Med Rep; 2016 Sep; 14(3):2107-10. PubMed ID: 27431780
[TBL] [Abstract][Full Text] [Related]
10. Identifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants With Intractable Diarrhea and a Comparison of Asian and Non-Asian Phenotype and Genotype: A Global Case-report Study of a Well-Defined Syndrome With Immunodeficiency.
Lee WI; Huang JL; Chen CC; Lin JL; Wu RC; Jaing TH; Ou LS
Medicine (Baltimore); 2016 Mar; 95(9):e2918. PubMed ID: 26945392
[TBL] [Abstract][Full Text] [Related]
11. Tricho-hepato-enteric syndrome: Retrospective multicenter experience in Saudi Arabia.
Alsaleem BM; Hasosah M; Ahmed ABM; Al Hatlani MM; Alanazi AH; Al-Hussaini A; Asery AT; Alghamdi KA; AlRuwaithi MM; Khormi MAM; Al Sarkhy A; Alshamrani AS
Saudi J Gastroenterol; 2022; 28(2):135-142. PubMed ID: 34414925
[TBL] [Abstract][Full Text] [Related]
12. Exome sequencing as a differential diagnosis tool: resolving mild trichohepatoenteric syndrome.
Oz-Levi D; Weiss B; Lahad A; Greenberger S; Pode-Shakked B; Somech R; Olender T; Tatarsky P; Marek-Yagel D; Pras E; Anikster Y; Lancet D
Clin Genet; 2015 Jun; 87(6):602-3. PubMed ID: 25335910
[No Abstract] [Full Text] [Related]
13. Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease.
Neves JF; Afonso I; Borrego L; Martins C; Cordeiro AI; Neves C; Lacoste C; Badens C; Fabre A
Eur J Med Genet; 2018 Apr; 61(4):185-188. PubMed ID: 29174094
[TBL] [Abstract][Full Text] [Related]
14. A new genetic mutation in a patient with syndromic diarrhea and hepatoblastoma.
Bozzetti V; Bovo G; Vanzati A; Roggero P; Tagliabue PE
J Pediatr Gastroenterol Nutr; 2013 Sep; 57(3):e15. PubMed ID: 23974064
[No Abstract] [Full Text] [Related]
15. A Novel TTC37 Mutation Causing Clinical Symptoms of Trichohepatoenteric Syndrome Such as Pyoderma Gangrenosum and Immunodeficiency Without Severe Diarrhea.
Karaca Edeer N; Aykut A; Pariltay E; Aksu G; Cogulu O; Kutukculer N
J Investig Allergol Clin Immunol; 2019; 29(5):396-398. PubMed ID: 31132033
[No Abstract] [Full Text] [Related]
16. Trichohepatoenteric Syndrome Presenting with Severe Infection and Later Onset Diarrhoea.
Hosking LM; Bannister EG; Cook MC; Choo S; Kumble S; Cole TS
J Clin Immunol; 2018 Jan; 38(1):1-3. PubMed ID: 29127627
[No Abstract] [Full Text] [Related]
17. [A case of tricho-hepato-enteric syndrome].
Chen JJ; Shi LP
Zhonghua Er Ke Za Zhi; 2017 Apr; 55(4):308-309. PubMed ID: 28441830
[No Abstract] [Full Text] [Related]
18. Tricho-Hepato-Eenteric Syndrome: Same Genotype but Different Phenotypes in Two Pakistani Children.
Waheed N; Saeed A; Cheema HA
J Coll Physicians Surg Pak; 2022 Feb; 32(2):242-246. PubMed ID: 35108801
[TBL] [Abstract][Full Text] [Related]
19. A new mutation in the C-terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho-hepato-enteric syndrome in seven patients from two families.
Fabre A; Petit LM; Hansen LF; Wewer AV; Esteve C; Chaix C; Bourgeois P; Badens C; Paerregaard A
Am J Med Genet A; 2018 Mar; 176(3):727-732. PubMed ID: 29383842
[TBL] [Abstract][Full Text] [Related]
20. Syndromic diarrhea/Tricho-hepato-enteric syndrome.
Fabre A; Martinez-Vinson C; Goulet O; Badens C
Orphanet J Rare Dis; 2013 Jan; 8():5. PubMed ID: 23302111
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
