173 related articles for article (PubMed ID: 29145277)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. 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]
14. Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa.
Kinnear C; Glanzmann B; Banda E; Schlechter N; Durrheim G; Neethling A; Nel E; Schoeman M; Johnson G; van Helden PD; Hoal EG; Esser M; Urban M; Möller M
BMC Med Genet; 2017 Mar; 18(1):26. PubMed ID: 28292286
[TBL] [Abstract][Full Text] [Related]
15. Intractable diarrhea of infancy with facial dysmorphism, trichorrhexis nodosa, and cirrhosis.
Landers MC; Schroeder TL
Pediatr Dermatol; 2003; 20(5):432-5. PubMed ID: 14521564
[TBL] [Abstract][Full Text] [Related]
16. Chronic diarrhoea due to trichohepatoenteric syndrome (THES) in an infant.
Bharadwaj SK; Mathai SS; Bhargava S; Lewis LES
BMJ Case Rep; 2024 Feb; 17(2):. PubMed ID: 38383127
[TBL] [Abstract][Full Text] [Related]
17. Long term outcomes in children with trichohepatoenteric syndrome.
Lee KY; Bremner R; Hartley J; Protheroe S; Haller W; Johnson T; Whyte L
Am J Med Genet A; 2024 Feb; 194(2):141-149. PubMed ID: 37753667
[TBL] [Abstract][Full Text] [Related]
18. Syndromic (phenotypic) diarrhea in early infancy.
Goulet O; Vinson C; Roquelaure B; Brousse N; Bodemer C; Cézard JP
Orphanet J Rare Dis; 2008 Feb; 3():6. PubMed ID: 18304370
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Expanding the clinical spectrum in trichohepatoenteric syndrome.
Dorum S; Gorukmez O
Am J Med Genet A; 2021 Oct; 185(10):2873-2877. PubMed ID: 34037310
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
