177 related articles for article (PubMed ID: 26505894)
1. The Role of Platelets and ε-Aminocaproic Acid in Arthrogryposis, Renal Dysfunction, and Cholestasis (ARC) Syndrome Associated Hemorrhage.
Weyand AC; Lombel RM; Pipe SW; Shavit JA
Pediatr Blood Cancer; 2016 Mar; 63(3):561-3. PubMed ID: 26505894
[TBL] [Abstract][Full Text] [Related]
2. A Novel VPS33B Mutation in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome.
Moon AT; Christensen T; Streicher JL; Castelo-Soccio L
Pediatr Dermatol; 2017 Jul; 34(4):e171-e173. PubMed ID: 28544027
[TBL] [Abstract][Full Text] [Related]
3. ARC syndrome with high GGT cholestasis caused by VPS33B mutations.
Wang JS; Zhao J; Li LT
World J Gastroenterol; 2014 Apr; 20(16):4830-4. PubMed ID: 24782640
[TBL] [Abstract][Full Text] [Related]
4. ARC syndrome.
Mutlu M; Aslan Y; Aktürk-Acar F; Çakır M; Erduran E; Kalyoncu M
Turk J Pediatr; 2017; 59(4):487-490. PubMed ID: 29624233
[TBL] [Abstract][Full Text] [Related]
5. Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome.
Seo SH; Hwang SM; Ko JM; Ko JS; Hyun YJ; Cho SI; Park H; Kim SY; Seong MW; Park SS
Clin Genet; 2015 Jul; 88(1):80-4. PubMed ID: 24917129
[TBL] [Abstract][Full Text] [Related]
6. Severe renal Fanconi and management strategies in Arthrogryposis-Renal dysfunction-Cholestasis syndrome: a case report.
Rosales A; Mhibik M; Gissen P; Segarra O; Redecillas S; Ariceta G
BMC Nephrol; 2018 Jun; 19(1):144. PubMed ID: 29907094
[TBL] [Abstract][Full Text] [Related]
7. Haematological manifestations of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: a case report.
Saadah OI; Bokhari BE; Alshaeri TM; Jastaniah W
Arab J Gastroenterol; 2013 Mar; 14(1):26-8. PubMed ID: 23622807
[TBL] [Abstract][Full Text] [Related]
8. Two novel VPS33B mutations in a patient with arthrogryposis, renal dysfunction and cholestasis syndrome in mainland China.
Li LT; Zhao J; Chen R; Wang JS
World J Gastroenterol; 2014 Jan; 20(1):326-9. PubMed ID: 24415890
[TBL] [Abstract][Full Text] [Related]
9. [The complex phenotype of ARC syndrome: A new case].
Giraud A; Ramond F; Cremillieux C; Touraine R; Patural H; Stephan JL
Arch Pediatr; 2017 Feb; 24(2):131-134. PubMed ID: 28007512
[TBL] [Abstract][Full Text] [Related]
10. Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.
Smith H; Galmes R; Gogolina E; Straatman-Iwanowska A; Reay K; Banushi B; Bruce CK; Cullinane AR; Romero R; Chang R; Ackermann O; Baumann C; Cangul H; Cakmak Celik F; Aygun C; Coward R; Dionisi-Vici C; Sibbles B; Inward C; Kim CA; Klumperman J; Knisely AS; Watson SP; Gissen P
Hum Mutat; 2012 Dec; 33(12):1656-64. PubMed ID: 22753090
[TBL] [Abstract][Full Text] [Related]
11. Platelet VPS16B is dependent on VPS33B expression, as determined in two siblings with arthrogryposis, renal dysfunction, and cholestasis syndrome.
Penon-Portmann M; Westbury SK; Li L; Pluthero FG; Liu RJY; Yao HHY; Geng RSQ; Warner N; Muise AM; Lotz-Esquivel S; Howell-Ramirez M; Saborío-Chacon P; Fernández-Rojas S; Saborio-Rocafort M; Jiménez-Hernández M; Wang-Zuniga C; Cartín-Sánchez W; Shieh JT; Badilla-Porras R; Kahr WHA
J Thromb Haemost; 2022 Jul; 20(7):1712-1719. PubMed ID: 35325493
[TBL] [Abstract][Full Text] [Related]
12. One case of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome featuring an incomplete and mild phenotype.
Yu L; Li D; Zhang T; Xiao Y; Wang Y; Ge T
BMC Nephrol; 2022 Jun; 23(1):228. PubMed ID: 35761207
[TBL] [Abstract][Full Text] [Related]
13. Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features.
Zhou Y; Zhang J
Ital J Pediatr; 2014 Sep; 40():77. PubMed ID: 25239142
[TBL] [Abstract][Full Text] [Related]
14. Orthopaedic manifestations of arthrogryposis-renal dysfunction-cholestasis syndrome.
Jang WY; Cho TJ; Bae JY; Jung HW; Ko JS; Park MS; Yoo WJ; Chung CY; Seo JK; Choi IH
J Pediatr Orthop; 2011; 31(1):107-12. PubMed ID: 21150740
[TBL] [Abstract][Full Text] [Related]
15. VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: incomplete ARC syndrome phenotype.
Bull LN; Mahmoodi V; Baker AJ; Jones R; Strautnieks SS; Thompson RJ; Knisely AS
J Pediatr; 2006 Feb; 148(2):269-71. PubMed ID: 16492441
[TBL] [Abstract][Full Text] [Related]
16. [Clinical features and VPS33B mutations in a family affected by arthrogryposis, renal dysfunction, and cholestasis syndrome].
Huang DG; Liu JJ; Guo L; Song YZ
Zhongguo Dang Dai Er Ke Za Zhi; 2017 Oct; 19(10):1077-1082. PubMed ID: 29046204
[TBL] [Abstract][Full Text] [Related]
17. ARC syndrome in preterm baby.
Elmeery A; Lanka K; Cummings J
J Perinatol; 2013 Oct; 33(10):821-2. PubMed ID: 24071963
[TBL] [Abstract][Full Text] [Related]
18. Novel gene mutations in three Japanese patients with ARC syndrome associated mild phenotypes: a case series.
Satomura Y; Bessho K; Nawa N; Kondo H; Ito S; Togawa T; Yano M; Yamano Y; Inoue T; Fukui M; Onuma S; Fukuoka T; Yasuda K; Kimura T; Tachibana M; Kitaoka T; Nabatame S; Ozono K
J Med Case Rep; 2022 Feb; 16(1):60. PubMed ID: 35151346
[TBL] [Abstract][Full Text] [Related]
19. Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.
Cullinane AR; Straatman-Iwanowska A; Seo JK; Ko JS; Song KS; Gizewska M; Gruszfeld D; Gliwicz D; Tuysuz B; Erdemir G; Sougrat R; Wakabayashi Y; Hinds R; Barnicoat A; Mandel H; Chitayat D; Fischler B; Garcia-Cazorla A; Knisely AS; Kelly DA; Maher ER; Gissen P
Hum Mutat; 2009 Feb; 30(2):E330-7. PubMed ID: 18853461
[TBL] [Abstract][Full Text] [Related]
20. Clinical characteristics and VPS33B mutations in patients with ARC syndrome.
Jang JY; Kim KM; Kim GH; Yu E; Lee JJ; Park YS; Yoo HW
J Pediatr Gastroenterol Nutr; 2009 Mar; 48(3):348-54. PubMed ID: 19274792
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
