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Items: 1 to 20 of 117

1.

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 7;20(1):326-9. doi: 10.3748/wjg.v20.i1.326.

2.

ARC syndrome with high GGT cholestasis caused by VPS33B mutations.

Wang JS, Zhao J, Li LT.

World J Gastroenterol. 2014 Apr 28;20(16):4830-4. doi: 10.3748/wjg.v20.i16.4830.

3.

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. doi: 10.1111/cge.12442. Epub 2014 Aug 7.

PMID:
24917129
4.

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. doi: 10.1002/humu.22155. Epub 2012 Aug 6.

5.

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 Jan-Feb;31(1):107-12. doi: 10.1097/BPO.0b013e3182032c83.

PMID:
21150740
6.

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.

PMID:
19274792
7.

Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features.

Zhou Y, Zhang J.

Ital J Pediatr. 2014 Sep 20;40:77. doi: 10.1186/s13052-014-0077-3. Review.

8.

Defective lamellar granule secretion in arthrogryposis, renal dysfunction, and cholestasis syndrome caused by a mutation in VPS33B.

Hershkovitz D, Mandel H, Ishida-Yamamoto A, Chefetz I, Hino B, Luder A, Indelman M, Bergman R, Sprecher E.

Arch Dermatol. 2008 Mar;144(3):334-40. doi: 10.1001/archderm.144.3.334.

PMID:
18347289
9.

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.

PMID:
16492441
10.

Liver transplant in a case of arthrogryposis-renal tubular dysfunction-cholestasis syndrome with severe intractable pruritus.

Dehghani SM, Bahador A, Nikeghbalian S, Salahi H, Geramizadeh B, Malekpour A, Malek-Hosseini SA.

Exp Clin Transplant. 2013 Jun;11(3):290-2. doi: 10.6002/ect.2012.0202. Epub 2012 Nov 22.

11.

ARC syndrome in preterm baby.

Elmeery A, Lanka K, Cummings J.

J Perinatol. 2013 Oct;33(10):821-2. doi: 10.1038/jp.2013.62.

PMID:
24071963
12.

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. doi: 10.1002/pbc.25814. Epub 2015 Oct 27.

13.

Novel VIPAS39 mutation in a syndromic patient with arthrogryposis, renal tubular dysfunction and intrahepatic cholestasis.

Aflatounian M, Smith H, Farahani F, Tofighi Naeem A, Straatman-Iwanowska A, Zoghi S, Khatri U, Tajdini P, Fallahi GH, Gissen P, Rezaei N.

Eur J Med Genet. 2016 Apr;59(4):237-9. doi: 10.1016/j.ejmg.2016.01.005. Epub 2016 Jan 23.

PMID:
26808426
14.

Clinical and molecular genetic features of ARC syndrome.

Gissen P, Tee L, Johnson CA, Genin E, Caliebe A, Chitayat D, Clericuzio C, Denecke J, Di Rocco M, Fischler B, FitzPatrick D, García-Cazorla A, Guyot D, Jacquemont S, Koletzko S, Leheup B, Mandel H, Sanseverino MT, Houwen RH, McKiernan PJ, Kelly DA, Maher ER.

Hum Genet. 2006 Oct;120(3):396-409. Epub 2006 Aug 1.

PMID:
16896922
15.

Aberrant splicing by a mutation, c.403+2T>A, in Korean patients with arthrogryposis-renal-dysfunction-cholestasis syndrome.

Kim KM, Kim GH, Park YS, Yoo HW.

Pediatr Int. 2011 Aug;53(4):609-10. doi: 10.1111/j.1442-200X.2011.03418.x. No abstract available.

PMID:
21851503
16.

Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.

Gissen P, Johnson CA, Morgan NV, Stapelbroek JM, Forshew T, Cooper WN, McKiernan PJ, Klomp LW, Morris AA, Wraith JE, McClean P, Lynch SA, Thompson RJ, Lo B, Quarrell OW, Di Rocco M, Trembath RC, Mandel H, Wali S, Karet FE, Knisely AS, Houwen RH, Kelly DA, Maher ER.

Nat Genet. 2004 Apr;36(4):400-4. Epub 2004 Mar 28.

PMID:
15052268
17.

Vps33b pathogenic mutations preferentially affect VIPAS39/SPE-39-positive endosomes.

Tornieri K, Zlatic SA, Mullin AP, Werner E, Harrison R, L'hernault SW, Faundez V.

Hum Mol Genet. 2013 Dec 20;22(25):5215-28. doi: 10.1093/hmg/ddt378. Epub 2013 Aug 4.

18.

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. doi: 10.1002/humu.20900.

19.

Arthrogryposis, renal dysfunction, and cholestasis syndrome caused by VIPAR mutation.

Ackermann O, Gonzales E, Keller M, Guettier C, Gissen P, Jacquemin E.

J Pediatr Gastroenterol Nutr. 2014 Mar;58(3):e29-32. doi: 10.1097/MPG.0b013e318298108f. No abstract available.

PMID:
23636179
20.

Increased nuchal translucency in arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome and discovery of a Portuguese specific mutation in the VPS33B gene.

Sanseverino MT, de Souza CF, Gissen P, Sordi AO, Magalhães JA, Schüler-Faccini L.

Ultrasound Obstet Gynecol. 2006 Aug;28(2):233-4. No abstract available.

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