-
1
-
-
0001871220
-
Familiare gallengangsmissbil-dungen mit tubularer neireninsurfizienz.
-
Lutz-Richner AR, Landolt RF. Familiare gallengangsmissbil-dungen mit tubularer neireninsurfizienz. Helv Paediatr Acta. 1973;28:1-12.
-
(1973)
Helv Paediatr Acta
, vol.28
, pp. 1-12
-
-
Lutz-Richner, A.R.1
Landolt, R.F.2
-
2
-
-
0018304638
-
A lethal familial syndrome associating arthrogryposis multiplex congenita, renal dysfunction, and a cholestatic and pigmentary liver disease
-
Nezelof C, Dupart MC, Jaubert F, et al. A lethal familial syndrome associating arthrogryposis multiplex congenita, renal dysfunction, and a cholestatic and pigmentary liver disease. J Pediatr. 1979;94:258-260.
-
(1979)
J Pediatr
, vol.94
, pp. 258-260
-
-
Nezelof, C.1
Dupart, M.C.2
Jaubert, F.3
-
3
-
-
0025184450
-
Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhea: A new syndrome
-
Deal JE, Barratt TM, Dillon MJ. Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhea: a new syndrome. Pediatr Nephrol. 1990;4:308-313.
-
(1990)
Pediatr Nephrol
, vol.4
, pp. 308-313
-
-
Deal, J.E.1
Barratt, T.M.2
Dillon, M.J.3
-
4
-
-
0029021250
-
Arthrogryposis, renal dysfunction and cholestasis syndrome: Report of five patients from three italian families
-
Di Rocco M, Callea F, Pollice B, et al. Arthrogryposis, renal dysfunction and cholestasis syndrome: report of five patients from three Italian families. Eur J Pediatr. 1995;154:835-839.
-
(1995)
Eur J Pediatr
, vol.154
, pp. 835-839
-
-
Di Rocco, M.1
Callea, F.2
Pollice, B.3
-
5
-
-
0030880934
-
Cerebral defects and nephrogenic diabetes insipidus with the arc syndrome: Additional findings or a new syndrome (arcc-ndi)?
-
Coleman RA, Van Hove JL, Morris CR, et al. Cerebral defects and nephrogenic diabetes insipidus with the ARC syndrome: additional findings or a new syndrome (ARCC-NDI)? Am J Med Genet. 1997;72:335-338.
-
(1997)
Am J Med Genet
, vol.72
, pp. 335-338
-
-
Coleman, R.A.1
Van Hove, J.L.2
Morris, C.R.3
-
7
-
-
0036676962
-
Arc syndrome: An expanding range of phenotypes
-
Howells R, Ramaswami U. ARC syndrome: an expanding range of phenotypes. Arch Dis Child. 2002;87:170-171.
-
(2002)
Arch Dis Child
, vol.87
, pp. 170-171
-
-
Howells, R.1
Ramaswami, U.2
-
8
-
-
8744306084
-
Liver biopsy complicated by hemorrhage in a patient with arc syndrome
-
Hayes JA, Kahr WH, Lo B, et al. Liver biopsy complicated by hemorrhage in a patient with ARC syndrome. Paediatr Anaesth. 2004;14:960-963.
-
(2004)
Paediatr Anaesth
, vol.14
, pp. 960-963
-
-
Hayes, J.A.1
Kahr, W.H.2
Lo, B.3
-
9
-
-
33644807075
-
Ichthyosis associated with arc syndrome: Arc syndrome is one of the differential diagnoses of ichthyosis
-
Choi HJ, Lee MW, Choi JH, et al. Ichthyosis associated with ARC syndrome: ARC syndrome is one of the differential diagnoses of ichthyosis. Pediatr Dermatol. 2005;22:539-542.
-
(2005)
Pediatr Dermatol
, vol.22
, pp. 539-542
-
-
Choi, H.J.1
Lee, M.W.2
Choi, J.H.3
-
11
-
-
25844507433
-
Arthrogryposis, renal tubular acidosis and cholestasis (arc) syndrome: Two new cases and review
-
Abu-Sa'da O, Barbar M, Al-Harbi N, et al. Arthrogryposis, renal tubular acidosis and cholestasis (ARC) syndrome: two new cases and review. Clin Dysmorphol. 2005;14:191-196.
-
(2005)
Clin Dysmorphol
, vol.14
, pp. 191-196
-
-
Abu-Sa'Da, O.1
Barbar, M.2
Al-Harbi, N.3
-
12
-
-
33748748371
-
Clinical and molecular genetic features of arc syndrome
-
Gissen P, Tee L, Johnson CA, et al. Clinical and molecular genetic features of ARC syndrome. Hum Genet. 2006;120: 396-409.
-
(2006)
Hum Genet
, vol.120
, pp. 396-409
-
-
Gissen, P.1
Tee, L.2
Johnson, C.A.3
-
13
-
-
0028140430
-
Liver histology in the arthrogryposis multiplex congenita renal dysfunction cholestasis ARC) syndrome report of three new cases review
-
Horslen SP, Quarrell OW, Tanner MS. Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review. J Med Genet. 1994;31:62-64.
-
(1994)
J Med Genet
, vol.31
, pp. 62-64
-
-
Horslen, S.P.1
Quarrell, O.W.2
Tanner, M.S.3
-
14
-
-
67650351386
-
Clinical characteristics and vps33b mutations in patients with arc syndrome
-
Jang JY, Kim KM, Kim GH, et al. Clinical characteristics and VPS33B mutations in patients with ARC syndrome. J Pediatr Gastroenterol Nutr. 2009;48:348-354.
-
(2009)
J Pediatr Gastroenterol Nutr
, vol.48
, pp. 348-354
-
-
Jang, J.Y.1
Kim, K.M.2
Kim, G.H.3
-
15
-
-
28844469933
-
Requirement of vps33b, a member of the sec1/munc18 protein family, in megakaryocyte and platelet alpha-granule biogenesis
-
Lo B, Li L, Gissen P, et al. Requirement of VPS33B, a member of the Sec1/Munc18 protein family, in megakaryocyte and platelet alpha-granule biogenesis. Blood. 2005;106:4159-4166.
-
(2005)
Blood
, vol.106
, pp. 4159-4166
-
-
Lo, B.1
Li, L.2
Gissen, P.3
-
16
-
-
64049109733
-
Molecular investigations to improve diagnostic accuracy in patients with arc syndrome
-
Cullinane AR, Straatman-Iwanowska A, Seo JK, et al. Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome. Hum Mutat. 2009;30:E330-E337.
-
(2009)
Hum Mutat
, vol.30
-
-
Cullinane, A.R.1
Straatman-Iwanowska, A.2
Seo, J.K.3
-
18
-
-
0015176866
-
Gray platelet syndrome. A variety of qualitative platelet disorder
-
Raccuglia G. Gray platelet syndrome. A variety of qualitative platelet disorder. Am J Med. 1971;51:818-828.
-
(1971)
Am J Med
, vol.51
, pp. 818-828
-
-
Raccuglia, G.1
-
19
-
-
12144290067
-
Mutations in vps33b, encoding a regulator ofsnare-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (arc) syndrome
-
Gissen P, Johnson CA, Morgan NV, et al. Mutations in VPS33B, encoding a regulator ofSNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. Nat Genet. 2004;36:400-404.
-
(2004)
Nat Genet
, vol.36
, pp. 400-404
-
-
Gissen, P.1
Johnson, C.A.2
Morgan, N.V.3
-
20
-
-
0035925063
-
Molecular cloning and characterization of human vps18, vps 11, vps16, and vps33
-
Huizing M, Didier A, Walenta J, et al. Molecular cloning and characterization of human VPS18, VPS 11, VPS16, and VPS33. Gene. 2001;264:241-247.
-
(2001)
Gene
, vol.264
, pp. 241-247
-
-
Huizing, M.1
Didier, A.2
Walenta, J.3
-
21
-
-
41149116755
-
Defective lamellar granule secretion in arthrogryposis, renal dysfunction, and cholestasis syndrome caused by a mutation in vps33b
-
Hershkovitz D, Mandel H, Ishida-Yamamoto A, et al. Defective lamellar granule secretion in arthrogryposis, renal dysfunction, and cholestasis syndrome caused by a mutation in VPS33B. Arch Dermatol. 2008;144:334-340.
-
(2008)
Arch Dermatol
, vol.144
, pp. 334-340
-
-
Hershkovitz, D.1
Mandel, H.2
Ishida-Yamamoto, A.3
-
22
-
-
33747622103
-
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, et al. Increased nuchal translucency in arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome and discovery of a Portuguese specific mutation in the VPS33B gene. Ultrasound Obstet Gynecol. 2006;28:233-234.
-
(2006)
Ultrasound Obstet Gynecol
, vol.28
, pp. 233-234
-
-
Sanseverino, M.T.1
De Souza, C.F.2
Gissen, P.3
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