-
2
-
-
0038410546
-
Bile Secretion and the Enterohepatic Circulaton of Bile Acids
-
Feldman M, Friedman LS, Sleisenger MH, editors. Philadelphia: Saunders
-
Dawson PA. Bile Secretion and the Enterohepatic Circulaton of Bile Acids. In: Feldman M, Friedman LS, Sleisenger MH, editors. Gastrointestinal and Liver Disease. 7th ed. Philadelphia: Saunders; 2002:1051-62.
-
(2002)
Gastrointestinal and Liver Disease. 7th Ed.
, pp. 1051-1062
-
-
Dawson, P.A.1
-
3
-
-
0006823804
-
Medical and Nutritional Management of Cholestasis
-
Suchy FJ, Sokol RJ, Balistreri WF, editors. Philadelphia: Lippincott Williams & Wilkins
-
Feranchak AP, Ramirez RO, Sokol RJ. Medical and Nutritional Management of Cholestasis. In: Suchy FJ, Sokol RJ, Balistreri WF, editors. Liver Disease in Children. 2nd edn. Philadelphia: Lippincott Williams & Wilkins; 2001:195-238.
-
(2001)
Liver Disease in Children. 2nd Edn.
, pp. 195-238
-
-
Feranchak, A.P.1
Ramirez, R.O.2
Sokol, R.J.3
-
4
-
-
0032841507
-
Oral nalmefene therapy reduces scratching activity due to the pruritus of cholestasis: A controlled study
-
Bergasa NV, Ailing DW, Talbot TL, Wells MC, Jones EA. Oral nalmefene therapy reduces scratching activity due to the pruritus of cholestasis: a controlled study. J Am Acad Dermatol 1999;41:431-4.
-
(1999)
J Am Acad Dermatol
, vol.41
, pp. 431-434
-
-
Bergasa, N.V.1
Ailing, D.W.2
Talbot, T.L.3
Wells, M.C.4
Jones, E.A.5
-
5
-
-
0025612957
-
Subclinical liver dysfunction in one-month-old infants with a low activity of vitamin K dependent coagulant factors assessed by normotest
-
Tazawa Y, Hayamizu S, Tamaoki K, Chiba R. Subclinical liver dysfunction in one-month-old infants with a low activity of vitamin K dependent coagulant factors assessed by normotest. Tohoku J Exp Med 1990;162:195-201.
-
(1990)
Tohoku J Exp Med
, vol.162
, pp. 195-201
-
-
Tazawa, Y.1
Hayamizu, S.2
Tamaoki, K.3
Chiba, R.4
-
6
-
-
0004866707
-
Laboratory Assessment of Liver Function and Injury in Children
-
Suchy FJ, Sokol RJ, Balistreri WF, editors. Philadelphia: Lippincott Williams & Wilkins
-
Batres IA, Mailer ES. Laboratory Assessment of Liver Function and Injury in Children. In: Suchy FJ, Sokol RJ, Balistreri WF, editors. Liver Disease in Children. 2nd ed. Philadelphia: Lippincott Williams & Wilkins; 2001:155-217.
-
(2001)
Liver Disease in Children. 2nd Ed.
, pp. 155-217
-
-
Batres, I.A.1
Mailer, E.S.2
-
7
-
-
49749223133
-
Benign recurrent intrahepatic "obstructive" jaundice
-
Summerskill WH, Walshe JM. Benign recurrent intrahepatic "obstructive" jaundice. Lancet 1959;2:686-90.
-
(1959)
Lancet
, vol.2
, pp. 686-690
-
-
Summerskill, W.H.1
Walshe, J.M.2
-
8
-
-
0342908585
-
Intermittent possibly familial intrahepatic cholestatic jaundice
-
Tygstrup N. Intermittent possibly familial intrahepatic cholestatic jaundice. Lancet 1960;1:1171-2.
-
(1960)
Lancet
, vol.1
, pp. 1171-1172
-
-
Tygstrup, N.1
-
9
-
-
0036186424
-
Benign recurrent intrahepatic cholestasis progressing to progressive familial intrahepatic cholestasis: Low γGT cholestasis is a clinical continuum
-
van Ooteghem NA, Klomp LW, van Berge-Henegouwen GP, Houwen RH. Benign recurrent intrahepatic cholestasis progressing to progressive familial intrahepatic cholestasis: low γGT cholestasis is a clinical continuum. J Hepatol 2002;36: 439-43.
-
(2002)
J Hepatol
, vol.36
, pp. 439-443
-
-
Van Ooteghem, N.A.1
Klomp, L.W.2
Van Berge-Henegouwen, G.P.3
Houwen, R.H.4
-
10
-
-
0014442684
-
Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred
-
Clayton RJ, Iber FL, Ruebner BH, McKusick VA. Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred. Am J Dis Child 1969;117:112-24.
-
(1969)
Am J Dis Child
, vol.117
, pp. 112-124
-
-
Clayton, R.J.1
Iber, F.L.2
Ruebner, B.H.3
McKusick, V.A.4
-
11
-
-
0029038668
-
Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region
-
Carlton VE, Knisely AS, Freimer NB. Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region. Hum Mol Genet 1995;4:1049-53.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1049-1053
-
-
Carlton, V.E.1
Knisely, A.S.2
Freimer, N.B.3
-
13
-
-
12644268207
-
Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): Evidence for heterogeneity
-
Bull LN, Carlton VE, Stricker NL, Baharloo S, DeYoung JA, Freimer NB, et al. Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): evidence for heterogeneity. Hepatology 1997;26:155-64.
-
(1997)
Hepatology
, vol.26
, pp. 155-164
-
-
Bull, L.N.1
Carlton, V.E.2
Stricker, N.L.3
Baharloo, S.4
DeYoung, J.A.5
Freimer, N.B.6
-
14
-
-
0034005389
-
Progressive familial intrahepatic cholestasis: A personal perspective
-
Knisely AS. Progressive familial intrahepatic cholestasis: A personal perspective. Pediatr Dev Pathol. 2000;3:113-25.
-
(2000)
Pediatr Dev Pathol
, vol.3
, pp. 113-125
-
-
Knisely, A.S.1
-
15
-
-
0033652101
-
A missense mutation in FIC1 is associated with Greenland familial cholestasis
-
Klomp LW, Bull LN, Knisely AS, van Der Doelen MA, Juijn JA, Berger R, et al. A missense mutation in FIC1 is associated with Greenland familial cholestasis. Hepatology 2000; 32: 1337-41.
-
(2000)
Hepatology
, vol.32
, pp. 1337-1341
-
-
Klomp, L.W.1
Bull, L.N.2
Knisely, A.S.3
Van Der Doelen, M.A.4
Juijn, J.A.5
Berger, R.6
-
16
-
-
0031907132
-
A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis
-
Bull LN, van Eijk MJ, Pawlikowska L, DeYoung JA, Juijn JA, Liao M, et al. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Nat Genet 1998;18:219-24.
-
(1998)
Nat Genet
, vol.18
, pp. 219-224
-
-
Bull, L.N.1
Van Eijk, M.J.2
Pawlikowska, L.3
DeYoung, J.A.4
Juijn, J.A.5
Liao, M.6
-
17
-
-
0036161690
-
FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low alpha-glutamyltranspeptidase levels
-
Chen HL, Chang PS, Hsu HC, Ni YH, Hsu HY, Lee JH, et al. FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low alpha-glutamyltranspeptidase levels. J Pediatr 2002;140:119-24.
-
(2002)
J Pediatr
, vol.140
, pp. 119-124
-
-
Chen, H.L.1
Chang, P.S.2
Hsu, H.C.3
Ni, Y.H.4
Hsu, H.Y.5
Lee, J.H.6
-
18
-
-
0036023931
-
Intractable diarrhea after liver transplantation for Byler's disease: Successful treatment with bile adsorptive resin
-
Egawa H, Yorifuji T, Sumazaki R, Kimura A, Hasegawa M, Tanaka K. Intractable diarrhea after liver transplantation for Byler's disease: Successful treatment with bile adsorptive resin. Liver Transpl 2002;8:714-6.
-
(2002)
Liver Transpl
, vol.8
, pp. 714-716
-
-
Egawa, H.1
Yorifuji, T.2
Sumazaki, R.3
Kimura, A.4
Hasegawa, M.5
Tanaka, K.6
-
19
-
-
3042782537
-
Characterization of mutations in ATP8B1 associated with hereditary cholestasis
-
Klomp LWJ, Vargas JC, van Mil SWC, Pawlikowska L, Strautnieks SS, van Eijk MJT, et al. Characterization of mutations in ATP8B1 associated with hereditary cholestasis. Hepatology 2004;40:27-38.
-
(2004)
Hepatology
, vol.40
, pp. 27-38
-
-
Klomp, L.W.J.1
Vargas, J.C.2
Van Mil, S.W.C.3
Pawlikowska, L.4
Strautnieks, S.S.5
Van Eijk, M.J.T.6
-
21
-
-
0034798633
-
FIC1, the protein affected in two forms of hereditary cholestasis, is localized in the cholangiocyte and the canalicular membrane of the hepatocyte
-
Eppens EF, van Mil SW, de Vree JM, Mok KS, Juijn JA, Oude Elferink RP, et al. FIC1, the protein affected in two forms of hereditary cholestasis, is localized in the cholangiocyte and the canalicular membrane of the hepatocyte. J Hepatol 2001;35:436-43.
-
(2001)
J Hepatol
, vol.35
, pp. 436-443
-
-
Eppens, E.F.1
Van Mil, S.W.2
De Vree, J.M.3
Mok, K.S.4
Juijn, J.A.5
Oude Elferink, R.P.6
-
22
-
-
0034812920
-
Familial intrahepatic cholestasis 1: Studies of localization and function
-
Ujhazy P, Ortiz D, Misra S, Li S, Moseley J, Jones H, et al. Familial intrahepatic cholestasis 1: Studies of localization and function. Hepatology 2001;34:768-75.
-
(2001)
Hepatology
, vol.34
, pp. 768-775
-
-
Ujhazy, P.1
Ortiz, D.2
Misra, S.3
Li, S.4
Moseley, J.5
Jones, H.6
-
23
-
-
0029832666
-
Byler-like familial cholestasis in an extended kindred
-
Bourke B, Goggin N, Walsh D, Kennedy S, Setchell KD, Drumm B. Byler-like familial cholestasis in an extended kindred. Arch Dis Child 1996;75:223-7.
-
(1996)
Arch Dis Child
, vol.75
, pp. 223-227
-
-
Bourke, B.1
Goggin, N.2
Walsh, D.3
Kennedy, S.4
Setchell, K.D.5
Drumm, B.6
-
24
-
-
3242812869
-
Taurocholate transport by hepatic and intestinal bile acid transporters is independent of FIC1 overexpression in Madin-Darby canine kidney cells
-
Harris MJ, Kagawa T, Dawson PA, Arias IM. Taurocholate transport by hepatic and intestinal bile acid transporters is independent of FIC1 overexpression in Madin-Darby canine kidney cells. J Gastro Hepatol 2004;19:819-25.
-
(2004)
J Gastro Hepatol
, vol.19
, pp. 819-825
-
-
Harris, M.J.1
Kagawa, T.2
Dawson, P.A.3
Arias, I.M.4
-
25
-
-
0037345029
-
Drs2p-related P-type ATPases Dnf1p and Dnf2p are required for phospholipid translocation across the yeast plasma membrane and serve a role in endocytosis
-
Pomorski T, Lombardi R, Riezman H, Devaux PF, Van Meer G, Holthuis JC. Drs2p-related P-type ATPases Dnf1p and Dnf2p are required for phospholipid translocation across the yeast plasma membrane and serve a role in endocytosis. Mol Biol Cell 2003;14:1240-54.
-
(2003)
Mol Biol Cell
, vol.14
, pp. 1240-1254
-
-
Pomorski, T.1
Lombardi, R.2
Riezman, H.3
Devaux, P.F.4
Van Meer, G.5
Holthuis, J.C.6
-
26
-
-
0037125940
-
Drs2p-dependent formation of exocytic clathrin-coated vesicles in vivo
-
Gall WE, Geething NC, Hua Z, Ingram MF, Liu K, Chen SI, et al. Drs2p-dependent formation of exocytic clathrin-coated vesicles in vivo. Curr Biol 2002;12:1623-7.
-
(2002)
Curr Biol
, vol.12
, pp. 1623-1627
-
-
Gall, W.E.1
Geething, N.C.2
Hua, Z.3
Ingram, M.F.4
Liu, K.5
Chen, S.I.6
-
27
-
-
0036732873
-
An essential subfamily of Drs2p-related P-type ATPases is required for protein trafficking between Golgi complex and endosomal/vacuolar system
-
Hua Z, Fatheddin P, Graham TR. An essential subfamily of Drs2p-related P-type ATPases is required for protein trafficking between Golgi complex and endosomal/vacuolar system. Mol Biol Cell 2002;13:3162-77.
-
(2002)
Mol Biol Cell
, vol.13
, pp. 3162-3177
-
-
Hua, Z.1
Fatheddin, P.2
Graham, T.R.3
-
28
-
-
10744227867
-
Progressive Familial Intrahepatic Cholestasis, Type 1, is associated with decreased farnesoid X receptor activity
-
Chen F, Ananthanarayanan M, Emre S, Neimark E, Bull L, Knisely AS, et al. Progressive Familial Intrahepatic Cholestasis, Type 1, is associated with decreased farnesoid X receptor activity. Gastroenterology 2004;126:756-64.
-
(2004)
Gastroenterology
, vol.126
, pp. 756-764
-
-
Chen, F.1
Ananthanarayanan, M.2
Emre, S.3
Neimark, E.4
Bull, L.5
Knisely, A.S.6
-
29
-
-
11144355538
-
A mouse genetic model for familial cholestasis caused by ATP8B1 mutations reveals perturbed bile salt homeostasis but no impairment in bile secretion
-
Pawlikowska L, Groen A, Eppens EF, Kunne D, Ottenhoff R, Looije N, et al. A mouse genetic model for familial cholestasis caused by ATP8B1 mutations reveals perturbed bile salt homeostasis but no impairment in bile secretion. Hum Mol Genet 2004;13:881-92.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 881-892
-
-
Pawlikowska, L.1
Groen, A.2
Eppens, E.F.3
Kunne, D.4
Ottenhoff, R.5
Looije, N.6
-
30
-
-
17344366172
-
A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis
-
Strautnieks SS, Bull LN, Knisely AS, Kocoshis SA, Dahl N, Arnell H, et al. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet 1998;20:233-8.
-
(1998)
Nat Genet
, vol.20
, pp. 233-238
-
-
Strautnieks, S.S.1
Bull, L.N.2
Knisely, A.S.3
Kocoshis, S.A.4
Dahl, N.5
Arnell, H.6
-
31
-
-
0032711405
-
Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis
-
Jansen PL, Strautnieks SS, Jacquemin E, Hadchouel M, Sokal E, Hooiveld GJ, et al. Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. Gastroenterology 1999;117:1370-9.
-
(1999)
Gastroenterology
, vol.117
, pp. 1370-1379
-
-
Jansen, P.L.1
Strautnieks, S.S.2
Jacquemin, E.3
Hadchouel, M.4
Sokal, E.5
Hooiveld, G.J.6
-
32
-
-
0041531906
-
Clinical and biochemical features of FIC1 (ATP8B1) and BSEP (ABCB11) disease
-
Abstract
-
Bull LN, Freimer NB, Czubkowski P, Pawlowska J, Jankowska I, Lacaille F, et al. Clinical and biochemical features of FIC1 (ATP8B1) and BSEP (ABCB11) disease. Hepatology 2002;36:310A, Abstract.
-
(2002)
Hepatology
, vol.36
-
-
Bull, L.N.1
Freimer, N.B.2
Czubkowski, P.3
Pawlowska, J.4
Jankowska, I.5
Lacaille, F.6
-
33
-
-
85050707122
-
Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11
-
In press
-
van Mil SWC, van der Woerd WL, ven der Brugge G, Sturm E, Jansen PLM, Bull LN, et al. Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. Gastroenterology. In press.
-
Gastroenterology
-
-
Van Mil, S.W.C.1
Van Der Woerd, W.L.2
Ven Der Brugge, G.3
Sturm, E.4
Jansen, P.L.M.5
Bull, L.N.6
-
34
-
-
10744220281
-
Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy
-
Pauli-Magnus C, Lang T, Meier Y, Zodan-Marin T, Jung D, Breymann C, et al. Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy. Pharmacogenetics 2004;14:91-102.
-
(2004)
Pharmacogenetics
, vol.14
, pp. 91-102
-
-
Pauli-Magnus, C.1
Lang, T.2
Meier, Y.3
Zodan-Marin, T.4
Jung, D.5
Breymann, C.6
-
35
-
-
0035040534
-
Characterization of the mouse bile salt export pump overexpressed in the baculovirus system
-
Noe J, Hagenbuch B, Meier PJ, St-Pierre MV. Characterization of the mouse bile salt export pump overexpressed in the baculovirus system. Hepatology 2001;33:1223-31.
-
(2001)
Hepatology
, vol.33
, pp. 1223-1231
-
-
Noe, J.1
Hagenbuch, B.2
Meier, P.J.3
St-Pierre, M.V.4
-
36
-
-
0032540277
-
The sister of P-glycoprotein represents the canalicular bile salt export pump of mammalian liver
-
Gerloff T, Stieger B, Hagenbuch B, Madon J, Landmann L, Roth J, et al. The sister of P-glycoprotein represents the canalicular bile salt export pump of mammalian liver. J Biol Chem 1998;273:10046-50.
-
(1998)
J Biol Chem
, vol.273
, pp. 10046-10050
-
-
Gerloff, T.1
Stieger, B.2
Hagenbuch, B.3
Madon, J.4
Landmann, L.5
Roth, J.6
-
37
-
-
0036829089
-
The human bile salt export pump: Characterization of substrate specificity and identification of inhibitors
-
Byrne JA, Strautnieks SS, Mieli-Vergani G, Higgins CF, Linton KJ, Thompson RJ. The human bile salt export pump: characterization of substrate specificity and identification of inhibitors. Gastroenterology 2002;123:1649-58.
-
(2002)
Gastroenterology
, vol.123
, pp. 1649-1658
-
-
Byrne, J.A.1
Strautnieks, S.S.2
Mieli-Vergani, G.3
Higgins, C.F.4
Linton, K.J.5
Thompson, R.J.6
-
38
-
-
0036828271
-
Functional expression of the canalicular bile salt export pump of human liver
-
Noe J, Stieger B, Meier PJ. Functional expression of the canalicular bile salt export pump of human liver. Gastroenterology 2002;123:1659-66.
-
(2002)
Gastroenterology
, vol.123
, pp. 1659-1666
-
-
Noe, J.1
Stieger, B.2
Meier, P.J.3
-
39
-
-
0036790453
-
The role of bile salt export pump mutations in progressive familial intrahepatic cholestasis type II
-
Wang L, Soroka CJ, Boyer JL. The role of bile salt export pump mutations in progressive familial intrahepatic cholestasis type II. J Clin Invest 2002;110:965-72.
-
(2002)
J Clin Invest
, vol.110
, pp. 965-972
-
-
Wang, L.1
Soroka, C.J.2
Boyer, J.L.3
-
40
-
-
0035852720
-
Targeted inactivation of sister of P-glycoprotein gene (spgp) in mice results in nonprogressive but persistent intrahepatic cholestasis
-
Wang R, Salem M, Yousef IM, Tuchweber B, Lam P, Childs SJ, et al. Targeted inactivation of sister of P-glycoprotein gene (spgp) in mice results in nonprogressive but persistent intrahepatic cholestasis. Proc Natl Acad Sci USA 2001;98:2011-6.
-
(2001)
Proc Natl Acad Sci USA
, vol.98
, pp. 2011-2016
-
-
Wang, R.1
Salem, M.2
Yousef, I.M.3
Tuchweber, B.4
Lam, P.5
Childs, S.J.6
-
41
-
-
0344586817
-
Severe cholestasis induced by cholic acid feeding in knockout mice of sister of P-glycoprotein
-
Wang R, Lam P, Liu L, Forrest D, Yousef IM, Mignault D, et al. Severe cholestasis induced by cholic acid feeding in knockout mice of sister of P-glycoprotein. Hepatol 2003;38:1489-99.
-
(2003)
Hepatol
, vol.38
, pp. 1489-1499
-
-
Wang, R.1
Lam, P.2
Liu, L.3
Forrest, D.4
Yousef, I.M.5
Mignault, D.6
-
42
-
-
0040284751
-
Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis
-
de Vree JM, Jacquemin E, Sturm E, Cresteil D, Bosma PJ, Aten J, et al. Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis. Proc Natl Acad Sci USA 1998;95:282-7.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 282-287
-
-
De Vree, J.M.1
Jacquemin, E.2
Sturm, E.3
Cresteil, D.4
Bosma, P.J.5
Aten, J.6
-
43
-
-
0035045719
-
The wide spectrum of multidrug resistance 3 deficiency: From neonatal cholestasis to cirrhosis of adulthood
-
Jacquemin E, De Vree JM, Cresteil D, Sokal EM, Sturm E, Dumont M, et al. The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood. Gastroenterology 2001;120:1448-58.
-
(2001)
Gastroenterology
, vol.120
, pp. 1448-1458
-
-
Jacquemin, E.1
De Vree, J.M.2
Cresteil, D.3
Sokal, E.M.4
Sturm, E.5
Dumont, M.6
-
44
-
-
0037379732
-
A multidrug resistance 3 gene mutation causing cholelithiasis, cholestasis of pregnancy, and adulthood biliary cirrhosis
-
Lucena JF, Herrero JI, Quiroga J, Sangro B, Garcia-Foncillas J, Zabalegui N, et al. A multidrug resistance 3 gene mutation causing cholelithiasis, cholestasis of pregnancy, and adulthood biliary cirrhosis. Gastroenterology 2003;124:1037-42.
-
(2003)
Gastroenterology
, vol.124
, pp. 1037-1042
-
-
Lucena, J.F.1
Herrero, J.I.2
Quiroga, J.3
Sangro, B.4
Garcia-Foncillas, J.5
Zabalegui, N.6
-
45
-
-
0027363563
-
Homozygous disruption of the murine mdr2 P-glycoprotein gene leads to a complete absence of phospholipid from bile and to liver disease
-
Smit JJ, Schinkel AH, Oude Elferink RP, Groen AK, Wagenaar E, van Deemter L, et al. Homozygous disruption of the murine mdr2 P-glycoprotein gene leads to a complete absence of phospholipid from bile and to liver disease. Cell 1993;75:451-62.
-
(1993)
Cell
, vol.75
, pp. 451-462
-
-
Smit, J.J.1
Schinkel, A.H.2
Oude Elferink, R.P.3
Groen, A.K.4
Wagenaar, E.5
Van Deemter, L.6
-
46
-
-
0028307550
-
Phosphatidylcholine translocase: A physiological role for the mdr2 gene
-
Ruetz S, Gros P. Phosphatidylcholine translocase: a physiological role for the mdr2 gene. Cell 1994;77:1071-81.
-
(1994)
Cell
, vol.77
, pp. 1071-1081
-
-
Ruetz, S.1
Gros, P.2
-
47
-
-
0027969948
-
The human MDR3 P-glycoprotein promotes translocation of phosphatidylcholine through the plasma membrane of fibroblasts from transgenic mice
-
Smith AJ, Timmermans-Hereijgers JL, Roelofsen B, Wirtz KW, van Blitterswijk WJ, Smit JJ, et al. The human MDR3 P-glycoprotein promotes translocation of phosphatidylcholine through the plasma membrane of fibroblasts from transgenic mice. FEBS Lett 1994;354:263-6.
-
(1994)
FEBS Lett
, vol.354
, pp. 263-266
-
-
Smith, A.J.1
Timmermans-Hereijgers, J.L.2
Roelofsen, B.3
Wirtz, K.W.4
Van Blitterswijk, W.J.5
Smit, J.J.6
-
48
-
-
0001370913
-
Uncoupling of biliary phospholipid and cholesterol secretion in mice with reduced expression of mdr2 P-glycoprotein
-
Oude Elferink RP, Ottenhoff R, van Wijland M, Frijters CM, van Nieuwkerk C, Groen AK. Uncoupling of biliary phospholipid and cholesterol secretion in mice with reduced expression of mdr2 P-glycoprotein. J Lipid Res 1996; 37: 1065-75.
-
(1996)
J Lipid Res
, vol.37
, pp. 1065-1075
-
-
Oude Elferink, R.P.1
Ottenhoff, R.2
Van Wijland, M.3
Frijters, C.M.4
Van Nieuwkerk, C.5
Groen, A.K.6
-
49
-
-
11144246422
-
Disorders of Biliary Transport
-
Walker WA, Durie PR, Hamilton JR, Walker-Smith JA, Watkins JB, editors. New York: BC Decker, Inc.
-
Shneider BL. Disorders of Biliary Transport. In: Walker WA, Durie PR, Hamilton JR, Walker-Smith JA, Watkins JB, editors. Pediatric Gastrointestinal Disease. 3rd ed. New York: BC Decker, Inc.; 2000:928-38.
-
(2000)
Pediatric Gastrointestinal Disease. 3rd Ed.
, pp. 928-938
-
-
Shneider, B.L.1
-
50
-
-
0000627095
-
Familial Hepatocellular Cholestasis
-
Suchy FJ, Sokol RJ, Balistreri WF, editors. Philadelphia: Lippincott Williams & Wilkins
-
Whitington PF, Emerick KM, Suchy FJ. Familial Hepatocellular Cholestasis. In: Suchy FJ, Sokol RJ, Balistreri WF, editors. Liver Disease in Children. 2nd ed. Philadelphia: Lippincott Williams & Wilkins; 2001:315-26.
-
(2001)
Liver Disease in Children. 2nd Ed.
, pp. 315-326
-
-
Whitington, P.F.1
Emerick, K.M.2
Suchy, F.J.3
-
51
-
-
0037994064
-
Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT
-
Carlton VE, Harris BZ, Puffenberger EG, Batta AK, Knisely AS, Robinson DL, et al. Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. Nat Genet 2003;34:91-6.
-
(2003)
Nat Genet
, vol.34
, pp. 91-96
-
-
Carlton, V.E.1
Harris, B.Z.2
Puffenberger, E.G.3
Batta, A.K.4
Knisely, A.S.5
Robinson, D.L.6
-
52
-
-
0037025401
-
Participation of two members of the very long-chain acyl-CoA synthetase family in bile acid synthesis and recycling
-
Mihalik SJ, Steinberg SJ, Pei Z, Park J, Kim do G, Heinzer AK, et al. Participation of two members of the very long-chain acyl-CoA synthetase family in bile acid synthesis and recycling. J Biol Chem 2002;277:24771-9.
-
(2002)
J Biol Chem
, vol.277
, pp. 24771-24779
-
-
Mihalik, S.J.1
Steinberg, S.J.2
Pei, Z.3
Park, J.4
Do Kim, G.5
Heinzer, A.K.6
-
53
-
-
0001029439
-
Bile Secretion and the Enterohepatic Circulation of Bile Acids
-
Feldman M, Scharschmidt BF, Sleisenger MH, editors. Philadelphia: W.B. Saunders Company
-
Hofmann AF. Bile Secretion and the Enterohepatic Circulation of Bile Acids. In: Feldman M, Scharschmidt BF, Sleisenger MH, editors. Sleisenger & Fordtran's Gastrointestinal and Liver Disease. Volume 1. 6th ed. Philadelphia: W.B. Saunders Company; 1998:937-47.
-
(1998)
Sleisenger & Fordtran's Gastrointestinal and Liver Disease. Volume 1. 6th Ed.
, vol.1
, pp. 937-947
-
-
Hofmann, A.F.1
-
54
-
-
0020626591
-
The influence of bile salt structure on self-association in aqueous solutions
-
Roda A, Hofmann AF, Mysels KJ. The influence of bile salt structure on self-association in aqueous solutions. J Biol Chem 1983;258:6362-70.
-
(1983)
J Biol Chem
, vol.258
, pp. 6362-6370
-
-
Roda, A.1
Hofmann, A.F.2
Mysels, K.J.3
-
55
-
-
0037379362
-
Bile salt transporters: Molecular characterization, function, and regulation
-
Trauner M, Boyer JL. Bile salt transporters: molecular characterization, function, and regulation. Physiol Rev 2003;83:633-71.
-
(2003)
Physiol Rev
, vol.83
, pp. 633-671
-
-
Trauner, M.1
Boyer, J.L.2
-
56
-
-
0001854978
-
Disorders of Bile Acid Synthesis and Metabolism: A Metabolic Basis for Liver Disease
-
Suchy FJ, Sokol RJ, Balistreri WF, editors. Philadelphia: Lippincott Williams & Wilkins
-
Setchell KD, O'Connell NC. Disorders of Bile Acid Synthesis and Metabolism: A Metabolic Basis for Liver Disease. In: Suchy FJ, Sokol RJ, Balistreri WF, editors. Liver Disease in Children. 2nd ed. Philadelphia: Lippincott Williams & Wilkins; 2001:701-34.
-
(2001)
Liver Disease in Children. 2nd Ed.
, pp. 701-734
-
-
Setchell, K.D.1
O'Connell, N.C.2
-
57
-
-
0012149063
-
Absence of bile acid conjugation: A new inforn error in bile acid metabolism
-
Abstract
-
Setchell KDR, Heubi JE, O'Connell NC, Hofmann AF, Lavine JD. Absence of bile acid conjugation: a new inforn error in bile acid metabolism. Hepatology 1996;24:371A, Abstract.
-
(1996)
Hepatology
, vol.24
-
-
Setchell, K.D.R.1
Heubi, J.E.2
O'Connell, N.C.3
Hofmann, A.F.4
Lavine, J.D.5
-
59
-
-
0018214629
-
Morphological and functional changes in the tight junctions of the bile canaliculi induced by bile duct ligation
-
Koga A, Todo S. Morphological and functional changes in the tight junctions of the bile canaliculi induced by bile duct ligation. Cell Tissue Res 1978;195:267-76.
-
(1978)
Cell Tissue Res
, vol.195
, pp. 267-276
-
-
Koga, A.1
Todo, S.2
-
60
-
-
0029913760
-
Structure-function correlation of tight junctional impairment after intrahepatic and extrahepatic cholestasis in rat liver
-
Rahner C, Stieger B, Landmann L. Structure-function correlation of tight junctional impairment after intrahepatic and extrahepatic cholestasis in rat liver. Gastroenterology 1996;110:1564-78.
-
(1996)
Gastroenterology
, vol.110
, pp. 1564-1578
-
-
Rahner, C.1
Stieger, B.2
Landmann, L.3
-
61
-
-
0034988157
-
Alterations in tight junctions differ between primary biliary cirrhosis and primary sclerosing cholangitis
-
Sakisaka S, Kawaguchi T, Taniguchi E, Hanada S, Sasatomi K, Koga H, et al. Alterations in tight junctions differ between primary biliary cirrhosis and primary sclerosing cholangitis. Hepatology 2001;33:1460-8.
-
(2001)
Hepatology
, vol.33
, pp. 1460-1468
-
-
Sakisaka, S.1
Kawaguchi, T.2
Taniguchi, E.3
Hanada, S.4
Sasatomi, K.5
Koga, H.6
-
62
-
-
0029981999
-
Leaky junctions and cholestasis: A tight correlation
-
Anderson JM. Leaky junctions and cholestasis: a tight correlation. Gastroenterology 1996;110:1662-5.
-
(1996)
Gastroenterology
, vol.110
, pp. 1662-1665
-
-
Anderson, J.M.1
-
63
-
-
0141655247
-
Inhibition of human m-expoxide hydrolase gene expression in a case of hypercholanemia
-
Zhu Q, Xing W, Qian B, von Dippe P, Shneider BL, Fox VL, et al. Inhibition of human m-expoxide hydrolase gene expression in a case of hypercholanemia. Biochim Biophys Acta 2003;1638:208-16.
-
(2003)
Biochim Biophys Acta
, vol.1638
, pp. 208-216
-
-
Zhu, Q.1
Xing, W.2
Qian, B.3
Von Dippe, P.4
Shneider, B.L.5
Fox, V.L.6
-
64
-
-
18644377817
-
Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28
-
Baala L, Hadj-Rabia S, Hamel-Teillac D, Hadchouel M, Prost C, Leal SM, et al. Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28. J Invest Dermatol 2002;119:70-6.
-
(2002)
J Invest Dermatol
, vol.119
, pp. 70-76
-
-
Baala, L.1
Hadj-Rabia, S.2
Hamel-Teillac, D.3
Hadchouel, M.4
Prost, C.5
Leal, S.M.6
-
65
-
-
11144222326
-
Claudin-1 gene mutation in Neonatal ichthyosis-Sclerosing cholangitis
-
Abstract
-
Hadj-Rabia S, Baala L, Vabres P, Fabre M, Jacquemin E, Lyonnet S, et al. Claudin-1 gene mutation in Neonatal ichthyosis-Sclerosing cholangitis. Am J Hum Genet 2003;73:167, Abstract.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 167
-
-
Hadj-Rabia, S.1
Baala, L.2
Vabres, P.3
Fabre, M.4
Jacquemin, E.5
Lyonnet, S.6
-
66
-
-
0037128938
-
Claudin-based tight junctions are crucial for the mammalian epidermal barrier: A lesson from claudin-1-deficient mice
-
Furuse M, Hata M, Furuse K, Yoshida Y, Haratake A, Sugitani Y, et al. Claudin-based tight junctions are crucial for the mammalian epidermal barrier: a lesson from claudin-1-deficient mice. J Cell Biol 2002;156:1099-111.
-
(2002)
J Cell Biol
, vol.156
, pp. 1099-1111
-
-
Furuse, M.1
Hata, M.2
Furuse, K.3
Yoshida, Y.4
Haratake, A.5
Sugitani, Y.6
-
67
-
-
0036918537
-
A missense mutation (R565W) in cirrhin (FLJ14728) in North American Indian childhood cirrhosis
-
Chagnon P, Michaud J, Mitchell G, Mercier J, Marion JF, Drouin E, et al. A missense mutation (R565W) in cirrhin (FLJ14728) in North American Indian childhood cirrhosis. Am J Hum Genet 2002;71:1443-9.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 1443-1449
-
-
Chagnon, P.1
Michaud, J.2
Mitchell, G.3
Mercier, J.4
Marion, J.F.5
Drouin, E.6
-
68
-
-
0033809652
-
North American Indian cirrhosis in children: A review of 30 cases
-
Drouin E, Russo P, Tuchweber B, Mitchell GA, Rasquin-Weber A. North American Indian cirrhosis in children: A review of 30 cases. J Pediatr Gastroenterol Nutr 2000;31:395-404.
-
(2000)
J Pediatr Gastroenterol Nutr
, vol.31
, pp. 395-404
-
-
Drouin, E.1
Russo, P.2
Tuchweber, B.3
Mitchell, G.A.4
Rasquin-Weber, A.5
-
69
-
-
0028076764
-
The ancient regulatory-protein family of WD-repeat proteins
-
Neer EJ, Schmidt CJ, Nambudripad R, Smith TF. The ancient regulatory-protein family of WD-repeat proteins. Nature 1994;371:297-300.
-
(1994)
Nature
, vol.371
, pp. 297-300
-
-
Neer, E.J.1
Schmidt, C.J.2
Nambudripad, R.3
Smith, T.F.4
-
70
-
-
0030914459
-
Mutations in the human Jagged1 gene are responsible for Alagille syndrome
-
Oda T, Elkahloun AG, Pike BL, Okajima K, Krantz ID, Genin A, et al. Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nat Genet 1997;16:235-42.
-
(1997)
Nat Genet
, vol.16
, pp. 235-242
-
-
Oda, T.1
Elkahloun, A.G.2
Pike, B.L.3
Okajima, K.4
Krantz, I.D.5
Genin, A.6
-
71
-
-
0038875342
-
Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1
-
Li L, Krantz ID, Deng Y, Genin A, Banta AB, Collins CC, et al. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat Genet 1997;16:243-51.
-
(1997)
Nat Genet
, vol.16
, pp. 243-251
-
-
Li, L.1
Krantz, I.D.2
Deng, Y.3
Genin, A.4
Banta, A.B.5
Collins, C.C.6
-
72
-
-
0035173811
-
Jagged1 mutations in Alagille syndrome
-
Spinner NB, Colliton RP, Crosnier C, Krantz ID, Hadchouel M, Meunier-Rotival M. Jagged1 mutations in Alagille syndrome. Hum Mutat 2001;17:18-33.
-
(2001)
Hum Mutat
, vol.17
, pp. 18-33
-
-
Spinner, N.B.1
Colliton, R.P.2
Crosnier, C.3
Krantz, I.D.4
Hadchouel, M.5
Meunier-Rotival, M.6
-
73
-
-
0037209047
-
Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome
-
Ropke A, Kujat A, Graber M, Giannakudis J, Hansmann I. Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome. Hum Mutat 2003;21:100.
-
(2003)
Hum Mutat
, vol.21
, pp. 100
-
-
Ropke, A.1
Kujat, A.2
Graber, M.3
Giannakudis, J.4
Hansmann, I.5
-
74
-
-
0036884293
-
DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients
-
Heritage ML, MacMillan JC, Anderson GJ. DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients. Hum Mutat 2002;20:481.
-
(2002)
Hum Mutat
, vol.20
, pp. 481
-
-
Heritage, M.L.1
MacMillan, J.C.2
Anderson, G.J.3
-
75
-
-
0021341222
-
Arteriohepatic dysplasia: Phenotypic features and family studies
-
Mueller RF, Pagon RA, Pepin MG, Haas JE, Kawabori I, Stevenson JG, et al. Arteriohepatic dysplasia: phenotypic features and family studies. Clin Genet 1984;25:323-31.
-
(1984)
Clin Genet
, vol.25
, pp. 323-331
-
-
Mueller, R.F.1
Pagon, R.A.2
Pepin, M.G.3
Haas, J.E.4
Kawabori, I.5
Stevenson, J.G.6
-
76
-
-
0035203709
-
Alagille syndrome and the Jagged1 gene
-
Piccoli DA, Spinner NB. Alagille syndrome and the Jagged1 gene. Semin Liver Dis 2001;21:525-34.
-
(2001)
Semin Liver Dis
, vol.21
, pp. 525-534
-
-
Piccoli, D.A.1
Spinner, N.B.2
-
77
-
-
0036808221
-
Monozygotic twins with a severe form of Alagille syndrome and phenotypic discordance
-
Kamath BM, Krantz ID, Spinner NB, Heubi JE, Piccoli DA. Monozygotic twins with a severe form of Alagille syndrome and phenotypic discordance. Am J Med Genet 2002;112:194-7.
-
(2002)
Am J Med Genet
, vol.112
, pp. 194-197
-
-
Kamath, B.M.1
Krantz, I.D.2
Spinner, N.B.3
Heubi, J.E.4
Piccoli, D.A.5
-
78
-
-
0033835522
-
Jagged1 expression in human embryos: Correlation with the Alagille syndrome phenotype
-
Jones EA, Clement-Jones M, Wilson DI. Jagged1 expression in human embryos: correlation with the Alagille syndrome phenotype. J Med Genet 2000;37:658-62.
-
(2000)
J Med Genet
, vol.37
, pp. 658-662
-
-
Jones, E.A.1
Clement-Jones, M.2
Wilson, D.I.3
-
79
-
-
0033839965
-
Jagged1 gene expression during human embryogenesis elucidates the wide phenotypic spectrum of Alagille syndrome
-
Crosnier C, Attie-Bitach T, Encha-Razavi F, Audollent S, Soudy F, Hadchouel M, et al. Jagged1 gene expression during human embryogenesis elucidates the wide phenotypic spectrum of Alagille syndrome. Hepatology 2000;32:574-81.
-
(2000)
Hepatology
, vol.32
, pp. 574-581
-
-
Crosnier, C.1
Attie-Bitach, T.2
Encha-Razavi, F.3
Audollent, S.4
Soudy, F.5
Hadchouel, M.6
-
80
-
-
0032737819
-
Hapatic Jagged1 expression studies
-
Louis AA, Van Eyken P, Haber BA, Hicks C, Weinmaster G, Taub R, et al. Hapatic Jagged1 expression studies. Hepatology 1999;30:1269-75.
-
(1999)
Hepatology
, vol.30
, pp. 1269-1275
-
-
Louis, A.A.1
Van Eyken, P.2
Haber, B.A.3
Hicks, C.4
Weinmaster, G.5
Taub, R.6
-
81
-
-
0035864903
-
Defective intracellular transport and processing of Jag1 missense mutations in Alagille syndrome
-
Morrissette JJD, Colliton RP, Spinner NB. Defective intracellular transport and processing of Jag1 missense mutations in Alagille syndrome. Hum Mol Genet 2001;10:405-13.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 405-413
-
-
Morrissette, J.J.D.1
Colliton, R.P.2
Spinner, N.B.3
-
82
-
-
0037383967
-
Conditional JAG1 mutation shows the developing heart is more sensitive than developing liver to JAG1 dosage
-
Lu F, Morrissette JJ, Spinner NB. Conditional JAG1 mutation shows the developing heart is more sensitive than developing liver to JAG1 dosage. Am J Hum Genet 2003;72:1065-70.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 1065-1070
-
-
Lu, F.1
Morrissette, J.J.2
Spinner, N.B.3
-
83
-
-
0032897080
-
Embryonic lethality and vascular defects in mice lacking the Notch ligand Jagged1
-
Xue Y, Gao X, Lindsell CE, Norton CR, Chang B, Hicks C, et al. Embryonic lethality and vascular defects in mice lacking the Notch ligand Jagged1. Hum Mol Genet 1999;8:723-30.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 723-730
-
-
Xue, Y.1
Gao, X.2
Lindsell, C.E.3
Norton, C.R.4
Chang, B.5
Hicks, C.6
-
84
-
-
0036339631
-
A mouse model of Alagille syndrome: Notch2 as a genetic modifier of Jag1 haploinsufficiency
-
McCright B, Lozier J, Gridley T. A mouse model of Alagille syndrome: Notch2 as a genetic modifier of Jag1 haploinsufficiency. Development 2002;129:1075-82.
-
(2002)
Development
, vol.129
, pp. 1075-1082
-
-
McCright, B.1
Lozier, J.2
Gridley, T.3
-
85
-
-
12144290067
-
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, et al. Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. Nat Genet 2004;36:400-4.
-
(2004)
Nat Genet
, vol.36
, pp. 400-404
-
-
Gissen, P.1
Johnson, C.A.2
Morgan, N.V.3
Stapelbroek, J.M.4
Forshew, T.5
Cooper, W.N.6
-
86
-
-
0034684727
-
Autosomal dominant benign recurrent intrahepatic cholestasis (BRIC) unlinked to 18q21 and 2q24
-
Floreani A, Molaro M, Mottes M, Sangalli A, Baragiotta A, Roda A, et al. Autosomal dominant benign recurrent intrahepatic cholestasis (BRIC) unlinked to 18q21 and 2q24. Am J Med Genet 2000;95:450-3.
-
(2000)
Am J Med Genet
, vol.95
, pp. 450-453
-
-
Floreani, A.1
Molaro, M.2
Mottes, M.3
Sangalli, A.4
Baragiotta, A.5
Roda, A.6
-
87
-
-
0005915501
-
There must be a third locus for low GGT PFIC
-
Abstract
-
Strautnieks S, Byrne J, Knisely AS, Bull LN, Sokal E, Lacaille F, et al. There must be a third locus for low GGT PFIC. Hepatology 2001;34:240A, Abstract.
-
(2001)
Hepatology
, vol.34
-
-
Strautnieks, S.1
Byrne, J.2
Knisely, A.S.3
Bull, L.N.4
Sokal, E.5
Lacaille, F.6
-
88
-
-
0034989076
-
Progressive familial intrahepatic cholestasis with high gamma glutamyltranspeptidase levels in Taiwanese infants: Role of MDR3 gene defect?
-
Chen HL, Chang PS, Hsu HC, Lee JH, Ni YH, Hsu HY, et al. Progressive familial intrahepatic cholestasis with high gamma glutamyltranspeptidase levels in Taiwanese infants: role of MDR3 gene defect? Pediatr Res 2001;50:50-5.
-
(2001)
Pediatr Res
, vol.50
, pp. 50-55
-
-
Chen, H.L.1
Chang, P.S.2
Hsu, H.C.3
Lee, J.H.4
Ni, Y.H.5
Hsu, H.Y.6
-
89
-
-
0038121763
-
Genetic evidence of heterogeneity in intrahepatic cholestasis of pregnancy
-
Savander M, Ropponen A, Avela K, Weerasekera N, Cormand B, Hirvioja ML, et al. Genetic evidence of heterogeneity in intrahepatic cholestasis of pregnancy. Gut 2003;52:1025-9.
-
(2003)
Gut
, vol.52
, pp. 1025-1029
-
-
Savander, M.1
Ropponen, A.2
Avela, K.3
Weerasekera, N.4
Cormand, B.5
Hirvioja, M.L.6
-
91
-
-
0031948707
-
Hereditary cholestasis with lymphoedema (Aagenaes syndrome, cholestasis-lymphoedema syndrome). New cases and follow-up from infancy to adult age
-
Aagenaes O. Hereditary cholestasis with lymphoedema (Aagenaes syndrome, cholestasis-lymphoedema syndrome). New cases and follow-up from infancy to adult age. Scand J Gastroenterol 1998;33:335-45.
-
(1998)
Scand J Gastroenterol
, vol.33
, pp. 335-345
-
-
Aagenaes, O.1
-
92
-
-
0033795071
-
Mapping of the locus for cholestasis-lymphedema syndrome (Aagenaes syndrome) to a 6.6-cM interval on chromosome 15q
-
Bull LN, Roche E, Song EJ, Pedersen J, Knisely AS, van Der Hagen CB, et al. Mapping of the locus for cholestasis-lymphedema syndrome (Aagenaes syndrome) to a 6.6-cM interval on chromosome 15q. Am J Hum Genet 2000;67:994-9.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 994-999
-
-
Bull, L.N.1
Roche, E.2
Song, E.J.3
Pedersen, J.4
Knisely, A.S.5
Van Der Hagen, C.B.6
-
93
-
-
0242416619
-
Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome
-
Fruhwirth M, Janecke AR, Muller T, Carlton VEH, Kronenberg F, Offner F, et al. Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome. J Pediatr 2003;142:441-7.
-
(2003)
J Pediatr
, vol.142
, pp. 441-447
-
-
Fruhwirth, M.1
Janecke, A.R.2
Muller, T.3
Carlton, V.E.H.4
Kronenberg, F.5
Offner, F.6
-
94
-
-
0030772575
-
Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome)
-
Morris AAM, Sequeira JSS, Malone M, Slaney SF, Clayton PT. Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome). J Med Genet 1997;34:852-3.
-
(1997)
J Med Genet
, vol.34
, pp. 852-853
-
-
Morris, A.A.M.1
Sequeira, J.S.S.2
Malone, M.3
Slaney, S.F.4
Clayton, P.T.5
-
95
-
-
0017407580
-
Studies of the aetiology of neonatal hepatitis and biliary atresia
-
Danks DM, Campbell PE, Jack I, Rogers J, Smith AL. Studies of the aetiology of neonatal hepatitis and biliary atresia. Arch Dis Child 1997;52:360-7.
-
(1997)
Arch Dis Child
, vol.52
, pp. 360-367
-
-
Danks, D.M.1
Campbell, P.E.2
Jack, I.3
Rogers, J.4
Smith, A.L.5
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