-
1
-
-
0014442684
-
Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred
-
RJ Clayton FL Iber BH Ruebner VA McKusick Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred Am J Dis Child 117 1969 112 124
-
(1969)
Am J Dis Child
, vol.117
, pp. 112-124
-
-
Clayton, RJ1
Iber, FL2
Ruebner, BH3
McKusick, VA4
-
2
-
-
0029038668
-
Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region
-
VE Carlton AS Knisely NB Freimer Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region Hum Mol Genet 4 1995 1049 1053
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1049-1053
-
-
Carlton, VE1
Knisely, AS2
Freimer, NB3
-
4
-
-
0030883375
-
Benign recurrent intrahepatic cholestasis (BRIC): evidence of genetic heterogeneity and delimitation of the BRIC locus to a 7-cM interval between D18S69 and D18S64
-
RJ Sinke VEH Carlton JA Juijn T Delhaas L Bull GP van Berge Henegouwen J van Hattum KM Keller M Sinaasappel CMA Bijleveld IE Knol H-K Ploos van Amstel PL Pearson R Berger NB Freimer RHJ Houwen Benign recurrent intrahepatic cholestasis (BRIC): evidence of genetic heterogeneity and delimitation of the BRIC locus to a 7-cM interval between D18S69 and D18S64 Hum Genet 100 1997 382 387
-
(1997)
Hum Genet
, vol.100
, pp. 382-387
-
-
Sinke, RJ1
Carlton, VEH2
Juijn, JA3
Delhaas, T4
Bull, L5
van Berge Henegouwen, GP6
van Hattum, J7
Keller, KM8
Sinaasappel, M9
Bijleveld, CMA10
Knol, IE11
Ploos van Amstel, H-K12
Pearson, PL13
Berger, R14
Freimer, NB15
Houwen, RHJ16
-
5
-
-
0031907132
-
A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis
-
LN Bull MJT van Eijk L Pawlikowska JA DeYoung JA Juijn M Liao LWJ Klomp N Lomri R Berger BF Scharschmidt AS Knisely RHJ Houwen NB Freimer A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis Nat Genet 18 1998 219 224
-
(1998)
Nat Genet
, vol.18
, pp. 219-224
-
-
Bull, LN1
van Eijk, MJT2
Pawlikowska, L3
DeYoung, JA4
Juijn, JA5
Liao, M6
Klomp, LWJ7
Lomri, N8
Berger, R9
Scharschmidt, BF10
Knisely, AS11
Houwen, RHJ12
Freimer, NB13
-
6
-
-
12644268207
-
Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): evidence for heterogeneity
-
LN Bull VE Carlton NL Stricker S Baharloo JA DeYoung NB Freimer MS Magid E Kahn J Markowitz FJ DiCarlo L McLoughlin JT Boyle BB Dahms PR Faught JF Fitzgerald DA Picoli CL Witzleben NC O'Connell KDR Setchell RM Agostini SA Kocoshis J Reyes AS Knisely Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): evidence for heterogeneity Hepatology 26 1997 155 164
-
(1997)
Hepatology
, vol.26
, pp. 155-164
-
-
Bull, LN1
Carlton, VE2
Stricker, NL3
Baharloo, S4
DeYoung, JA5
Freimer, NB6
Magid, MS7
Kahn, E8
Markowitz, J9
DiCarlo, FJ10
McLoughlin, L11
Boyle, JT12
Dahms, BB13
Faught, PR14
Fitzgerald, JF15
Picoli, DA16
Witzleben, CL17
O'Connell, NC18
Setchell, KDR19
Agostini, RM20
Kocoshis, SA21
Reyes, J22
Knisely, AS23
more..
-
8
-
-
0027318684
-
Linkage studies of cholestasis familiaris groenlandica/Byler-like disease with polymorphic protein and blood group markers
-
H Eiberg IM Nielsen Linkage studies of cholestasis familiaris groenlandica/Byler-like disease with polymorphic protein and blood group markers Hum Hered 43 1993 250 256
-
(1993)
Hum Hered
, vol.43
, pp. 250-256
-
-
Eiberg, H1
Nielsen, IM2
-
10
-
-
0030930297
-
Progressive familial intrahepatic cholestasis (PFIC): evidence for genetic heterogeneity by exclusion of linkage to chromosome 18q21-q22
-
H Arnell A Nemeth G Anneren N Dahl Progressive familial intrahepatic cholestasis (PFIC): evidence for genetic heterogeneity by exclusion of linkage to chromosome 18q21-q22 Hum Genet 100 1997 378 381
-
(1997)
Hum Genet
, vol.100
, pp. 378-381
-
-
Arnell, H1
Nemeth, A2
Anneren, G3
Dahl, N4
-
11
-
-
0030869696
-
Identification of a locus for progressive familial intrahepatic cholestasis (PFIC2) on chromosome 2q24
-
SS Strautnieks AF Kagalwalla MS Tanner AS Knisely LN Bull NB Freimer SA Kocoshis RM Gardiner RJ Thompson Identification of a locus for progressive familial intrahepatic cholestasis (PFIC2) on chromosome 2q24 Am J Hum Genet 61 1997 630 633
-
(1997)
Am J Hum Genet
, vol.61
, pp. 630-633
-
-
Strautnieks, SS1
Kagalwalla, AF2
Tanner, MS3
Knisely, AS4
Bull, LN5
Freimer, NB6
Kocoshis, SA7
Gardiner, RM8
Thompson, RJ9
-
12
-
-
17344366172
-
A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis
-
SS Strautnieks LN Bull AS Knisely SA Kocoshis N Dahl H Arnell E Sokal K Dahan S Childs V Ling MS Taner AF Kgalwalla A Nemeth J Pawlowska A Baker G Mieli-Vergani NB Breimer RM Gardiner RJ Thompson A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis Nat Genet 20 1998 233 238
-
(1998)
Nat Genet
, vol.20
, pp. 233-238
-
-
Strautnieks, SS1
Bull, LN2
Knisely, AS3
Kocoshis, SA4
Dahl, N5
Arnell, H6
Sokal, E7
Dahan, K8
Childs, S9
Ling, V10
Taner, MS11
Kgalwalla, AF12
Nemeth, A13
Pawlowska, J14
Baker, A15
Mieli-Vergani, G16
Breimer, NB17
Gardiner, RM18
Thompson, RJ19
-
13
-
-
0030753125
-
Molecular aspects of hepatobiliary transport
-
M Müller PLM Jansen Molecular aspects of hepatobiliary transport Am J Physiol 272 1997 G1285 G1303
-
(1997)
Am J Physiol
, vol.272
, pp. G1285-G1303
-
-
Müller, M1
Jansen, PLM2
-
14
-
-
0029022589
-
Identification of a sister gene to P-glycoprotein
-
S Childs RL Yeh E Georges V Ling Identification of a sister gene to P-glycoprotein Cancer Res 55 1995 2029 2034
-
(1995)
Cancer Res
, vol.55
, pp. 2029-2034
-
-
Childs, S1
Yeh, RL2
Georges, E3
Ling, V4
-
15
-
-
0032540277
-
The sister of P-glycoprotein represents the canalicular bile salt export pump of mammalian liver
-
T Gerloff B Stieger B Hagenbuch J Madon L Landmann J Roth AF Hofmann PJ Meier The sister of P-glycoprotein represents the canalicular bile salt export pump of mammalian liver J Biol Chem 273 1998 10046 10050
-
(1998)
J Biol Chem
, vol.273
, pp. 10046-10050
-
-
Gerloff, T1
Stieger, B2
Hagenbuch, B3
Madon, J4
Landmann, L5
Roth, J6
Hofmann, AF7
Meier, PJ8
-
16
-
-
0031738416
-
Upregulation of the multidrug resistance genes, mrp1 and mdr1b, and down-regulation of the organic anion transporter, mrp2, and the bile salt transporter, Spgp, in endotoxemic rat liver
-
TA Vos GJEJ Hooiveld H Koning S Childs DKF Meijer H Moshage PLM Jansen M Müller Upregulation of the multidrug resistance genes, mrp1 and mdr1b , and down-regulation of the organic anion transporter, mrp2, and the bile salt transporter, Spgp, in endotoxemic rat liver Hepatology 28 1998 1637 1644
-
(1998)
Hepatology
, vol.28
, pp. 1637-1644
-
-
Vos, TA1
Hooiveld, GJEJ2
Koning, H3
Childs, S4
Meijer, DKF5
Moshage, H6
Jansen, PLM7
Müller, M8
-
17
-
-
0024349446
-
Benign recurrent intrahepatic cholestasis: altered bile acid metabolism
-
CMA Bijleveld RJ Vonk F Kuipers R Havinga R Boverhof BJ Koopman BG Wothers J Fernandes Benign recurrent intrahepatic cholestasis: altered bile acid metabolism Gastroenterology 97 1989 427 432
-
(1989)
Gastroenterology
, vol.97
, pp. 427-432
-
-
Bijleveld, CMA1
Vonk, RJ2
Kuipers, F3
Havinga, R4
Boverhof, R5
Koopman, BJ6
Wothers, BG7
Fernandes, J8
-
18
-
-
0028303784
-
Evidence for defective primary bile acid secretion in children with progressive familial intrahepatic cholestasis (Byler disease)
-
E Jacquemin M Dumont O Bernard S Erlinger M Hadchouel Evidence for defective primary bile acid secretion in children with progressive familial intrahepatic cholestasis (Byler disease) Eur J Pediatr 153 1994 424 428
-
(1994)
Eur J Pediatr
, vol.153
, pp. 424-428
-
-
Jacquemin, E1
Dumont, M2
Bernard, O3
Erlinger, S4
Hadchouel, M5
-
20
-
-
0020594216
-
Measurement of bile acid kinetics in human serum using stable isotope labeled chenodeoxycholic acid and capillary gas chromatography electron impact mass spectrometry
-
F Stellaard R Schubert G Paumgartner Measurement of bile acid kinetics in human serum using stable isotope labeled chenodeoxycholic acid and capillary gas chromatography electron impact mass spectrometry Biomed Mass Spectrom 10 1983 187 191
-
(1983)
Biomed Mass Spectrom
, vol.10
, pp. 187-191
-
-
Stellaard, F1
Schubert, R2
Paumgartner, G3
-
21
-
-
33845261493
-
A rapid method of total lipid extraction and purification
-
EG Bligh WJ Dyer A rapid method of total lipid extraction and purification Can J Biochem Biophys 37 1959 911 917
-
(1959)
Can J Biochem Biophys
, vol.37
, pp. 911-917
-
-
Bligh, EG1
Dyer, WJ2
-
22
-
-
0040284751
-
Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis
-
JML de Vree E Jacquemin E Sturm D Cresteil PJ Bosma J Aten J-F Deleuze M Desrochers M Burdelski O Bernard RPJ Oude Elferink M Hadchouel Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis Proc Natl Acad Sci USA 95 1998 282 287
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 282-287
-
-
de Vree, JML1
Jacquemin, E2
Sturm, E3
Cresteil, D4
Bosma, PJ5
Aten, J6
Deleuze, J-F7
Desrochers, M8
Burdelski, M9
Bernard, O10
Oude Elferink, RPJ11
Hadchouel, M12
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