-
2
-
-
0031948707
-
Hereditary cholestasis with lymphoedema (Aagenaes syndrome, cholestasis-lymphoedema syndrome): New cases and follow-up from infancy to adult age
-
(1998)
Scand J Gastroenterol
, vol.33
, pp. 335-345
-
-
Aagenaes, O.1
-
6
-
-
0031907132
-
A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis
-
(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
Klomp, L.W.7
Lomri, N.8
Berger, R.9
Scharschmidt, B.F.10
Knisely, A.S.11
Houwen, R.H.12
Freimer, N.B.13
-
7
-
-
0040284751
-
Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis
-
(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
Deleuze, J.F.7
Desrochers, M.8
Burdelski, M.9
Bernard, O.10
Oude Elferink, R.P.11
Hadchouel, M.12
-
8
-
-
0033070198
-
Mapping of primary congenital lymphedema to the 5q35.3 region
-
(1999)
Am J Hum Genet
, vol.64
, pp. 547-555
-
-
Evans, A.L.1
Brice, G.2
Sotirova, V.3
Mortimer, P.4
Beninson, J.5
Burnand, K.6
Rosbotham, J.7
Child, A.8
Sarfarazi, M.9
-
10
-
-
0032540277
-
The sister of P-glycoprotein represents the canalicular bile salt export pump of mammalian liver
-
(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
Hofmann, A.F.7
Meier, P.J.8
-
12
-
-
0024792730
-
Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation
-
(1989)
Am J Med Genet
, vol.34
, pp. 593-600
-
-
Hennekam, R.C.M.1
Geerdink, R.A.2
Hamel, B.C.J.3
Hennekam, F.A.M.4
Kraus, P.5
Rammeloo, J.A.6
Tillemans, A.A.W.7
-
14
-
-
0034041161
-
Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema
-
(2000)
Nat Genet
, vol.25
, pp. 153-159
-
-
Karkkainen, M.J.1
Ferrell, R.E.2
Lawrence, E.C.3
Kimak, M.A.4
Levinson, K.L.5
McTigue, M.A.6
Alitalo, K.7
Finegold, D.N.8
-
16
-
-
0038875342
-
Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1
-
(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
Qi, M.7
Trask, B.J.8
Kuo, W.L.9
Cochran, J.10
Costa, T.11
Pierpont, M.E.12
Rand, E.B.13
Piccoli, D.A.14
Hood, L.15
Spinner, N.B.16
-
17
-
-
0033365204
-
A gene for lymphedema-distichiasis maps to 16q24.3
-
(1999)
Am J Hum Genet
, vol.65
, pp. 427-432
-
-
Mangion, J.1
Rahman, N.2
Mansour, S.3
Brice, G.4
Rosbotham, J.5
Child, A.H.6
Murday, V.A.7
Mortimer, P.S.8
Barfoot, R.9
Sigurdsson, A.10
-
19
-
-
0030914459
-
Mutations in the human Jagged1 gene are responsible for Alagille syndrome
-
(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
Piccoli, D.A.7
Meltzer, P.S.8
Spinner, N.B.9
Collins, F.S.10
Chandrasekharappa, S.C.11
-
25
-
-
17344366172
-
A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis
-
(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
Sokal, E.7
Dahan, K.8
Childs, S.9
Ling, V.10
Tanner, M.S.11
Kagalwalla, A.F.12
Naemeth, A.13
Pawlowska, J.14
Baker, A.15
Mieli-Vergani, G.16
Freimer, N.B.17
Gardiner, R.M.18
Thompson, R.J.19
-
27
-
-
0032445649
-
Phenotypic and genotypic heterogeneity in familial Milroy lymphedema
-
(1998)
Lymphology
, vol.31
, pp. 145-155
-
-
Witte, M.H.1
Erickson, R.2
Bernas, M.3
Andrade, M.4
Reiser, F.5
Conlon, W.6
Hoyme, H.E.7
Witte, C.L.8
|