-
1
-
-
0003041360
-
L'atresie des voies biliaires extrahepatiques permeables chez l'enfant
-
D. Alagille, E.C. Habib, and N. Thomassin L'atresie des voies biliaires extrahepatiques permeables chez l'enfant J Par Pediatr 1969 301
-
(1969)
J Par Pediatr
, pp. 301
-
-
Alagille, D.1
Habib, E.C.2
Thomassin, N.3
-
2
-
-
0016439420
-
Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur
-
D. Alagille, M. Odievre, M. Gautier, and J.P. Dommergues Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur J Pediatr 86 1 1975 63 71
-
(1975)
J Pediatr
, vol.86
, Issue.1
, pp. 63-71
-
-
Alagille, D.1
Odievre, M.2
Gautier, M.3
Dommergues, J.P.4
-
3
-
-
0015787705
-
Arteriohepatic dysplasia: Familial pulmonary arterial stenosis with neonatal liver disease
-
G.H. Watson, and V. Miller Arteriohepatic dysplasia: familial pulmonary arterial stenosis with neonatal liver disease Arch Dis Child 48 6 1973 459 466
-
(1973)
Arch Dis Child
, vol.48
, Issue.6
, pp. 459-466
-
-
Watson, G.H.1
Miller, V.2
-
4
-
-
0018628024
-
Arteriohepatic dysplasia: A benign syndrome of intrahepatic cholestasis with multiple organ involvement
-
C.A. Riely, E. Cotlier, P.S. Jensen, and G. Klatskin Arteriohepatic dysplasia: a benign syndrome of intrahepatic cholestasis with multiple organ involvement Ann Intern Med 91 1979 520 527
-
(1979)
Ann Intern Med
, vol.91
, pp. 520-527
-
-
Riely, C.A.1
Cotlier, E.2
Jensen, P.S.3
Klatskin, G.4
-
5
-
-
0017065486
-
Syndrome of intrahepatic biliary dysgenesis and cardiovascular malformations
-
R.D. Greenwood, A. Rosenthal, A.C. Crocker, and A.S. Nadas Syndrome of intrahepatic biliary dysgenesis and cardiovascular malformations Pediatric 58 1976 243 247
-
(1976)
Pediatric
, vol.58
, pp. 243-247
-
-
Greenwood, R.D.1
Rosenthal, A.2
Crocker, A.C.3
Nadas, A.S.4
-
6
-
-
0017578990
-
Hereditary cholestasis combined with peripheral pulmonary stenosis and other anomalies
-
N.T. Henriksen, F. Langmark, and S.J. Sorland Hereditary cholestasis combined with peripheral pulmonary stenosis and other anomalies Acta Paediatr Scand 66 1977 7 15
-
(1977)
Acta Paediatr Scand
, vol.66
, pp. 7-15
-
-
Henriksen, N.T.1
Langmark, F.2
Sorland, S.J.3
-
7
-
-
0019459469
-
Anterior segment and retinal pigmentary abnormalities in arteriohepatic dysplasia
-
J.E. Puklin, C.A. Riely, R.M. Simon, and E. Cotlier Anterior segment and retinal pigmentary abnormalities in arteriohepatic dysplasia Ophthalmology 88 1981 337 347
-
(1981)
Ophthalmology
, vol.88
, pp. 337-347
-
-
Puklin, J.E.1
Riely, C.A.2
Simon, R.M.3
Cotlier, E.4
-
8
-
-
0019187730
-
Arteriohepatic dysplasia: Radiologic features of a new syndrome
-
N.S. Rosenfield, M.J. Kelley, and P.S. Jensen Arteriohepatic dysplasia: radiologic features of a new syndrome Am J Roentgenol 135 1980 1217 1223
-
(1980)
Am J Roentgenol
, vol.135
, pp. 1217-1223
-
-
Rosenfield, N.S.1
Kelley, M.J.2
Jensen, P.S.3
-
9
-
-
0021341222
-
Arteriohepatic dysplasia: Phenotypic features and family studies
-
R.F. Mueller, R.A. Pagon, and M.G. Pepin Arteriohepatic dysplasia: phenotypic features and family studies Clin Genet 25 1984 323 331
-
(1984)
Clin Genet
, vol.25
, pp. 323-331
-
-
Mueller, R.F.1
Pagon, R.A.2
Pepin, M.G.3
-
11
-
-
0028269284
-
Arteriohepatic dysplasia and cardiovascular malformations
-
M. Silberbach, D. Lashley, and M.D. Reller Arteriohepatic dysplasia and cardiovascular malformations Am Heart J 127 1994 695 699
-
(1994)
Am Heart J
, vol.127
, pp. 695-699
-
-
Silberbach, M.1
Lashley, D.2
Reller, M.D.3
-
13
-
-
0001701659
-
Renovascular hypertension and vascular anomalies in Alagille syndrome
-
E. Berard, J. Sarles, and V. Triolo Renovascular hypertension and vascular anomalies in Alagille syndrome Pediatr Nephrol 12 2 1998 121 124
-
(1998)
Pediatr Nephrol
, vol.12
, Issue.2
, pp. 121-124
-
-
Berard, E.1
Sarles, J.2
Triolo, V.3
-
14
-
-
0024370647
-
Alagille syndrome associated with Moyamoya disease
-
A. Rachmel, A. Zeharia, M. Neuman-Levin, R. Weitz, R. Shamir, and G. Dinari Alagille syndrome associated with Moyamoya disease Am J Med Genet 33 1 1989 89 91
-
(1989)
Am J Med Genet
, vol.33
, Issue.1
, pp. 89-91
-
-
Rachmel, A.1
Zeharia, A.2
Neuman-Levin, M.3
Weitz, R.4
Shamir, R.5
Dinari, G.6
-
15
-
-
0033032882
-
Moyamoya syndrome in children with Alagille syndrome: Additional evidence of a vasculopathy
-
A.R. Woolfenden, G.W. Albers, G.K. Steinberg, J.S. Hahn, D.C. Johnston, and K. Farrell Moyamoya syndrome in children with Alagille syndrome: additional evidence of a vasculopathy Pediatric 103 2 1999 505 508
-
(1999)
Pediatric
, vol.103
, Issue.2
, pp. 505-508
-
-
Woolfenden, A.R.1
Albers, G.W.2
Steinberg, G.K.3
Hahn, J.S.4
Johnston, D.C.5
Farrell, K.6
-
16
-
-
0024432526
-
Exocrine pancreatic insufficiency in syndromic paucity of interlobular bile ducts
-
S.K. Chong, J. Lindridge, C. Moniz, and A.P. Mowat Exocrine pancreatic insufficiency in syndromic paucity of interlobular bile ducts J Pediatr Gastroenterol Nutr 9 4 1989 445 449
-
(1989)
J Pediatr Gastroenterol Nutr
, vol.9
, Issue.4
, pp. 445-449
-
-
Chong, S.K.1
Lindridge, J.2
Moniz, C.3
Mowat, A.P.4
-
17
-
-
0023148932
-
Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): Review of 80 cases
-
D. Alagille, A. Estrada, M. Hadchouel, M. Gautier, M. Odievre, and J.P. Dommergues Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases J Pediatr 110 2 1987 195 200
-
(1987)
J Pediatr
, vol.110
, Issue.2
, pp. 195-200
-
-
Alagille, D.1
Estrada, A.2
Hadchouel, M.3
Gautier, M.4
Odievre, M.5
Dommergues, J.P.6
-
18
-
-
0033017848
-
Features of Alagille syndrome in 92 patients: Frequency and relation to prognosis
-
K.M. Emerick, E.B. Rand, E. Goldmuntz, I.D. Krantz, N.B. Spinner, and D.A. Piccoli Features of Alagille syndrome in 92 patients: frequency and relation to prognosis Hepatology 29 3 1999 822 829
-
(1999)
Hepatology
, vol.29
, Issue.3
, pp. 822-829
-
-
Emerick, K.M.1
Rand, E.B.2
Goldmuntz, E.3
Krantz, I.D.4
Spinner, N.B.5
Piccoli, D.A.6
-
19
-
-
0038875342
-
Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1
-
L. Li, I.D. Krantz, and Y. Deng Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1 Nat Genet 16 3 1997 243 251
-
(1997)
Nat Genet
, vol.16
, Issue.3
, pp. 243-251
-
-
Li, L.1
Krantz, I.D.2
Deng, Y.3
-
20
-
-
0030914459
-
Mutations in the human Jagged1 gene are responsible for Alagille syndrome
-
T. Oda, A.G. Elkahloun, and B.L. Pike Mutations in the human Jagged1 gene are responsible for Alagille syndrome Nat Genet 16 3 1997 235 242
-
(1997)
Nat Genet
, vol.16
, Issue.3
, pp. 235-242
-
-
Oda, T.1
Elkahloun, A.G.2
Pike, B.L.3
-
21
-
-
0033617522
-
Notch signaling: Cell fate control and signal integration in development
-
S. Artavanis-Tsakonas, M.D. Rand, and R.J. Lake Notch signaling: cell fate control and signal integration in development Science 284 1999 770 776
-
(1999)
Science
, vol.284
, pp. 770-776
-
-
Artavanis-Tsakonas, S.1
Rand, M.D.2
Lake, R.J.3
-
22
-
-
0020320226
-
Four generations of arteriohepatic dysplasia
-
D.R. LaBrecque, F.A. Mitros, R.J. Nathan, K.G. Romanchuk, G.F. Judisch, and G.H. El-Khoury Four generations of arteriohepatic dysplasia Hepatology 2 1982 467 474
-
(1982)
Hepatology
, vol.2
, pp. 467-474
-
-
Labrecque, D.R.1
Mitros, F.A.2
Nathan, R.J.3
Romanchuk, K.G.4
Judisch, G.F.5
El-Khoury, G.H.6
-
23
-
-
0021712891
-
Arteriohepatic dysplasia (Alagille syndrome): Extreme variability among affected family members
-
S.A. Shulman, J.S. Hyams, R. Gunta, R.M. Greenstein, and S.B. Cassidy Arteriohepatic dysplasia (Alagille syndrome): extreme variability among affected family members Am J Med Genet 19 1984 325 332
-
(1984)
Am J Med Genet
, vol.19
, pp. 325-332
-
-
Shulman, S.A.1
Hyams, J.S.2
Gunta, R.3
Greenstein, R.M.4
Cassidy, S.B.5
-
25
-
-
0028128735
-
Cytologically balanced t(2;20) in a two-generation family with Alagille syndrome: Cytogenetic and molecular studies
-
N.B. Spinner, E.B. Rand, and P. Fortina Cytologically balanced t(2;20) in a two-generation family with Alagille syndrome: cytogenetic and molecular studies Am J Hum Genet 55 1994 238 243
-
(1994)
Am J Hum Genet
, vol.55
, pp. 238-243
-
-
Spinner, N.B.1
Rand, E.B.2
Fortina, P.3
-
27
-
-
0029125839
-
Outcome of syndromic paucity of interlobular bile ducts (Alagille syndrome) with onset of cholestasis in infancy
-
E.J. Hoffenberg, M.R. Narkewicz, J.M. Sondheimer, D.J. Smith, A. Silverman, and R.J. Sokol Outcome of syndromic paucity of interlobular bile ducts (Alagille syndrome) with onset of cholestasis in infancy J Pediatr 127 2 1995 220 224
-
(1995)
J Pediatr
, vol.127
, Issue.2
, pp. 220-224
-
-
Hoffenberg, E.J.1
Narkewicz, M.R.2
Sondheimer, J.M.3
Smith, D.J.4
Silverman, A.5
Sokol, R.J.6
-
28
-
-
0034877469
-
Outcome of liver disease in children with Alagille syndrome: A study of 163 patients
-
P. Lykavieris, M. Hadchouel, C. Chardot, and O. Bernard Outcome of liver disease in children with Alagille syndrome: a study of 163 patients Gut 49 2001 431 435
-
(2001)
Gut
, vol.49
, pp. 431-435
-
-
Lykavieris, P.1
Hadchouel, M.2
Chardot, C.3
Bernard, O.4
-
30
-
-
0023551346
-
Syndromic paucity of the intrahepatic bile ducts: Diagnostic difficulty; Severe morbidity throughout early childhood
-
A. Deprettere, B. Portmann, and A.P. Mowat Syndromic paucity of the intrahepatic bile ducts: diagnostic difficulty; severe morbidity throughout early childhood J Pediatr Gastroenterol Nutr 6 1987 865 871
-
(1987)
J Pediatr Gastroenterol Nutr
, vol.6
, pp. 865-871
-
-
Deprettere, A.1
Portmann, B.2
Mowat, A.P.3
-
32
-
-
0035173811
-
Jagged1 mutations in Alagille syndrome
-
N.B. Spinner, R.P. Colliton, C. Crosnier, I.D. Kratnz, M. Hadchouel, and M. Meunier-Rotival Jagged1 mutations in Alagille syndrome Hum Mutat 17 2001 18 33
-
(2001)
Hum Mutat
, vol.17
, pp. 18-33
-
-
Spinner, N.B.1
Colliton, R.P.2
Crosnier, C.3
Kratnz, I.D.4
Hadchouel, M.5
Meunier-Rotival, M.6
-
33
-
-
0032930909
-
Analysis of mutations of the Jagged1 gene in patients with Alagille syndrome: Evidence for most cases being sporadic
-
C. Crosnier, C. Driancourt, and N. Raynaud Analysis of mutations of the Jagged1 gene in patients with Alagille syndrome: evidence for most cases being sporadic Gastroenterology 116 1999 1141 1148
-
(1999)
Gastroenterology
, vol.116
, pp. 1141-1148
-
-
Crosnier, C.1
Driancourt, C.2
Raynaud, N.3
-
34
-
-
0035864903
-
Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome
-
J.D. Morrissette, R.P. Colliton, and N.B. Spinner Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome Hum Mol Genet 10 2001 405 413
-
(2001)
Hum Mol Genet
, vol.10
, pp. 405-413
-
-
Morrissette, J.D.1
Colliton, R.P.2
Spinner, N.B.3
-
35
-
-
0029144847
-
Liver transplantation in children with Alagille syndrome - A study of twelve cases
-
J. Cardona, D. Houssin, and F. Gauthier Liver transplantation in children with Alagille syndrome - a study of twelve cases Transplantation 60 4 1995 339 342
-
(1995)
Transplantation
, vol.60
, Issue.4
, pp. 339-342
-
-
Cardona, J.1
Houssin, D.2
Gauthier, F.3
-
36
-
-
0033557313
-
Unsuspected bile duct paucity in donors for living-related liver transplantation: Two case reports
-
A. Gurkan, S. Emre, and T.M. Fishbein Unsuspected bile duct paucity in donors for living-related liver transplantation: two case reports Transplantation 67 3 1999 416 418
-
(1999)
Transplantation
, vol.67
, Issue.3
, pp. 416-418
-
-
Gurkan, A.1
Emre, S.2
Fishbein, T.M.3
-
37
-
-
0037069322
-
Analysis of cardiovascular phenotype and genoytpe-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome
-
D.B. McElhinny, I.D. Krantz, and L. Bason Analysis of cardiovascular phenotype and genoytpe-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome Circulation 106 2002 2567 2574
-
(2002)
Circulation
, vol.106
, pp. 2567-2574
-
-
McElhinny, D.B.1
Krantz, I.D.2
Bason, L.3
-
38
-
-
0028269284
-
Arteriohepatic dysplasia and cardiovascular malformations
-
M. Silberbach, D. Lashley, M.D. Reller, W.F. Kinn Jr., A. Terry, and C.O. Sunderland Arteriohepatic dysplasia and cardiovascular malformations Am Heart J 127 1994 695 699
-
(1994)
Am Heart J
, vol.127
, pp. 695-699
-
-
Silberbach, M.1
Lashley, D.2
Reller, M.D.3
Kinn Jr., W.F.4
Terry, A.5
Sunderland, C.O.6
-
40
-
-
0030809737
-
The role of magnesium in the pathogenesis of bone disease in childhood cholestatic liver disease: A preliminary report
-
J.E. Heubi, J.V. Higgins, E.A. Argao, R.I. Sierra, and B.L. Specker The role of magnesium in the pathogenesis of bone disease in childhood cholestatic liver disease: a preliminary report J Pediatr Gastroenterol Nutr 25 1997 301 306
-
(1997)
J Pediatr Gastroenterol Nutr
, vol.25
, pp. 301-306
-
-
Heubi, J.E.1
Higgins, J.V.2
Argao, E.A.3
Sierra, R.I.4
Specker, B.L.5
-
41
-
-
0034028904
-
Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis
-
M.P. Bulman, K. Kusumi, and T.M. Frayling Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis Nat Genet 24 4 2000 438 441
-
(2000)
Nat Genet
, vol.24
, Issue.4
, pp. 438-441
-
-
Bulman, M.P.1
Kusumi, K.2
Frayling, T.M.3
-
42
-
-
0036808212
-
Facial features in Alagille syndrome: Specific or cholestasis facies?
-
B.M. Kamath, K.M. Loomes, and R.J. Oakey Facial features in Alagille syndrome: specific or cholestasis facies? Am J Med Genet 112 2002 163 170
-
(2002)
Am J Med Genet
, vol.112
, pp. 163-170
-
-
Kamath, B.M.1
Loomes, K.M.2
Oakey, R.J.3
-
43
-
-
1642271395
-
Vascular anomalies in Alagille syndrome: A significant cause of morbidity and mortality
-
B.M. Kamath, N.B. Spinner, and K.M. Emerick Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality Circulation 109 2004 1354 1358
-
(2004)
Circulation
, vol.109
, pp. 1354-1358
-
-
Kamath, B.M.1
Spinner, N.B.2
Emerick, K.M.3
-
44
-
-
16044362074
-
Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia
-
A. Joutel, C. Corpechot, and A. Ducros Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia Nature 383 6602 1996 707 710
-
(1996)
Nature
, vol.383
, Issue.6602
, pp. 707-710
-
-
Joutel, A.1
Corpechot, C.2
Ducros, A.3
-
45
-
-
0023554625
-
Renal histopathology in Alagille's syndrome
-
P.A. Russo, D. Ellis, and Y. Hashida Renal histopathology in Alagille's syndrome Pediatr Pathol 7 5-6 1987 557 568
-
(1987)
Pediatr Pathol
, vol.7
, Issue.5-6
, pp. 557-568
-
-
Russo, P.A.1
Ellis, D.2
Hashida, Y.3
-
46
-
-
0029863383
-
Alagille's syndrome associated with cystic renal disease
-
S.R. Martin, L. Garel, and F. Alvarez Alagille's syndrome associated with cystic renal disease Arch Dis Child 74 3 1996 232 235
-
(1996)
Arch Dis Child
, vol.74
, Issue.3
, pp. 232-235
-
-
Martin, S.R.1
Garel, L.2
Alvarez, F.3
-
47
-
-
0033531963
-
Jagged1 mutations in patients ascertained with isolated congenital heart defects
-
I.D. Krantz, R. Smith, and R.P. Colliton Jagged1 mutations in patients ascertained with isolated congenital heart defects Am J Med Genet 84 1 1999 56 60
-
(1999)
Am J Med Genet
, vol.84
, Issue.1
, pp. 56-60
-
-
Krantz, I.D.1
Smith, R.2
Colliton, R.P.3
-
48
-
-
0035862854
-
Familial tetralogy of Fallot caused by mutation in the Jagged1 gene
-
Z.A. Eldadah, A. Hamosh, and N.J. Biery Familial tetralogy of Fallot caused by mutation in the Jagged1 gene Hum Mol Genet 10 2001 163 169
-
(2001)
Hum Mol Genet
, vol.10
, pp. 163-169
-
-
Eldadah, Z.A.1
Hamosh, A.2
Biery, N.J.3
-
49
-
-
0036301840
-
Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of Jagged1
-
C. Le Caignec, M. Lefebre, and J.J. Schott Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of Jagged1 Am J Hum Genet 71 2002 180 186
-
(2002)
Am J Hum Genet
, vol.71
, pp. 180-186
-
-
Le Caignec, C.1
Lefebre, M.2
Schott, J.J.3
-
50
-
-
0037383967
-
Conditional JAG1 mutation shows the developing heart is more sensitive than developing liver to JAG1 dosage
-
F.M. Lu, J.D. Morrissette, and N.B. Spinner Conditional JAG1 mutation shows the developing heart is more sensitive than developing liver to JAG1 dosage Am J Hum Genet 72 4 2003 1065 1070
-
(2003)
Am J Hum Genet
, vol.72
, Issue.4
, pp. 1065-1070
-
-
Lu, F.M.1
Morrissette, J.D.2
Spinner, N.B.3
-
51
-
-
1642503811
-
Consequences of JAG1 mutations
-
B.M. Kamath, L. Bason, D.A. Piccoli, I.D. Krantz, and N.B. Spinner Consequences of JAG1 mutations J Med Genet 40 2003 891 895
-
(2003)
J Med Genet
, vol.40
, pp. 891-895
-
-
Kamath, B.M.1
Bason, L.2
Piccoli, D.A.3
Krantz, I.D.4
Spinner, N.B.5
|