-
1
-
-
0023148932
-
Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): Review of 80 cases
-
DOI 10.1016/S0022-3476(87)80153-1
-
Alagille, D. et al. Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases. J. Pediatr. 2, 195-200 (1987). (Pubitemid 17016845)
-
(1987)
Journal of Pediatrics
, vol.110
, Issue.2
, pp. 195-200
-
-
Alagille, D.1
Estrada, A.2
Hadchouel, M.3
-
2
-
-
0033626640
-
Alagille syndrome. The widening spectrum of arteriohepatic dysplasia
-
Crosnier, C., Lykavieris, P., Meunier-Rotival, M. & Hadchouel, M. Alagille syndrome. The widening spectrum of arteriohepatic dysplasia. Clin. Liver Dis. 4, 765-778 (2000).
-
(2000)
Clin. Liver Dis
, vol.4
, pp. 765-778
-
-
Crosnier, C.1
Lykavieris, P.2
Meunier-Rotival, M.3
Hadchouel, M.4
-
3
-
-
1642503811
-
Consequences of JAG1 mutations
-
Kamath, B. M., Bason, L., Piccoli, D. A., Krantz, I. D. & Spinner, N. B. Consequences of JAG1 mutations. J. Med. Genet. 40, 891-895 (2003). (Pubitemid 38117538)
-
(2003)
Journal of Medical Genetics
, vol.40
, Issue.12
, pp. 891-895
-
-
Kamath, B.M.1
Bason, L.2
Piccoli, D.A.3
Krantz, I.D.4
Spinner, N.B.5
-
4
-
-
0033017848
-
Features of Alagille syndrome in 92 patients: Frequency and relation to prognosis
-
Emerick, K. M. et al. Features of Alagille syndrome in 92 patients: frequency and relation to prognosis. Hepatology 29, 822-829 (1999). (Pubitemid 29109597)
-
(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
-
5
-
-
84896551374
-
Renal anomalies in Alagille syndrome
-
Kamath, B. M. et al. Renal anomalies in Alagille syndrome. Am. J. Med. Genet. 1, 185-189 (2012).
-
(2012)
Am. J. Med. Genet
, vol.1
, pp. 185-189
-
-
Kamath, B.M.1
-
6
-
-
1642271395
-
Vascular anomalies in alagille syndrome: A significant cause of morbidity and mortality
-
DOI 10.1161/01.CIR.0000121361.01862.A4
-
Kamath, B. M. et al. Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality. Circulation 109, 1354-1358 (2004). (Pubitemid 38387820)
-
(2004)
Circulation
, vol.109
, Issue.11
, pp. 1354-1358
-
-
Kamath, B.M.1
Spinner, N.B.2
Emerick, K.M.3
Chudley, A.E.4
Booth, C.5
Piccoli, D.A.6
Krantz, I.D.7
-
8
-
-
77951837630
-
Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis
-
Bauer, R. C. et al. Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. Hum. Mutat. 31, 594-601 (2010).
-
(2010)
Hum. Mutat
, vol.31
, pp. 594-601
-
-
Bauer, R.C.1
-
9
-
-
23144454115
-
Renal failure and hypertension in Alagille syndrome with a novel JAG1 mutation
-
Harendza, S. et al. Renal failure and hypertension in Alagille syndrome with a novel JAG1 mutation. J. Nephrol 18, 312-317 (2005). (Pubitemid 41078952)
-
(2005)
Journal of Nephrology
, vol.18
, Issue.3
, pp. 312-317
-
-
Harendza, S.1
Hubner, C.A.2
Glaser, C.3
Burdelski, M.4
Thaiss, F.5
Hansmann, I.6
Gal, A.7
Stahl, R.A.K.8
-
10
-
-
34247559826
-
Alagille Syndrome in Adult Patients: It Is Never Too Late
-
DOI 10.1053/j.ajkd.2007.02.262, PII S0272638607002569
-
Jacquet, A. et al. Alagille syndrome in adult patients: it is never too late. Am. J. Kidney Dis. 49, 705-709 (2007). (Pubitemid 46667193)
-
(2007)
American Journal of Kidney Diseases
, vol.49
, Issue.5
, pp. 705-709
-
-
Jacquet, A.1
Guiochon-Mantel, A.2
Noel, L.-H.3
Sqalli, T.4
Bedossa, P.5
Hadchouel, M.6
Grunfeld, J.-P.7
Fakhouri, F.8
-
11
-
-
0038875342
-
Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1
-
Li, L. et al. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat. Genet. 16, 243-251 (1997).
-
(1997)
Nat. Genet
, vol.16
, pp. 243-251
-
-
Li, L.1
-
12
-
-
33745232796
-
NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway
-
DOI 10.1086/505332
-
McDaniell, R. et al. NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. Am. J. Hum. Genet. 79, 169-173 (2006). (Pubitemid 43927389)
-
(2006)
American Journal of Human Genetics
, vol.79
, Issue.1
, pp. 169-173
-
-
McDaniell, R.1
Warthen, D.M.2
Sanchez-Lara, P.A.3
Pai, A.4
Krantz, I.D.5
Piccoli, D.A.6
Spinner, N.B.7
-
13
-
-
0030914459
-
Mutations in the human Jagged1 gene are responsible for Alagille syndrome
-
Oda, T. et al. Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nat. Genet. 16, 235-242 (1997).
-
(1997)
Nat. Genet
, vol.16
, pp. 235-242
-
-
Oda, T.1
-
14
-
-
33646344977
-
Jagged1 (JAG1) mutations in Alagille syndrome: Increasing the mutation detection rate
-
DOI 10.1002/humu.20310
-
Warthen, D. M. et al. Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate. Hum. Mutat. 27, 436-443 (2006). (Pubitemid 43673330)
-
(2006)
Human Mutation
, vol.27
, Issue.5
, pp. 436-443
-
-
Warthen, D.M.1
Moore, E.C.2
Kamath, B.M.3
Morrissette, J.J.D.4
Sanchez, P.5
Piccoli, D.A.6
Krantz, I.D.7
Spinner, N.B.8
-
15
-
-
77953129356
-
Medical management of Alagille syndrome
-
Kamath, B. M., Loomes, K. M. & Piccoli, D. A. Medical management of Alagille syndrome. Pediatr. Gastroenterol. Nutr. 6, 580-586 (2010).
-
(2010)
Pediatr. Gastroenterol. Nutr
, vol.6
, pp. 580-586
-
-
Kamath, B.M.1
Loomes, K.M.2
Piccoli, D.A.3
-
16
-
-
0036614010
-
Partial external biliary diversion for intractable pruritus and xanthomas in Alagille syndrome
-
DOI 10.1053/jhep.2002.33332
-
Emerick, K. M. & Whitington, P.F. Partial external biliary diversion for intractable pruritus and xanthomas in Alagille syndrome. Hepatology 6, 1501-1506 (2002). (Pubitemid 34966905)
-
(2002)
Hepatology
, vol.35
, Issue.6
, pp. 1501-1506
-
-
Emerick, K.M.1
Whitington, P.F.2
-
17
-
-
76149100902
-
Alagille syndrome and liver transplantation
-
Kamath, B. M., Schwarz, K. B. & Hadzic, N. Alagille syndrome and liver transplantation. J. Pediatr. Gastroenterol. Nutr. 50, 11-15 (2010).
-
(2010)
J. Pediatr. Gastroenterol. Nutr
, vol.50
, pp. 11-15
-
-
Kamath, B.M.1
Schwarz, K.B.2
Hadzic, N.3
-
18
-
-
0037069322
-
Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome
-
DOI 10.1161/01.CIR.0000037221.45902.69
-
McElhinney, D. B. et al. Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome. Circulation 106, 2567-2574 (2002). (Pubitemid 35340693)
-
(2002)
Circulation
, vol.106
, Issue.20
, pp. 2567-2574
-
-
McElhinney, D.B.1
Krantz, I.D.2
Bason, L.3
Piccoli, D.A.4
Emerick, K.M.5
Spinner, N.B.6
Goldmuntz, E.7
-
19
-
-
22044446195
-
Intracranial vascular abnormalities in patients with Alagille syndrome
-
DOI 10.1097/01.MPG.0000162776.67758.2F
-
Emerick, K. M. et al. Intracranial vascular abnormalities in patients with Alagille syndrome. J. Pediatr. Gastroenterol. Nutr. 41, 99-107 (2005). (Pubitemid 40967363)
-
(2005)
Journal of Pediatric Gastroenterology and Nutrition
, vol.41
, Issue.1
, pp. 99-107
-
-
Emerick, K.M.1
Krantz, I.D.2
Kamath, B.M.3
Darling, C.4
Burrowes, D.M.5
Spinner, N.B.6
Whitington, P.F.7
Piccoli, D.A.8
-
20
-
-
77954423565
-
Pathologic lower extremity fractures in children with Alagille syndrome
-
Bales, C. B. et al. Pathologic lower extremity fractures in children with Alagille syndrome. J. Pediatr. Gastroenterol. Nutr. 51, 66-70 (2010).
-
(2010)
J. Pediatr. Gastroenterol. Nutr
, vol.51
, pp. 66-70
-
-
Bales, C.B.1
-
21
-
-
0036808212
-
Facial features in Alagille syndrome: Specific or cholestasis facies?
-
DOI 10.1002/ajmg.10579
-
Kamath, B. M. et al. Facial features in Alagille syndrome: specific or cholestasis facies? Am. J. Med. Genet. 112, 163-170 (2002). (Pubitemid 35332181)
-
(2002)
American Journal of Medical Genetics
, vol.112
, Issue.2
, pp. 163-170
-
-
Kamath, B.M.1
Loomes, K.M.2
Oakey, R.J.3
Emerick, K.E.M.4
Conversano, T.5
Spinner, N.B.6
Piccoli, D.A.7
Krantz, I.D.8
-
22
-
-
17544364757
-
The prevalence and associated features of posterior embryotoxon in the general ophthalmic clinic
-
DOI 10.1038/sj.eye.6701508
-
Rennie, C. A. et al. The prevalence and associated features of posterior embryotoxon in the general ophthalmic clinic. Eye (Lond.) 19, 396-399 (2005). (Pubitemid 40553139)
-
(2005)
Eye
, vol.19
, Issue.4
, pp. 396-399
-
-
Rennie, C.A.1
Chowdhury, S.2
Khan, J.3
Rajan, F.4
Jordan, K.5
Lamb, R.J.6
Vivian, A.J.7
-
23
-
-
34547857436
-
Mesangiolipidosis in Alagille syndrome - Relationship with apolipoprotein A-I
-
DOI 10.1093/ndt/gfm165
-
Benoit, G. et al. Mesangiolipidosis in Alagille syndrome-relationship with apolipoprotein A-I. Nephrol. Dial. Transplant. 22, 2072-2075 (2007). (Pubitemid 47248468)
-
(2007)
Nephrology Dialysis Transplantation
, vol.22
, Issue.7
, pp. 2072-2075
-
-
Benoit, G.1
Sartelet, H.2
Levy, E.3
Boule, M.-E.4
Alvarez, F.5
Abed, L.6
Merouani, A.7
-
24
-
-
0001701659
-
Renovascular hypertension and vascular anomalies in Alagille syndrome
-
DOI 10.1007/s004670050418
-
Berard, E. et al. Renovascular hypertension and vascular anomalies in Alagille syndrome. Pediatr. Nephrol. 12, 121-124 (1998). (Pubitemid 28165800)
-
(1998)
Pediatric Nephrology
, vol.12
, Issue.2
, pp. 121-124
-
-
Berard, E.1
Sarles, J.2
Triolo, V.3
Gagnadoux, M.-F.4
Wernert, F.5
Hadchouel, M.6
Niaudet, P.7
-
25
-
-
40449125212
-
Alagille syndrome and nephroblastoma: Unusual coincidence of two rare disorders
-
DOI 10.1002/pbc.21255
-
Bourdeaut, F. et al. Alagille syndrome and nephroblastoma: unusual coincidence of two rare disorders. Pediatr. Blood Cancer 50, 908-911 (2008). (Pubitemid 351354819)
-
(2008)
Pediatric Blood and Cancer
, vol.50
, Issue.4
, pp. 908-911
-
-
Bourdeaut, F.1
Guiochon-Mantel, A.2
Fabre, M.3
Martelli, H.4
Patte, C.5
Porta, G.6
Bernard, O.7
Delattre, O.8
Jacquemin, E.9
-
26
-
-
0020406382
-
Renal lipidosis associated with arteriohepatic dysplasia (Alagille's syndrome)
-
Chung-Park, M. et al. Renal lipidosis associated with arteriohepatic dysplasia (Alagille's syndrome). Clin. Nephrol. 18, 314-320 (1982). (Pubitemid 13202010)
-
(1982)
Clinical Nephrology
, vol.18
, Issue.6
, pp. 314-320
-
-
Chung-Park, M.1
Petrelli, M.2
Tavill, A.S.3
-
27
-
-
77951257525
-
Glomerular basement membrane lipidosis in Alagille syndrome
-
Davis, J., Griffiths, R., Larkin, K., Rozansky, D. & Troxell, M. Glomerular basement membrane lipidosis in Alagille syndrome. Pediatr. Nephrol. 25, 1181-1184 (2010).
-
(2010)
Pediatr. Nephrol
, vol.25
, pp. 1181-1184
-
-
Davis, J.1
Griffiths, R.2
Larkin, K.3
Rozansky, D.4
Troxell, M.5
-
28
-
-
0030024451
-
Paucity of intrahepatic bile ducts, solitary kidney and atrophic pancreas with diabetes mellitus: Atypical Alagille syndrome?
-
DOI 10.1007/s004310050380
-
Devriendt, K. et al. Paucity of intrahepatic bile ducts, solitary kidney and atrophic pancreas with diabetes mellitus: atypical Alagille syndrome? Eur. J. Pediatr. 155, 87-90 (1996). (Pubitemid 26045213)
-
(1996)
European Journal of Pediatrics
, vol.155
, Issue.2
, pp. 87-90
-
-
Devriendt, K.1
Dooms, L.2
Proesmans, W.3
De Zegher, F.4
Desmet, V.5
Eggermont, E.6
-
29
-
-
18644365647
-
Successful stenting for renal artery stenosis in a patient with Alagille syndrome
-
DOI 10.1007/s00467-004-1774-8
-
Hirai, H. et al. Successful stenting for renal artery stenosis in a patient with Alagille syndrome. Pediatr. Nephrol. 20, 831-833 (2005). (Pubitemid 40663175)
-
(2005)
Pediatric Nephrology
, vol.20
, Issue.6
, pp. 831-833
-
-
Hirai, H.1
Santo, Y.2
Kogaki, S.3
Kurotobi, S.4
Etani, Y.5
Mushiake, S.6
Nakatsuchi, Y.7
Nakajima, S.8
Ozono, K.9
-
30
-
-
0029863383
-
Alagille's syndrome associated with cystic renal disease
-
Martin, S. R., Garel, L. & Alvarez, F. Alagille's syndrome associated with cystic renal disease. Arch. Dis. Child. 74, 232-235 (1996). (Pubitemid 26093819)
-
(1996)
Archives of Disease in Childhood
, vol.74
, Issue.3
, pp. 232-235
-
-
Martin, S.R.1
Garel, L.2
Alvarez, F.3
-
31
-
-
0029016136
-
Aortic calcification and renal cysts demonstrated by CT in a teenager with Alagille syndrome
-
Pombo, F., Isla, C., Gayol, A. & Bargiela, A. Aortic calcification and renal cysts demonstrated by CT in a teenager with Alagille syndrome. Pediatr. Radiol. 25, 314-315 (1995).
-
(1995)
Pediatr. Radiol
, vol.25
, pp. 314-315
-
-
Pombo, F.1
Isla, C.2
Gayol, A.3
Bargiela, A.4
-
32
-
-
0033512356
-
Variable morbidity in Alagille syndrome: A review of 43 cases
-
DOI 10.1097/00005176-199910000-00011
-
Quiros-Tejeira, R. E. et al. Variable morbidity in alagille syndrome: a review of 43 cases. J. Pediatr. Gastroenterol. Nutr. 29, 431-437 (1999). (Pubitemid 30346363)
-
(1999)
Journal of Pediatric Gastroenterology and Nutrition
, vol.29
, Issue.4
, pp. 431-437
-
-
Quiros-Tejeira, R.E.1
Ament, M.E.2
Heyman, M.B.3
Martin, M.G.4
Rosenthal, P.5
Hall, T.R.6
McDiarmid, S.V.7
Vargas, J.H.8
-
33
-
-
84862772896
-
Hypertension and aortorenal disease in Alagille syndrome
-
Salem, J. E., Bruguiere, E., Iserin, L., Guiochon-Mantel, A. & Plouin, P. F. Hypertension and aortorenal disease in Alagille syndrome. J. Hypertens. 30, 1300-1306 (2012).
-
(2012)
J. Hypertens
, vol.30
, pp. 1300-1306
-
-
Salem, J.E.1
Bruguiere, E.2
Iserin, L.3
Guiochon-Mantel, A.4
Plouin, P.F.5
-
34
-
-
0031973387
-
Renal transplantation in Alagille syndrome
-
DOI 10.1093/ndt/13.1.197
-
Schonck, M., Hoorntje, S. & van Hooff, J. Renal transplantation in Alagille syndrome. Nephrol. Dial. Transplant. 13, 197-199 (1998). (Pubitemid 28033605)
-
(1998)
Nephrology Dialysis Transplantation
, vol.13
, Issue.1
, pp. 197-199
-
-
Schonck, M.1
Hoorntje, S.2
Hooff, J.V.3
-
35
-
-
0026645769
-
Long-term complications of arteriohepatic dysplasia
-
Schwarzenberg, S. J., Grothe, R. M., Sharp, H. L., Snover, D. C. & Freese, D. Long-term complications of arteriohepatic dysplasia. Am. J. Med. 93, 171-176 (1992).
-
(1992)
Am. J. Med
, vol.93
, pp. 171-176
-
-
Schwarzenberg, S.J.1
Grothe, R.M.2
Sharp, H.L.3
Snover, D.C.4
Freese, D.5
-
36
-
-
77951676607
-
An unusual cause of hypertension and renal failure: A case series of a family with Alagille syndrome
-
Shrivastava, R. et al. An unusual cause of hypertension and renal failure: a case series of a family with Alagille syndrome. Nephrol. Dial. Transplant. 25, 1501-1506 (2010).
-
(2010)
Nephrol. Dial. Transplant
, vol.25
, pp. 1501-1506
-
-
Shrivastava, R.1
-
37
-
-
78650957201
-
Diagnosis of Alagille syndrome-25 years of experience at King's College Hospital
-
Subramaniam, P. et al. Diagnosis of Alagille syndrome-25 years of experience at King's College Hospital. J. Pediatr. Gastroenterol. Nutr. 52, 84-89 (2011).
-
(2011)
J. Pediatr. Gastroenterol. Nutr
, vol.52
, pp. 84-89
-
-
Subramaniam, P.1
-
38
-
-
0023584239
-
Renal abnormalities in paucity of interlobular bile ducts
-
Tolia, V., Dubois, R. S., Watts, F. B., Jr & Perrin, E. Renal abnormalities in paucity of interlobular bile ducts. J. Pediatr. Gastroenterol. Nutr. 6, 971-976 (1987). (Pubitemid 18046928)
-
(1987)
Journal of Pediatric Gastroenterology and Nutrition
, vol.6
, Issue.6
, pp. 971-976
-
-
Tolia, V.1
Dubois, R.S.2
Watts Jr., F.B.3
Perrin, E.4
-
39
-
-
58149187966
-
Clinical and pathological characteristics of Alagille syndrome in Chinese children
-
Wang, J. S. et al. Clinical and pathological characteristics of Alagille syndrome in Chinese children. World J. Pediatr. 4, 283-288 (2008).
-
(2008)
World J. Pediatr
, vol.4
, pp. 283-288
-
-
Wang, J.S.1
-
40
-
-
0024154667
-
Nephropathy in arteriohepatic dysplasia (Alagille's syndrome)
-
Wolfish, N. M. & Shanon, A. Nephropathy in arteriohepatic dysplasia (Alagille's syndrome). Child. Nephrol. Urol. 9, 169-172 (1988). (Pubitemid 19171074)
-
(1988)
Child Nephrology and Urology
, vol.9
, Issue.3
, pp. 169-172
-
-
Wolfish, N.M.1
Shanon, A.2
-
41
-
-
76749096795
-
Renal abnormalities in a family with Alagille syndrome
-
Yucel, H., Hoorntje, S. J. & Bravenboer, B. Renal abnormalities in a family with Alagille syndrome. Neth. J. Med. 68, 38-39 (2010).
-
(2010)
Neth. J. Med
, vol.68
, pp. 38-39
-
-
Yucel, H.1
Hoorntje, S.J.2
Bravenboer, B.3
-
42
-
-
0023555656
-
Glomerular mesangiolipidosis in Alagille syndrome (arteriohepatic dysplasia)
-
DOI 10.1007/BF00849254
-
Habib, R. et al. Glomerular mesangiolipidosis in Alagille syndrome (arteriohepatic dysplasia). Pediatr. Nephrol. 1, 455-464 (1987). (Pubitemid 18016646)
-
(1987)
Pediatr. Nephrol.
, vol.1
, Issue.3
, pp. 455-464
-
-
Habib, R.1
Dommergues, J.-P.2
Gubler, M.-C.3
Hadchouel, M.4
Gautier, M.5
Odievre, M.6
Alagille, D.7
-
43
-
-
84864471924
-
Outcomes of liver transplantation for patients with Alagille syndrome: The studies of pediatric liver transplantation experience
-
Kamath, B. M. et al. Outcomes of liver transplantation for patients with Alagille syndrome: the studies of pediatric liver transplantation experience. Liver Transpl. 8, 940-948 (2012).
-
(2012)
Liver Transpl
, vol.8
, pp. 940-948
-
-
Kamath, B.M.1
-
44
-
-
0036808212
-
Facial features in Alagille syndrome: Specific or cholestasis facies?
-
DOI 10.1002/ajmg.10579
-
Kamath, B. M. et al. Facial features in Alagille syndrome: specific or cholestasis facies? Am. J. Med. Genet. 112, 163-170 (2002). (Pubitemid 35332181)
-
(2002)
American Journal of Medical Genetics
, vol.112
, Issue.2
, pp. 163-170
-
-
Kamath, B.M.1
Loomes, K.M.2
Oakey, R.J.3
Emerick, K.E.M.4
Conversano, T.5
Spinner, N.B.6
Piccoli, D.A.7
Krantz, I.D.8
-
45
-
-
0032930909
-
Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome
-
DOI 10.1016/S0016-5085(99)70017-X
-
Crosnier, C. et al. Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome. Gastroenterology 116, 1141-1148 (1999). (Pubitemid 29203024)
-
(1999)
Gastroenterology
, vol.116
, Issue.5
, pp. 1141-1148
-
-
Crosnier, C.1
Driancourt, C.2
Raynaud, N.3
Dhorne-Pollet, S.4
Pollet, N.5
Bernard, O.6
Hadchouel, M.7
Meunier-Rotival, M.8
-
46
-
-
0035173811
-
Jagged1 mutations in Alagille syndrome
-
DOI 10.1002/1098-1004(2001)17:1<18::AID-HUMU3>3.0.CO;2-T
-
Spinner, N. B. et al. Jagged1 mutations in Alagille syndrome. Hum. Mutat. 17, 18-33 (2001). (Pubitemid 32051872)
-
(2001)
Human Mutation
, vol.17
, Issue.1
, 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
-
47
-
-
0033505605
-
Use of rifampin for severe pruritus in children with chronic cholestasis
-
DOI 10.1097/00005176-199910000-00013
-
Yerushalmi, B., Sokol, R. J., Narkewicz, M. R., Smith, D. & Karrer, F. M. Use of rifampin for severe pruritus in children with chronic cholestasis. J. Pediatr. Gastroenterol. Nutr. 29, 442-447 (1999). (Pubitemid 30346365)
-
(1999)
Journal of Pediatric Gastroenterology and Nutrition
, vol.29
, Issue.4
, pp. 442-447
-
-
Yerushalmi, B.1
Sokol, R.J.2
Narkewicz, M.R.3
Smith, D.4
Karrer, F.M.5
-
48
-
-
84855991075
-
NOTCH2 mutations in Alagille syndrome
-
Kamath, B. M. et al. NOTCH2 mutations in Alagille syndrome. J. Med. Genet. 2, 138-144 (2012).
-
(2012)
J. Med. Genet
, vol.2
, pp. 138-144
-
-
Kamath, B.M.1
-
49
-
-
80054710337
-
Serpentine fibula-polycystic kidney syndrome caused by truncating mutations in NOTCH2
-
Isidor, B. et al. Serpentine fibula-polycystic kidney syndrome caused by truncating mutations in NOTCH2. Hum. Mutat. 32, 1239-1242 (2011).
-
(2011)
Hum. Mutat
, vol.32
, pp. 1239-1242
-
-
Isidor, B.1
-
50
-
-
79953197889
-
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss
-
Simpson, M. A. et al. Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. Nat. Genet. 43, 303-305 (2011).
-
(2011)
Nat. Genet
, vol.43
, pp. 303-305
-
-
Simpson, M.A.1
-
51
-
-
83255185252
-
Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome
-
Gray, M. J. et al. Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome. Eur. J. Hum. Genet. 20, 122-124 (2012).
-
(2012)
Eur. J. Hum. Genet
, vol.20
, pp. 122-124
-
-
Gray, M.J.1
-
54
-
-
0033839965
-
JAGGED1 gene expression during human embryogenesis elucidates the wide phenotypic spectrum of Alagille syndrome
-
Crosnier, C. et al. JAGGED1 gene expression during human embryogenesis elucidates the wide phenotypic spectrum of Alagille syndrome. Hepatology 32, 574-581 (2000).
-
(2000)
Hepatology
, vol.32
, pp. 574-581
-
-
Crosnier, C.1
-
55
-
-
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 129, 1075-1082 (2002). (Pubitemid 34874130)
-
(2002)
Development
, vol.129
, Issue.4
, pp. 1075-1082
-
-
McCright, B.1
Lozier, J.2
Gridley, T.3
-
56
-
-
0037230145
-
Notch signaling in kidney development
-
DOI 10.1097/00041552-200301000-00002
-
McCright, B. Notch signaling in kidney development. Curr. Opin. Nephrol. Hypertens. 12, 5-10 (2003). (Pubitemid 36092308)
-
(2003)
Current Opinion in Nephrology and Hypertension
, vol.12
, Issue.1
, pp. 5-10
-
-
McCright, B.1
-
57
-
-
82755160861
-
Notch in the kidney: Development and disease
-
Sirin, Y. & Susztak, K. Notch in the kidney: development and disease. J. Pathol. 226, 394-403 (2012).
-
(2012)
J. Pathol
, vol.226
, pp. 394-403
-
-
Sirin, Y.1
Susztak, K.2
-
58
-
-
30944438698
-
The role of Notch signaling in specification of podocyte and proximal tubules within the developing mouse kidney
-
DOI 10.1111/j.1523-1755.2005.00627.x, PII 4494817
-
Cheng, H. T. & Kopan, R. The role of Notch signaling in specification of podocyte and proximal tubules within the developing mouse kidney. Kidney Int. 68, 1951-1952 (2005). (Pubitemid 43117769)
-
(2005)
Kidney International
, vol.68
, Issue.5
, pp. 1951-1952
-
-
Cheng, H.-T.1
Kopan, R.2
-
59
-
-
0035097937
-
Defects in development of the kidney, heart and eye vasculature in mice homozygous for a hypomorphic Notch2 mutation
-
McCright, B. et al. Defects in development of the kidney, heart and eye vasculature in mice homozygous for a hypomorphic Notch2 mutation. Development 128, 491-502 (2001). (Pubitemid 32229592)
-
(2001)
Development
, vol.128
, Issue.4
, pp. 491-502
-
-
McCright, B.1
Gao, X.2
Shen, L.3
Lozier, J.4
Lan, Y.5
Maguire, M.6
Herzlinger, D.7
Weinmaster, G.8
Jiang, R.9
Gridley, T.10
-
60
-
-
0027052807
-
Notch2: A second mammalian Notch gene
-
Weinmaster, G., Roberts, V. J. & Lemke, G. Notch2: a second mammalian Notch gene. Development 116, 931-941 (1992). (Pubitemid 23042434)
-
(1992)
Development
, vol.116
, Issue.4
, pp. 931-941
-
-
Weinmaster, G.1
Roberts, V.J.2
Lemke, G.3
-
61
-
-
0142180318
-
Gamma-secretase activity is dispensable for mesenchyme-to-epithelium transition but required for podocyte and proximal tubule formation in developing mouse kidney
-
Cheng, H. T. et al. Gamma-secretase activity is dispensable for mesenchyme-to-epithelium transition but required for podocyte and proximal tubule formation in developing mouse kidney. Development 130, 5031-5042 (2003).
-
(2003)
Development
, vol.130
, pp. 5031-5042
-
-
Cheng, H.T.1
-
62
-
-
0034212710
-
Notch signaling is essential for vascular morphogenesis in mice
-
Krebs, L. T. et al. Notch signaling is essential for vascular morphogenesis in mice. Genes Dev. 14, 1343-1352 (2000). (Pubitemid 30397078)
-
(2000)
Genes and Development
, vol.14
, Issue.11
, pp. 1343-1352
-
-
Krebs, L.T.1
Xue, Y.2
Norton, C.R.3
Shutter, J.R.4
Maguire, M.5
Sundberg, J.P.6
Gallahan, D.7
Closson, V.8
Kitajewski, J.9
Callahan, R.10
Smith, G.H.11
Stark, K.L.12
Gridley, T.13
-
63
-
-
0035826844
-
Vascular patterning defects associated with expression of activated Notch4 in embryonic endothelium
-
DOI 10.1073/pnas.091584598
-
Uyttendaele, H., Ho, J., Rossant, J. & Kitajewski, J. Vascular patterning defects associated with expression of activated Notch4 in embryonic endothelium. Proc. Natl Acad. Sci. USA 98, 5643-5648 (2001). (Pubitemid 32435695)
-
(2001)
Proceedings of the National Academy of Sciences of the United States of America
, vol.98
, Issue.10
, pp. 5643-5648
-
-
Uyttendaele, H.1
Ho, J.2
Rossant, J.3
Kitajewski, J.4
-
64
-
-
0032897080
-
Embryonic lethality and vascular defects in mice lacking the Notch ligand Jagged1
-
Xue, Y. et al. Embryonic lethality and vascular defects in mice lacking the Notch ligand Jagged1. Hum. Mol. Genet. 8, 723-730 (1999). (Pubitemid 29189039)
-
(1999)
Human Molecular Genetics
, vol.8
, Issue.5
, pp. 723-730
-
-
Xue, Y.1
Gao, X.2
Lindsell, C.E.3
Norton, C.R.4
Chang, B.5
Hicks, C.6
Gendron-Maguire, M.7
Rand, E.B.8
Weinmaster, G.9
Gridley, T.10
-
65
-
-
33947312487
-
Notch2, but not Notch1, is required for proximal fate acquisition in the mammalian nephron
-
Cheng, H. T. et al. Notch2, but not Notch1, is required for proximal fate acquisition in the mammalian nephron. Development 134, 801-811 (2007).
-
(2007)
Development
, vol.134
, pp. 801-811
-
-
Cheng, H.T.1
-
66
-
-
79955624322
-
The fate of Notch-deficient nephrogenic progenitor cells during metanephric kidney development
-
Bonegio, R. G., Beck, L. H., Kahlon, R. K., Lu, W. & Salant, D. J. The fate of Notch-deficient nephrogenic progenitor cells during metanephric kidney development. Kidney Int. 79, 1099-1112 (2011).
-
(2011)
Kidney Int
, vol.79
, pp. 1099-1112
-
-
Bonegio, R.G.1
Beck, L.H.2
Kahlon, R.K.3
Lu, W.4
Salant, D.J.5
-
67
-
-
77952561091
-
Notch2 activation in the embryonic kidney depletes nephron progenitors
-
Fujimura, S., Jiang, Q., Kobayashi, C. & Nishinakamura, R. Notch2 activation in the embryonic kidney depletes nephron progenitors. J. Am. Soc. Nephrol. 21, 803-810 (2010).
-
(2010)
J. Am. Soc. Nephrol
, vol.21
, pp. 803-810
-
-
Fujimura, S.1
Jiang, Q.2
Kobayashi, C.3
Nishinakamura, R.4
-
68
-
-
76249102739
-
Organogenesis and development of the liver
-
Si-Tayeb, K., Lemaigre F. P. & Duncan, S. Organogenesis and development of the liver. Development 18, 175-189 (2010).
-
(2010)
Development
, vol.18
, pp. 175-189
-
-
Si-Tayeb, K.1
Lemaigre, F.P.2
Duncan, S.3
-
69
-
-
9644307844
-
The role of notch signaling in the development of intrahepatic bile ducts
-
DOI 10.1053/j.gastro.2004.09.004, PII S0016508504015732
-
Kodama, Y., Hijikata, M., Kageyama, R., Shimotohno, K. & Chiba, T. The role of Notch signaling in the development of intrahepatic bile ducts. Gastroenterology 127, 1775-1786 (2004). (Pubitemid 39575856)
-
(2004)
Gastroenterology
, vol.127
, Issue.6
, pp. 1775-1786
-
-
Kodama, Y.1
Hijikata, M.2
Kageyama, R.3
Shimotohno, K.4
Chiba, T.5
-
70
-
-
78649873560
-
Jagged in the portal vein mesenchyme regulates intrahepatic bile duct development: Insights into Alagille syndrome
-
Hofmann, J. J. et al. Jagged in the portal vein mesenchyme regulates intrahepatic bile duct development: insights into Alagille syndrome. Development 137, 4061-4072 (2010).
-
(2010)
Development
, vol.137
, pp. 4061-4072
-
-
Hofmann, J.J.1
-
71
-
-
39149086711
-
Co-regulation of Gremlin and Notch signalling in diabetic nephropathy
-
Walsh, D. W. et al. Co-regulation of Gremlin and Notch signalling in diabetic nephropathy. Biochim. Biophys. Acta 1782, 10-21 (2008).
-
(2008)
Biochim. Biophys. Acta
, vol.1782
, pp. 10-21
-
-
Walsh, D.W.1
-
72
-
-
77955654604
-
Expression of Notch pathway proteins correlates with albuminuria, glomerulosclerosis and renal function
-
Murea, M. et al. Expression of Notch pathway proteins correlates with albuminuria, glomerulosclerosis and renal function. Kidney Int. 78, 514-522 (2010).
-
(2010)
Kidney Int
, vol.78
, pp. 514-522
-
-
Murea, M.1
-
73
-
-
43749117539
-
Expression and function of the Delta-1/Notch-2/Hes-1 pathway during experimental acute kidney injury
-
DOI 10.1038/ki.2008.74, PII KI200874
-
Kobayashi, T. et al. Expression and function of the Delta-1/Notch-2/Hes-1 pathway during experimental acute kidney injury. Kidney Int. 73, 1240-1250 (2008). (Pubitemid 351693161)
-
(2008)
Kidney International
, vol.73
, Issue.11
, pp. 1240-1250
-
-
Kobayashi, T.1
Terada, Y.2
Kuwana, H.3
Tanaka, H.4
Okado, T.5
Kuwahara, M.6
Tohda, S.7
Sakano, S.8
Sasaki, S.9
-
74
-
-
0020591021
-
Renal abnormalities in arteriohepatic dysplasia and nonsymptomatic intrahepatic biliary hypoplasia
-
Oestrich, A. E., Sokol, R. J., Suchy, F. J. & Heubi, J. E. Renal abnormalities in arteriohepatic dysplasia and nonsyndromic intrahepatic biliary hypoplasia. Ann. Radiol. (Paris) 26, 203-209 (1983). (Pubitemid 13052688)
-
(1983)
Annales de Radiologie
, vol.26
, Issue.2-3
, pp. 203-209
-
-
Oestreich, A.E.1
Sokol, R.J.2
Suchy, F.J.3
Heubi, J.E.4
-
75
-
-
0020560638
-
Tubulointerstitial nephropathy associated with arteriohepatic dysplasia
-
Hyams, J. S., Berman, M. M & Davis, B. H. Tubulointerstitial nephropathy associated with arteriohepatic dysplasia. Gastroenterology 85, 430-434 (1983). (Pubitemid 13070932)
-
(1983)
Gastroenterology
, vol.85
, Issue.2
, pp. 430-434
-
-
Hyams, J.S.1
Berman, M.M.2
Davis, B.H.3
|