-
1
-
-
0016439420
-
Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur
-
Alagille D, Odievre M, Gautier M, Dommergues JP. 1975. Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur. J Pediatr 86:63-71.
-
(1975)
J Pediatr
, vol.86
, pp. 63-71
-
-
Alagille, D.1
Odievre, M.2
Gautier, M.3
Dommergues, J.P.4
-
2
-
-
0015913082
-
Dermatoglyphics in Larsen's syndrome
-
Dallapiccola B, Capra L. 1973. Dermatoglyphics in Larsen's syndrome. Lancet 1:493-494.
-
(1973)
Lancet
, vol.1
, pp. 493-494
-
-
Dallapiccola, B.1
Capra, L.2
-
3
-
-
0014055855
-
Sickle cell hemoglobinopathy: An anatomic sign
-
DeJong R, Platou RV. 1967. Sickle cell hemoglobinopathy: An anatomic sign. Am J Dis Child 113:271-272.
-
(1967)
Am J Dis Child
, vol.113
, pp. 271-272
-
-
DeJong, R.1
Platou, R.V.2
-
4
-
-
0033017848
-
Features of Alagille syndrome in 92 patients: Frequency and relation to prognosis
-
Emerick KM, Rand EB, Goldmuntz E, Krantz ID, Spinner NB, Piccoli DA. 1999. Features of Alagille syndrome in 92 patients: Frequency and relation to prognosis. Hepatology 29:822-829.
-
(1999)
Hepatology
, vol.29
, 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
-
6
-
-
0015821371
-
Recognition of the fetal alcohol syndrome in early infancy
-
Jones KL, Smith DW. 1973. Recognition of the fetal alcohol syndrome in early infancy. Lancet 2:999-1001.
-
(1973)
Lancet
, vol.2
, pp. 999-1001
-
-
Jones, K.L.1
Smith, D.W.2
-
7
-
-
0022517931
-
Embryological development of human palmar, plantar, and digital flexion creases
-
Kimura S, Kitagawa T, 1986. Embryological development of human palmar, plantar, and digital flexion creases, Anat Rec 216:191-197.
-
(1986)
Anat Rec
, vol.216
, pp. 191-197
-
-
Kimura, S.1
Kitagawa, T.2
-
8
-
-
0018101761
-
Extra interphalangeal transverse creases of the little finger
-
Komatz Y, Daijo K, Yoshida O. 1978. Extra interphalangeal transverse creases of the little finger. Jap J Hum Genet 23:31-36.
-
(1978)
Jap J Hum Genet
, vol.23
, pp. 31-36
-
-
Komatz, Y.1
Daijo, K.2
Yoshida, O.3
-
9
-
-
0031778069
-
Spectrum and frequency ofjaggedl (JAG1) mutations in Alagille syndrome patients and their families
-
Krantz ID, Colliton RP, Genin A, Rand EB, Li L, Piccoli DA, Spinner NB. 1998. Spectrum and frequency ofjaggedl (JAG1) mutations in Alagille syndrome patients and their families. Am J Hum Genet 62:1361-1369.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 1361-1369
-
-
Krantz, I.D.1
Colliton, R.P.2
Genin, A.3
Rand, E.B.4
Li, L.5
Piccoli, D.A.6
Spinner, N.B.7
-
10
-
-
0015008265
-
Larsen's syndrome: A skeletal dysplasia with multiple joint dislocations and unusual facies
-
Latta RJ, Graham CB, Aase J, Scham SM, Smith DW. 1971. Larsen's syndrome: A skeletal dysplasia with multiple joint dislocations and unusual facies. J Pediatr 78:291-298.
-
(1971)
J Pediatr
, vol.78
, pp. 291-298
-
-
Latta, R.J.1
Graham, C.B.2
Aase, J.3
Scham, S.M.4
Smith, D.W.5
-
11
-
-
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, Qi M, et al. 1997. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat Genet 16:243-251.
-
(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
-
12
-
-
0032755346
-
The expression of Jagged1 in the developing mammalian heart correlates with cardiovascular disease in Alagille syndrome
-
Loomes KM, Underkoffler LA, Morabito J, Gottlieb S, Piccoli DA, Spinner NB, Baldwin HS, et al. 1999. The expression of Jagged1 in the developing mammalian heart correlates with cardiovascular disease in Alagille syndrome. Hum Mol Genet 8:2443-2449.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 2443-2449
-
-
Loomes, K.M.1
Underkoffler, L.A.2
Morabito, J.3
Gottlieb, S.4
Piccoli, D.A.5
Spinner, N.B.6
Baldwin, H.S.7
-
13
-
-
0017040514
-
Further evidence for the autosomal-recessive inheritance of the COFS syndrome
-
Lurie IW, Cherstvoy ED, Lazjuk GI, Nedzved MK, Usoev SS. 1976. Further evidence for the autosomal-recessive inheritance of the COFS syndrome. Clin Genet 10:343-346.
-
(1976)
Clin Genet
, vol.10
, pp. 343-346
-
-
Lurie, I.W.1
Cherstvoy, E.D.2
Lazjuk, G.I.3
Nedzved, M.K.4
Usoev, S.S.5
-
15
-
-
0014915452
-
The genesis and significance of digital and palmar hand creases: Preliminary report
-
Popich GA, Smith DW. 1970. The genesis and significance of digital and palmar hand creases: Preliminary report. J Pediatr 77:1017-1023.
-
(1970)
J Pediatr
, vol.77
, pp. 1017-1023
-
-
Popich, G.A.1
Smith, D.W.2
-
16
-
-
0016590752
-
Partial 14q trisomy: I, partial 14q trisomy by maternal translocation t(10;14) (p15.2;q22)
-
Raoul O, Rethore MO, Dutriliaux B, Michon L, Lejeune J. 1975. Partial 14q trisomy: I, partial 14q trisomy by maternal translocation t(10;14) (p15.2;q22). Ann Genet 18:35-39.
-
(1975)
Ann Genet
, vol.18
, pp. 35-39
-
-
Raoul, O.1
Rethore, M.O.2
Dutriliaux, B.3
Michon, L.4
Lejeune, J.5
-
17
-
-
0018628024
-
Arteriohepatic dysplasia: A benign syndrome of intrahepatic cholestasis with multiple organ involvement
-
Riely CA, Cotlier E, Jensen PS, Klatskin G. 1979. Arteriohepatic dysplasia: A benign syndrome of intrahepatic cholestasis with multiple organ involvement. Ann Intern Med 91:520-527.
-
(1979)
Ann Intern Med
, vol.91
, pp. 520-527
-
-
Riely, C.A.1
Cotlier, E.2
Jensen, P.S.3
Klatskin, G.4
-
18
-
-
0027310879
-
Whole-mount in situ hybridization in the mouse embryo: Gene expression in three dimensions
-
Rosen B, Beddington RS. 1993. Whole-mount in situ hybridization in the mouse embryo: Gene expression in three dimensions. Trends Genet 9:162-167.
-
(1993)
Trends Genet
, vol.9
, pp. 162-167
-
-
Rosen, B.1
Beddington, R.S.2
-
19
-
-
0019187730
-
Arteriohepatic dysplasia: Radiologic features of a new syndrome
-
Rosenfield NS, Kelley MJ, Jensen PS, Cotlier E, Rosenfield AT, Riely CA. 1980. Arteriohepatic dysplasia: Radiologic features of a new syndrome. Am J Roentgenol 135:1217-1223.
-
(1980)
Am J Roentgenol
, vol.135
, pp. 1217-1223
-
-
Rosenfield, N.S.1
Kelley, M.J.2
Jensen, P.S.3
Cotlier, E.4
Rosenfield, A.T.5
Riely, C.A.6
-
20
-
-
0027501673
-
Detection of messenger RNA by in situ hybridization
-
Wassarman PM, DePamphilis ML, editors. London: Academic Press
-
Sassoon D, Rosentha N. 1993. Detection of messenger RNA by in situ hybridization. In: Wassarman PM, DePamphilis ML, editors. Methods in Enzymology. London: Academic Press. 384-406.
-
(1993)
Methods in Enzymology
, pp. 384-406
-
-
Sassoon, D.1
Rosentha, N.2
-
21
-
-
0017228101
-
Further delineation of the clinical picture of trisomy for the distal segment of chromosome 13: Report of three cases
-
Schinzel A, Hayashi K, Schmid W. 1976. Further delineation of the clinical picture of trisomy for the distal segment of chromosome 13: Report of three cases. Hum Genet 32:1-12.
-
(1976)
Hum Genet
, vol.32
, pp. 1-12
-
-
Schinzel, A.1
Hayashi, K.2
Schmid, W.3
-
22
-
-
0023889007
-
Development of human palmar and digital flexion creases
-
Stevens CA, Carey JC, Shah M, Bagley GP. 1988. Development of human palmar and digital flexion creases. J Pediatr 113:128-132.
-
(1988)
J Pediatr
, vol.113
, pp. 128-132
-
-
Stevens, C.A.1
Carey, J.C.2
Shah, M.3
Bagley, G.P.4
-
23
-
-
0022508572
-
Chromosome deletion 1q42-43
-
Watson MS, Gargus JJ, Blakemore KJ, Katz SN, Breg WR. 1986. Chromosome deletion 1q42-43. Am J Med Genet 24:1-6.
-
(1986)
Am J Med Genet
, vol.24
, pp. 1-62
-
-
Watson, M.S.1
Gargus, J.J.2
Blakemore, K.J.3
Katz, S.N.4
Breg, W.R.5
-
24
-
-
0027445532
-
Detection of messenger RNA by in situ hybridization to tissue sections and whole mounts
-
Wassarman PM, DePamphilis ML, editors. London: Academic Press
-
Wilkinson DG, Nieto MA. 1993. Detection of messenger RNA by in situ hybridization to tissue sections and whole mounts, In: Wassarman PM, DePamphilis ML, editors. Methods in Enzymology. London: Academic Press. p 361-372.
-
(1993)
Methods in Enzymology
, pp. 361-372
-
-
Wilkinson, D.G.1
Nieto, M.A.2
-
25
-
-
0011378519
-
The extra transverse digital crease: A skin sign found in sickle cell disease
-
Zizmor J. 1973. The extra transverse digital crease: A skin sign found in sickle cell disease. Cutis 11:447-449.
-
(1973)
Cutis
, vol.11
, pp. 447-449
-
-
Zizmor, J.1
|