-
2
-
-
0033558206
-
Revised genomic organization of FBN1 and significance for regulated gene expression
-
NJ Biery ZA Eldadah CS Moore G Stetten F Spencer HC Dietz Revised genomic organization of FBN1 and significance for regulated gene expression Genomics 56 1999 70 77
-
(1999)
Genomics
, vol.56
, pp. 70-77
-
-
Biery, NJ1
Eldadah, ZA2
Moore, CS3
Stetten, G4
Spencer, F5
Dietz, HC6
-
4
-
-
0029983276
-
Software and database for the analysis of mutations in the human FBN1 gene
-
G Collod C Béroud T Soussi C Junien C Boileau Software and database for the analysis of mutations in the human FBN1 gene Nucleic Acids Res 24 1996 137 140
-
(1996)
Nucleic Acids Res
, vol.24
, pp. 137-140
-
-
Collod, G1
Béroud, C2
Soussi, T3
Junien, C4
Boileau, C5
-
5
-
-
1842336810
-
Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene
-
G Collod-Béroud C Béroud L Adès C Black M Boxer DJ Brock M Godfrey Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene Nucleic Acids Res 25 1997 147 150
-
(1997)
Nucleic Acids Res
, vol.25
, pp. 147-150
-
-
Collod-Béroud, G1
Béroud, C2
Adès, L3
Black, C4
Boxer, M5
Brock, DJ6
Godfrey, M7
-
7
-
-
0027257818
-
Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5′ end
-
GM Corson SC Chalberg HC Dietz NL Charbonneau LS Sakai Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5′ end Genomics 17 1993 476 484
-
(1993)
Genomics
, vol.17
, pp. 476-484
-
-
Corson, GM1
Chalberg, SC2
Dietz, HC3
Charbonneau, NL4
Sakai, LS5
-
10
-
-
0027261517
-
Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome
-
H Dietz I McIntosh L Sakai G Corson S Chalberg R Pyeritz C Francomano Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome Genomics 17 1993 468 475
-
(1993)
Genomics
, vol.17
, pp. 468-475
-
-
Dietz, H1
McIntosh, I2
Sakai, L3
Corson, G4
Chalberg, S5
Pyeritz, R6
Francomano, C7
-
13
-
-
0027942376
-
A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly
-
C Hayward ME Porteous DJ Brock A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly Mol Cell Probes 8 1994 325 327
-
(1994)
Mol Cell Probes
, vol.8
, pp. 325-327
-
-
Hayward, C1
Porteous, ME2
Brock, DJ3
-
14
-
-
0021171594
-
The genes coding for alpha-, beta-, and gamma-chains of fibrinogen map to 4q2
-
I Henry G Uzan H Nicolas JC Kaplan C Marguerie A Kahn C Junien The genes coding for alpha-, beta-, and gamma-chains of fibrinogen map to 4q2 Am J Hum Genet 36 1984 760 768
-
(1984)
Am J Hum Genet
, vol.36
, pp. 760-768
-
-
Henry, I1
Uzan, G2
Nicolas, H3
Kaplan, JC4
Marguerie, C5
Kahn, A6
Junien, C7
-
15
-
-
0025335330
-
Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome
-
DW Hollister M Godfrey L Sakai Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome N Engl J Med 323 1990 152 159
-
(1990)
N Engl J Med
, vol.323
, pp. 152-159
-
-
Hollister, DW1
Godfrey, M2
Sakai, L3
-
16
-
-
0028335388
-
Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome
-
K Kainulainen L Karttunen L Puhakka L Sakai L Peltonen Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome Nat Genet 6 1994 64 69
-
(1994)
Nat Genet
, vol.6
, pp. 64-69
-
-
Kainulainen, K1
Karttunen, L2
Puhakka, L3
Sakai, L4
Peltonen, L5
-
18
-
-
0026002215
-
Localisation of the fibrillin (FBN) gene to chromosome 15, band q21.1
-
RE Magenis CL Maslen L Smith Localisation of the fibrillin (FBN) gene to chromosome 15, band q21.1 Genomics 11 1991 346 351
-
(1991)
Genomics
, vol.11
, pp. 346-351
-
-
Magenis, RE1
Maslen, CL2
Smith, L3
-
19
-
-
0026585419
-
Marfan syndrome: defective synthesis, secretion, and extracellular matrix, formation of fibrillin by cultured dermal fibroblasts
-
D Milewicz RE Pyeritz ES Crawford P Byers Marfan syndrome: defective synthesis, secretion, and extracellular matrix, formation of fibrillin by cultured dermal fibroblasts J Clin Invest 89 1992 79 86
-
(1992)
J Clin Invest
, vol.89
, pp. 79-86
-
-
Milewicz, D1
Pyeritz, RE2
Crawford, ES3
Byers, P4
-
22
-
-
0027313286
-
Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan Syndrome
-
L Pereira M D'Alesio F Ramirez JR Lynch B Sykes T Pangilian J Bonadio Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan Syndrome Hum Mol Genet 2 1993 961 968
-
(1993)
Hum Mol Genet
, vol.2
, pp. 961-968
-
-
Pereira, L1
D'Alesio, M2
Ramirez, F3
Lynch, JR4
Sykes, B5
Pangilian, T6
Bonadio, J7
-
23
-
-
0018393854
-
Marfan syndrome: diagnosis and management
-
RE Pyeritz VA McKusick Marfan syndrome: diagnosis and management N Engl J Med 300 1979 772 777
-
(1979)
N Engl J Med
, vol.300
, pp. 772-777
-
-
Pyeritz, RE1
McKusick, VA2
-
24
-
-
0343022274
-
Recurrence of Marfan syndrome as a result of parental germ-line mosaicism for an FBN1 mutation
-
T Rantamaki I Kaitila AC Syvanen M Lukka L Peltonen Recurrence of Marfan syndrome as a result of parental germ-line mosaicism for an FBN1 mutation Am J Hum Genet 64 1999 993 1001
-
(1999)
Am J Hum Genet
, vol.64
, pp. 993-1001
-
-
Rantamaki, T1
Kaitila, I2
Syvanen, AC3
Lukka, M4
Peltonen, L5
-
25
-
-
0023002893
-
Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils
-
L Sakai DR Keene E Engvall Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils J Cell Biol 103 1986 2499 2509
-
(1986)
J Cell Biol
, vol.103
, pp. 2499-2509
-
-
Sakai, L1
Keene, DR2
Engvall, E3
-
26
-
-
0030020322
-
Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome
-
S Sood ZA Eldadah WL Krauss I McIntosh HC Dietz Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome Nat Genet 12 1996 209 211
-
(1996)
Nat Genet
, vol.12
, pp. 209-211
-
-
Sood, S1
Eldadah, ZA2
Krauss, WL3
McIntosh, I4
Dietz, HC5
|