-
1
-
-
0035851312
-
Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome
-
B., Loeys, L., Nuytinck, I., Delvaux, S., De Bie, and A., De Paepe, " Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome, ", Arch. Intern Med., 161, 2447-2454 (2001). 2lq AIMDAP 0003-9926 (Pubitemid 33043118)
-
(2001)
Archives of Internal Medicine
, vol.161
, Issue.20
, pp. 2447-2454
-
-
Loeys, B.1
Nuytinck, L.2
Delvaux, I.3
De Bie, S.4
De Paepe, A.5
-
2
-
-
33747016789
-
Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders
-
DOI 10.1002/humu.20353
-
G., Matyas, E., Arnold, T., Carrel, D., Baumgartner, C., Boileau, W., Berger, and B., Steinmann, " Identification and, in silico, analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders, ", Hum. Mutat., 27, 760-769 (2006). 3qb HUMUE3 1059-7794 (Pubitemid 44205069)
-
(2006)
Human Mutation
, vol.27
, Issue.8
, pp. 760-769
-
-
Matyas, G.1
Arnold, E.2
Carrel, T.3
Baumgartner, D.4
Boileau, C.5
Berger, W.6
Steinmann, B.7
-
3
-
-
33747030405
-
TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome
-
DOI 10.1002/humu.20354
-
K. K., Singh, K., Rommel, A., Mishra, M., Karck, A., Haverich, J., Schmidtke, and M., Arslan-Kirchner, " TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome, ", Hum. Mutat., 27, 770-777 (2006). 3qb HUMUE3 1059-7794 (Pubitemid 44205070)
-
(2006)
Human Mutation
, vol.27
, Issue.8
, pp. 770-777
-
-
Singh, K.K.1
Rommel, K.2
Mishra, A.3
Karck, M.4
Haverich, A.5
Schmidtke, J.6
Arslan-Kirchner, M.7
-
4
-
-
3543013177
-
Heterozygous TGFBR2 mutations in Marfan syndrome
-
3ql NGENEC 1061-4036
-
T., Mizuguchi, G., Collod-Beriubd, T., Akiyama, M., Abifadel, N., Harada, T., Morisaki, D., Allard, M., Varret, M., Claustres, H., Morisaki, M., Ihara, A., Kinoshita, K., Yoshiura, C., Junien, T., Jajii, G., Jondeau, T., Ohta, T., Kishino, Y., Furukawa, Y., Nakanura, N., Niikawa, C., Boileau, and N., Matsumoto, " Heterozygous TGFBR2 mutations in Marfan syndrome, ", Nat. Genet., 36, 855-860 (2004). 3ql NGENEC 1061-4036
-
(2004)
Nat. Genet.
, vol.36
, pp. 855-860
-
-
Mizuguchi, T.1
Collod-Beriubd, G.2
Akiyama, T.3
Abifadel, M.4
Harada, N.5
Morisaki, T.6
Allard, D.7
Varret, M.8
Claustres, M.9
Morisaki, H.10
Ihara, M.11
Kinoshita, A.12
Yoshiura, K.13
Junien, C.14
Jajii, T.15
Jondeau, G.16
Ohta, T.17
Kishino, T.18
Furukawa, Y.19
Nakanura, Y.20
Niikawa, N.21
Boileau, C.22
Matsumoto, N.23
more..
-
5
-
-
23044438103
-
Mutations in transforming growth factor-β receptor type II cause familial thoracic aortic aneurysms and dissections
-
DOI 10.1161/CIRCULATIONAHA.105.537340
-
H., Pannu, V. T., Fadulu, J., Chang, A., Lafont, S. N., Hasham, E., Sparks, P. F., Giampietro, C., Zaleski, A. L., Estrera, H. J., Safi, S., Shete, M. C., Willing, C. S., Raman, and D. M., Milewicz, " Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections, ", Circulation, 112, 513-520 (2005). cir CIRCAZ 0009-7322 (Pubitemid 41060791)
-
(2005)
Circulation
, vol.112
, Issue.4
, pp. 513-520
-
-
Pannu, H.1
Fadulu, V.T.2
Chang, J.3
Lafont, A.4
Hasham, S.N.5
Sparks, E.6
Giampietro, P.F.7
Zaleski, C.8
Estrera, A.L.9
Safi, H.J.10
Shete, S.11
Willing, M.C.12
Raman, C.S.13
Milewicz, D.M.14
-
6
-
-
28444432646
-
Genetic basis of thoracic aortic aneurysms and aortic dissections
-
DOI 10.1002/ajmg.c.30069
-
H., Pannu, V., Tran-Fadulu, and D. M., Milewicz, " Genetic basis of thoracic aortic aneurysms and aortic dissections, ", Am. J. Med. Genet., 139, 10-16 (2005). 2db ZZZZZZ 0148-7299 (Pubitemid 41739242)
-
(2005)
American Journal of Medical Genetics - Seminars in Medical Genetics
, vol.139
, Issue.1
, pp. 10-16
-
-
Pannu, H.1
Tran-Fadulu, V.2
Milewicz, D.M.3
-
7
-
-
0035912809
-
Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI
-
DOI 10.1073/pnas.121027598
-
O., Camacho Vanegas, E., Bertini, R. Z., Zhang, S., Petrini, C., Minosse, P., Sabatelli, B., Giusti, M. L., Chu, and G., Pepe, " Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI, ", Proc. Natl. Acad. Sci. U.S.A., 98, 7516-7521 (2001). pna PNASA6 0027-8424 (Pubitemid 32567980)
-
(2001)
Proceedings of the National Academy of Sciences of the United States of America
, vol.98
, Issue.13
, pp. 7516-7521
-
-
Vanegas, O.C.1
Bertini, E.2
Zhang, R.-Z.3
Petrini, S.4
Minosse, C.5
Sabatelli, P.6
Giusti, B.7
Chu, M.-L.8
Pepe, G.9
-
8
-
-
0041664084
-
New molecular mechanism for Ullrich congenital muscular dystrophy: A heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype
-
DOI 10.1086/377107
-
T.-C., Pan, R.-Z., Zhang, D. G., Sudano, S. K., Marie, C. G., Bonnemann, and M. L., Chu, " New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous, in frame, deletion in the COL6A1 gene causes a severe phenotype, ", Am. J. Med. Genet., 73, 355-369 (2003). 2db ZZZZZZ 0148-7299 (Pubitemid 36920997)
-
(2003)
American Journal of Human Genetics
, vol.73
, Issue.2
, pp. 355-369
-
-
Pan, T.-C.1
Zhang, R.-Z.2
Sudano, D.G.3
Marie, S.K.4
Bonnemann, C.G.5
Chu, M.-L.6
-
9
-
-
0036378561
-
Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy
-
E., Bertini and G., Pepe, " Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy, ", Eur. J. Paediatr. Neurol., 6, 193-198 (2002).
-
(2002)
Eur. J. Paediatr. Neurol.
, vol.6
, pp. 193-198
-
-
Bertini, E.1
Pepe, G.2
-
10
-
-
24644481376
-
Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy
-
DOI 10.1002/ana.20586
-
B., Giusti, L., Lucarini, V., Pietroni, S., Lucioli, B., Bandinelli, P., Sabatelli, S., Squarzoni, S., Petrini, C., Gartioux, B., Talim, F., Roeles, L., Merlini, H., Topaloglu, E., Bestini, P., Guicheney, and G., Pepe, " Dominant and recessive Col6A1 mutations in Ullrich scleroatonic muscular dystrophy, ", Ann. Neurol., 58, 400-410 (2005). anw ANNED3 0364-5134 (Pubitemid 41266626)
-
(2005)
Annals of Neurology
, vol.58
, Issue.3
, pp. 400-410
-
-
Giusti, B.1
Lucarini, L.2
Pietroni, V.3
Lucioli, S.4
Bandinelli, B.5
Sabatelli, P.6
Squarzoni, S.7
Petrini, S.8
Gartioux, C.9
Talim, B.10
Roelens, F.11
Merlini, L.12
Topaloglu, H.13
Bertini, E.14
Guicheney, P.15
Pepe, G.16
-
11
-
-
22144480342
-
Multicolor imaging autofluorescence microscopy: A new technique for the discrimination of normal and neoplastic tissues and cells
-
Ed., Transworld Research Network, Trivandrum, India
-
F., Fusi, G., Agati, M., Monici, R., Pratesi, S., Romano, and P. A., Bernabei, " Multicolor imaging autofluorescence microscopy: a new technique for the discrimination of normal and neoplastic tissues and cells, " in, Recent Research Developments in Photochemistry and Photobiology, S. G., Pandalai, Ed., pp. 79-93, Transworld Research Network, Trivandrum, India (2002).
-
(2002)
Recent Research Developments in Photochemistry and Photobiology
, pp. 79-93
-
-
Fusi, F.1
Agati, G.2
Monici, M.3
Pratesi, R.4
Romano, S.5
Bernabei, P.A.6
Pandalai, S.G.7
-
12
-
-
0002274084
-
Die fluorezenz tierischer gewebe in ultravioletten licht
-
6jy AGPPAS 0365-267X
-
H., Stübel, " Die fluorezenz tierischer gewebe in ultravioletten licht, ", Pfluegers Arch. Gesamte Physiol. Menschen Tiere, 142, 1-14 (1911). 6jy AGPPAS 0365-267X
-
(1911)
Pfluegers Arch. Gesamte Physiol. Menschen Tiere
, vol.142
, pp. 1-14
-
-
Stübel, H.1
-
13
-
-
0029640071
-
Superresolution three-dimensional images of fluorescence in cells with minimal light exposure
-
sci SCIEAS 0036-8075
-
W. A., Carrington, R. M., Lynch, E. D., Moore, G., Isenberg, K. E., Fogarty, and F. S., Fay, " Superresolution three-dimensional images of fluorescence in cells with minimal light exposure, ", Science, 268, 483-487 (1995). sci SCIEAS 0036-8075
-
(1995)
Science
, vol.268
, pp. 483-487
-
-
Carrington, W.A.1
Lynch, R.M.2
Moore, E.D.3
Isenberg, G.4
Fogarty, K.E.5
Fay, F.S.6
-
14
-
-
27144515959
-
Cell and tissue autofluorescence research and diagnostic applications
-
DOI 10.1016/S1387-2656(05)11007-2, PII S1387265605110072
-
M., Monici, " Cell and tissue autofluorescence research and diagnostic application, ", Biotechnol. Annu. Rev., 11, 227-256 (2005). 8k5 BAREFD (Pubitemid 41510279)
-
(2005)
Biotechnology Annual Review
, vol.11
, Issue.SUPPL.
, pp. 227-256
-
-
Monici, M.1
-
15
-
-
0033089192
-
Dependence of fibroblast autofluorescence properties on normal and transformed conditions. Role of the metabolic activity
-
A. C., Croce, A., Spano, D., Locatelli, S., Barni, L., Sciola, and G., Bottiroli, " Dependence of fibroblasts autofluorescence properties on normal and transformed conditions. Role of metabolic activity, ", Photochem. Photobiol., 69, 364-374 (1999). pho PHCBAP 0031-8655 10.1562/0031-8655(1999)069<0364:DOFAPO>2.3.CO;2 (Pubitemid 129554865)
-
(1999)
Photochemistry and Photobiology
, vol.69
, Issue.3
, pp. 364-374
-
-
Croce, A.C.1
Spano, A.2
Locatelli, D.3
Barni, S.4
Sciola, L.5
Bottiroli, G.6
-
16
-
-
0003168433
-
Redox confocal imaging: Intrinsic fluorescent probes of cellular metabolism
-
Ed., Academic, London
-
B. R., Masters and B., Chance, " Redox confocal imaging: intrinsic fluorescent probes of cellular metabolism, " in, Fluorescent and Luminescent Probes for Biological Activity, W. T., Matson, Ed., pp. 44-56, Academic, London (1993).
-
(1993)
Fluorescent and Luminescent Probes for Biological Activity
, pp. 44-56
-
-
Masters, B.R.1
Chance, B.2
Matson, W.T.3
-
17
-
-
0033525773
-
Mitochondrial diseases in man and mouse
-
sci SCIEAS 0036-8075
-
D. C., Wallace, " Mitochondrial diseases in man and mouse, ", Science, 283, 1482-1493 (1999). sci SCIEAS 0036-8075
-
(1999)
Science
, vol.283
, pp. 1482-1493
-
-
Wallace, D.C.1
-
18
-
-
0031859765
-
Autofluorescence of living cells
-
DOI 10.1046/j.1365-2818.1998.00347.x
-
H., Andersson, T., Baechi, M., Hoechl, and C., Richter, " Autofluorescence of living cells, ", J. Microsc., 191, 1-7 (1998). jmi JMICAR 0022-2720 10.1046/j.1365-2818.1998.00347.x (Pubitemid 28352770)
-
(1998)
Journal of Microscopy
, vol.191
, Issue.1
, pp. 1-7
-
-
Andersson, H.1
Baechi, T.2
Hoechl, M.3
Richter, C.4
-
19
-
-
0031831404
-
Fibroblast models of neurological disorders: Fluorescence measurement studies
-
DOI 10.1016/S0165-6147(98)01202-4
-
G. P., Connolly, " Fibroblast models of neurological disorders: fluorescence measurement studies, ", Trends Pharmacol. Sci., 19, 171-177 (1998). 7mb TPHSDY 0165-6147 (Pubitemid 28255403)
-
(1998)
Trends in Pharmacological Sciences
, vol.19
, Issue.5
, pp. 171-177
-
-
Connolly, G.P.1
-
20
-
-
70350624038
-
Biological imaging spectroscopy
-
Ed., chr. 8, p, CRC Press, Boca Raton, FL
-
G., Bearman and R., Levenson, " Biological imaging spectroscopy, " in, Biomedical Photonics Handbook, T., Vo-Dinh, Ed., chr. 8, pp. 1-25, CRC Press, Boca Raton, FL (2003).
-
(2003)
Biomedical Photonics Handbook
, pp. 1-25
-
-
Bearman, G.1
Levenson, R.2
Vo-Dinh, T.3
-
21
-
-
0033030311
-
A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen
-
DOI 10.1016/S0960-8966(99)00014-0, PII S0960896699000140
-
G., Pepe, E., Bertini, B., Giusti, T., Brunelli, P., Comeglio, B., Saitta, L., Merlini, M. L., Chu, G., Federici, and R., Abbate, " A novel, de novo, mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutation's screening of type VI collagen, ", Neuromuscul Disord., 258, 264-271 (1999). 3lw ZZZZZZ 0960-8966 (Pubitemid 29287264)
-
(1999)
Neuromuscular Disorders
, vol.9
, Issue.4
, pp. 264-271
-
-
Pepe, G.1
Bertini, E.2
Giusti, B.3
Brunelli, T.4
Comeglio, P.5
Saitta, B.6
Merlini, L.7
Chu, M.L.8
Federici, G.9
Abbate, R.10
-
22
-
-
0033583788
-
A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the α1(VI) collagen chain in an Italian family affected by Bethlem myopathy
-
DOI 10.1006/bbrc.1999.0680
-
G., Pepe, B., Giusti, E., Bertini, T., Brunelli, B., Saitta, P., Comeglio, A., Bolognese, L., Merlini, G., Federici, R., Abbate, and M. L., Chu., " A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an Italian family affected by Bethlem myopathy, ", Biochem. Biophys. Res. Commun., 258, 802-807 (1999). bbr BBRCA9 0006-291X (Pubitemid 29290351)
-
(1999)
Biochemical and Biophysical Research Communications
, vol.258
, Issue.3
, pp. 802-807
-
-
Pepe, G.1
Giusti, B.2
Bertini, E.3
Brunelli, T.4
Saitta, B.5
Comeglio, P.6
Bolognese, A.7
Merlini, L.8
Federici, G.9
Abbate, R.10
Chu, M.-L.11
-
23
-
-
0029971236
-
Revised diagnostic criteria for the Marfan syndrome
-
DOI 10.1002/(SICI)1096-8628(19960424)62:4<417::AID-AJMG15>3.0.CO;2- R
-
A., De Paepe, R. B., Devereux, H. C., Dietz, R. C. M., Hennekam, and R. E., Pyeritz, " Revised diagnostic criteria for the Marfan syndrome, ", Am. J. Med. Genet., 62, 417-426 (1996). 2db ZZZZZZ 0148-7299 (Pubitemid 26131122)
-
(1996)
American Journal of Medical Genetics
, vol.62
, Issue.4
, pp. 417-426
-
-
De Paepe, A.1
Devereux, R.B.2
Dietz, H.C.3
Hennekam, R.C.M.4
Pyeritz, R.E.5
-
24
-
-
0018763698
-
Autofluorescence of viable cultured mammalian cells
-
J. E., Aubin, " Autofluorescence of viable cultured mammalian cells, ", J. Histochem. Cytochem., 27, 36-43 (1979). yas JHCYAS 0022-1554 (Pubitemid 9131769)
-
(1979)
Journal of Histochemistry and Cytochemistry
, vol.27
, Issue.1
, pp. 36-43
-
-
Aubin, J.E.1
-
25
-
-
0035092972
-
Lipofuscin accumulation in proliferating fibroblasts in vitro: An indicator of oxidative stress
-
DOI 10.1016/S0531-5565(00)00253-9, PII S0531556500002539
-
N., Sitte, K., Merker, T., Grune, and T., von Zglinicki, " Lipofuscin accumulation in proliferating fibroblasts, in vitro: an indicator of oxidative stress, ", Exp. Gerontol., 36, 475-486 (2001). 4m3 ZZZZZZ 0531-5565 (Pubitemid 32201503)
-
(2001)
Experimental Gerontology
, vol.36
, Issue.3
, pp. 475-486
-
-
Sitte, N.1
Merker, K.2
Grune, T.3
Von Zglinicki, T.4
-
26
-
-
0031604586
-
The architecture of life
-
sca SCAMAC 0036-8733
-
D. E., Ingber, " The architecture of life, ", Sci. Am., 278, 48-57 (1998). sca SCAMAC 0036-8733
-
(1998)
Sci. Am.
, vol.278
, pp. 48-57
-
-
Ingber, D.E.1
-
27
-
-
0029029036
-
Cultured skin fibroblasts derived from patients with mucolipidosis 4 are auto-fluorescent
-
ped PEREBL 0031-3998
-
E., Goldin, E. J., Blanchette-Mackie, N. K., Dwyer, P. G., Pentchev, and R. O., Brady, " Cultured skin fibroblasts derived from patients with mucolipidosis 4 are auto-fluorescent, ", Pediatr. Res., 37, 687-692 (1995). ped PEREBL 0031-3998
-
(1995)
Pediatr. Res.
, vol.37
, pp. 687-692
-
-
Goldin, E.1
Blanchette-Mackie, E.J.2
Dwyer, N.K.3
Pentchev, P.G.4
Brady, R.O.5
-
28
-
-
0027200423
-
Juvenile neuronal ceroid-lipofuscinosis: Characterization of the dyslipoproteinaemia and demonstration of membrane phospholipid and phospholipid-dependent signal transduction abnormalities in cultured skin fibroblasts
-
M. J., Bennett, S. F., Poirier, L., Chern, A. R., Gayton, G. P., Hosking, N.-A., Le, S., Majumdar, and H. M., Korchak, " Juvenile neuronal ceroid-lipofuscinosis: characterization of the dyslipoproteinaemia and demonstration of membrane phospholipid and phospholipid-dependent signal transduction abnormalities in cultured skin fibroblasts, ", J. Inherit Metab. Dis., 16, 308-311 (1993). 5tq ZZZZZZ 0141-8955 (Pubitemid 23213656)
-
(1993)
Journal of Inherited Metabolic Disease
, vol.16
, Issue.2
, pp. 308-311
-
-
Bennett, M.J.1
Poirier, S.F.2
Chern, L.3
Gayton, A.R.4
Hosking, G.P.5
Le, N.-A.6
Majumdar, S.7
Korchak, H.M.8
-
29
-
-
0035845214
-
Spaceflight and clinorotation cause cytoskeleton and mitochondria changes and increases in apoptosis in cultured cells
-
DOI 10.1016/S0094-5765(01)00116-3, PII S0094576501001163
-
H., Schatten, M. L., Lewis, and A., Chakrabarti, " Spaceflight and clinorotation cause cytoskeleton and mitochondria changes and increases in apoptosis in cultured cells, ", Acta Astronaut., 49, 399-418 (2001). 8p7 AASTCF 0094-5765 (Pubitemid 33074362)
-
(2001)
Acta Astronautica
, vol.49
, Issue.3-10
, pp. 399-418
-
-
Schatten, H.1
Lewis, M.L.2
Chakrabarti, A.3
|