-
1
-
-
0037373809
-
Prevalence of and predictors of bicuspid aortic valves in patients with dilated aortic roots
-
Alegret JM, Duran I, Palazon O, Vernis JM, Ameijide A, Rabassa A, Masana L. 2003. Prevalence of and predictors of bicuspid aortic valves in patients with dilated aortic roots. Am J Cardiol 91:619-622.
-
(2003)
Am J Cardiol
, vol.91
, pp. 619-622
-
-
Alegret, J.M.1
Duran, I.2
Palazon, O.3
Vernis, J.M.4
Ameijide, A.5
Rabassa, A.6
Masana, L.7
-
2
-
-
0020514680
-
Acute lymphoblastic leukemia in two children with a congenital chromosome anomaly: Familial inv(11)(p15q13) in one and ring chromosome no. 21 in the other
-
Cabrol C, Werner-Favre C, Wyss M, Pitmon D, Engel E. 1983. Acute lymphoblastic leukemia in two children with a congenital chromosome anomaly: Familial inv(11)(p15q13) in one and ring chromosome no. 21 in the other. Cancer Genet Cytogenet 8:67-74.
-
(1983)
Cancer Genet Cytogenet
, vol.8
, pp. 67-74
-
-
Cabrol, C.1
Werner-Favre, C.2
Wyss, M.3
Pitmon, D.4
Engel, E.5
-
3
-
-
0022389367
-
Peters' anomaly in association with ring 21 chromosomal abnormality
-
Cibis GW, Waeltermann J, Harris DJ. 1985. Peters' anomaly in association with ring 21 chromosomal abnormality. Am J Ophthalmol 100:733-734.
-
(1985)
Am J Ophthalmol
, vol.100
, pp. 733-734
-
-
Cibis, G.W.1
Waeltermann, J.2
Harris, D.J.3
-
4
-
-
0028973271
-
Characterization of a ring chromosome 21 by fish-technique
-
Conte RA, Luke S, Verma RS. 1995. Characterization of a ring chromosome 21 by fish-technique. Clin Genet 48:188-191.
-
(1995)
Clin Genet
, vol.48
, pp. 188-191
-
-
Conte, R.A.1
Luke, S.2
Verma, R.S.3
-
5
-
-
0022457113
-
Ring chromosome 21 in healthy persons: Different consequences in females and in males
-
Dallapiccola B, De Filippis V, Notarangelo A, Perla G, Zelante L. 1986. Ring chromosome 21 in healthy persons: Different consequences in females and in males. Hum Genet 73:218-220.
-
(1986)
Hum Genet
, vol.73
, pp. 218-220
-
-
Dallapiccola, B.1
De Filippis, V.2
Notarangelo, A.3
Perla, G.4
Zelante, L.5
-
7
-
-
0025236795
-
Expression of genes encoding two chains of the collagen type VI molecule during human fetal heart development
-
Duff K, Williamson R, Richards SJ. 1990. Expression of genes encoding two chains of the collagen type VI molecule during human fetal heart development. Int J Cardiol 27(1):128-129.
-
(1990)
Int J Cardiol
, vol.27
, Issue.1
, pp. 128-129
-
-
Duff, K.1
Williamson, R.2
Richards, S.J.3
-
8
-
-
0017735920
-
Partial monosomy of a chromosome of the group g (21q-) associated with mesomelic nanism with dominat autosomal transmission
-
Duillo MT. 1977. Partial monosomy of a chromosome of the group g (21q-) associated with mesomelic nanism with dominat autosomal transmission. Minerva Pediatr 29:1341-1348.
-
(1977)
Minerva Pediatr
, vol.29
, pp. 1341-1348
-
-
Duillo, M.T.1
-
9
-
-
0022271408
-
Structure and macromolecular organization of type vi collagen
-
Engel J, Furthmayr H, Odermatt E, Von Der Mark H, Aumailley M, Fleischmajer R, Timpl R. 1985. Structure and macromolecular organization of type vi collagen. Ann NY Acad Sci 460:25-37.
-
(1985)
Ann NY Acad Sci
, vol.460
, pp. 25-37
-
-
Engel, J.1
Furthmayr, H.2
Odermatt, E.3
Von Der Mark, H.4
Aumailley, M.5
Fleischmajer, R.6
Timpl, R.7
-
10
-
-
0020567752
-
Partial monosomy for a 21 chromosome. Report of a new case of r(21) and review of the literature
-
Ferrante E, Vignetti P, Antonelli M, Bruni L, Bertasi S, Chessa L. 1983. Partial monosomy for a 21 chromosome. Report of a new case of r(21) and review of the literature. Helv Paediatr Acta 38:73-80.
-
(1983)
Helv Paediatr Acta
, vol.38
, pp. 73-80
-
-
Ferrante, E.1
Vignetti, P.2
Antonelli, M.3
Bruni, L.4
Bertasi, S.5
Chessa, L.6
-
12
-
-
0023412991
-
Holoprosencephaly associated with ring chromosome 21
-
Hoovers JM, Jansweijer MC. 1987. Holoprosencephaly associated with ring chromosome 21. Clin Genet 32:207.
-
(1987)
Clin Genet
, vol.32
, pp. 207
-
-
Hoovers, J.M.1
Jansweijer, M.C.2
-
13
-
-
0031540602
-
A prospective study to assess the frequency of familial clustering of congenital bicuspid aortic valve
-
Huntington K, Hunter AG, Chan KL. 1997. A prospective study to assess the frequency of familial clustering of congenital bicuspid aortic valve. J Am Coll Cardiol 30:1809-1812.
-
(1997)
J Am Coll Cardiol
, vol.30
, pp. 1809-1812
-
-
Huntington, K.1
Hunter, A.G.2
Chan, K.L.3
-
14
-
-
0022371875
-
Ring chromosome 21 in a phenotypically normal but infertile man
-
Huret JL, Leonard C, Kanoui V. 1985. Ring chromosome 21 in a phenotypically normal but infertile man. Clin Genet 28:541-545.
-
(1985)
Clin Genet
, vol.28
, pp. 541-545
-
-
Huret, J.L.1
Leonard, C.2
Kanoui, V.3
-
16
-
-
0029988596
-
Genetic localization of bethlem myopathy
-
Jobsis GJ, Bolhuis PA, Boers JM, Baas F, Wolterman RA, Hensels GW, De Visser M. 1996. Genetic localization of bethlem myopathy. Neurology 46(3):779-782.
-
(1996)
Neurology
, vol.46
, Issue.3
, pp. 779-782
-
-
Jobsis, G.J.1
Bolhuis, P.A.2
Boers, J.M.3
Baas, F.4
Wolterman, R.A.5
Hensels, G.W.6
De Visser, M.7
-
17
-
-
0021257824
-
Ring chromosome 21 in a normal female
-
Kleczkowska A, Fryns JP. 1984. Ring chromosome 21 in a normal female. Ann Genet 27:126-128.
-
(1984)
Ann Genet
, vol.27
, pp. 126-128
-
-
Kleczkowska, A.1
Fryns, J.P.2
-
19
-
-
0016773865
-
A dysplasia-epilepsy syndrome in a patient with ring chromosome 21
-
Kunze J, Doose H, Tolksdorf M. 1975. A dysplasia-epilepsy syndrome in a patient with ring chromosome 21. Neuropadiatrie 6:398-402.
-
(1975)
Neuropadiatrie
, vol.6
, pp. 398-402
-
-
Kunze, J.1
Doose, H.2
Tolksdorf, M.3
-
20
-
-
0017137480
-
Ring chromosome 21. A new case
-
Larget-Piet L, Berthelot J, Guittet J, Hamon A, Larget-Piet A, Rouchy R. 1976. Ring chromosome 21. A new case. Pediatric 31:539-549.
-
(1976)
Pediatric
, vol.31
, pp. 539-549
-
-
Larget-Piet, L.1
Berthelot, J.2
Guittet, J.3
Hamon, A.4
Larget-Piet, A.5
Rouchy, R.6
-
21
-
-
0038485888
-
Age-dependent iris abnormalities in collagen XVIII/endostatin deficient mice with similarities to human pigment dispersion syndrome
-
Marneros AG, Olsen BR. 2003. Age-dependent iris abnormalities in collagen XVIII/endostatin deficient mice with similarities to human pigment dispersion syndrome. Invest Ophthalmol Vis Sci 44(6):2367-2372.
-
(2003)
Invest Ophthalmol Vis Sci
, vol.44
, Issue.6
, pp. 2367-2372
-
-
Marneros, A.G.1
Olsen, B.R.2
-
22
-
-
0026518336
-
Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21
-
Mcginniss MJ, Kazazian HH Jr, Stetten G, Petersen MB, Boman H, Engel E, Greenberg F, Hertz JM, Johnson A, Laca Z, Mikkelsen M, Patil SR, Schinzel AA, Tranebjaerg L, Antonarakis SE. 1992. Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21. Am J Hum Genet 50:15-28.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 15-28
-
-
Mcginniss, M.J.1
Kazazian Jr., H.H.2
Stetten, G.3
Petersen, M.B.4
Boman, H.5
Engel, E.6
Greenberg, F.7
Hertz, J.M.8
Johnson, A.9
Laca, Z.10
Mikkelsen, M.11
Patil, S.R.12
Schinzel, A.A.13
Tranebjaerg, L.14
Antonarakis, S.E.15
-
23
-
-
0028556212
-
Lens dislocation and optic nerve hypoplasia in ring chromosome 21 mosaicism
-
Meire FM, Fryns JP. 1994. Lens dislocation and optic nerve hypoplasia in ring chromosome 21 mosaicism. Ann Genet 37:150-152.
-
(1994)
Ann Genet
, vol.37
, pp. 150-152
-
-
Meire, F.M.1
Fryns, J.P.2
-
24
-
-
9144253204
-
Knobloch syndrome: Novel mutations in col18a1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin
-
Menzel O, Bekkeheien RC, Reymond A, Fukai N, Boye E, Kosztolanyi G, Aftimos S, Deutsch S, Scott HS, Olsen BR, Antonarakis SE, Guipponi M. 2004. Knobloch syndrome: Novel mutations in col18a1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin. Hum Mutat 23(1):77-84.
-
(2004)
Hum Mutat
, vol.23
, Issue.1
, pp. 77-84
-
-
Menzel, O.1
Bekkeheien, R.C.2
Reymond, A.3
Fukai, N.4
Boye, E.5
Kosztolanyi, G.6
Aftimos, S.7
Deutsch, S.8
Scott, H.S.9
Olsen, B.R.10
Antonarakis, S.E.11
Guipponi, M.12
-
25
-
-
0037076508
-
Collagen VI involvement in Ullrich syndrome: A clinical, genetic, and immunohistochemical study
-
Mercuri E, Yuva Y, Brown SC, Brockington M, Kinali M, Jungbluth H, Feng L, Sewry CA, Muntoni F. 2002. Collagen VI involvement in Ullrich syndrome: A clinical, genetic, and immunohistochemical study. Neurology 58(9):1354-1359.
-
(2002)
Neurology
, vol.58
, Issue.9
, pp. 1354-1359
-
-
Mercuri, E.1
Yuva, Y.2
Brown, S.C.3
Brockington, M.4
Kinali, M.5
Jungbluth, H.6
Feng, L.7
Sewry, C.A.8
Muntoni, F.9
-
26
-
-
0023219280
-
Collagen species in human aorta: With special reference to basement membrane-associated collagens in the intima and media and their alteration with atherosclerosis
-
Murata K, Kotake C, Motoyama T. 1987. Collagen species in human aorta: With special reference to basement membrane-associated collagens in the intima and media and their alteration with atherosclerosis. Artery 14(4):229-247.
-
(1987)
Artery
, vol.14
, Issue.4
, pp. 229-247
-
-
Murata, K.1
Kotake, C.2
Motoyama, T.3
-
27
-
-
0035287902
-
Dilation of the ascending aorta in childhood: 4 cases without obvious predisposing disease
-
Pfammatter JP, Pavlovic M, Berdat P, Carrel T. 2001. Dilation of the ascending aorta in childhood: 4 cases without obvious predisposing disease. Cardiol Young 11:169-712.
-
(2001)
Cardiol Young
, vol.11
, pp. 169-712
-
-
Pfammatter, J.P.1
Pavlovic, M.2
Berdat, P.3
Carrel, T.4
-
28
-
-
0020056567
-
Acute megakaryoblastic leukaemia associated with intrinsic platelet dysfunction and constitution ring 21 chromosome in a young boy
-
Pui CH, Williams DL, Scarborough V, Jackson CW, Price R, Murphy S. 1982. Acute megakaryoblastic leukaemia associated with intrinsic platelet dysfunction and constitution ring 21 chromosome in a young boy. Br J Haematol 50:191-200.
-
(1982)
Br J Haematol
, vol.50
, pp. 191-200
-
-
Pui, C.H.1
Williams, D.L.2
Scarborough, V.3
Jackson, C.W.4
Price, R.5
Murphy, S.6
-
29
-
-
0019785453
-
Analysis of banding patterns in a case of ring chromosome 21
-
Richer CL, Fitch N, Sitahal S, Murer-Orlando M, Jean P. 1981. Analysis of banding patterns in a case of ring chromosome 21. Am J Med Genet 10:323-331.
-
(1981)
Am J Med Genet
, vol.10
, pp. 323-331
-
-
Richer, C.L.1
Fitch, N.2
Sitahal, S.3
Murer-Orlando, M.4
Jean, P.5
-
30
-
-
0028788577
-
Physical findings in 21q22 deletion suggest critical region for 21q- Phenotype in q22
-
Theodoropoulos DS, Cowan JM, Elias ER, Cole C. 1995. Physical findings in 21q22 deletion suggest critical region for 21q- phenotype in q22. Am J Med Genet 59:161-163.
-
(1995)
Am J Med Genet
, vol.59
, pp. 161-163
-
-
Theodoropoulos, D.S.1
Cowan, J.M.2
Elias, E.R.3
Cole, C.4
-
31
-
-
0032726424
-
The genetic basis of aortic disease. Marfan syndrome and beyond
-
Tsipouras P, Silverman DI. 1999. The genetic basis of aortic disease. Marfan syndrome and beyond. Cardiol Clin 17:683-696.
-
(1999)
Cardiol Clin
, vol.17
, pp. 683-696
-
-
Tsipouras, P.1
Silverman, D.I.2
|