-
1
-
-
0014480976
-
Cardiac abnormalities in the Ehlers-Danlos syndrome
-
Beighton P (1969) Cardiac abnormalities in the Ehlers-Danlos syndrome. Br Heart J 31:227-232
-
(1969)
Br Heart J
, vol.31
, pp. 227-232
-
-
Beighton, P.1
-
2
-
-
0029963145
-
A novel X-linked gene, G4.5, is responsible for Barth syndrome
-
Bione S, D'Adamo P, Maestrini E, Gedeon AK, Bolhuis PA, Toniolo D (1996) A novel X-linked gene, G4.5, is responsible for Barth syndrome. Nat Genet 12:385-389
-
(1996)
Nat Genet
, vol.12
, pp. 385-389
-
-
Bione, S.1
D'Adamo, P.2
Maestrini, E.3
Gedeon, A.K.4
Bolhuis, P.A.5
Toniolo, D.6
-
3
-
-
0020463491
-
Inheritance of mitral valve prolapse: Effect of age and sex on gene expression
-
Devereux RB, Brown WT, Framer-Fox R, Sachs I (1982) Inheritance of mitral valve prolapse: effect of age and sex on gene expression. Ann Intern Med 97:826-832
-
(1982)
Ann Intern Med
, vol.97
, pp. 826-832
-
-
Devereux, R.B.1
Brown, W.T.2
Framer-Fox, R.3
Sachs, I.4
-
4
-
-
0031035442
-
Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita
-
Devriendt K, Matthijs G, Legius E, Schollen E, Blockmans D, Van Geet C, Degreef H, et al (1997) Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita. Am J Hum Genet 60:581-587
-
(1997)
Am J Hum Genet
, vol.60
, pp. 581-587
-
-
Devriendt, K.1
Matthijs, G.2
Legius, E.3
Schollen, E.4
Blockmans, D.5
Van Geet, C.6
Degreef, H.7
-
5
-
-
13344259999
-
A comprehensive genetic map of the human genome based on 5,264 microsatellites
-
Dib C, Fauré S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
-
(1996)
Nature
, vol.380
, pp. 152-154
-
-
Dib, C.1
Fauré, S.2
Fizames, C.3
Samson, D.4
Drouot, N.5
Vignal, A.6
Millasseau, P.7
-
6
-
-
0024550294
-
Deduced protein sequence of bone small proteoglycan I (biglycan) shows homology with proteoglycan II (decorin) and several nonconnective tissue proteins in a variety of species
-
Fisher LW, Termine JD, Young MF (1989) Deduced protein sequence of bone small proteoglycan I (biglycan) shows homology with proteoglycan II (decorin) and several nonconnective tissue proteins in a variety of species. J Biol Chem 264:4571-4576
-
(1989)
J Biol Chem
, vol.264
, pp. 4571-4576
-
-
Fisher, L.W.1
Termine, J.D.2
Young, M.F.3
-
7
-
-
0027089750
-
Identification of a second pseudoautosomal region near the Xq and Yq telomeres
-
Freije D, Helms C, Watson MS, Donis-Keller H (1992) Identification of a second pseudoautosomal region near the Xq and Yq telomeres. Science 258:1784-1787
-
(1992)
Science
, vol.258
, pp. 1784-1787
-
-
Freije, D.1
Helms, C.2
Watson, M.S.3
Donis-Keller, H.4
-
8
-
-
0029015791
-
X-linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome
-
Gedeon AK, Wilson MJ, Colley AC, Silence DO, Mulley JC (1995) X-linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome. J Med Genet 32:383-388
-
(1995)
J Med Genet
, vol.32
, pp. 383-388
-
-
Gedeon, A.K.1
Wilson, M.J.2
Colley, A.C.3
Silence, D.O.4
Mulley, J.C.5
-
9
-
-
0024515516
-
Genetic evidence that mutations in the COL1A1, COL1A2, COL3A1, or COL5A2 collagen genes are not responsible for mitral valve prolapse
-
Henney AM, Tsipouras P, Schwartz RC, Child AH, Devereux RB, Leech GJ (1989) Genetic evidence that mutations in the COL1A1, COL1A2, COL3A1, or COL5A2 collagen genes are not responsible for mitral valve prolapse. Br Heart J 61: 292-299
-
(1989)
Br Heart J
, vol.61
, pp. 292-299
-
-
Henney, A.M.1
Tsipouras, P.2
Schwartz, R.C.3
Child, A.H.4
Devereux, R.B.5
Leech, G.J.6
-
10
-
-
0018957777
-
Report of the American Society of Echocardiography Committee on Nomenclature and Standards in Two-Dimensional Echocardiography
-
Henry LH, DeMaria A, Gramiak R, King DL, Kisslo JA, Popp R, Sahn DJ, et al (1980) Report of the American Society of Echocardiography Committee on Nomenclature and Standards in Two-Dimensional Echocardiography. Circulation 62:212-217
-
(1980)
Circulation
, vol.62
, pp. 212-217
-
-
Henry, L.H.1
Demaria, A.2
Gramiak, R.3
King, D.L.4
Kisslo, J.A.5
Popp, R.6
Sahn, D.J.7
-
11
-
-
0014560892
-
Prolapse of the posterior leaflet of the mitral valve occurring in eleven members of a family
-
Hunt D, Sloman G (1969) Prolapse of the posterior leaflet of the mitral valve occurring in eleven members of a family. Am Heart J 8:149-153
-
(1969)
Am Heart J
, vol.8
, pp. 149-153
-
-
Hunt, D.1
Sloman, G.2
-
12
-
-
0026879247
-
Isolation and sequence of two genes associated with a CpG island 5' of the factor VIII Gene
-
Kenwrick S, Levinson B, Taylor S, Shapiro A, Gitschier J (1992) Isolation and sequence of two genes associated with a CpG island 5' of the factor VIII Gene. Hum Mol Genet 1:179-186
-
(1992)
Hum Mol Genet
, vol.1
, pp. 179-186
-
-
Kenwrick, S.1
Levinson, B.2
Taylor, S.3
Shapiro, A.4
Gitschier, J.5
-
13
-
-
0019947447
-
"Myxomatous" mitral valves: Collagen dissolution as the primary defect
-
King BD, Clark MA, Baba N, Kilman JW, Wooley CF (1982) "Myxomatous" mitral valves: collagen dissolution as the primary defect. Circulation 66:288-296
-
(1982)
Circulation
, vol.66
, pp. 288-296
-
-
King, B.D.1
Clark, M.A.2
Baba, N.3
Kilman, J.W.4
Wooley, C.F.5
-
14
-
-
85030334816
-
Inheritance of mitral valve prolapse: Autosomal dominant with variable expression
-
Kramer R, Devereux RB, Brown WT, Sachs I (1981) Inheritance of mitral valve prolapse: autosomal dominant with variable expression. Am J Hum Genet Suppl 33:82A
-
(1981)
Am J Hum Genet Suppl
, vol.33
-
-
Kramer, R.1
Devereux, R.B.2
Brown, W.T.3
Sachs, I.4
-
15
-
-
0028241031
-
Haemophilia A diagnosis by simultaneous analysis of two variable dinucleotide tandem repeats within the factor VIII gene
-
Lalloz MR, Schwaab R, McVey JH, Michaelides K, Tuddenham EG (1994) Haemophilia A diagnosis by simultaneous analysis of two variable dinucleotide tandem repeats within the factor VIII gene. Br J Haematol 86:804-809
-
(1994)
Br J Haematol
, vol.86
, pp. 804-809
-
-
Lalloz, M.R.1
Schwaab, R.2
McVey, J.H.3
Michaelides, K.4
Tuddenham, E.G.5
-
16
-
-
0021344005
-
Easy calculations of LOD scores and genetic risks on small computers
-
Lathrop GM, Lalouel JM (1984) Easy calculations of LOD scores and genetic risks on small computers. Am J Hum Genet 36:460-465
-
(1984)
Am J Hum Genet
, vol.36
, pp. 460-465
-
-
Lathrop, G.M.1
Lalouel, J.M.2
-
18
-
-
0014515851
-
Possible X-linked congenital heart disease
-
Monteleone PL, Fagan LF (1969) Possible X-linked congenital heart disease. Circulation 39:611-614
-
(1969)
Circulation
, vol.39
, pp. 611-614
-
-
Monteleone, P.L.1
Fagan, L.F.2
-
19
-
-
0028023812
-
A DNA fragment from Xq21 replaces a deleted region containing the entire FVIII gene in a severe hemophilia A patient
-
Murru S, Casula L, Casarino L, Moi P, Rocchi M, Loi A, Annalena F, et al (1992) A DNA fragment from Xq21 replaces a deleted region containing the entire FVIII gene in a severe hemophilia A patient. Genomics 23:352-361
-
(1992)
Genomics
, vol.23
, pp. 352-361
-
-
Murru, S.1
Casula, L.2
Casarino, L.3
Moi, P.4
Rocchi, M.5
Loi, A.6
Annalena, F.7
-
21
-
-
0020620407
-
Mitral valve dysfunction in the Marian syndrome: Clinical and echocardiographic study of prevalence and natural history
-
Pyeritz RE, Wappel MA (1983) Mitral valve dysfunction in the Marian syndrome: clinical and echocardiographic study of prevalence and natural history. Am J Med 74:797-807
-
(1983)
Am J Med
, vol.74
, pp. 797-807
-
-
Pyeritz, R.E.1
Wappel, M.A.2
-
22
-
-
0020959944
-
Mitral valve prolapse in the general population. I. Epidemiologic features: The Framingham study
-
Savage DD, Garrison RJ, Devereux RB, Castelli WP, Anderson SJ, Levy D, McNamara PM, et al (1983) Mitral valve prolapse in the general population. I. Epidemiologic features: the Framingham study. Am Heart J 106:571-576
-
(1983)
Am Heart J
, vol.106
, pp. 571-576
-
-
Savage, D.D.1
Garrison, R.J.2
Devereux, R.B.3
Castelli, W.P.4
Anderson, S.J.5
Levy, D.6
McNamara, P.M.7
-
23
-
-
0029025486
-
Abnormalities in elastic fibers and other connective-tissue components of floppy mitral valve
-
Tamura K, Fukuda Y, Ishizaki M, Masuda Y, Yamanaka N, Ferrans VJ (1995) Abnormalities in elastic fibers and other connective-tissue components of floppy mitral valve. Am Heart J 6:1149-1158
-
(1995)
Am Heart J
, vol.6
, pp. 1149-1158
-
-
Tamura, K.1
Fukuda, Y.2
Ishizaki, M.3
Masuda, Y.4
Yamanaka, N.5
Ferrans, V.J.6
-
24
-
-
0026652099
-
Fine mapping of the human biglycan (BGN) gene within the Xq28 region employing a hybrid cell panel
-
Traupe H, van den Ouweland AMW, van Oost BA, Vogel W, Vetter U, Warren ST, Rocchi M, et al (1992) Fine mapping of the human biglycan (BGN) gene within the Xq28 region employing a hybrid cell panel. Genomics 13:481-483
-
(1992)
Genomics
, vol.13
, pp. 481-483
-
-
Traupe, H.1
Van Den Ouweland, A.M.W.2
Van Oost, B.A.3
Vogel, W.4
Vetter, U.5
Warren, S.T.6
Rocchi, M.7
-
25
-
-
0028234254
-
In vivo mitral valve morphology and motion in mitral valve prolapse
-
Weissman NJ, Pini R, Roman MJ, Kramer-Fox R, Andernsen HS, Devereux RB (1994) In vivo mitral valve morphology and motion in mitral valve prolapse. Am J Cardiol 73: 1080-1088
-
(1994)
Am J Cardiol
, vol.73
, pp. 1080-1088
-
-
Weissman, N.J.1
Pini, R.2
Roman, M.J.3
Kramer-Fox, R.4
Andernsen, H.S.5
Devereux, R.B.6
-
26
-
-
0024584407
-
Genetic segregation analysis of familial mitral valve prolapse shows no linkage of fibrillar collagen genes
-
Wordsworth P, Ogilvie D, Akhras F, Jackson G, Sykes B (1989) Genetic segregation analysis of familial mitral valve prolapse shows no linkage of fibrillar collagen genes. Br Heart J 61: 300-306
-
(1989)
Br Heart J
, vol.61
, pp. 300-306
-
-
Wordsworth, P.1
Ogilvie, D.2
Akhras, F.3
Jackson, G.4
Sykes, B.5
|