-
1
-
-
0027439920
-
Barth syndrome: Clinical features and confirmation of gene localisation to distal Xq28
-
Adés AC, Gedeon AK, Wilson MJ, Latham M, Partington MW, Mulley JC, Nelson J, Lui K, Sillence DO (1993) Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28. Am J Med Genet 45:327-334
-
(1993)
Am J Med Genet
, vol.45
, pp. 327-334
-
-
Adés, A.C.1
Gedeon, A.K.2
Wilson, M.J.3
Latham, M.4
Partington, M.W.5
Mulley, J.C.6
Nelson, J.7
Lui, K.8
Sillence, D.O.9
-
2
-
-
0031043089
-
Heart transplantation for Barth syndrome
-
Adwani SS, Whitehead BF, Rees PG, Morris A, Turnball DM, Elliot MJ, Leval MR de (1997) Heart transplantation for Barth syndrome. Pediatr Cardiol 18:143-145
-
(1997)
Pediatr Cardiol
, vol.18
, pp. 143-145
-
-
Adwani, S.S.1
Whitehead, B.F.2
Rees, P.G.3
Morris, A.4
Turnball, D.M.5
Elliot, M.J.6
De Leval, M.R.7
-
3
-
-
0020974404
-
An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leukozytes
-
Barth PG, Scholte HR, Bewrden JA, Van Der Klei-Van Moorsel JM, Luyt-Houwen IEM, Van 'TVeer-Korthof ETh,Van Der Harten JJ, Sobotka-Plojhar MA (1983) An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leukozytes. J Neurol Sci 62:327-355
-
(1983)
J Neurol Sci
, vol.62
, pp. 327-355
-
-
Barth, P.G.1
Scholte, H.R.2
Bewrden, J.A.3
Van Der Klei-Van Moorsel, J.M.4
Luyt-Houwen, I.E.M.5
Van 'Tveer-Korthof, E.Th.6
Van Der Harten, J.J.7
Sobotka-Plojhar, M.A.8
-
4
-
-
0026344373
-
Pediatric heart transplantation at Stanford: Results of a 15-year experience
-
Baum D, Bernstein D, Starnes VA, Oyer P, Pitlick P, Stinson E, Shumway N (1991) Pediatric heart transplantation at Stanford: results of a 15-year experience. Pediatrics 88:203-214
-
(1991)
Pediatrics
, vol.88
, pp. 203-214
-
-
Baum, D.1
Bernstein, D.2
Starnes, V.A.3
Oyer, P.4
Pitlick, P.5
Stinson, E.6
Shumway, N.7
-
5
-
-
0029963145
-
A novel X-linked gene, G4.5 is responsible for Barth syndrome
-
Bione S, DÁdamo 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
Dádamo, P.2
Maestrini, E.3
Gedeon, A.K.4
Bolhuis, P.A.5
Toniolo, D.6
-
6
-
-
0030820393
-
Xq28-linked noncompaction of the left ventricular myocardium: Prenatal diagnosis and pathologic analysis of affected individuals
-
Bleyl SB, Mumford BR, Brown-Harrison M-C, Pagotto LT, Carey JC, Pysher TJ, Ward K, Chin TK (1997) Xq28-linked noncompaction of the left ventricular myocardium: prenatal diagnosis and pathologic analysis of affected individuals. Am J Med Genet 72:257-265
-
(1997)
Am J Med Genet
, vol.72
, pp. 257-265
-
-
Bleyl, S.B.1
Mumford, B.R.2
Brown-Harrison, M.-C.3
Pagotto, L.T.4
Carey, J.C.5
Pysher, T.J.6
Ward, K.7
Chin, T.K.8
-
7
-
-
0030774767
-
Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome
-
Bleyl SB, Mumford BR, Thompson V, Carey JC, Pysher TJ, Chin TK, Ward K (1997) Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome. Am J Hum Genet 61:868-872
-
(1997)
Am J Hum Genet
, vol.61
, pp. 868-872
-
-
Bleyl, S.B.1
Mumford, B.R.2
Thompson, V.3
Carey, J.C.4
Pysher, T.J.5
Chin, T.K.6
Ward, K.7
-
8
-
-
0026019727
-
Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28
-
Bolhuis PA, Hensels GW, Hulsebos TJM, Baas F, Barth PG (1991) Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28. Am J Hum Genet 48:481-485
-
(1991)
Am J Hum Genet
, vol.48
, pp. 481-485
-
-
Bolhuis, P.A.1
Hensels, G.W.2
Hulsebos, T.J.M.3
Baas, F.4
Barth, P.G.5
-
9
-
-
0028334835
-
Barth syndrome: Clinical observations and genetic linkage studies
-
Christodoulou J, Mclnnes RR, Jay V, Wilson G, Becker LE, Lehotay DC, Platt B-A, Bridge PJ, Robinson BH, Clarke JTR (1994) Barth syndrome: clinical observations and genetic linkage studies. Am J Med Genet 50:255-264
-
(1994)
Am J Med Genet
, vol.50
, pp. 255-264
-
-
Christodoulou, J.1
Mclnnes, R.R.2
Jay, V.3
Wilson, G.4
Becker, L.E.5
Lehotay, D.C.6
Platt, B.-A.7
Bridge, P.J.8
Robinson, B.H.9
Clarke, J.T.R.10
-
10
-
-
16944366521
-
The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies
-
DÁdamo P, Fassone L, Gedeon A, Janssen EAM, Bione S, Bolhuis PA, Barth PG, Wilson M, Haan E, Örstavik KH, Patton MA, Green AJ, Zammarchi E, Donati MA, Toniolo D (1997) The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. Am J Hum Genet 61:862-867
-
(1997)
Am J Hum Genet
, vol.61
, pp. 862-867
-
-
Dádamo, P.1
Fassone, L.2
Gedeon, A.3
Janssen, E.A.M.4
Bione, S.5
Bolhuis, P.A.6
Barth, P.G.7
Wilson, M.8
Haan, E.9
Örstavik, K.H.10
Patton, M.A.11
Green, A.J.12
Zammarchi, E.13
Donati, M.A.14
Toniolo, D.15
-
11
-
-
0026562425
-
Cardiomyopathy in infancy: Observations in an epidemiologic study
-
Ferencz C, Neill CA (1992) Cardiomyopathy in infancy: observations in an epidemiologic study. Pediatr Cardiol 13:65-71
-
(1992)
Pediatr Cardiol
, vol.13
, pp. 65-71
-
-
Ferencz, C.1
Neill, C.A.2
-
12
-
-
0029015791
-
X linked fatal cardiomyopathy maps to Xq28 and it possibly allelic to Barth syndrome
-
Gedeon AK, Wilson MJ, Colley AC, Sillence DO, Mulley JC (1995) X linked fatal cardiomyopathy maps to Xq28 and it 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
Sillence, D.O.4
Mulley, J.C.5
-
13
-
-
0023683742
-
Dilated cardiomyopathy with neutropenia, short stature and abnormal carnitine metabolism
-
Ino T, Sherwood WG, Cutz E, Benson LN, Rose V, Freedom RM (1988) Dilated cardiomyopathy with neutropenia, short stature and abnormal carnitine metabolism. J Pediatr 113:511-514
-
(1988)
J Pediatr
, vol.113
, pp. 511-514
-
-
Ino, T.1
Sherwood, W.G.2
Cutz, E.3
Benson, L.N.4
Rose, V.5
Freedom, R.M.6
-
14
-
-
0030728921
-
Mutation characterization and genotypephenotype correlation in Barth syndrome
-
Johnston J, Kelley RI, Feigenbaum A, Cox GF, lyer GS, Funanage VL, Proujansky R (1997) Mutation characterization and genotypephenotype correlation in Barth syndrome. Am J Hum Genet 61:1053-1058
-
(1997)
Am J Hum Genet
, vol.61
, pp. 1053-1058
-
-
Johnston, J.1
Kelley, R.I.2
Feigenbaum, A.3
Cox, G.F.4
Lyer, G.S.5
Funanage, V.L.6
Proujansky, R.7
-
15
-
-
0025951140
-
X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria
-
Kelley RI, Cheatham JP, Clark BJ, Nigro MA, Powell BR, Sherwood GW, Sldky JT, Swisher WP (1991) X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria. J Pediatr 119:738-747
-
(1991)
J Pediatr
, vol.119
, pp. 738-747
-
-
Kelley, R.I.1
Cheatham, J.P.2
Clark, B.J.3
Nigro, M.A.4
Powell, B.R.5
Sherwood, G.W.6
Sldky, J.T.7
Swisher, W.P.8
-
16
-
-
0031911104
-
Genetisch bedingte Kardiomyopathien im Kindes- Und Jugendalter
-
Kreuder J (1998) Genetisch bedingte Kardiomyopathien im Kindes- und Jugendalter. Monatsschr Kinderheilkd 146:158-168 (Teil 1), 257-262 (Teil 2)
-
(1998)
Monatsschr Kinderheilkd
, vol.146
, Issue.1-2
, pp. 158-168
-
-
Kreuder, J.1
-
17
-
-
0030883787
-
The genetics of dilated cardiomyopathy-emerging clues to the puzzle
-
Leiden JM (1997) The genetics of dilated cardiomyopathy-emerging clues to the puzzle. N Engl J Med 337:1080-1081
-
(1997)
N Engl J Med
, vol.337
, pp. 1080-1081
-
-
Leiden, J.M.1
-
19
-
-
0031204998
-
Barth syndrome may be due to an acyltransferase deficiency
-
Neuwald AF (1997) Barth syndrome may be due to an acyltransferase deficiency. Curr Biol 7:R465-466
-
(1997)
Curr Biol
, vol.7
-
-
Neuwald, A.F.1
-
20
-
-
0032231734
-
X-inactivation in carriers of Barth syndrome
-
Örstavik KH, Örstavik RE, Naumova AK, DÁdamo P, Gedeon A, Bolhuis PA, Barth PG, Toniolo D (1998) X-inactivation in carriers of Barth syndrome. Am J Hum Genet 63:1457-1463
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1457-1463
-
-
Örstavik, K.H.1
Örstavik, R.E.2
Naumova, A.K.3
Dádamo, P.4
Gedeon, A.5
Bolhuis, P.A.6
Barth, P.G.7
Toniolo, D.8
-
21
-
-
0030920932
-
Dilatative Kardiomyopathie im Kindesalter
-
Schmaltz AA (1997) Dilatative Kardiomyopathie im Kindesalter. Monatsschr Kinderheilkd 145:218-224
-
(1997)
Monatsschr Kinderheilkd
, vol.145
, pp. 218-224
-
-
Schmaltz, A.A.1
|