-
1
-
-
0027439920
-
Barth syndrome: Clinical features and confirmation of gene localisation to distal Xq28
-
DOI 10.1002/ajmg.1320450309
-
LC Ades AK Gedeon MJ Wilson, et al. 1993 Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28 Am J Med Genet 45 3 327 334 10.1002/ajmg.1320450309 8434619 10.1002/ajmg.1320450309 1:STN:280:DyaK3s7msleitw%3D%3D (Pubitemid 23033148)
-
(1993)
American Journal of Medical Genetics
, vol.45
, Issue.3
, pp. 327-334
-
-
Ades, L.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
-
DOI 10.1007/s002469900135
-
SS Adwani BF Whitehead PG Rees, et al. 1997 Heart transplantation for Barth syndrome Pediatr Cardiol 18 2 143 145 9049131 10.1007/s002469900135 1:STN:280:DyaK2s3gtFOjug%3D%3D (Pubitemid 27104845)
-
(1997)
Pediatric Cardiology
, vol.18
, Issue.2
, pp. 143-145
-
-
Adwani, S.S.1
Whitehead, B.F.2
Rees, P.G.3
Morris, A.4
Turnball, D.M.5
Elliott, M.J.6
De Leval, M.R.7
-
3
-
-
0020974404
-
An X-linked mitochrondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes
-
PG Barth HR Scholte JA Berden, et al. 1983 An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes J Neurol Sci 62 1-3 327 355 6142097 10.1016/0022-510X(83)90209-5 1:STN:280:DyaL2c7jslOitA%3D%3D (Pubitemid 14176259)
-
(1983)
Journal of the Neurological Sciences
, vol.62
, Issue.1-3
, pp. 327-355
-
-
Barth, P.G.1
Scholte, H.R.2
Berden, J.A.3
-
4
-
-
2142765298
-
X-Linked Cardioskeletal Myopathy and Neutropenia (Barth Syndrome): An Update
-
PG Barth F Valianpour VM Bowen, et al. 2004 X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update Am J Med Genet A 126A 4 349 354 10.1002/ajmg.a.20660 15098233 10.1002/ajmg.a.20660 (Pubitemid 38541803)
-
(2004)
American Journal of Medical Genetics
, vol.126 A
, Issue.4
, pp. 349-354
-
-
Barth, P.G.1
Valianpour, F.2
Bowen, V.M.3
Lam, J.4
Duran, M.5
Vaz, F.M.6
Wanders, R.J.A.7
-
5
-
-
0033046823
-
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060)
-
DOI 10.1023/A:1005568609936
-
PG Barth RJ Wanders P Vreken, et al. 1999 X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060) J Inherit Metab Dis 22 4 555 567 10407787 10.1023/A:1005568609936 1:CAS:528:DyaK1MXkslOmtLk%3D (Pubitemid 29281043)
-
(1999)
Journal of Inherited Metabolic Disease
, vol.22
, Issue.4
, pp. 555-567
-
-
Barth, P.G.1
Wanders, R.J.A.2
Vreken, P.3
Janssen, E.A.M.4
Lam, J.5
Baas, F.6
-
6
-
-
0029963145
-
A novel X-linked gene, G4.5. is responsible for Barth syndrome
-
DOI 10.1038/ng0496-385
-
S Bione P D'Adamo E Maestrini, et al. 1996 A novel X-linked gene, G4.5. is responsible for Barth syndrome Nat Genet 12 4 385 389 10.1038/ng0496-385 8630491 10.1038/ng0496-385 1:CAS:528:DyaK28XjtFaju7Y%3D (Pubitemid 26106250)
-
(1996)
Nature Genetics
, vol.12
, Issue.4
, pp. 385-389
-
-
Bione, S.1
D'Adamo, P.2
Maestrini, E.3
Gedeon, A.K.4
Bolhuis, P.A.5
Toniolo, D.6
-
7
-
-
0030774767
-
Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome
-
SB Bleyl BR Mumford V Thompson, et al. 1997 Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome Am J Hum Genet 61 4 868 872 10.1086/514879 9382097 10.1086/514879 1:CAS:528:DyaK2sXmslCns7Y%3D (Pubitemid 27418461)
-
(1997)
American Journal of Human Genetics
, vol.61
, Issue.4
, 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
-
-
0033504031
-
Genetic analysis of the G4.5 gene in families with suspected Barth syndrome
-
AM Cantlay K Shokrollahi JT Allen, et al. 1999 Genetic analysis of the G4.5 gene in families with suspected Barth syndrome J Pediatr 135 3 311 315 10484795 10.1016/S0022-3476(99)70126-5 1:CAS:528:DyaK1MXmsFGmur4%3D (Pubitemid 30180503)
-
(1999)
Journal of Pediatrics
, vol.135
, Issue.3
, pp. 311-315
-
-
Cantlay, A.M.1
Shokrollahi, K.2
Allen, J.T.3
Lunt, P.W.4
Newbury-Ecob, R.A.5
Steward, C.G.6
-
9
-
-
16944366521
-
The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies
-
P D'Adamo L Fassone A Gedeon, et al. 1997 The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies Am J Hum Genet 61 4 862 867 10.1086/514886 9382096 10.1086/514886 (Pubitemid 27418460)
-
(1997)
American Journal of Human Genetics
, vol.61
, Issue.4
, pp. 862-867
-
-
D'Adamo, 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
Orstavik, K.H.10
Patton, M.A.11
Green, A.J.12
Zammarchi, E.13
Donati, M.A.14
Toniolo, D.15
-
10
-
-
0029015791
-
X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome
-
7616547 10.1136/jmg.32.5.383 1:STN:280:DyaK2MzktFKmtw%3D%3D
-
AK Gedeon MJ Wilson AC Colley DO Sillence JC Mulley 1995 X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome J Med Genet 32 5 383 388 7616547 10.1136/jmg.32.5.383 1:STN:280: DyaK2MzktFKmtw%3D%3D
-
(1995)
J Med Genet
, vol.32
, Issue.5
, pp. 383-388
-
-
Gedeon, A.K.1
Wilson, M.J.2
Colley, A.C.3
Sillence, D.O.4
Mulley, J.C.5
-
11
-
-
32644488897
-
Cardiolipin metabolism and Barth Syndrome
-
DOI 10.1016/j.plipres.2005.12.001, PII S0163782705000524
-
KD Hauff GM Hatch 2006 Cardiolipin metabolism and Barth syndrome Prog Lipid Res 45 2 91 101 10.1016/j.plipres.2005.12.001 16442164 10.1016/j.plipres.2005.12.001 1:CAS:528:DC%2BD28XhslyjsrY%3D (Pubitemid 43248730)
-
(2006)
Progress in Lipid Research
, vol.45
, Issue.2
, pp. 91-101
-
-
Hauff, K.D.1
Hatch, G.M.2
-
12
-
-
61849141218
-
Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndrome
-
10.1016/j.ab.2009.01.032 19454236 10.1016/j.ab.2009.01.032 1:CAS:528:DC%2BD1MXjt1Klsr8%3D
-
RH Houtkooper RJ Rodenburg C Thiels, et al. 2009 Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndrome Anal Biochem 387 2 230 237 10.1016/j.ab.2009.01.032 19454236 10.1016/j.ab.2009.01.032 1:CAS:528:DC%2BD1MXjt1Klsr8%3D
-
(2009)
Anal Biochem
, vol.387
, Issue.2
, pp. 230-237
-
-
Houtkooper, R.H.1
Rodenburg, R.J.2
Thiels, C.3
-
13
-
-
0035814967
-
Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome
-
F Ichida S Tsubata KR Bowles, et al. 2001 Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome Circulation 103 9 1256 1263 11238270 1:CAS:528:DC%2BD3MXisFeksLY%3D (Pubitemid 32221349)
-
(2001)
Circulation
, vol.103
, Issue.9
, pp. 1256-1263
-
-
Ichida, F.1
Tsubata, S.2
Bowles, K.R.3
Haneda, N.4
Uese, K.5
Miyawaki, T.6
Dreyer, W.J.7
Messina, J.8
Li, H.9
Bowles, N.E.10
Towbin, J.A.11
-
14
-
-
0030728921
-
Mutation characterization and genotype, phenotype correlation in Barth syndrome
-
DOI 10.1086/301604
-
J Johnston RI Kelley A Feigenbaum, et al. 1997 Mutation characterization and genotype-phenotype correlation in Barth syndrome Am J Hum Genet 61 5 1053 1058 10.1086/301604 9345098 10.1086/301604 1:CAS:528:DyaK2sXns1yjuro%3D (Pubitemid 27492312)
-
(1997)
American Journal of Human Genetics
, vol.61
, Issue.5
, pp. 1053-1058
-
-
Johnston, J.1
Kelley, R.I.2
Feigenbaum, A.3
Cox, G.F.4
Iyer, G.S.5
Funanage, V.L.6
Proujansky, R.7
-
15
-
-
0025951140
-
X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria
-
1719174 10.1016/S0022-3476(05)80289-6 1:STN:280:DyaK38%2FksFWmsQ%3D%3D
-
RI Kelley JP Cheatham BJ Clark, et al. 1991 X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria J Pediatr 119 5 738 747 1719174 10.1016/S0022-3476(05)80289-6 1:STN:280:DyaK38%2FksFWmsQ%3D%3D
-
(1991)
J Pediatr
, vol.119
, Issue.5
, pp. 738-747
-
-
Kelley, R.I.1
Cheatham, J.P.2
Clark, B.J.3
-
16
-
-
39749099290
-
Bloodspot assay using HPLC-tandem mass spectrometry for detection of barth syndrome
-
DOI 10.1373/clinchem.2007.095711
-
W Kulik H van Lenthe FS Stet, et al. 2008 Bloodspot assay using HPLC-tandem mass spectrometry for detection of Barth syndrome Clin Chem 54 2 371 378 10.1373/clinchem.2007.095711 18070816 10.1373/clinchem.2007.095711 1:CAS:528:DC%2BD1cXhs1Cmu7Y%3D (Pubitemid 351302627)
-
(2008)
Clinical Chemistry
, vol.54
, Issue.2
, pp. 371-378
-
-
Kulik, W.1
Van Lenthe, H.2
Stet, F.S.3
Houtkooper, R.H.4
Kemp, H.5
Stone, J.E.6
Steward, C.G.7
Wanders, R.J.8
Vaz, F.M.9
-
17
-
-
79551556061
-
Lipid storage myopathy
-
10.1007/s11910-010-0154-y 21046290 10.1007/s11910-010-0154-y 1:CAS:528:DC%2BC3MXjtVSgsg%3D%3D
-
WC Liang I Nishino 2011 Lipid storage myopathy Curr Neurol Neurosci Rep 11 1 97 103 10.1007/s11910-010-0154-y 21046290 10.1007/s11910-010-0154-y 1:CAS:528:DC%2BC3MXjtVSgsg%3D%3D
-
(2011)
Curr Neurol Neurosci Rep
, vol.11
, Issue.1
, pp. 97-103
-
-
Liang, W.C.1
Nishino, I.2
-
18
-
-
0031204998
-
Barth syndrome may be due to an acyltransferase deficiency
-
9259571 10.1016/S0960-9822(06)00237-5 1:CAS:528:DyaK2sXlt12ktrc%3D
-
AF Neuwald 1997 Barth syndrome may be due to an acyltransferase deficiency Curr Biol 7 8 R465 R466 9259571 10.1016/S0960-9822(06)00237-5 1:CAS:528:DyaK2sXlt12ktrc%3D
-
(1997)
Curr Biol
, vol.7
, Issue.8
-
-
Neuwald, A.F.1
-
19
-
-
0344010615
-
Phospholipid abnormalities in children with barth syndrome
-
DOI 10.1016/j.jacc.2003.06.015
-
M Schlame RI Kelley A Feigenbaum, et al. 2003 Phospholipid abnormalities in children with Barth syndrome J Am Coll Cardiol 42 11 1994 1999 14662265 10.1016/j.jacc.2003.06.015 1:CAS:528:DC%2BD2cXjt1Wktg%3D%3D (Pubitemid 37485578)
-
(2003)
Journal of the American College of Cardiology
, vol.42
, Issue.11
, pp. 1994-1999
-
-
Schlame, M.1
Kelley, R.I.2
Feigenbaum, A.3
Towbin, J.A.4
Heerdt, P.M.5
Schieble, T.6
Wanders, R.J.A.7
DiMauro, S.8
Blanck, T.J.J.9
-
20
-
-
0036228186
-
Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome
-
DOI 10.1002/ana.10176
-
M Schlame JA Towbin PM Heerdt, et al. 2002 Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome Ann Neurol 51 5 634 637 10.1002/ana.10176 12112112 10.1002/ana.10176 1:CAS:528:DC%2BD38XjvFGhs7s%3D (Pubitemid 34438705)
-
(2002)
Annals of Neurology
, vol.51
, Issue.5
, pp. 634-637
-
-
Kim, J.Y.1
Hwang, J.-M.2
Park, S.S.3
-
21
-
-
33748424435
-
Cardiac and clinical phenotype in Barth syndrome
-
DOI 10.1542/peds.2005-2667
-
CT Spencer RM Bryant J Day, et al. 2006 Cardiac and clinical phenotype in Barth syndrome Pediatrics 118 2 e337 e346 10.1542/peds.2005-2667 16847078 10.1542/peds.2005-2667 (Pubitemid 46090506)
-
(2006)
Pediatrics
, vol.118
, Issue.2
-
-
Spencer, C.T.1
Bryant, R.M.2
Day, J.3
Gonzalez, I.L.4
Colan, S.D.5
Thompson, W.R.6
Berthy, J.7
Redfearn, S.P.8
Byrne, B.J.9
-
22
-
-
29544442308
-
Ventricular arrhythmia in the X-linked cardiomyopathy Barth syndrome
-
DOI 10.1007/s00246-005-0873-z
-
CT Spencer BJ Byrne MH Gewitz, et al. 2005 Ventricular arrhythmia in the X-linked cardiomyopathy Barth syndrome Pediatr Cardiol 26 5 632 637 10.1007/s00246-005-0873-z 16235007 10.1007/s00246-005-0873-z 1:STN:280:DC%2BD2MnovFynsg%3D%3D (Pubitemid 43015800)
-
(2005)
Pediatric Cardiology
, vol.26
, Issue.5
, pp. 632-637
-
-
Spencer, C.T.1
Byrne, B.J.2
Gewitz, M.H.3
Wechsler, S.B.4
Kao, A.C.5
Gerstenfeld, E.P.6
Merliss, A.D.7
Carboni, M.P.8
Bryant, R.M.9
-
23
-
-
0142089726
-
Molecular basis and therapy of disorders associated with chronic neutropenia
-
SM Stein DC Dale 2003 Molecular basis and therapy of disorders associated with chronic neutropenia Curr Allergy Asthma Rep 3 5 385 388 12906773 10.1007/s11882-003-0071-0 (Pubitemid 38899104)
-
(2003)
Current Allergy and Asthma Reports
, vol.3
, Issue.5
, pp. 385-388
-
-
Stein, S.M.1
Dale, D.C.2
-
24
-
-
77957344279
-
Barth syndrome: An X-linked cause of fetal cardiomyopathy and stillbirth
-
10.1002/pd.2599 20812380 10.1002/pd.2599 1:STN:280:DC%2BC3cfls1antA%3D%3D
-
CG Steward RA Newbury-Ecob R Hastings, et al. 2010 Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth Prenat Diagn 30 10 970 976 10.1002/pd.2599 20812380 10.1002/pd.2599 1:STN:280:DC%2BC3cfls1antA%3D%3D
-
(2010)
Prenat Diagn
, vol.30
, Issue.10
, pp. 970-976
-
-
Steward, C.G.1
Newbury-Ecob, R.A.2
Hastings, R.3
|