-
1
-
-
0029083650
-
Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary artery risk development in (young) adults
-
Maron, B. J. et al. Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary artery risk development in (young) adults. Circulation 92, 785-789 (1995).
-
(1995)
Circulation
, vol.92
, pp. 785-789
-
-
Maron, B.J.1
-
2
-
-
83555165877
-
ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy
-
Gersh, B. J. et al. ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy. Circulation 124, 2761-2796 (2011).
-
(2011)
Circulation
, vol.124
, pp. 2761-2796
-
-
Gersh, B.J.1
-
3
-
-
79953037494
-
Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: A personal history
-
Seidman, C. E. & Seidman, J. G. Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal history. Circ. Res. 108, 743-750 (2011).
-
(2011)
Circ. Res.
, vol.108
, pp. 743-750
-
-
Seidman, C.E.1
Seidman, J.G.2
-
4
-
-
84872055745
-
A paradigm shift in our understanding of the development of the hypertrophic cardiomyopathy phenotype?: Not so fast!
-
Maron, M. S. A paradigm shift in our understanding of the development of the hypertrophic cardiomyopathy phenotype?: not so fast! Circulation 127, 10-12 (2013).
-
(2013)
Circulation
, vol.127
, pp. 10-12
-
-
Maron, M.S.1
-
5
-
-
79955833841
-
Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome
-
Puente, X. S. et al. Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome. Am. J. Hum. Genet. 88, 650-656 (2011).
-
(2011)
Am. J. Hum. Genet.
, vol.88
, pp. 650-656
-
-
Puente, X.S.1
-
6
-
-
84856190300
-
A mutation in the thyroid hormone receptor alpha gene
-
Bochukova, E. et al. A mutation in the thyroid hormone receptor alpha gene. New Engl. J. Med. 366, 243-249 (2012).
-
(2012)
New Engl. J. Med.
, vol.366
, pp. 243-249
-
-
Bochukova, E.1
-
7
-
-
84874664698
-
Calmodulin mutations associated with recurrent cardiac arrest in infants
-
Crotti, L. et al. Calmodulin mutations associated with recurrent cardiac arrest in infants. Circulation 127, 1009-1017 (2013).
-
(2013)
Circulation
, vol.127
, pp. 1009-1017
-
-
Crotti, L.1
-
8
-
-
0032934453
-
Guidelines for the study of familial dilated cardiomyopathies. Collaborative research group of the european human and capital mobility project on familial dilated cardiomyopathy
-
Mestroni, L. et al. Guidelines for the study of familial dilated cardiomyopathies. Collaborative research group of the european human and capital mobility project on familial dilated cardiomyopathy. Eur. Heart. J. 20, 93-102 (1999).
-
(1999)
Eur. Heart. J.
, vol.20
, pp. 93-102
-
-
Mestroni, L.1
-
9
-
-
0242522154
-
American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines
-
Maron, B. J. et al. American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines. J. Am. Coll. Cardiol. 42, 1687-1713 (2003).
-
(2003)
J. Am. Coll. Cardiol.
, vol.42
, pp. 1687-1713
-
-
Maron, B.J.1
-
10
-
-
34147182155
-
Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy
-
Osio, A. et al. Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy. Circ. Res. 100, 766-768 (2007).
-
(2007)
Circ. Res.
, vol.100
, pp. 766-768
-
-
Osio, A.1
-
11
-
-
84871761309
-
Pathogenesis of hypertrophic cardiomyopathy caused by myozenin 2 mutations is independent of calcineurin activity
-
Ruggiero, A., Chen, S. N., Lombardi, R., Rodriguez, G. & Marian, A. J. Pathogenesis of hypertrophic cardiomyopathy caused by myozenin 2 mutations is independent of calcineurin activity. Cardiovasc. Res. 97, 44-54 (2012).
-
(2012)
Cardiovasc. Res.
, vol.97
, pp. 44-54
-
-
Ruggiero, A.1
Chen, S.N.2
Lombardi, R.3
Rodriguez, G.4
Marian, A.J.5
-
12
-
-
22544478749
-
A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy
-
Vorgerd, M. et al. A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. Am. J. Hum. Genet. 77, 297-304 (2005).
-
(2005)
Am. J. Hum. Genet.
, vol.77
, pp. 297-304
-
-
Vorgerd, M.1
-
13
-
-
36749069412
-
Clinical and morphological phenotype of the filamin myopathy: A study of 31 German patients
-
Kley, R. A. et al. Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients. Brain 130, 3250-3264 (2007).
-
(2007)
Brain
, vol.130
, pp. 3250-3264
-
-
Kley, R.A.1
-
14
-
-
77953121676
-
A novel heterozygous deletion-insertion mutation (2695-2712 del/GTTTGT ins) in exon 18 of the filamin C gene causes filaminopathy in a large Chinese family
-
Luan, X., Hong, D., Zhang, W., Wang, Z. & Yuan, Y. A novel heterozygous deletion-insertion mutation (2695-2712 del/GTTTGT ins) in exon 18 of the filamin C gene causes filaminopathy in a large Chinese family. Neuromuscul. Disord. 20, 390-396 (2010).
-
(2010)
Neuromuscul. Disord.
, vol.20
, pp. 390-396
-
-
Luan, X.1
Hong, D.2
Zhang, W.3
Wang, Z.4
Yuan, Y.5
-
15
-
-
67349203570
-
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy
-
Shatunov, A. et al. In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy. Eur. J. Hum. Genet. 17, 656-663 (2009).
-
(2009)
Eur. J. Hum. Genet.
, vol.17
, pp. 656-663
-
-
Shatunov, A.1
-
16
-
-
84872284023
-
Filamin C-related myopathies: Pathology and mechanisms
-
Fürst, D. O. et al. Filamin C-related myopathies: pathology and mechanisms. Acta Neuropathol. 125, 33-46 (2013).
-
(2013)
Acta Neuropathol.
, vol.125
, pp. 33-46
-
-
Fürst, D.O.1
-
17
-
-
4544374719
-
Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1)
-
Meredith, C. et al. Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). Am. J. Hum. Genet. 75, 703-708 (2004).
-
(2004)
Am. J. Hum. Genet.
, vol.75
, pp. 703-708
-
-
Meredith, C.1
-
18
-
-
84856258171
-
Mechanisms of disease: Hypertrophic cardiomyopathy
-
Frey, N., Luedde, M. & Katus, H. A. Mechanisms of disease: hypertrophic cardiomyopathy. Nat. Rev. Cardiol. 9, 91-100 (2012).
-
(2012)
Nat. Rev. Cardiol.
, vol.9
, pp. 91-100
-
-
Frey, N.1
Luedde, M.2
Katus, H.A.3
-
19
-
-
84875175486
-
When lamins go bad: Nuclear structure and disease
-
Schreiber, K. H. & Kennedy, B. K. When lamins go bad: nuclear structure and disease. Cell 152, 1365-1375 (2013).
-
(2013)
Cell
, vol.152
, pp. 1365-1375
-
-
Schreiber, K.H.1
Kennedy, B.K.2
-
20
-
-
84876287607
-
State-of-the-heart of cardiac laminopathies
-
Cattin, M. E., Muchir, A. & Bonne, G. 'State-of-the-heart' of cardiac laminopathies. Curr. Opin. Cardiol. 28, 297-304 (2013).
-
(2013)
Curr. Opin. Cardiol.
, vol.28
, pp. 297-304
-
-
Cattin, M.E.1
Muchir, A.2
Bonne, G.3
-
21
-
-
82755161872
-
Nuclear lamins and laminopathies
-
Worman, H. J. Nuclear lamins and laminopathies. J. Pathol. 226, 316-325 (2012).
-
(2012)
J. Pathol.
, vol.226
, pp. 316-325
-
-
Worman, H.J.1
-
22
-
-
84864004251
-
Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy
-
Friedrich, F. W. et al. Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy. Hum. Mol. Genet. 21, 3237-3254 (2012).
-
(2012)
Hum. Mol. Genet.
, vol.21
, pp. 3237-3254
-
-
Friedrich, F.W.1
-
23
-
-
84892375702
-
Isolated X-linked hypertrophic cardiomyopathy caused by a novel mutation of the four-and-a-half LIM domain 1 gene
-
Hartmannova, H. et al. Isolated X-linked hypertrophic cardiomyopathy caused by a novel mutation of the four-and-a-half LIM domain 1 gene. Circ. Cardiovasc. Genet. 6, 543-551 (2013).
-
(2013)
Circ. Cardiovasc. Genet.
, vol.6
, pp. 543-551
-
-
Hartmannova, H.1
-
24
-
-
33747753150
-
Loss of FilaminC (FLNc) results in severe defects in myogenesis and myotube structure
-
Dalkilic, I., Schienda, J., Thompson, T. G. & Kunkel, L. M. Loss of FilaminC (FLNc) results in severe defects in myogenesis and myotube structure. Mol. Cell Biol. 26, 6522-6534 (2006).
-
(2006)
Mol. Cell Biol.
, vol.26
, pp. 6522-6534
-
-
Dalkilic, I.1
Schienda, J.2
Thompson, T.G.3
Kunkel, L.M.4
-
25
-
-
83055180637
-
Filamin C plays an essential role in the maintenance of the structural integrity of cardiac and skeletal muscles, revealed by the medaka mutant zacro
-
Fujita, M. et al. Filamin C plays an essential role in the maintenance of the structural integrity of cardiac and skeletal muscles, revealed by the medaka mutant zacro. Dev. Biol. 361, 79-89 (2012).
-
(2012)
Dev. Biol.
, vol.361
, pp. 79-89
-
-
Fujita, M.1
-
26
-
-
84899476119
-
Guidelines for investigating causality of sequence variants in human disease
-
MacArthur, D. G. et al. Guidelines for investigating causality of sequence variants in human disease. Nature 508, 469-476 (2014).
-
(2014)
Nature
, vol.508
, pp. 469-476
-
-
Macarthur, D.G.1
-
27
-
-
55549089660
-
Accurate whole human genome sequencing using reversible terminator chemistry
-
Bentley, D. R. et al. Accurate whole human genome sequencing using reversible terminator chemistry. Nature 456, 53-59 (2008).
-
(2008)
Nature
, vol.456
, pp. 53-59
-
-
Bentley, D.R.1
-
28
-
-
67649884743
-
Fast and accurate short read alignment with Burrows-Wheeler transform
-
Li, H. & Durbin, R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25, 1754-1760 (2009).
-
(2009)
Bioinformatics
, vol.25
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
-
29
-
-
68549104404
-
The Sequence Alignment/Map format and SAMtools
-
Li, H. et al. The Sequence Alignment/Map format and SAMtools. Bioinformatics 25, 2078-2079 (2009).
-
(2009)
Bioinformatics
, vol.25
, pp. 2078-2079
-
-
Li, H.1
-
30
-
-
84555171449
-
Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia
-
Quesada, V. et al. Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia. Nat. Genet. 44, 47-52 (2012).
-
(2012)
Nat. Genet.
, vol.44
, pp. 47-52
-
-
Quesada, V.1
-
31
-
-
79960036578
-
Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia
-
Puente, X. S. et al. Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia. Nature 475, 101-105 (2011).
-
(2011)
Nature
, vol.475
, pp. 101-105
-
-
Puente, X.S.1
-
32
-
-
0342499587
-
Strategies for multilocus linkage analysis in humans
-
Lathrop, G. M., Lalouel, J. M., Julier, C. & Ott, J. Strategies for multilocus linkage analysis in humans. Proc. Natl Acad. Sci. USA 81, 3443-3446 (1984).
-
(1984)
Proc. Natl Acad. Sci. USA
, vol.81
, pp. 3443-3446
-
-
Lathrop, G.M.1
Lalouel, J.M.2
Julier, C.3
Ott, J.4
|