-
1
-
-
43449131242
-
Genetic factors in congenital heart malformation
-
Andelfinger G. 2008. Genetic factors in congenital heart malformation. Clin Genet 73:516-527.
-
(2008)
Clin Genet
, vol.73
, pp. 516-527
-
-
Andelfinger, G.1
-
2
-
-
0016770570
-
Retrospective and prospective epidemiological studies of 1500 karyotyped spontaneoushumanabortions
-
Boué J, Bou A, Lazar P. 1975. Retrospective and prospective epidemiological studies of 1500 karyotyped spontaneoushumanabortions. Teratology 12:11-26.
-
(1975)
Teratology
, vol.12
, pp. 11-26
-
-
Boué, J.1
Bou, A.2
Lazar, P.3
-
3
-
-
0034734638
-
Outcome after prenatal diagnosis of hypoplastic left-heart syndrome: A case series
-
Brackley KJ, Kilby MD, Wright JG, Brawn WJ, Sethia B, Stumper O, Holder R, Wyldes MP, Whittle MJ. 2000. Outcome after prenatal diagnosis of hypoplastic left-heart syndrome: A case series. Lancet 356:1143-1147.
-
(2000)
Lancet
, vol.356
, pp. 1143-1147
-
-
Brackley, K.J.1
Kilby, M.D.2
Wright, J.G.3
Brawn, W.J.4
Sethia, B.5
Stumper, O.6
Holder, R.7
Wyldes, M.P.8
Whittle, M.J.9
-
5
-
-
34248324845
-
Increased ventricular preload is compensated by myocyte proliferation in normal and hypoplastic fetal chick left ventricle
-
deAlmeida A, McQuinn T, Sedmera D. 2007. Increased ventricular preload is compensated by myocyte proliferation in normal and hypoplastic fetal chick left ventricle. Circ Res 100:1363-1370.
-
(2007)
Circ Res
, vol.100
, pp. 1363-1370
-
-
DeAlmeida, A.1
McQuinn, T.2
Sedmera, D.3
-
6
-
-
62149117229
-
Investigation of somatic NKX 2-5 mutations in congenital heart disease
-
Draus JM Jr, Hauck MA, Goetsch M, Austin EH III, Tomita-Mitchell A, Mitchell ME. 2009. Investigation of somatic NKX 2-5 mutations in congenital heart disease. J Med Genet 46:115-122.
-
(2009)
J Med Genet
, vol.46
, pp. 115-122
-
-
Draus Jr., J.M.1
Hauck, M.A.2
Goetsch, M.3
Austin III, E.H.4
Tomita-Mitchell, A.5
Mitchell, M.E.6
-
7
-
-
0037975739
-
Cardiac homeobox gene NKX 2-5 mutations and congenital heart disease: Associations with atrial septal defect and hypoplastic left heart syndrome
-
Elliott DA, Kirk EP, Yeoh T, Chandar S, McKenzie F, Taylor P, Grossfeld P, Fatkin D, Jones O, Hayes P, Feneley M, Harvey RP. 2003. Cardiac homeobox gene NKX 2-5 mutations and congenital heart disease: Associations with atrial septal defect and hypoplastic left heart syndrome. J Am Coll Cardiol 41:2072-2076.
-
(2003)
J Am Coll Cardiol
, vol.41
, pp. 2072-2076
-
-
Elliott, D.A.1
Kirk, E.P.2
Yeoh, T.3
Chandar, S.4
McKenzie, F.5
Taylor, P.6
Grossfeld, P.7
Fatkin, D.8
Jones, O.9
Hayes, P.10
Feneley, M.11
Harvey, R.P.12
-
8
-
-
0003939407
-
The consequences of chromosome imbalance. Principles, mechanisms and models
-
New York: Cambridge University Press
-
Epstein CJ. 1986. The consequences of chromosome imbalance. Principles, mechanisms and models. Developmental and cell biology monographs n. 18. New York: Cambridge University Press.
-
(1986)
Developmental and Cell Biology Monographs
, Issue.18
-
-
Epstein, C.J.1
-
9
-
-
44949184562
-
Transcription repression and blocks in cell cycle progression in hypoplastic left heart syndrome
-
Gambetta K, Al-Ahdab MK, Ilbawi MN, Hassaniya N, Gupta M. 2008. Transcription repression and blocks in cell cycle progression in hypoplastic left heart syndrome. Am J Physiol Heart Circ Physiol 294:H2268-H2275.
-
(2008)
Am J Physiol Heart Circ Physiol
, vol.294
-
-
Gambetta, K.1
Al-Ahdab, M.K.2
Ilbawi, M.N.3
Hassaniya, N.4
Gupta, M.5
-
10
-
-
0028081732
-
Prevalence of cardiovascular malformations and association with karyotypes in Turner's syndrome
-
Gøtzsche CO, Krag-Olsen B, Nielsen J, Sørensen KE, Kristensen BO. 1994. Prevalence of cardiovascular malformations and association with karyotypes in Turner's syndrome. Arch Dis Child 71:433-436.
-
(1994)
Arch Dis Child
, vol.71
, pp. 433-436
-
-
Gøtzsche, C.O.1
Krag-Olsen, B.2
Nielsen, J.3
Sørensen, K.E.4
Kristensen, B.O.5
-
11
-
-
0033220507
-
The genetics of hypoplastic left heart syndrome
-
Grossfeld PD. 1999. The genetics of hypoplastic left heart syndrome. Cardiol Young 9:627-663.
-
(1999)
Cardiol Young
, vol.9
, pp. 627-663
-
-
Grossfeld, P.D.1
-
12
-
-
34948904868
-
Hypoplastic left heart syndrome: It is all in the genes
-
Grossfeld PD. 2007. Hypoplastic left heart syndrome: It is all in the genes. J Am Coll Cardiol 50:1596-1597.
-
(2007)
J Am Coll Cardiol
, vol.50
, pp. 1596-1597
-
-
Grossfeld, P.D.1
-
13
-
-
61949118367
-
Hypoplastic left heart syndrome: New genetic insights
-
Grossfeld P, Ye M, Harvey R. 2009. Hypoplastic left heart syndrome: New genetic insights. J Am Coll Cardiol 53:1072-1074.
-
(2009)
J Am Coll Cardiol
, vol.53
, pp. 1072-1074
-
-
Grossfeld, P.1
Ye, M.2
Harvey, R.3
-
14
-
-
0033304838
-
Growth retardation in Turner syndrome: Aneuploidy, rather than specific gene loss, may explain growth failure
-
Haverkamp F, Wolfle J, Zerres K, Butebandt O, Amendt P, Hauffa BP, Weimann E, Bettendorf M, Keller E, Mühlenberg R, Partsch CJ, Sippel WG, Hoppe C. 1999. Growth retardation in Turner syndrome: Aneuploidy, rather than specific gene loss, may explain growth failure. J Clin Endocrinol Metab 84:4578-4582.
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 4578-4582
-
-
Haverkamp, F.1
Wolfle, J.2
Zerres, K.3
Butebandt, O.4
Amendt, P.5
Hauffa, B.P.6
Weimann, E.7
Bettendorf, M.8
Keller, E.9
Mühlenberg, R.10
Partsch, C.J.11
Sippel, W.G.12
Hoppe, C.13
-
15
-
-
0001138182
-
Functional maturation and coupling of the embryonic cardiovascular system
-
Clark EB, Markwald RR, Takao A, eds. Mt. Kisco, NY: Futura Publishing Co.
-
Keller B. 1995. Functional maturation and coupling of the embryonic cardiovascular system. In: Clark EB, Markwald RR, Takao A, eds. Developmental mechanisms of heart disease. Mt. Kisco, NY: Futura Publishing Co. p 367-396.
-
(1995)
Developmental Mechanisms of Heart Disease
, pp. 367-396
-
-
Keller, B.1
-
16
-
-
20344407332
-
Association between fetal lymphedema and congenital cardiovascular defects in Turner syndrome
-
Loscalzo ML, Van PL, Ho VB, Bakalov VK, Rosing DR, Malone CA, Dietz HC, Bondy CA. 2005. Association between fetal lymphedema and congenital cardiovascular defects in Turner syndrome. Pediatrics 115:732-735.
-
(2005)
Pediatrics
, vol.115
, pp. 732-735
-
-
Loscalzo, M.L.1
Van, P.L.2
Ho, V.B.3
Bakalov, V.K.4
Rosing, D.R.5
Malone, C.A.6
Dietz, H.C.7
Bondy, C.A.8
-
17
-
-
2342518098
-
The clonal origin of myocardial cells in different regions of the embryonic mouse heart
-
Meilhac SM, Esner M, Kelly RG, Nicolas JF, Buckingham ME. 2004. The clonal origin of myocardial cells in different regions of the embryonic mouse heart. Dev Cell 6:685-698.
-
(2004)
Dev Cell
, vol.6
, pp. 685-698
-
-
Meilhac, S.M.1
Esner, M.2
Kelly, R.G.3
Nicolas, J.F.4
Buckingham, M.E.5
-
19
-
-
0025356559
-
Hypoplastic left heart syndrome: Natural history in a geographically defined population
-
Morris CD, Outcalt J, Menashe VD. 1990. Hypoplastic left heart syndrome: Natural history in a geographically defined population. Pediatrics 85:977-983.
-
(1990)
Pediatrics
, vol.85
, pp. 977-983
-
-
Morris, C.D.1
Outcalt, J.2
Menashe, V.D.3
-
20
-
-
33749361499
-
Gene regulatory networks in the evolution and development of the heart
-
Olson EN. 2006. Gene regulatory networks in the evolution and development of the heart Science 313:1922-1927.
-
(2006)
Science
, vol.313
, pp. 1922-1927
-
-
Olson, E.N.1
-
21
-
-
7244238119
-
TBX5 mutations in non-Holt - Oram syndrome (HOS) malformed hearts
-
Reamon-Buettner SM, Borlak J. 2004.TBX5 mutations in non-Holt - Oram syndrome (HOS) malformed hearts. Hum Mutat 24:104.
-
(2004)
Hum Mutat
, vol.24
, pp. 104
-
-
Reamon-Buettner, S.M.1
Borlak, J.2
-
22
-
-
26444441866
-
GATA4 zinc finger mutations as a molecular rationale for septation defects of the human heart
-
Reamon-Buettner SM, Borlak J. 2005. GATA4 zinc finger mutations as a molecular rationale for septation defects of the human heart. J Med Genet 42:e32.
-
(2005)
J Med Genet
, vol.42
-
-
Reamon-Buettner, S.M.1
Borlak, J.2
-
23
-
-
34250718089
-
Somatic mutations in cardiac malformations
-
Reamon-Buettner SM, Borlak J. 2006a. Somatic mutations in cardiac malformations. J Med Genet 43:45.
-
(2006)
J Med Genet
, vol.43
, pp. 45
-
-
Reamon-Buettner, S.M.1
Borlak, J.2
-
25
-
-
2442705544
-
Novel NKX 2-5 mutations in diseased heart tissues of patients with cardiac malformations
-
Reamon-Buettner SM, Hecker H, Spanel-Borowski K, Craatz S, Kuenzel E, Borlak J. 2004. Novel NKX 2-5 mutations in diseased heart tissues of patients with cardiac malformations. Am J Pathol 164:2117-2125.
-
(2004)
Am J Pathol
, vol.164
, pp. 2117-2125
-
-
Reamon-Buettner, S.M.1
Hecker, H.2
Spanel-Borowski, K.3
Craatz, S.4
Kuenzel, E.5
Borlak, J.6
-
26
-
-
34547137690
-
Mutations in the 3′-untranslated region of GATA4 as molecular hotspots for congenital heart disease (CHD)
-
Reamon-Buettner SM, Cho SH, Borlak J. 2007. Mutations in the 3′-untranslated region of GATA4 as molecular hotspots for congenital heart disease (CHD). BMC Med Genet 8:38.
-
(2007)
BMC Med Genet
, vol.8
, pp. 38
-
-
Reamon-Buettner, S.M.1
Cho, S.H.2
Borlak, J.3
-
27
-
-
43049105408
-
Aloss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts
-
Reamon-Buettner SM, Ciribilli Y, Inga A, Borlak J. 2008.Aloss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts. Hum Mol Genet 17:1397-1405.
-
(2008)
Hum Mol Genet
, vol.17
, pp. 1397-1405
-
-
Reamon-Buettner, S.M.1
Ciribilli, Y.2
Inga, A.3
Borlak, J.4
-
28
-
-
70350757745
-
A functional genetic study identifies HAND1 mutations in septation defects of the human heart
-
Reamon-Buettner SM, Ciribilli Y, Traverso I, Kuhls B, Inga A, Borlak J. 2009. A functional genetic study identifies HAND1 mutations in septation defects of the human heart. Hum Mol Genet 18:3567-3578.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 3567-3578
-
-
Reamon-Buettner, S.M.1
Ciribilli, Y.2
Traverso, I.3
Kuhls, B.4
Inga, A.5
Borlak, J.6
-
29
-
-
0033754633
-
Diagnostic utility of fluorescence in situ hybridization in mantle-cell lymphoma
-
Remstein ED, Kurtin PJ, Buño I, Bailey RJ, Proffitt J, Wyatt WA, Hanson CA, Dewald GW. 2000. Diagnostic utility of fluorescence in situ hybridization in mantle-cell lymphoma. Br J Haematol 100:856-862.
-
(2000)
Br J Haematol
, vol.100
, pp. 856-862
-
-
Remstein, E.D.1
Kurtin, P.J.2
Buño, I.3
Bailey, R.J.4
Proffitt, J.5
Wyatt, W.A.6
Hanson, C.A.7
Dewald, G.W.8
-
32
-
-
33746091679
-
The nomenclature, definition and classification of hypoplastic left heart syndrome
-
Tchervenkov CI, Jacobs JP, Weinberg PM, Aiello VD, Béland MJ, Colan SD, Elliott MJ, Franklin RC, Gaynor JW, Krogmann ON, Kurosawa H, Maruszewski B, Stellin G. 2006. The nomenclature, definition and classification of hypoplastic left heart syndrome. Cardiol Young 16:339-368.
-
(2006)
Cardiol Young
, vol.16
, pp. 339-368
-
-
Tchervenkov, C.I.1
Jacobs, J.P.2
Weinberg, P.M.3
Aiello, V.D.4
Béland, M.J.5
Colan, S.D.6
Elliott, M.J.7
Franklin, R.C.8
Gaynor, J.W.9
Krogmann, O.N.10
Kurosawa, H.11
Maruszewski, B.12
Stellin, G.13
-
33
-
-
0023898583
-
Hypoplastic left heart syndrome and 45, X karyotype
-
Van Egmond H, Orye E, Praet M, Coppens M, Devloo-Blancquaert A. 1988. Hypoplastic left heart syndrome and 45, X karyotype. Br Heart J 60:69-71.
-
(1988)
Br Heart J
, vol.60
, pp. 69-71
-
-
Van Egmond, H.1
Orye, E.2
Praet, M.3
Coppens, M.4
Devloo-Blancquaert, A.5
-
34
-
-
67649890838
-
Deletion of JAM-C, a candidate gene for heart defects in Jacobsen syndrome, results in a normal cardiac phenotype in mice
-
Ye M, Hamzeh R, Geddis A, Varki N, Perryman MB, Grossfeld P. 2009. Deletion of JAM-C, a candidate gene for heart defects in Jacobsen syndrome, results in a normal cardiac phenotype in mice. Am J Med Genet Part A 149A:1438-1443.
-
(2009)
Am J Med Genet Part A
, vol.149 A
, pp. 1438-1443
-
-
Ye, M.1
Hamzeh, R.2
Geddis, A.3
Varki, N.4
Perryman, M.B.5
Grossfeld, P.6
-
35
-
-
37049012350
-
Aneuploidy and confined chromosomal mosaicism in the developing human brain
-
Yurov YB, Iourov IY, Vorsanova SG, Liehr T, Kolotii AD, Kutsev SI, Pellestor F, Beresheva AK, Demidova IA, Kravets VS, Monakhov VV, Soloviev IV. 2007. Aneuploidy and confined chromosomal mosaicism in the developing human brain. PloS One 2:e558.
-
(2007)
PloS One
, vol.2
-
-
Yurov, Y.B.1
Iourov, I.Y.2
Vorsanova, S.G.3
Liehr, T.4
Kolotii, A.D.5
Kutsev, S.I.6
Pellestor, F.7
Beresheva, A.K.8
Demidova, I.A.9
Kravets, V.S.10
Monakhov, V.V.11
Soloviev, I.V.12
|