-
1
-
-
0037134945
-
The incidence of congenital heart disease
-
Hoffman JI, Kaplan S 2002 The incidence of congenital heart disease. J Am Coll Cardiol 39:1890-1900
-
(2002)
J Am Coll Cardiol
, vol.39
, pp. 1890-1900
-
-
Hoffman, J.I.1
Kaplan, S.2
-
2
-
-
0035316293
-
Task force 1: The changing profile of congenital heart disease in adult life
-
Warnes CA, Liberthson R, Danielson GK, Dore A, Harris L, Hoffman JI, Somerville J, Williams RG, Webb GD 2001 Task force 1: the changing profile of congenital heart disease in adult life. J Am Coll Cardiol 37:1170-1175
-
(2001)
J Am Coll Cardiol
, vol.37
, pp. 1170-1175
-
-
Warnes, C.A.1
Liberthson, R.2
Danielson, G.K.3
Dore, A.4
Harris, L.5
Hoffman, J.I.6
Somerville, J.7
Williams, R.G.8
Webb, G.D.9
-
3
-
-
10044237833
-
Adult congenital heart disease: A cardiovascular area of growth in urgent need of additional resource allocation
-
Gatzoulis MA 2004 Adult congenital heart disease: a cardiovascular area of growth in urgent need of additional resource allocation. Int J Cardiol 97:1-2
-
(2004)
Int J Cardiol
, vol.97
, pp. 1-2
-
-
Gatzoulis, M.A.1
-
4
-
-
0027154167
-
Causes of congenital heart diseases: Old and new modes, mechanisms, and models
-
Nora JJ 1993 Causes of congenital heart diseases: old and new modes, mechanisms, and models. Am Heart J 125:1409-1419
-
(1993)
Am Heart J
, vol.125
, pp. 1409-1419
-
-
Nora, J.J.1
-
5
-
-
17444421244
-
Evaluation of the cardiovascular system
-
Behrman RE, Kliegman RM, Jenson HB eds, 17th ed. Philadelphia: Saunders, pp
-
Bernstein D 2004 Evaluation of the cardiovascular system. In: Behrman RE, Kliegman RM, Jenson HB (eds) Nelson Textbook of Pediatrics. 17th ed. Philadelphia: Saunders, pp 1481-1488
-
(2004)
Nelson Textbook of Pediatrics
, pp. 1481-1488
-
-
Bernstein, D.1
-
6
-
-
1642357594
-
Genetic basis of congenital heart disease
-
Gelb BD 2004 Genetic basis of congenital heart disease. Curr Opin Cardiol 19:110-115
-
(2004)
Curr Opin Cardiol
, vol.19
, pp. 110-115
-
-
Gelb, B.D.1
-
7
-
-
9244261087
-
The genetic contribution to congenital heart disease
-
Goldmuntz E 2004 The genetic contribution to congenital heart disease. Pediatr Clin North Am 51:1721-1737
-
(2004)
Pediatr Clin North Am
, vol.51
, pp. 1721-1737
-
-
Goldmuntz, E.1
-
8
-
-
33847345155
-
The genetics of cardiac birth defects
-
Ransom J, Srivastava D 2007 The genetics of cardiac birth defects. Semin Cell Dev Biol 18:132-139
-
(2007)
Semin Cell Dev Biol
, vol.18
, pp. 132-139
-
-
Ransom, J.1
Srivastava, D.2
-
9
-
-
0036788341
-
Human cytogenetics: 46 chromosomes, 46 years and counting
-
Trask BJ 2002 Human cytogenetics: 46 chromosomes, 46 years and counting. Nat Rev Genet 3:769-778
-
(2002)
Nat Rev Genet
, vol.3
, pp. 769-778
-
-
Trask, B.J.1
-
10
-
-
0026495364
-
Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors
-
Kallioniemi A, Kallioniemi OP, Sudar D, Rutovitz D, Gray JW, Waldman F, Pinkel D 1992 Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science 258:818-821
-
(1992)
Science
, vol.258
, pp. 818-821
-
-
Kallioniemi, A.1
Kallioniemi, O.P.2
Sudar, D.3
Rutovitz, D.4
Gray, J.W.5
Waldman, F.6
Pinkel, D.7
-
11
-
-
0027537408
-
Detection of complete and partial chromosome gains and losses by comparative genomic in situ hybridization
-
du Manoir S, Speicher MR, Joos S, Schrock E, Popp S, Dohner H, Kovacs G, Robert-Nicoud M, Lichter P, Cremer T 1993 Detection of complete and partial chromosome gains and losses by comparative genomic in situ hybridization. Hum Genet 90:590-610
-
(1993)
Hum Genet
, vol.90
, pp. 590-610
-
-
du Manoir, S.1
Speicher, M.R.2
Joos, S.3
Schrock, E.4
Popp, S.5
Dohner, H.6
Kovacs, G.7
Robert-Nicoud, M.8
Lichter, P.9
Cremer, T.10
-
12
-
-
34250735539
-
Copy number variation in the human genome and its implications for cardiovascular disease
-
Pollex RL, Hegele RA 2007 Copy number variation in the human genome and its implications for cardiovascular disease. Circulation 115:3130-3138
-
(2007)
Circulation
, vol.115
, pp. 3130-3138
-
-
Pollex, R.L.1
Hegele, R.A.2
-
13
-
-
11144356173
-
Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features
-
Shaw-Smith C, Redon R, Rickman L, Rio M, Willatt L, Fiegler H, Firth H, Sanlaville D, Winter R, Colleaux L, Bobrow M, Carter NP 2004 Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J Med Genet 41:241-248
-
(2004)
J Med Genet
, vol.41
, pp. 241-248
-
-
Shaw-Smith, C.1
Redon, R.2
Rickman, L.3
Rio, M.4
Willatt, L.5
Fiegler, H.6
Firth, H.7
Sanlaville, D.8
Winter, R.9
Colleaux, L.10
Bobrow, M.11
Carter, N.P.12
-
14
-
-
33747054494
-
Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: A new series of 140 patients and review of published reports
-
Menten B, Maas N, Thienpont B, Buysse K, Vandesompele J, Melotte C, de Ravel T, Van Vooren S, Balikova I, Backx L, Janssens S, De Paepe A, De Moor B, Moreau Y, Marynen P, Fryns JP, Mortier G, Devriendt K, Speleman F, Vermeesch JR 2006 Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports. J Med Genet 43:625-633
-
(2006)
J Med Genet
, vol.43
, pp. 625-633
-
-
Menten, B.1
Maas, N.2
Thienpont, B.3
Buysse, K.4
Vandesompele, J.5
Melotte, C.6
de Ravel, T.7
Van Vooren, S.8
Balikova, I.9
Backx, L.10
Janssens, S.11
De Paepe, A.12
De Moor, B.13
Moreau, Y.14
Marynen, P.15
Fryns, J.P.16
Mortier, G.17
Devriendt, K.18
Speleman, F.19
Vermeesch, J.R.20
more..
-
15
-
-
34247481814
-
Strong association of de novo copy number mutations with autism
-
Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T, Yamrom B, Yamrom B, Yoon S, Krasnitz A, Kendall J, Leotta A, Pai D, Zhang R, Lee YH, Hicks J, Spence SJ, Lee AT, Puura K, Lehtimaki I, Ledbetter D, Gregersen PK, Bregman J, Sutcliffe JS, Jobanputra V, Chung W, Warburton D, King MC, Skuse D, Geschwind DH, Gilliam TC, Ye K, Wigler M 2007 Strong association of de novo copy number mutations with autism. Science 316:445-449
-
(2007)
Science
, vol.316
, pp. 445-449
-
-
Sebat, J.1
Lakshmi, B.2
Malhotra, D.3
Troge, J.4
Lese-Martin, C.5
Walsh, T.6
Yamrom, B.7
Yamrom, B.8
Yoon, S.9
Krasnitz, A.10
Kendall, J.11
Leotta, A.12
Pai, D.13
Zhang, R.14
Lee, Y.H.15
Hicks, J.16
Spence, S.J.17
Lee, A.T.18
Puura, K.19
Lehtimaki, I.20
Ledbetter, D.21
Gregersen, P.K.22
Bregman, J.23
Sutcliffe, J.S.24
Jobanputra, V.25
Chung, W.26
Warburton, D.27
King, M.C.28
Skuse, D.29
Geschwind, D.H.30
Gilliam, T.C.31
Ye, K.32
Wigler, M.33
more..
-
16
-
-
34147104969
-
A faster circular binary segmentation algorithm for the analysis of array CGH data
-
Venkatraman ES, Olshen AB 2007 A faster circular binary segmentation algorithm for the analysis of array CGH data. Bioinformatics 23:657-663
-
(2007)
Bioinformatics
, vol.23
, pp. 657-663
-
-
Venkatraman, E.S.1
Olshen, A.B.2
-
18
-
-
33745226965
-
Subtelomere FISH analysis of 11688 cases: An evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities
-
Ravnan JB, Tepperberg P, Papenhausen P, Lamb AN, Hedrick J, Eash D, Ledbetter DH, Martin CL 2006 Subtelomere FISH analysis of 11688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. J Med Genet 43:478-489
-
(2006)
J Med Genet
, vol.43
, pp. 478-489
-
-
Ravnan, J.B.1
Tepperberg, P.2
Papenhausen, P.3
Lamb, A.N.4
Hedrick, J.5
Eash, D.6
Ledbetter, D.H.7
Martin, C.L.8
-
19
-
-
0035871944
-
Chromosome 2q duplications: Case report of a de novo interstitial duplication and review of the literature
-
Bird LM, Mascarello JT 2001 Chromosome 2q duplications: case report of a de novo interstitial duplication and review of the literature. Am J Med Genet 100:13-24
-
(2001)
Am J Med Genet
, vol.100
, pp. 13-24
-
-
Bird, L.M.1
Mascarello, J.T.2
-
20
-
-
15744373771
-
Partial trisomy 2q: Report of a patient with dup (2)(q33.1q35)
-
Sebold CD, Romie S, Szymanska J, Torres-Martinez W, Thurston V, Muesing C, Vance GH 2005 Partial trisomy 2q: report of a patient with dup (2)(q33.1q35). Am J Med Genet A 134:80-83
-
(2005)
Am J Med Genet A
, vol.134
, pp. 80-83
-
-
Sebold, C.D.1
Romie, S.2
Szymanska, J.3
Torres-Martinez, W.4
Thurston, V.5
Muesing, C.6
Vance, G.H.7
-
21
-
-
16944364802
-
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: A European collaborative study
-
Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, Oechsler H, Belohradsky B, Prieur M, Aurias A, Raymond FL, Clayton-Smith J, Hatchwell E, McKeown C, Beemer FA, Dallapiccola B, Novelli G, Hurst JA, Ignatius J, Green AJ, Winter RM, Brueton L, Brondum-Nielsen K, Scamber PJ 1997 Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 34:798-804
-
(1997)
J Med Genet
, vol.34
, pp. 798-804
-
-
Ryan, A.K.1
Goodship, J.A.2
Wilson, D.I.3
Philip, N.4
Levy, A.5
Seidel, H.6
Schuffenhauer, S.7
Oechsler, H.8
Belohradsky, B.9
Prieur, M.10
Aurias, A.11
Raymond, F.L.12
Clayton-Smith, J.13
Hatchwell, E.14
McKeown, C.15
Beemer, F.A.16
Dallapiccola, B.17
Novelli, G.18
Hurst, J.A.19
Ignatius, J.20
Green, A.J.21
Winter, R.M.22
Brueton, L.23
Brondum-Nielsen, K.24
Scamber, P.J.25
more..
-
22
-
-
0036798926
-
DiGeorge syndrome: The use of model organisms to dissect complex genetics
-
Baldini A 2002 DiGeorge syndrome: the use of model organisms to dissect complex genetics. Hum Mol Genet 11:2363-2369
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2363-2369
-
-
Baldini, A.1
-
23
-
-
0347753507
-
Kousseff syndrome: A causally heterogeneous disorder
-
Maclean K, Field MJ, Colley AS, Mowat DR, Sparrow DB, Dunwoodie SL, Kirk EP 2004 Kousseff syndrome: a causally heterogeneous disorder. Am J Med Genet A 124:307-312
-
(2004)
Am J Med Genet A
, vol.124
, pp. 307-312
-
-
Maclean, K.1
Field, M.J.2
Colley, A.S.3
Mowat, D.R.4
Sparrow, D.B.5
Dunwoodie, S.L.6
Kirk, E.P.7
-
24
-
-
0024450369
-
Congenital cardiovascular malformations: Questions on inheritance. Baltimore-Washington Infant Study Group
-
Ferencz C, Boughman JA, Neill CA, Brenner JI, Perry LW 1989 Congenital cardiovascular malformations: questions on inheritance. Baltimore-Washington Infant Study Group. J Am Coll Cardiol 14:756-763
-
(1989)
J Am Coll Cardiol
, vol.14
, pp. 756-763
-
-
Ferencz, C.1
Boughman, J.A.2
Neill, C.A.3
Brenner, J.I.4
Perry, L.W.5
-
25
-
-
34249000299
-
Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients
-
Thienpont B, Mertens L, de Ravel T, Eyskens B, Boshoff D, Maas N, Fryns JP, Gewillig M, Vermeesch JR, Devriendt K 2007 Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients. Eur Heart J 28:2778-2784
-
(2007)
Eur Heart J
, vol.28
, pp. 2778-2784
-
-
Thienpont, B.1
Mertens, L.2
de Ravel, T.3
Eyskens, B.4
Boshoff, D.5
Maas, N.6
Fryns, J.P.7
Gewillig, M.8
Vermeesch, J.R.9
Devriendt, K.10
-
26
-
-
34547644495
-
The clinical utility of enhanced subtelomeric coverage in array CGH
-
Ballif BC, Sulpizio SG, Lloyd RM, Minier SL, Theisen A, Bejjani BA, Shaffer LG 2007 The clinical utility of enhanced subtelomeric coverage in array CGH Am J Med Genet A 143:1850-1857
-
(2007)
Am J Med Genet A
, vol.143
, pp. 1850-1857
-
-
Ballif, B.C.1
Sulpizio, S.G.2
Lloyd, R.M.3
Minier, S.L.4
Theisen, A.5
Bejjani, B.A.6
Shaffer, L.G.7
-
27
-
-
0023752403
-
Familial risk of congenital heart defect
-
Nora JJ, Nora AH 1988 Familial risk of congenital heart defect. Am J Med Genet 29:231-233
-
(1988)
Am J Med Genet
, vol.29
, pp. 231-233
-
-
Nora, J.J.1
Nora, A.H.2
-
29
-
-
33748333194
-
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome
-
Sharp AJ, Hansen S, Selzer RR, Cheng Z, Regan R, Hurst JA, Stewart H, Price SM, Blair E, Hennekam RC, Fitzpatrick CA, Segraves R, Richmond TA, Guiver C, Albertson DG, Pinkel D, Eis PS, Schwartz S, Knight SJ, Eichler EE 2006 Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet 38:1038-1042
-
(2006)
Nat Genet
, vol.38
, pp. 1038-1042
-
-
Sharp, A.J.1
Hansen, S.2
Selzer, R.R.3
Cheng, Z.4
Regan, R.5
Hurst, J.A.6
Stewart, H.7
Price, S.M.8
Blair, E.9
Hennekam, R.C.10
Fitzpatrick, C.A.11
Segraves, R.12
Richmond, T.A.13
Guiver, C.14
Albertson, D.G.15
Pinkel, D.16
Eis, P.S.17
Schwartz, S.18
Knight, S.J.19
Eichler, E.E.20
more..
-
30
-
-
33745320481
-
Insights into the genetic basis of congenital heart disease
-
Garg V 2006 Insights into the genetic basis of congenital heart disease. Cell Mol Life Sci 63:1141-1148
-
(2006)
Cell Mol Life Sci
, vol.63
, pp. 1141-1148
-
-
Garg, V.1
-
31
-
-
34347361618
-
Copy number variations and clinical cytogenetic diagnosis of constitutional disorders
-
Lee C, Iafrate AJ, Brothman AR 2007 Copy number variations and clinical cytogenetic diagnosis of constitutional disorders. Nat Genet 39:S48-S54
-
(2007)
Nat Genet
, vol.39
-
-
Lee, C.1
Iafrate, A.J.2
Brothman, A.R.3
|