-
1
-
-
10744231880
-
Guideline update for the clinical application of echocardiography: Summary article. A report of the American College of Cardiology/American Heart Association task force on practice guidelines (ACC/AHA/ASE Committee to update the 1997 guidelines for the clinical application of echocardiography)
-
ACC/AHA/ASE. Committee members: Cheitlin MD, Armstrong WF, Aurigemma GP, Beller GA, Bierman FZ, Davis JL, Douglas PS, Faxon DP, Gillam LD, Kimball TR, Kussmaul WG, Pearlman AS, Philbrick JT, Rakowski H, Thys DM, Antman EM, Smith SC Jr, Alpert JS, Gregoratos G, Anderson JL, Hiratzka LF, Faxon DP, Hunt SA, Fuster V, Jacobs AK, Gibbons RJ, Russell RO
-
ACC/AHA/ASE. 2003. Guideline update for the clinical application of echocardiography: summary article. A report of the American College of Cardiology/American Heart Association task force on practice guidelines (ACC/AHA/ASE Committee to update the 1997 guidelines for the clinical application of echocardiography). Committee members: Cheitlin MD, Armstrong WF, Aurigemma GP, Beller GA, Bierman FZ, Davis JL, Douglas PS, Faxon DP, Gillam LD, Kimball TR, Kussmaul WG, Pearlman AS, Philbrick JT, Rakowski H, Thys DM, Antman EM, Smith SC Jr, Alpert JS, Gregoratos G, Anderson JL, Hiratzka LF, Faxon DP, Hunt SA, Fuster V, Jacobs AK, Gibbons RJ, Russell RO. J Am Soc Echocardiogr 16:1091-1110.
-
(2003)
J Am Soc Echocardiogr
, vol.16
, pp. 1091-1110
-
-
-
2
-
-
33745909174
-
Genotype-phenotype correlations of 39 patients with Cornelia de Lange syndrome: The Dutch experience
-
DOI 10.1136/jmg.2005.038240
-
Bhuiyan Z, Klein M, Hammond P, Van Haeringen A, Mannens M, Van Berckelaer-Onnes I, Hennekam RCM. 2006. Genotype-phenotype correlations of 39 patients with Cornelia de Lange syndrome: The Dutch experience. J Med Genet 43:568-575. (Pubitemid 44048763)
-
(2006)
Journal of Medical Genetics
, vol.43
, Issue.7
, pp. 568-575
-
-
Bhuiyan, Z.A.1
Klein, M.2
Hammond, P.3
Van Haeringen, A.4
Mannens, M.M.A.M.5
Van Berckelaer-Onnes, I.6
Hennekam, R.C.M.7
-
3
-
-
2342516034
-
Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome
-
Borck G, Redon R, Sanlaville D, Rio M, Prieur M, Lyonnet S, Vekemans M, Carter NP, Munnich A, Colleaux L, Cormier-Daire V. 2004. NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome. J Med Genet 41:e128. (Pubitemid 38608522)
-
(2004)
Journal of Medical Genetics
, vol.41
, Issue.5
, pp. 381-386
-
-
Pinson, L.1
Auge, J.2
Audollent, S.3
Mattei, G.4
Etchevers, H.5
Gigarel, N.6
Razavi, F.7
Lacombe, D.8
Odent, S.9
Le Merrer, M.10
Amiel, J.11
Munnich, A.12
Meroni, G.13
Lyonnet, S.14
Vekemans, M.15
Attie-Bitach, T.16
-
4
-
-
0041425094
-
Congenital heart defects: 15 Years of experience of the Emilia-Romagna Registry (Italy)
-
DOI 10.1023/A:1025312603880
-
Calzolari E, Garani G, Cocchi G, Magnani C, Rivieri F, Neville A, Astolfi G, Baroncini A, Garavelli L, Gualandi F, Scorrano M, Bosi G, IMER Working Group. 2003. Congenital heart defects: 15 years of experience of the Emilia Romagna registry. Eur J Epidemiol 18:773-780. (Pubitemid 37039976)
-
(2003)
European Journal of Epidemiology
, vol.18
, Issue.8
, pp. 773-780
-
-
Calzolari, E.1
Garani, G.2
Cocchi, G.3
Magnani, C.4
Rivieri, F.5
Neville, A.6
Astolfi, G.7
Baroncini, A.8
Garavelli, L.9
Gualandi, F.10
Scorrano, M.11
Bosi, G.12
-
5
-
-
33847196427
-
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation
-
DOI 10.1086/511888
-
Deardorff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, Gil-Rodríguez C, Arnedo M, Loeys B, Kline AD, Wilson M, Lillquist K, Siu V, Ramos FJ, Musio A, Jackson LS, Dorsett D, Krantz ID. 2007. Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation. Am J Hum Genet 80:485-494. (Pubitemid 46310980)
-
(2007)
American Journal of Human Genetics
, vol.80
, Issue.3
, pp. 485-494
-
-
Deardorff, M.A.1
Kaur, M.2
Yaeger, D.3
Rampuria, A.4
Korolev, S.5
Pie, J.6
Gil-Rodriguez, C.7
Arnedo, M.8
Loeys, B.9
Kline, A.D.10
Wilson, M.11
Lillquist, K.12
Siu, V.13
Ramos, F.J.14
Musio, A.15
Jackson, L.S.16
Dorsett, D.17
Krantz, I.D.18
-
6
-
-
0003513388
-
-
Mount Kisko, NY: Futura
-
Ferencz C, Rubin JD, Loffredo CA, Magee C. 1993. Perspectives in Pediatric Cardiology Vol4 - Epidemiology of congenital heart disease, the Baltimore-Washington infant study, 1981-1989. Mount Kisko, NY: Futura. pp. 33-62.
-
(1993)
Perspectives in Pediatric Cardiology Vol4 - Epidemiology of Congenital Heart Disease, the Baltimore-Washington Infant Study, 1981-1989
, pp. 33-62
-
-
Ferencz, C.1
Rubin, J.D.2
Loffredo, C.A.3
Magee, C.4
-
7
-
-
0024556981
-
The de Lange syndrome. Report of 15 cases
-
Filippi G, 1989. The de Lange syndrome: Report of 15 cases. Clin Genet 35:343-363. (Pubitemid 19128523)
-
(1989)
Clinical Genetics
, vol.35
, Issue.5
, pp. 343-363
-
-
Filippi, G.1
-
9
-
-
0002332264
-
Echocardiography and doppler ultrasound
-
Garson A Jr, Bricker JT, Fisher DJ, Neish SR, editors. Baltimore: Williams and Wilkins
-
Geva T. 1998. Echocardiography and doppler ultrasound. In: Garson A Jr, Bricker JT, Fisher DJ, Neish SR, editors. The science and practice of pediatric cardiology. Baltimore: Williams and Wilkins. pp. 789-845.
-
(1998)
The Science and Practice of Pediatric Cardiology
, pp. 789-845
-
-
Geva, T.1
-
10
-
-
4544253309
-
NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations
-
DOI 10.1086/424698
-
Gillis LA, McCallum J, Kaur M, DeScipio C, Yaeger D, Mariani A, Kline AD, Li HH, Devoto M, Jackson LG, Krantz ID. 2004. NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. Am J Hum Genet 75:610-623. (Pubitemid 39244775)
-
(2004)
American Journal of Human Genetics
, vol.75
, Issue.4
, pp. 610-623
-
-
Gillis, L.A.1
McCallum, J.2
Kaur, M.3
Descipio, C.4
Yaeger, D.5
Mariani, A.6
Kline, A.D.7
Li, H.-H.8
Devoto, M.9
Jackson, L.G.10
Krantz, I.D.11
-
12
-
-
0027429307
-
De Lange syndrome: A clinical review of 310 individuals
-
DOI 10.1002/ajmg.1320470703
-
Jackson L, Kline AD, Barr MA, Koch S. 1993. De Lange Syndrome: A clinical review of 310 individuals. Am J Med Genet 47:940-946. (Pubitemid 23323389)
-
(1993)
American Journal of Medical Genetics
, vol.47
, Issue.7
, pp. 940-946
-
-
Jackson, L.1
Kline, A.D.2
Barr, M.A.3
Koch, S.4
-
13
-
-
0034840351
-
Patent foramen ovale: A review of associated conditions and the impact of physiological size
-
DOI 10.1016/S0735-1097(01)01427-9, PII S0735109701014279
-
Kerut EK, Norfleet WT, Plotnick GD, Giles TD. 2001. Patent foramen ovale: A review of associated conditions and the impact of physiological size. J Am Coll Cardiol 38:613-623. (Pubitemid 32835725)
-
(2001)
Journal of the American College of Cardiology
, vol.38
, Issue.3
, pp. 613-623
-
-
Kerut, E.K.1
Norfleet, W.T.2
Plotnick, G.D.3
Giles, T.D.4
-
14
-
-
2642542322
-
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B
-
DOI 10.1038/ng1364
-
Krantz ID, McCallum J, DeScipio C, Kaur M, Gillis LA, Yaeger D, Jukofsky L, Wasserman N, Bottani A, Morris CA, Nowaczyk MJ, Toriello H, Bamshad MJ, Carey JC, Rappaport E, Kawauchi S, Lander AD, Calof AL, Li HH, Devoto M, Jackson LG. 2004. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet 6:631-635. (Pubitemid 38715992)
-
(2004)
Nature Genetics
, vol.36
, Issue.6
, pp. 631-635
-
-
Krantz, I.D.1
McCallum, J.2
Descipio, C.3
Kaur, M.4
Gillis, L.A.5
Yaeger, D.6
Jukofsky, L.7
Wasserman, N.8
Bottani, A.9
Morris, C.A.10
Nowaczyk, M.J.M.11
Toriello, H.12
Bamshad, M.J.13
Carey, J.C.14
Rappaport, E.15
Kawauchi, S.16
Lander, A.D.17
Calof, A.L.18
Li, H.-H.19
Devoto, M.20
Jackson, L.G.21
more..
-
15
-
-
0023895824
-
Prevalence of patent foramen ovale in patients with stroke
-
Lechat P, Mas JL, Lascault G, Loron P, Theard M, Klimczac M, Drobinski G, Thomas D, Grosgogeat Y. 1988. Prevalence of patent foramen ovale in patients with stroke. N Engl J Med 318:1148-1152. (Pubitemid 18117693)
-
(1988)
New England Journal of Medicine
, vol.318
, Issue.18
, pp. 1148-1152
-
-
Lechat, Ph.1
Mas, J.L.2
Lascault, G.3
Loron, Ph.4
Theard, M.5
Klimczac, M.6
Drobinski, G.7
Thomas, D.8
Grosgogeat, Y.9
-
16
-
-
0030777193
-
Occurrence of congenital heart disease in children with Brachmann-de Lange syndrome
-
DOI 10.1002/(SICI)1096-8628(19970905)71:4<434::AID-AJMG12>3.0.CO;2- H
-
Mehta AV, Ambalavanan SK. 1997. Occurrence of congenital heart disease in children with de Lange syndrome. Am J Med Genet 71:434-435. (Pubitemid 27371843)
-
(1997)
American Journal of Medical Genetics
, vol.71
, Issue.4
, pp. 434-435
-
-
Mehta, A.V.1
Ambalavanan, S.K.2
-
17
-
-
33646379870
-
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations
-
Musio A, Selicorni A, Focarelli ML,Gervasini C, Milani D, Russo S, Vezzoni P, Larizza L. 2006. X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nat Genet 5:528-530.
-
(2006)
Nat Genet
, vol.5
, pp. 528-530
-
-
Musio, A.1
Selicorni, A.2
Focarelli, M.L.3
Gervasini, C.4
Milani, D.5
Russo, S.6
Vezzoni, P.7
Larizza, L.8
-
18
-
-
33646375465
-
Calcific bicuspid aortic valve disease in a patient with Cornelia de Lange syndrome: Linking altered Notch signaling to aortic valve disease
-
DOI 10.1016/j.carpath.2006.02.002, PII S1054880706000238
-
Oudit GY, Chow CM, Cantor WJ. 2006. Calcific bicuspid aortic valve disease in a patient with Cornelia de Lange syndrome: Linking altered notch signaling to aortic valve disease. Cardiovasc Pathol 15:165-167. (Pubitemid 43669077)
-
(2006)
Cardiovascular Pathology
, vol.15
, Issue.3
, pp. 165-167
-
-
Oudit, G.Y.1
Chow, C.-M.2
Cantor, W.J.3
-
19
-
-
17844375954
-
Isolated persistent fifth aortic arch in a patient with Cornelia de Lange syndrome
-
DOI 10.1007/s00246-004-9012-5
-
Park HJ, Oh JM, Park SE, Nam SO, Kim CW, Kim KI. 2005. Isolated persistent fifth aortic arch in a patient with Cornelia de Lange syndrome. Pediatr Cardiol 26:112-114. (Pubitemid 41569576)
-
(2005)
Pediatric Cardiology
, vol.26
, Issue.1
, pp. 112-114
-
-
Park, H.-J.1
Oh, J.-M.2
Park, S.-E.3
Nam, S.-O.4
Kim, C.-W.5
Kim, K.-I.6
-
20
-
-
33846611949
-
Genetics of congenital heart diseases in syndromic and non-syndromic patients: New advances and clinical implications
-
DOI 10.2459/01.JCM.0000247428.51828.51, PII 0124466520070100000003
-
Piacentini G, Digilio MC, Sarkozy A, Placidi S, Dallapiccola B, Marino B. 2007. Genetics of congenital heart diseases in syndromic and nonsyndromic patients: New advances and clinical implications. J Cardiovasc Med 8:7-11. (Pubitemid 46175141)
-
(2007)
Journal of Cardiovascular Medicine
, vol.8
, Issue.1
, pp. 7-11
-
-
Piacentini, G.1
Digilio, M.C.2
Sarkozy, A.3
Placidi, S.4
Dallapiccola, B.5
Marino, B.6
-
21
-
-
0015141364
-
Congenital heart disease in Cornelia de Lange syndrome
-
Rao PS, Sissman NJ. 1971. Congenital heart disease in Cornelia de Lange syndrome. J Pediatr 79:674-677.
-
(1971)
J Pediatr
, vol.79
, pp. 674-677
-
-
Rao, P.S.1
Sissman, N.J.2
-
22
-
-
12944273481
-
Anomalies of the kidney and urinary tract are common in de Lange syndrome
-
DOI 10.1002/ajmg.a.30445
-
Selicorni A, Sforzini C, Milani D, Cagnoli G, Fossali E, Bianchetti MG. 2005. Anomalies of the kidney and urinary tract are common in Cornelia de Lange syndrome. Am J Med Genet Part A 132A:395-397. (Pubitemid 40175591)
-
(2005)
American Journal of Medical Genetics
, vol.132 A
, Issue.4
, pp. 395-397
-
-
Selicorni, A.1
Sforzini, C.2
Milani, D.3
Cagnoli, G.4
Fossali, E.5
Bianchetti, M.G.6
-
23
-
-
34249864290
-
Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation
-
DOI 10.1111/j.1399-0004.2007.00832.x
-
Selicorni A, Russo S, Gervasini C, Castronovo P, Milani D, Cavalleri F, Bentivegna A, Masciadri M, Domi A, Divizia MT, Sforzini C, Tarantino E, Memo L, Scarano G, Larizza L. 2007. Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation. Clin Genet 72:98-108. (Pubitemid 47262079)
-
(2007)
Clinical Genetics
, vol.72
, Issue.2
, pp. 98-108
-
-
Selicorni, A.1
Russo, S.2
Gervasini, C.3
Castronovo, P.4
Milani, D.5
Cavalleri, F.6
Bentivegna, A.7
Masciadri, M.8
Domi, A.9
Divizia, M.T.10
Sforzini, C.11
Tarantino, E.12
Memo, L.13
Scarano, G.14
Larizza, L.15
-
24
-
-
2642565901
-
NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome
-
DOI 10.1038/ng1363
-
Tonkin ET, Wang TJ, Lisgo S, Bamshad MJ, Strachan T. 2004. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat Genet 36:636-641. (Pubitemid 38715993)
-
(2004)
Nature Genetics
, vol.36
, Issue.6
, pp. 636-641
-
-
Tonkin, E.T.1
Wang, T.-J.2
Lisgo, S.3
Bamshad, M.J.4
Strachan, T.5
-
25
-
-
0032477639
-
Brachmann-de lange syndrome and congenital heart disease
-
Tsukahara M, Okamoto N, Nagai T, Ohashi H, Natritomi K, Kuwajima K, Haseegawa T, Kondo I, Fukushima Y, Sugie H, Masuno M. 1998. Brachmann de Lange syndrome and congenital heart disease. Am J Med Gen 75:441-442. (Pubitemid 128786456)
-
(1998)
American Journal of Medical Genetics
, vol.75
, Issue.4
, pp. 441-442
-
-
Tsukahara, M.1
|