-
1
-
-
33644857721
-
Delineation of a 2.2Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease
-
Baekvad-Hansen M, Tümer Z, Delicado A, Erdogan F, Tommerup N, Larsen LA. 2006. Delineation of a 2.2Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease. Am J Med Genet 140A: 427-433.
-
(2006)
Am J Med Genet
, vol.140 A
, pp. 427-433
-
-
Baekvad-Hansen, M.1
Tümer, Z.2
Delicado, A.3
Erdogan, F.4
Tommerup, N.5
Larsen, L.A.6
-
2
-
-
22244471387
-
Del 1p26 syndrome: A newly emerging clinical entity
-
Battaglia A. 2005. Del 1p26 syndrome: A newly emerging clinical entity. Brain Dev 27: 358-361.
-
(2005)
Brain Dev
, vol.27
, pp. 358-361
-
-
Battaglia, A.1
-
3
-
-
38849085346
-
Further delineation of deletion 1p36 syndrome in 60 patients: A recognizable phenotype and common cause of developmental delay and mental retardation
-
Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Braley LL, Zuberi SM, Carey JC. 2008. Further delineation of deletion 1p36 syndrome in 60 patients: A recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics 121: 404-410.
-
(2008)
Pediatrics
, vol.121
, pp. 404-410
-
-
Battaglia, A.1
Hoyme, H.E.2
Dallapiccola, B.3
Zackai, E.4
Hudgins, L.5
McDonald-McGinn, D.6
Bahi-Buisson, N.7
Romano, C.8
Williams, C.A.9
Braley, L.L.10
Zuberi, S.M.11
Carey, J.C.12
-
4
-
-
37249013889
-
Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication
-
Bernardini L, Castori M, Capalbo A, et al., 2007. Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication. Am J Med Genet Part A 143A: 2937-2943.
-
(2007)
Am J Med Genet Part A
, vol.143
, pp. 2937-2943
-
-
Bernardini, L.1
Castori, M.2
Capalbo, A.3
-
5
-
-
44449159866
-
Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-Myosin Heavy Chain Gene
-
Budde BS, Binner P, Waldmuller S, et al. 2007. Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-Myosin Heavy Chain Gene. PloS ONE 2: e1362.
-
(2007)
PloS ONE
, vol.2
-
-
Budde, B.S.1
Binner, P.2
Waldmuller, S.3
-
6
-
-
0030777101
-
A recognizable behavioural phenotype associated with terminal deletions of the short arm of chromosome 8
-
Claeys I, Holvoet M, Eyskens B, Adriaensens P, Gewillig M, Fryns JP, Devriendt K. 1997. A recognizable behavioural phenotype associated with terminal deletions of the short arm of chromosome 8. Am J Med Genet 74: 515-520.
-
(1997)
Am J Med Genet
, vol.74
, pp. 515-520
-
-
Claeys, I.1
Holvoet, M.2
Eyskens, B.3
Adriaensens, P.4
Gewillig, M.5
Fryns, J.P.6
Devriendt, K.7
-
7
-
-
0028131140
-
Ebstein's malformation of the tricuspid valve: Genetic and environmental factors. The Baltimore-Washington Infant Study Group
-
Correa-Villaseñor A, Ferencz C, Neill CA, Wilson PD, Boughman JA. 1994. Ebstein's malformation of the tricuspid valve: Genetic and environmental factors. The Baltimore-Washington Infant Study Group. Teratology 50: 137-147.
-
(1994)
Teratology
, vol.50
, pp. 137-147
-
-
Correa-Villaseñor, A.1
Ferencz, C.2
Neill, C.A.3
Wilson, P.D.4
Boughman, J.A.5
-
8
-
-
0031764199
-
Ebstein anomaly associated with rearrangements of chromosomal region 11q
-
De Lonlay-Debeney P, de Blois M-C, Bonnet D, Amiel J, Abadie V, Picq M, Lyonnet S, Sidi D, Munnich A, Vekemans M, Cormier-Daire V. 1998. Ebstein anomaly associated with rearrangements of chromosomal region 11q. Am J Med Genet 80: 157-159.
-
(1998)
Am J Med Genet
, vol.80
, pp. 157-159
-
-
De Lonlay-Debeney, P.1
de Blois, M.-C.2
Bonnet, D.3
Amiel, J.4
Abadie, V.5
Picq, M.6
Lyonnet, S.7
Sidi, D.8
Munnich, A.9
Vekemans, M.10
Cormier-Daire, V.11
-
9
-
-
0033365295
-
Delineation of the critical region for congenital heart defects, on chromosome 8p23.1
-
Devriendt K, Matthijs G, Van Dael R, Gewillig M, Eyskens B, Hjalgrim H, Dolmer B, McGaughran J, Brondum-Nielsen K, Marynen P, Fryns JP, Vermeesch JR. 1999. Delineation of the critical region for congenital heart defects, on chromosome 8p23.1. Am J Hum Genet 64: 1119-1126.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1119-1126
-
-
Devriendt, K.1
Matthijs, G.2
Van Dael, R.3
Gewillig, M.4
Eyskens, B.5
Hjalgrim, H.6
Dolmer, B.7
McGaughran, J.8
Brondum-Nielsen, K.9
Marynen, P.10
Fryns, J.P.11
Vermeesch, J.R.12
-
11
-
-
0032539490
-
Deletion 8p syndrome
-
Digilio MC, Marino B, Guccione P, Giannotti A, Mingarelli R, Dallapiccola B. 1998. Deletion 8p syndrome. Am J Med Genet 75: 534-536.
-
(1998)
Am J Med Genet
, vol.75
, pp. 534-536
-
-
Digilio, M.C.1
Marino, B.2
Guccione, P.3
Giannotti, A.4
Mingarelli, R.5
Dallapiccola, B.6
-
12
-
-
0030799792
-
The cardiac transcription factors Nkx 2-5 and GATA4 are mutual cofactors
-
Durocher D, Charron F, Warren R, Schwartz RJ, Nemer M. 1997. The cardiac transcription factors Nkx 2-5 and GATA4 are mutual cofactors. EMBO J 16: 5687-5696.
-
(1997)
EMBO J
, vol.16
, pp. 5687-5696
-
-
Durocher, D.1
Charron, F.2
Warren, R.3
Schwartz, R.J.4
Nemer, M.5
-
13
-
-
0032899034
-
Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and a review of the literature
-
Faivre L, Morichon-Delvallez N, Viot G, Martinovic J, Pinson MP, Aubry JP, Raclin V, Edery P, Dumez Y, Munnich A, Vekemans M. 1999. Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and a review of the literature. Prenat Diagn 19: 49-53.
-
(1999)
Prenat Diagn
, vol.19
, pp. 49-53
-
-
Faivre, L.1
Morichon-Delvallez, N.2
Viot, G.3
Martinovic, J.4
Pinson, M.P.5
Aubry, J.P.6
Raclin, V.7
Edery, P.8
Dumez, Y.9
Munnich, A.10
Vekemans, M.11
-
14
-
-
0003513386
-
-
Mount Kisko, New York: Futura Publishing Company, Inc
-
Ferencz C, Rubin JD, Loffredo CA, Magee CA. 1993. Epidemiology of congenital heart disease. The Baltimore-Washington Infant Study 1981-1989. Mount Kisko, New York: Futura Publishing Company, Inc.
-
(1993)
Epidemiology of congenital heart disease. The Baltimore-Washington Infant Study 1981-1989
-
-
Ferencz, C.1
Rubin, J.D.2
Loffredo, C.A.3
Magee, C.A.4
-
15
-
-
0043267988
-
GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5
-
Garg V, Kathiriya IS, Barnes R, Schluterman MK, King IN, Butler CA, Rothrock CR, Eapen RS, Hirayama-Yamada K, Joo K, Matsuoka R, Cohen JC, Srivastava D. 2003. GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature 424: 443-447.
-
(2003)
Nature
, vol.424
, pp. 443-447
-
-
Garg, V.1
Kathiriya, I.S.2
Barnes, R.3
Schluterman, M.K.4
King, I.N.5
Butler, C.A.6
Rothrock, C.R.7
Eapen, R.S.8
Hirayama-Yamada, K.9
Joo, K.10
Matsuoka, R.11
Cohen, J.C.12
Srivastava, D.13
-
16
-
-
0034713818
-
Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects
-
Giglio S, Graw SL, Gimelli G, Pirola B, Varone P, Voullaire L, Lerzo F, Rossi E, Della vecchia C, Bonaglia MC, Digilio MC, Giannotti A, Marino B, Carrozzo R, Korenberg JR, Danesino C, Sujansky E, Dallapiccola B, Zuffardi O. 2000. Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects. Circulation 102: 432-437.
-
(2000)
Circulation
, vol.102
, pp. 432-437
-
-
Giglio, S.1
Graw, S.L.2
Gimelli, G.3
Pirola, B.4
Varone, P.5
Voullaire, L.6
Lerzo, F.7
Rossi, E.8
Della vecchia, C.9
Bonaglia, M.C.10
Digilio, M.C.11
Giannotti, A.12
Marino, B.13
Carrozzo, R.14
Korenberg, J.R.15
Danesino, C.16
Sujansky, E.17
Dallapiccola, B.18
Zuffardi, O.19
-
17
-
-
74449089010
-
NKX2.5 mutations in patients with nonsyndromic congenital heart disease
-
Gioli-Pereira L, Costa Pereira A, Mesquita SM, Xavier-Neto J, Lopes AA, Krieger JE. 2010. NKX2.5 mutations in patients with nonsyndromic congenital heart disease. Int J Cardiol 138: 261-265.
-
(2010)
Int J Cardiol
, vol.138
, pp. 261-265
-
-
Gioli-Pereira, L.1
Costa Pereira, A.2
Mesquita, S.M.3
Xavier-Neto, J.4
Lopes, A.A.5
Krieger, J.E.6
-
18
-
-
77954813132
-
Multiplex ligation-dependent probe amplification analysis of GATA4 gene copy number variations in patients with isolated congenital heart disease
-
Guida V, Lepri F, Vijzelaar R, De Zorzi A, Versacci P, Digilio MC, Marino B, De Luca A, Dallapiccola B. 2010. Multiplex ligation-dependent probe amplification analysis of GATA4 gene copy number variations in patients with isolated congenital heart disease. Dis Markers 28: 287-292.
-
(2010)
Dis Markers
, vol.28
, pp. 287-292
-
-
Guida, V.1
Lepri, F.2
Vijzelaar, R.3
De Zorzi, A.4
Versacci, P.5
Digilio, M.C.6
Marino, B.7
De Luca, A.8
Dallapiccola, B.9
-
19
-
-
20944442976
-
Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect
-
Hirayama-Yamada K, Kamisago M, Akimoto K, Aotsuka H, Nakamura Y, Tomita H, Furutani M, Imamura S, Takao A, Nakazawa M, Matsuoka R. 2005. Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. Am J Med Genet Part A 135A: 47-52.
-
(2005)
Am J Med Genet Part A
, vol.135
, pp. 47-52
-
-
Hirayama-Yamada, K.1
Kamisago, M.2
Akimoto, K.3
Aotsuka, H.4
Nakamura, Y.5
Tomita, H.6
Furutani, M.7
Imamura, S.8
Takao, A.9
Nakazawa, M.10
Matsuoka, R.11
-
20
-
-
0026772983
-
Distal 8p deletion (8p23.1-8pter): A common deletion?
-
Hutchinson R, Wilson M, Voullaire L. 1992. Distal 8p deletion (8p23.1-8pter): A common deletion? J Med Genet 29: 407-411.
-
(1992)
J Med Genet
, vol.29
, pp. 407-411
-
-
Hutchinson, R.1
Wilson, M.2
Voullaire, L.3
-
21
-
-
0031844382
-
The cardiac tissue-restricted homeobox protein Csx/Nkx2.5 physically associates with the zinc finger protein GATA4 and cooperatively activates atrial natriuretic factor gene expression
-
Lee Y, Shioi T, Kasahara H, Jobe SM, Wiese RJ, Markham BE, Izumo S. 1998. The cardiac tissue-restricted homeobox protein Csx/Nkx2.5 physically associates with the zinc finger protein GATA4 and cooperatively activates atrial natriuretic factor gene expression. Mol Cell Biol 18: 3120-3129.
-
(1998)
Mol Cell Biol
, vol.18
, pp. 3120-3129
-
-
Lee, Y.1
Shioi, T.2
Kasahara, H.3
Jobe, S.M.4
Wiese, R.J.5
Markham, B.E.6
Izumo, S.7
-
23
-
-
0026583504
-
Nonrandom association of atrioventricular canal and del 8p syndrome
-
Marino B, Reale A, Giannotti A, Digilio MC, Dallapiccola B. 1992. Nonrandom association of atrioventricular canal and del 8p syndrome. Am J Med Genet 42: 424-427.
-
(1992)
Am J Med Genet
, vol.42
, pp. 424-427
-
-
Marino, B.1
Reale, A.2
Giannotti, A.3
Digilio, M.C.4
Dallapiccola, B.5
-
24
-
-
0026601492
-
Ebstein anomaly: Report of a familial occurrence and prenatal diagnosis
-
McIntosh N, Chitayat D, Bardanis M, Fouron JC. 1992. Ebstein anomaly: Report of a familial occurrence and prenatal diagnosis. Am J Med Genet 42: 307-309.
-
(1992)
Am J Med Genet
, vol.42
, pp. 307-309
-
-
McIntosh, N.1
Chitayat, D.2
Bardanis, M.3
Fouron, J.C.4
-
25
-
-
33645886074
-
Ebstein anomaly and duplication of the distal arm of chromosome 15: Report of two patients
-
Miller MS, Rao PN, Dudovitz RN, Falk RE. 2005. Ebstein anomaly and duplication of the distal arm of chromosome 15: Report of two patients. Am J Med Genet Part A 139A: 141-145.
-
(2005)
Am J Med Genet Part A
, vol.139
, pp. 141-145
-
-
Miller, M.S.1
Rao, P.N.2
Dudovitz, R.N.3
Falk, R.E.4
-
27
-
-
33746608567
-
A novel mutation in the GATA4 gene in patients with tetralogy of Fallot
-
Nemer G, Fadlalah F, Usta J, Nemer M, Dbaibo G, Obeid M, Bitar F. 2006. A novel mutation in the GATA4 gene in patients with tetralogy of Fallot. Human Mutat 27: 293-294.
-
(2006)
Human Mutat
, vol.27
, pp. 293-294
-
-
Nemer, G.1
Fadlalah, F.2
Usta, J.3
Nemer, M.4
Dbaibo, G.5
Obeid, M.6
Bitar, F.7
-
28
-
-
16544371915
-
A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family
-
Okubo A, Miyoshi O, Baba K, Takagi M, Tsukamoto K, Kinoshita A, Yoshiura K, Kishino T, Ohta T, Niikawa N, Matsumoto N. 2004. A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family. J Med Genet 41: e97.
-
(2004)
J Med Genet
, vol.41
-
-
Okubo, A.1
Miyoshi, O.2
Baba, K.3
Takagi, M.4
Tsukamoto, K.5
Kinoshita, A.6
Yoshiura, K.7
Kishino, T.8
Ohta, T.9
Niikawa, N.10
Matsumoto, N.11
-
29
-
-
43049123402
-
Two patients with atypical interstitial deletions of 8p23.1: Mapping of phenotypical traits
-
Paez MT, Yamamoto T, Hayashi K, Yasuda T, Harada N, Matsumoto N, Kurosawa K, Furutani Y, Asakawa S, Shimizu N, Matsuoka R. 2008. Two patients with atypical interstitial deletions of 8p23.1: Mapping of phenotypical traits. Am J Med Genet Part A 146A: 1158-1165.
-
(2008)
Am J Med Genet Part A
, vol.146
, pp. 1158-1165
-
-
Paez, M.T.1
Yamamoto, T.2
Hayashi, K.3
Yasuda, T.4
Harada, N.5
Matsumoto, N.6
Kurosawa, K.7
Furutani, Y.8
Asakawa, S.9
Shimizu, N.10
Matsuoka, R.11
-
30
-
-
0033582940
-
GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease
-
Pehlivan T, Pober BR, Brueckner M, Garrett S, Slaugh R, Van Rheeden R, Wilson DB, Watson MS, Hing AV. 1999. GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease. Am J Med Genet 83: 201-206.
-
(1999)
Am J Med Genet
, vol.83
, pp. 201-206
-
-
Pehlivan, T.1
Pober, B.R.2
Brueckner, M.3
Garrett, S.4
Slaugh, R.5
Van Rheeden, R.6
Wilson, D.B.7
Watson, M.S.8
Hing, A.V.9
-
31
-
-
0021874306
-
Persistent atrial standstill in familial Ebstein's anomaly
-
Piérard LA, Henrard L, Demoulin JC. 1985. Persistent atrial standstill in familial Ebstein's anomaly. Heart 53: 594-597.
-
(1985)
Heart
, vol.53
, pp. 594-597
-
-
Piérard, L.A.1
Henrard, L.2
Demoulin, J.C.3
-
32
-
-
0033613986
-
Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes
-
Riegel M, Castellan C, Balmer D, Brecevic L, Schinzel A. 1999. Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes. Am J Med Genet 82: 249-253.
-
(1999)
Am J Med Genet
, vol.82
, pp. 249-253
-
-
Riegel, M.1
Castellan, C.2
Balmer, D.3
Brecevic, L.4
Schinzel, A.5
-
33
-
-
28444447608
-
Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors
-
Sarkozy A, Conti E, Neri C, D'Agostino R, Digilio MC, Esposito G, Toscano A, Marino B, Pizzuti A, Dallapiccola B. 2005. Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors. J Med Genet 42: e16.
-
(2005)
J Med Genet
, vol.42
-
-
Sarkozy, A.1
Conti, E.2
Neri, C.3
D'Agostino, R.4
Digilio, M.C.5
Esposito, G.6
Toscano, A.7
Marino, B.8
Pizzuti, A.9
Dallapiccola, B.10
-
34
-
-
0033062156
-
Prenatal diagnosis of Down's syndrome in the presence of isolated Ebstein's anomaly
-
Silva SR, Bruner JP, Moore CA. 1999. Prenatal diagnosis of Down's syndrome in the presence of isolated Ebstein's anomaly. Fetal Diagn Ther 14: 149-151.
-
(1999)
Fetal Diagn Ther
, vol.14
, pp. 149-151
-
-
Silva, S.R.1
Bruner, J.P.2
Moore, C.A.3
-
35
-
-
20744452383
-
Familial biventricular myocardial noncompaction associated with Ebstein's malformation
-
Sinkovec M, Kozelj M, Podnar T. 2005. Familial biventricular myocardial noncompaction associated with Ebstein's malformation. Int J Cardiol 102: 297-302.
-
(2005)
Int J Cardiol
, vol.102
, pp. 297-302
-
-
Sinkovec, M.1
Kozelj, M.2
Podnar, T.3
-
36
-
-
0036913166
-
Ebstein's anomaly in siblings: An original observation
-
Uyan C, Yazici M, Uyan AP, Akdemir R, Imirzalioglu N, Dokumaci B. 2002. Ebstein's anomaly in siblings: An original observation. Int J Cardiovasc Imaging 18: 435-438.
-
(2002)
Int J Cardiovasc Imaging
, vol.18
, pp. 435-438
-
-
Uyan, C.1
Yazici, M.2
Uyan, A.P.3
Akdemir, R.4
Imirzalioglu, N.5
Dokumaci, B.6
-
37
-
-
0033430230
-
Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways
-
Woodrow Benson D, Siberbach GM, Kavanaugh-McHugh A, Cottrill C, Zhang Y, Riggs S, Smalls O, Johnson MC, Watson MS, Seidman JG, Seidman CE, Plowden J, Kugler JD. 1999. Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. J Clin Invest 104: 1567-1573.
-
(1999)
J Clin Invest
, vol.104
, pp. 1567-1573
-
-
Woodrow Benson, D.1
Siberbach, G.M.2
Kavanaugh-McHugh, A.3
Cottrill, C.4
Zhang, Y.5
Riggs, S.6
Smalls, O.7
Johnson, M.C.8
Watson, M.S.9
Seidman, J.G.10
Seidman, C.E.11
Plowden, J.12
Kugler, J.D.13
-
38
-
-
0029866263
-
Distal 8p deletion (8)(p23.1): An easily missed chromosomal abnormality that may be associated with congenital heart defect and mental retardation
-
Wu B-L, Schneider GH, Sabatino DE, Bozovic LZ, Cao B, Korf BR. 1996. Distal 8p deletion (8)(p23.1): An easily missed chromosomal abnormality that may be associated with congenital heart defect and mental retardation. Am J Med Genet 62: 77-83.
-
(1996)
Am J Med Genet
, vol.62
, pp. 77-83
-
-
Wu, B.-L.1
Schneider, G.H.2
Sabatino, D.E.3
Bozovic, L.Z.4
Cao, B.5
Korf, B.R.6
-
39
-
-
33846682721
-
Screening of 99 Danish patients with congenital heart disease for GATA4 mutations
-
Zhang L, Tümer Z, Jacobsen JR, Andersen PS, Tommerup N, Larsen LA. 2006. Screening of 99 Danish patients with congenital heart disease for GATA4 mutations. Genetic testing 10: 277-280.
-
(2006)
Genetic testing
, vol.10
, pp. 277-280
-
-
Zhang, L.1
Tümer, Z.2
Jacobsen, J.R.3
Andersen, P.S.4
Tommerup, N.5
Larsen, L.A.6
|