-
2
-
-
20244383850
-
Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome
-
DOI 10.1136/jmg.2004.027755
-
Tatton-Brown K., Douglas J., Coleman K., Baujat G., Chandler K., Clarke A., Collins A., Davies S., Faravelli F., Firth H., Garrett C., Hughes H., Kerr B., Liebelt J., Reardon W., Schaefer G. B., Splitt M., Temple I. K., Waggoner D., Weaver D. D., Wilson L., Cole T., Cormier-Daire V., Irrthum A., Rahman N., Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome Journal of Medical Genetics 2005 42 4 307 313 (Pubitemid 40523952)
-
(2005)
Journal of Medical Genetics
, vol.42
, Issue.4
, pp. 307-313
-
-
Tatton-Brown, K.1
Douglas, J.2
Coleman, K.3
Baujat, G.4
Chandler, K.5
Clarke, A.6
Collins, A.7
Davies, S.8
Faravelli, F.9
Firth, H.10
Garrett, C.11
Hughes, H.12
Kerr, B.13
Liebelt, J.14
Reardon, W.15
Schaefer, G.B.16
Splitt, M.17
Temple, I.K.18
Waggoner, D.19
Weaver, D.D.20
Wilson, L.21
Cole, T.22
Cormier-Daire, V.23
Irrthum, A.24
Rahman, N.25
more..
-
3
-
-
33846254455
-
Isolated ventricular non-compaction of the myocardium in adults
-
DOI 10.1130/hrt.2005.082271
-
Jenni R., Oechslin E. N., Van Der Loo B., Isolated ventricular non-compaction of the myocardium in adults Heart 2007 93 1 11 15 (Pubitemid 46094038)
-
(2007)
Heart
, vol.93
, Issue.1
, pp. 11-15
-
-
Jenni, R.1
Oechslin, E.N.2
Van Der Loo, B.3
-
4
-
-
34247223044
-
Isolated left ventricular non-compaction: The case for abnormal myocardial development
-
DOI 10.1017/S1047951107000273, PII S1047951107000273
-
Breckenridge R. A., Anderson R. H., Elliott P. M., Isolated left ventricular non-compaction: the case for abnormal myocardial development Cardiology in the Young 2007 17 2 124 129 (Pubitemid 46621390)
-
(2007)
Cardiology in the Young
, vol.17
, Issue.2
, pp. 124-129
-
-
Breckenridge, R.A.1
Anderson, R.H.2
Elliott, P.M.3
-
5
-
-
44449111196
-
Genetic heterogeneity of left ventricular noncompaction cardiomyopathy
-
DOI 10.1002/clc.20202
-
Moric-Janiszewska E., Markiewicz-oskot G., Genetic heterogeneity of left ventricular noncompaction cardiomyopathy Clinical Cardiology 2008 31 5 201 204 (Pubitemid 351760888)
-
(2008)
Clinical Cardiology
, vol.31
, Issue.5
, pp. 201-204
-
-
Moric-Janiszewska, E.1
Markiewicz-Loskot, G.2
-
6
-
-
0037108211
-
Left ventricular hypertrabeculation/noncompaction and association with additional cardiac abnormalities and neuromuscular disorders
-
Stllberger C., Finsterer J., Blazek G., Left ventricular hypertrabeculation/noncompaction and association with additional cardiac abnormalities and neuromuscular disorders American Journal of Cardiology 2002 90 8 899 902
-
(2002)
American Journal of Cardiology
, vol.90
, Issue.8
, pp. 899-902
-
-
Stllberger, C.1
Finsterer, J.2
Blazek, G.3
-
7
-
-
0032771725
-
Ventricular noncompaction and distal chromosome 5q deletion
-
DOI 10.1002/(SICI)1096-8628(19990806)85:4<419::AID-AJMG21>3.0.CO;2- S
-
Pauli R. M., Scheib-Wixted S., Cripe L., Izumo S., Sekhon G. S., Ventricular noncompaction and distal chromosome 5q deletion American Journal of Medical Genetics 1999 85 4 419 423 (Pubitemid 29339975)
-
(1999)
American Journal of Medical Genetics
, vol.85
, Issue.4
, pp. 419-423
-
-
Pauli, R.M.1
Scheib-Wixted, S.2
Cripe, L.3
Izumo, S.4
Sekhon, G.S.5
-
9
-
-
35648965252
-
Heterogeneity of NSD1 alterations in 116 patients with sotos syndrome
-
DOI 10.1002/humu.20568
-
Saugier-Veber P., Bonnet C., Afenjar A., Drouin-Garraud V., Coubes C., Fehrenbach S., Holder-Espinasse M., Roume J., Malan V., Portnoi M. F., Jeanne N., Baumann C., Héron D., David A., Gérard M., Bonneau D., Lacombe D., Cormier-Daire V., De Villemeur T. B., Frébourg T., Brglen L., Heterogeneity of NSD1 alterations in 116 patients with sotos syndrome Human Mutation 2007 28 11 1098 1107 (Pubitemid 350036914)
-
(2007)
Human Mutation
, vol.28
, Issue.11
, pp. 1098-1107
-
-
Saugier-Veber, P.1
Bonnet, C.2
Afenjar, A.3
Drouin-Garraud, V.4
Coubes, C.5
Fehrenbach, S.6
Holder-Espinasse, M.7
Roume, J.8
Malan, V.9
Portnoi, M.-F.10
Jeanne, N.11
Baumann, C.12
Heron, D.13
David, A.14
Gerard, M.15
Bonneau, D.16
Lacombe, D.17
Cormier-Daire, V.18
De Villemeur, T.B.19
Frebourg, T.20
Burglen, L.21
more..
|