-
1
-
-
22244471387
-
Del 1p36 syndrome: A newly emerging clinical entity
-
Battaglia A. 2005. Del 1p36 syndrome: A newly emerging clinical entity. Brain Dev 27:358-361.
-
(2005)
Brain Dev
, vol.27
, pp. 358-361
-
-
Battaglia, A.1
-
2
-
-
38849085346
-
-
Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald- McGinn D, Bahi-Buisson N, Romano C, Williams CA, BraileyLL, 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.
-
Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald- McGinn D, Bahi-Buisson N, Romano C, Williams CA, BraileyLL, 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.
-
-
-
-
3
-
-
0030774767
-
Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome
-
Bleyl SB, Mumford BR, Thompson V, Carey JC, Pysher TJ, Chin TK, Ward K. 1997. Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome. Am J Hum Genet 61:868-872.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 868-872
-
-
Bleyl, S.B.1
Mumford, B.R.2
Thompson, V.3
Carey, J.C.4
Pysher, T.J.5
Chin, T.K.6
Ward, K.7
-
4
-
-
33646776774
-
X-linked fetal cardiomyopathy caused by a novel mutation in the TAZ gene
-
FernhoffPM
-
Brady AN, Shehata BM, FernhoffPM. 2006. X-linked fetal cardiomyopathy caused by a novel mutation in the TAZ gene. Prenat Diagn 26:462-465.
-
(2006)
Prenat Diagn
, vol.26
, pp. 462-465
-
-
Brady, A.N.1
Shehata, B.M.2
-
5
-
-
15744397822
-
Paralinguistic processing in children with callosal agenesis: Emergence of neurolinguistic deficits
-
Brown WS, Symingtion M, VanLancker-Sidtis D, Dietrich R, Paul LK. 2005. Paralinguistic processing in children with callosal agenesis: Emergence of neurolinguistic deficits. Brain Lang 93:135-139.
-
(2005)
Brain Lang
, vol.93
, pp. 135-139
-
-
Brown, W.S.1
Symingtion, M.2
VanLancker-Sidtis, D.3
Dietrich, R.4
Paul, L.K.5
-
6
-
-
17844370521
-
Left ventricular noncom- paction: A pathological study of 14 cases
-
Burke A, Mont E, Kutys R, Virmani R. 2005. Left ventricular noncom- paction: A pathological study of 14 cases. Hum Pathol 36:403-411.
-
(2005)
Hum Pathol
, vol.36
, pp. 403-411
-
-
Burke, A.1
Mont, E.2
Kutys, R.3
Virmani, R.4
-
7
-
-
0028269577
-
Multiple pilomatricomas in Rubinstein-Taybi syndrome: A case report
-
Cambiaghi S, Ermacora E, Brusasco A, Canzi L, Caputo R. 1994. Multiple pilomatricomas in Rubinstein-Taybi syndrome: A case report. Pediatr Dermatol 11:21-25.
-
(1994)
Pediatr Dermatol
, vol.11
, pp. 21-25
-
-
Cambiaghi, S.1
Ermacora, E.2
Brusasco, A.3
Canzi, L.4
Caputo, R.5
-
8
-
-
0025106446
-
Isolated noncompaction of left ventricular myocardium: A study of eight cases
-
Chin TK, Perloff JK, Williams RG, Jue K, Mohrmann R. 1990. Isolated noncompaction of left ventricular myocardium: A study of eight cases. Circulation 82:507-513.
-
(1990)
Circulation
, vol.82
, pp. 507-513
-
-
Chin, T.K.1
Perloff, J.K.2
Williams, R.G.3
Jue, K.4
Mohrmann, R.5
-
9
-
-
0033516626
-
Genetic heterogeneity ofisolated noncompaction ofthe left ventricular myocardium
-
Digilio MC, Marino B, Bevilacqua M, Musolino AM, Giannotti A, Dalla- piccola B. 1999. Genetic heterogeneity ofisolated noncompaction ofthe left ventricular myocardium. Am J Med Genet 85:90-91.
-
(1999)
Am J Med Genet
, vol.85
, pp. 90-91
-
-
Digilio, M.C.1
Marino, B.2
Bevilacqua, M.3
Musolino, A.M.4
Giannotti, A.5
Dalla- piccola, B.6
-
10
-
-
0021241596
-
Identification of a rare congenital anomaly of the myocardium by two-dimensional echocardiography: Persistence of isolated myocardial sinusoids
-
Engberding R, Bender F. 1984a. Identification of a rare congenital anomaly of the myocardium by two-dimensional echocardiography: Persistence of isolated myocardial sinusoids. Am J Cardiol 53:1733-1734.
-
(1984)
Am J Cardiol
, vol.53
, pp. 1733-1734
-
-
Engberding, R.1
Bender, F.2
-
11
-
-
0021689803
-
Echocardiographic detection ofpersistent myocardial sinusoids
-
Engberding R, Bender F. 1984b. Echocardiographic detection ofpersistent myocardial sinusoids. Z Kardiol 73:786-788.
-
(1984)
Z Kardiol
, vol.73
, pp. 786-788
-
-
Engberding, R.1
Bender, F.2
-
12
-
-
34347341609
-
Isolated noncompaction of the left ventricular myocardium - a review of the literature two decades after the initial case description
-
Engberding R, Yelbuz TM, Breithardt G. 2007. Isolated noncompaction of the left ventricular myocardium - a review of the literature two decades after the initial case description. Clin Res Cardiol 96:481 -488.
-
(2007)
Clin Res Cardiol
, vol.96
, pp. 481-488
-
-
Engberding, R.1
Yelbuz, T.M.2
Breithardt, G.3
-
13
-
-
23644452964
-
Left ventricular hypertrabeculation/ noncompaction as a cardiac manifestation ofDuchenne muscular dystrophy under non-invasive positive-pressure ventilation
-
Finsterer J, Gelpi E, Stollberger C. 2005. Left ventricular hypertrabeculation/ noncompaction as a cardiac manifestation ofDuchenne muscular dystrophy under non-invasive positive-pressure ventilation. Acta Cardiol 60: 445-448.
-
(2005)
Acta Cardiol
, vol.60
, pp. 445-448
-
-
Finsterer, J.1
Gelpi, E.2
Stollberger, C.3
-
14
-
-
34250783255
-
Complete heart block associated with noncompaction, nail-patella syndrome, and mi- tochondrial myopathy
-
Finsterer J, Stoollberger C, Steger C, Cozzarini W. 2007a. Complete heart block associated with noncompaction, nail-patella syndrome, and mi- tochondrial myopathy. J Electrocardiol 40:352-354.
-
(2007)
J Electrocardiol
, vol.40
, pp. 352-354
-
-
Finsterer, J.1
Stoollberger, C.2
Steger, C.3
Cozzarini, W.4
-
15
-
-
34548510894
-
Left ventricular hypertrabeculation (noncompaction) with prominent calcifications in a patient with mannose-binding lectin deficiency and unclassified myopathy
-
Finsterer J, Stoollberger C, Karner J, Keller H, Feichtinger H. 2007b. Left ventricular hypertrabeculation (noncompaction) with prominent calcifications in a patient with mannose-binding lectin deficiency and unclassified myopathy. Cardiovasc Pathol 16:310-312.
-
(2007)
Cardiovasc Pathol
, vol.16
, pp. 310-312
-
-
Finsterer, J.1
Stoollberger, C.2
Karner, J.3
Keller, H.4
Feichtinger, H.5
-
16
-
-
41549135595
-
Acquired left ventricular noncompaction as a cardiac manifestation of neuromuscular disorders
-
Finsterer J, Stoollberger C, Schubert B. 2008. Acquired left ventricular noncompaction as a cardiac manifestation of neuromuscular disorders. Scand Cardiovasc J 42:25-30.
-
(2008)
Scand Cardiovasc J
, vol.42
, pp. 25-30
-
-
Finsterer, J.1
Stoollberger, C.2
Schubert, B.3
-
17
-
-
33846376556
-
Noncompaction ofthe left ventricle in a patient with dextroversion
-
Friedman MA, Wiseman S, Haramati L, Gordon GM, Spevack DM. 2007. Noncompaction ofthe left ventricle in a patient with dextroversion. Eur J Echocardiogr 8:70-73.
-
(2007)
Eur J Echocardiogr
, vol.8
, pp. 70-73
-
-
Friedman, M.A.1
Wiseman, S.2
Haramati, L.3
Gordon, G.M.4
Spevack, D.M.5
-
18
-
-
39849096263
-
Multiple giant pilomatricoma in familial Sotos syndrome
-
Gilaberte Y, Ferrer-Lozano M, Olivan MJ, Coscojuela C, Abascal M, Lapunzina P. 2008. Multiple giant pilomatricoma in familial Sotos syndrome. Pediatr Dermatol 125:122-125.
-
(2008)
Pediatr Dermatol
, vol.125
, pp. 122-125
-
-
Gilaberte, Y.1
Ferrer-Lozano, M.2
Olivan, M.J.3
Coscojuela, C.4
Abascal, M.5
Lapunzina, P.6
-
19
-
-
0035814967
-
Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome
-
Ichida F, Tsubata S, Bowles KR, Haneda N, Uese K, Miyawaki T, Dreyer WJ, Messina J, Li H, Bowles NE, Towbin JA. 2001. Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. Circulation 103:1256-1263.
-
(2001)
Circulation
, vol.103
, pp. 1256-1263
-
-
Ichida, F.1
Tsubata, S.2
Bowles, K.R.3
Haneda, N.4
Uese, K.5
Miyawaki, T.6
Dreyer, W.J.7
Messina, J.8
Li, H.9
Bowles, N.E.10
Towbin, J.A.11
-
20
-
-
33750599185
-
Rubinstein-Taybi syndrome and familial Mediterranean fever in a single patient: Two distinct genetic diseases located on chromosome 16p13.3
-
Kalyoncu U, Tufan A, Karadag O, Kisacik B, Akdogan A, Calguneri M. 2006. Rubinstein-Taybi syndrome and familial Mediterranean fever in a single patient: Two distinct genetic diseases located on chromosome 16p13.3. J Natl Med Assoc 98:1692-1693.
-
(2006)
J Natl Med Assoc
, vol.98
, pp. 1692-1693
-
-
Kalyoncu, U.1
Tufan, A.2
Karadag, O.3
Kisacik, B.4
Akdogan, A.5
Calguneri, M.6
-
21
-
-
33744815237
-
Interstitial 1q43-q43 deletion with left ventricular noncompaction myocardium
-
Kanemoto N, Horigome H, Nakayama J, Ichida F, Xing Y, Buonadonna AL, Kanemoto K, Gentile M. 2006. Interstitial 1q43-q43 deletion with left ventricular noncompaction myocardium. Eur J Med Genet 49:247-253.
-
(2006)
Eur J Med Genet
, vol.49
, pp. 247-253
-
-
Kanemoto, N.1
Horigome, H.2
Nakayama, J.3
Ichida, F.4
Xing, Y.5
Buonadonna, A.L.6
Kanemoto, K.7
Gentile, M.8
-
22
-
-
0037700187
-
Cutaneous aplasia, non compaction of the left ventricle and severe cardiac arrhythmia: A new case of MLS syndrome (microphthalmia with linear skin defects)
-
Kherbaoui-Redouani L, Eschard C, Bednarek N, Morville P. 2003. Cutaneous aplasia, non compaction of the left ventricle and severe cardiac arrhythmia: A new case of MLS syndrome (microphthalmia with linear skin defects). Arch Pediatr 10:224-226.
-
(2003)
Arch Pediatr
, vol.10
, pp. 224-226
-
-
Kherbaoui-Redouani, L.1
Eschard, C.2
Bednarek, N.3
Morville, P.4
-
23
-
-
33845448118
-
Isolated ventricular non-compaction: Clinical study and genetic review
-
Markiewicz-Eoskot G, Moric-Janiszewska E, Loskot M, Szydlowski L, Weglarz L, Hollek A. 2006. Isolated ventricular non-compaction: Clinical study and genetic review. Europace 8:1064-1067.
-
(2006)
Europace
, vol.8
, pp. 1064-1067
-
-
Markiewicz-Eoskot, G.1
Moric-Janiszewska, E.2
Loskot, M.3
Szydlowski, L.4
Weglarz, L.5
Hollek, A.6
-
24
-
-
0036172442
-
Multiple pilomatricoma in trisomy 9
-
Matsuura H, Hatamochi A, Nakamura Y, Endo H, Shinkai H. 2002. Multiple pilomatricoma in trisomy 9. Dermatology 204:82-83.
-
(2002)
Dermatology
, vol.204
, pp. 82-83
-
-
Matsuura, H.1
Hatamochi, A.2
Nakamura, Y.3
Endo, H.4
Shinkai, H.5
-
25
-
-
29344441240
-
Left ventricular noncompaction cardio- myopathy in association with trisomy 13
-
McMahon CJ, Chang AC, Pignatelli RH, Miller-Hance WC, Eble BK, Towbin JA, Denfield SW. 2005. Left ventricular noncompaction cardio- myopathy in association with trisomy 13. Pediatr Cardiol 26:477-479.
-
(2005)
Pediatr Cardiol
, vol.26
, pp. 477-479
-
-
McMahon, C.J.1
Chang, A.C.2
Pignatelli, R.H.3
Miller-Hance, W.C.4
Eble, B.K.5
Towbin, J.A.6
Denfield, S.W.7
-
26
-
-
44449111196
-
Genetic heterogeneity of left-ventricular noncompaction cardiomyopathy
-
Moric-Janiszewska E, Markiewicz-Eoskot G. 2008. Genetic heterogeneity of left-ventricular noncompaction cardiomyopathy. Clin Cardiol 31: 201-204.
-
(2008)
Clin Cardiol
, vol.31
, pp. 201-204
-
-
Moric-Janiszewska, E.1
Markiewicz-Eoskot, G.2
-
28
-
-
0038640140
-
Communicative deficits in agenesis of the corpus callosum: Nonliteral language and affective prosody
-
Paul LK, Van Lancker-Sidtis D, Schieffer B, Dietrich R, Brown WS. 2003. Communicative deficits in agenesis of the corpus callosum: Nonliteral language and affective prosody. Brain Lang 85:313-324.
-
(2003)
Brain Lang
, vol.85
, pp. 313-324
-
-
Paul, L.K.1
Van Lancker-Sidtis, D.2
Schieffer, B.3
Dietrich, R.4
Brown, W.S.5
-
29
-
-
44849139315
-
Young-Simpson syndrome (YSS), a variant of del(1)(p36) syndrome?
-
Robinson DM, Meagher CC, Orlowski CC, Lagoe EC, Fong CT. 2008. Young-Simpson syndrome (YSS), a variant of del(1)(p36) syndrome? Am J Med Genet Part A 146A:1571-1574.
-
(2008)
Am J Med Genet
, vol.146 A
, Issue.PART A
, pp. 1571-1574
-
-
Robinson, D.M.1
Meagher, C.C.2
Orlowski, C.C.3
Lagoe, E.C.4
Fong, C.T.5
-
30
-
-
32944465548
-
Array-CGH detection of micro rearrangements in mentally retarded individuals: Clinical significance of imbalances present both in affected children and normal parents
-
Rosenberg C, Knijnenburg J, Bakker E, Vianna-Morgante A, Sloos WC, Otto PA, Kriek M, Hansson K, Krepisch-Santos AC, Fiegler H, Carter NP, Bijlsma EK, Van Haeringen A, Szuhai K, Tanke HJ. 2006. Array-CGH detection of micro rearrangements in mentally retarded individuals: Clinical significance of imbalances present both in affected children and normal parents. J Med Genet 43:180-186.
-
(2006)
J Med Genet
, vol.43
, pp. 180-186
-
-
Rosenberg, C.1
Knijnenburg, J.2
Bakker, E.3
Vianna-Morgante, A.4
Sloos, W.C.5
Otto, P.A.6
Kriek, M.7
Hansson, K.8
Krepisch-Santos, A.C.9
Fiegler, H.10
Carter, N.P.11
Bijlsma, E.K.12
Van Haeringen, A.13
Szuhai, K.14
Tanke, H.J.15
-
31
-
-
49649108880
-
A new case of proximal monosomy 1p36, extending the phenotype
-
Rudnik-Schoneborn S, Zerres K, Hausler M, Lott A, Krings T, Schuler HM. 2008. A new case of proximal monosomy 1p36, extending the phenotype. Am J Med Genet Part A 146A:2018-2022.
-
(2008)
Am J Med Genet
, vol.146 A
, Issue.PART A
, pp. 2018-2022
-
-
Rudnik-Schoneborn, S.1
Zerres, K.2
Hausler, M.3
Lott, A.4
Krings, T.5
Schuler, H.M.6
-
32
-
-
2942516016
-
Novel gene locus for autosomal dominant left ventricular noncompaction maps to chromosome 11p15
-
Sasse-Klaassen S, Probst S, Gerull B, Oechslin E, Nurnberg P, Heuser A, Jenni R, Hennies HC, Thierfelder L. 2004. Novel gene locus for autosomal dominant left ventricular noncompaction maps to chromosome 11p15. Circulation 109:2720-2723.
-
(2004)
Circulation
, vol.109
, pp. 2720-2723
-
-
Sasse-Klaassen, S.1
Probst, S.2
Gerull, B.3
Oechslin, E.4
Nurnberg, P.5
Heuser, A.6
Jenni, R.7
Hennies, H.C.8
Thierfelder, L.9
-
33
-
-
33748424435
-
Cardiac and clinical phenotype in Barth syndrome
-
Spencer CT, Bryant RM, Day J, Gonzalez IL, Colan SD, Thompson WR, Berthy J, Redfearn SP, Byrne BJ. 2006. Cardiac and clinical phenotype in Barth syndrome. Pediatrics 118:e337-e346.
-
(2006)
Pediatrics
, vol.118
-
-
Spencer, C.T.1
Bryant, R.M.2
Day, J.3
Gonzalez, I.L.4
Colan, S.D.5
Thompson, W.R.6
Berthy, J.7
Redfearn, S.P.8
Byrne, B.J.9
-
34
-
-
11844272650
-
Cardiologic and neurologic findings in left ventricular hypertrabeculation/non-compaction related to wall thickness, size and systolic function
-
Stollberger C, Finsterer J. 2005. Cardiologic and neurologic findings in left ventricular hypertrabeculation/non-compaction related to wall thickness, size and systolic function. Eur J Heart Fail 7:95-97.
-
(2005)
Eur J Heart Fail
, vol.7
, pp. 95-97
-
-
Stollberger, C.1
Finsterer, J.2
-
36
-
-
34249036450
-
Association of electrocardiographic abnormalities with cardiac findings and neuromuscular disorders in left ventricular hypertrabeculation/non-compac- tion
-
Stollberger C, Winkler-Dworak M, Blazek G, Finsterer J. 2007. Association of electrocardiographic abnormalities with cardiac findings and neuromuscular disorders in left ventricular hypertrabeculation/non-compac- tion. Cardiology 107:374-3379.
-
(2007)
Cardiology
, vol.107
, pp. 374-3379
-
-
Stollberger, C.1
Winkler-Dworak, M.2
Blazek, G.3
Finsterer, J.4
-
37
-
-
28444485346
-
A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome
-
Tan TY, Bankier A, Slater HR, Northrop EL, Zacharin M, Savarirayan R. 2005. A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome. Am J Med Genet Part A 139A:216-220.
-
(2005)
Am J Med Genet
, vol.139 A
, Issue.PART A
, pp. 216-220
-
-
Tan, T.Y.1
Bankier, A.2
Slater, H.R.3
Northrop, E.L.4
Zacharin, M.5
Savarirayan, R.6
-
38
-
-
20244383850
-
Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome
-
Childhood Overgrowth Collaboration
-
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 GB, Splitt M, Temple IK, Waggoner D, Weaver DD, Wilson L, Cole T, Cormier-Daire V, Irrthum A, Rahman N, Childhood Overgrowth Collaboration. 2005. Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome. J Med Genet 42:307-313.
-
(2005)
J Med Genet
, vol.42
, 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..
-
39
-
-
34248578027
-
Left- ventricular non-compaction in a patient with monosomy 1p36
-
Thienpont B, Mertens L, Buyse G, Vermeesch JR, Devriendt K. 2007. Left- ventricular non-compaction in a patient with monosomy 1p36. Eur J Med Genet 50:233-236.
-
(2007)
Eur J Med Genet
, vol.50
, pp. 233-236
-
-
Thienpont, B.1
Mertens, L.2
Buyse, G.3
Vermeesch, J.R.4
Devriendt, K.5
-
41
-
-
2142759576
-
Severe pulmonary hypertension secondary to a parachute-like mitral valve, with the left superior caval vein draining into the coronary sinus, in a girl with Turner's syndrome
-
van Heerde M, Hruda J, HazeKamp MG. 2003. Severe pulmonary hypertension secondary to a parachute-like mitral valve, with the left superior caval vein draining into the coronary sinus, in a girl with Turner's syndrome. Cardiol Young 13:364-366.
-
(2003)
Cardiol Young
, vol.13
, pp. 364-366
-
-
van Heerde, M.1
Hruda, J.2
HazeKamp, M.G.3
-
42
-
-
37349092321
-
Isolated left ventricular noncompaction in association with rheumatic mitral stenosis
-
Vijayvergiya R, Jha A, Pandian RP, Sharma R, Grover A. 2008. Isolated left ventricular noncompaction in association with rheumatic mitral stenosis. Int J Cardiol 123:54-56.
-
(2008)
Int J Cardiol
, vol.123
, pp. 54-56
-
-
Vijayvergiya, R.1
Jha, A.2
Pandian, R.P.3
Sharma, R.4
Grover, A.5
-
43
-
-
35948990486
-
Prenatallydiagnosed mosaic trisomy 22 in a fetus with left ventricular non-compaction cardiomyopathy
-
Wang JC, Dang L, Mondal TK, Khan A. 2007. Prenatallydiagnosed mosaic trisomy 22 in a fetus with left ventricular non-compaction cardiomyopathy. Am J Med Genet Part A 143A:2744-2746.
-
(2007)
Am J Med Genet
, vol.143 A
, Issue.PART A
, pp. 2744-2746
-
-
Wang, J.C.1
Dang, L.2
Mondal, T.K.3
Khan, A.4
-
44
-
-
37749050892
-
A new syndrome with non- compaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p
-
Wessels MW, De GraafBM, Cohen-OverbeekTE, Spitaels SE, de Groot-de Laat LE, Ten Cate FJ, Frohn-Mulder IF, de Krijger R, Bartelings MM, Essed N, Wladimiroff JW, Niermeijer MF, Heutink P, Oostra BA, Dooijes D, Bertoli-Avella AM, Willems PJ. 2008. A new syndrome with non- compaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p. Hum Genet 122:595-603.
-
(2008)
Hum Genet
, vol.122
, pp. 595-603
-
-
Wessels, M.W.1
GraafBM, D.2
OverbeekTE, C.3
Spitaels, S.E.4
de Groot-de Laat, L.E.5
Ten Cate, F.J.6
Frohn-Mulder, I.F.7
de Krijger, R.8
Bartelings, M.M.9
Essed, N.10
Wladimiroff, J.W.11
Niermeijer, M.F.12
Heutink, P.13
Oostra, B.A.14
Dooijes, D.15
Bertoli-Avella, A.M.16
Willems, P.J.17
-
46
-
-
44849126424
-
Clinical presentation and genetic analysis of a five generation Chinese family with isolated left ventricular noncompaction
-
Xia S, Wang H, Zhang X, Zhu J, Tang X. 2008. Clinical presentation and genetic analysis of a five generation Chinese family with isolated left ventricular noncompaction. Inter Med 47:577-583.
-
(2008)
Inter Med
, vol.47
, pp. 577-583
-
-
Xia, S.1
Wang, H.2
Zhang, X.3
Zhu, J.4
Tang, X.5
-
47
-
-
33646058879
-
Genetic analysis in patients with left ventricular non- compaction and evidence for genetic heterogeneity
-
Xing Y, Ichida F, Matsuoka T, Isobe T, Ikemoto Y, Higaki T, Tsuji T, Haneda N, Kuwabara A, Chen R, Futatani T, Tsubata S, Watanabe S, Watanabe K, Hirono K, Uese K, Miyawaki T, Bowles KR, Bowles NE, Towbin JA. 2006. Genetic analysis in patients with left ventricular non- compaction and evidence for genetic heterogeneity. Mol Genet Metab 88:71-77.
-
(2006)
Mol Genet Metab
, vol.88
, pp. 71-77
-
-
Xing, Y.1
Ichida, F.2
Matsuoka, T.3
Isobe, T.4
Ikemoto, Y.5
Higaki, T.6
Tsuji, T.7
Haneda, N.8
Kuwabara, A.9
Chen, R.10
Futatani, T.11
Tsubata, S.12
Watanabe, S.13
Watanabe, K.14
Hirono, K.15
Uese, K.16
Miyawaki, T.17
Bowles, K.R.18
Bowles, N.E.19
Towbin, J.A.20
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