-
1
-
-
0000269268
-
Associated noncardiac malformations in children with congenital heart disease
-
Noonan JA, Ehmke DA: Associated noncardiac malformations in children with congenital heart disease. J Pediatr 1963;63:468-470.
-
(1963)
J Pediatr
, vol.63
, pp. 468-470
-
-
Noonan, J.A.1
Ehmke, D.A.2
-
2
-
-
0016067952
-
Delineation of multiple cardiac anomalies associated with the Noonan syndrome in an adult and review of the literature
-
Caralis DG, Char F, Graber JD, Voigt GC: Delineation of multiple cardiac anomalies associated with the Noonan syndrome in an adult and review of the literature. Johns Hopkins Med J 1974;134:346-355.
-
(1974)
Johns Hopkins Med J
, vol.134
, pp. 346-355
-
-
Caralis, D.G.1
Char, F.2
Graber, J.D.3
Voigt, G.C.4
-
3
-
-
0014337521
-
Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease
-
Noonan JA: Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. Am J Dis Child 1968;116:373-380.
-
(1968)
Am J Dis Child
, vol.116
, pp. 373-380
-
-
Noonan, J.A.1
-
4
-
-
0015253763
-
Congenital heart disease in male and female subjects with somatic features of Turner's syndrome and normal sex chromosomes (Ullrich's and related syndromes)
-
Siggers DC, Polani PE: Congenital heart disease in male and female subjects with somatic features of Turner's syndrome and normal sex chromosomes (Ullrich's and related syndromes). Br Heart J 1972;34:41-46.
-
(1972)
Br Heart J
, vol.34
, pp. 41-46
-
-
Siggers, D.C.1
Polani, P.E.2
-
5
-
-
0016016012
-
The Ullrich-Noonan syndrome (Turner phenotype)
-
Nora JJ, Nora AH, Sinha AK, Spangler RD, Lubs HA: The Ullrich-Noonan syndrome (Turner phenotype). Am J Dis Child 1974;127:48-55.
-
(1974)
Am J Dis Child
, vol.127
, pp. 48-55
-
-
Nora, J.J.1
Nora, A.H.2
Sinha, A.K.3
Spangler, R.D.4
Lubs, H.A.5
-
6
-
-
0017383268
-
Cardiovascular anomalies in Noonan's syndrome
-
Pearl W: Cardiovascular anomalies in Noonan's syndrome. Chest 1977;71:677-679. (Pubitemid 8111583)
-
(1977)
Chest
, vol.71
, Issue.5
, pp. 677-679
-
-
Pearl, W.1
-
7
-
-
0018198184
-
Cardiovascular formations in Turner's and Noonan's syndrome
-
Van der Hauwaert LG, Fryns JP, Dumoulin M, Logghe N: Cardiovascular malformations in Turner's and Noonan's syndrome. Br Heart J 1978;40:500-509. (Pubitemid 8341082)
-
(1978)
British Heart Journal
, vol.40
, Issue.5
, pp. 500-509
-
-
Van Der Hauwaert, L.G.1
Fryns, J.P.2
Dumoulin, M.3
Logghe, N.4
-
8
-
-
10144225147
-
Cardiovascular malformations in the syndrome of Turner phenotype with normal karyotype
-
Engle MA, Ehlers KH: Cardiovascular malformations in the syndrome of Turner phenotype with normal karyotype. BD:OAS 1972;8:104-109.
-
(1972)
BD: OAS
, vol.8
, pp. 104-109
-
-
Engle, M.A.1
Ehlers, K.H.2
-
9
-
-
0017407891
-
LES STENOSES PULMONAIRES ATYPIQUES AU COURS DE CERTAINS SYNDROMES POLYMALFORMATIFS. FREQUENCE DE LA MYOCARDIOPATHIE HYPERTROPHIQUE ASSOCIEE
-
Pernot C, Hoeffel JC, Worms AM, Ravault MC, Contet-Audonneau N: Les sténoses pulmonaires atypiques au cours de certains syndromes polymalformatifs: Fréquence de la myocardiopathie hypertrophique associée. Arch Mal Coeur 1977;70:391-398. (Pubitemid 8092916)
-
(1977)
Archives des Maladies du Coeur et des Vaisseaux
, vol.70
, Issue.4
, pp. 391-398
-
-
Pernot, C.1
Hoeffel, J.C.2
Worms, A.M.3
-
10
-
-
0018714842
-
Atypical pulmonary stenosis: Radiological features
-
DOI 10.1016/0002-8703(79)90043-7
-
Hoeffel JC, Ravault MC, Worms AM, Pernot C: Atypical pulmonary stenosis: Radiological features. Am Heart J 1979;98:315-320. (Pubitemid 10217710)
-
(1979)
American Heart Journal
, vol.98
, Issue.3
, pp. 315-320
-
-
Hoeffel, J.C.1
Ravault, M.C.2
Worms, A.M.3
Pernot, C.4
-
11
-
-
0018093188
-
Association of congenital heart disease with syndromes or other defects
-
Noonan JA: Association of congenital heart disease with syndromes or other defects. Pediatr Clin North Am 1978;25:797-816. (Pubitemid 9018825)
-
(1978)
Pediatric Clinics of North America
, vol.25
, Issue.4
, pp. 797-816
-
-
Noonan, J.A.1
-
12
-
-
18444401014
-
Noonan syndrome and related disorders: Genetics and pathogenesis
-
DOI 10.1146/annurev.genom.6.080604.162305
-
Tartaglia M, Gelb BD: Noonan syndrome and related disorders: Genetics and pathogenesis. Ann Rev Genomics Hum Genet 2005;6:45-68. (Pubitemid 41397075)
-
(2005)
Annual Review of Genomics and Human Genetics
, vol.6
, pp. 45-68
-
-
Tartaglia, M.1
Gelb, B.D.2
-
13
-
-
34748857926
-
What's new in the neuro-cardio-facial-cutaneous syndromes?
-
DOI 10.1007/s00431-007-0535-7
-
Denayer E, Legius E: What's new in the neuro-cardio-facial-cutaneous syndromes? Eur J Pediatr 2007;166:1091-1098. (Pubitemid 47476634)
-
(2007)
European Journal of Pediatrics
, vol.166
, Issue.11
, pp. 1091-1098
-
-
Denayer, E.1
Legius, E.2
-
14
-
-
0042329925
-
Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes
-
Sarkozy A, Conti E, Seripa D, Digilio MC, Grifone N, et al: Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. J Med Genet 2003;40:704-708. (Pubitemid 37100705)
-
(2003)
Journal of Medical Genetics
, vol.40
, Issue.9
, pp. 704-708
-
-
Sarkozy, A.1
Conti, E.2
Seripa, D.3
Digilio, M.C.4
Grifone, N.5
Tandoi, C.6
Fazio, V.M.7
Di Ciommo, V.8
Marino, B.9
Pizzuti, A.10
Dallapiccola, B.11
-
15
-
-
0027368288
-
Cardiologic abnormalities in Noonan syndrome: Phenotypic diagnosis and echocardiographic assessment of 118 patients
-
Burch M, Sharland M, Shinebourne E, Smith G, Patton M, McKenna W: Cardiologic abnormalities in Noonan syndrome: phenotypic diagnosis and echocardiographic assessment in 118 patients. J Am Coll Cardiol 1993;22:1189-1192. (Pubitemid 23285775)
-
(1993)
Journal of the American College of Cardiology
, vol.22
, Issue.4
, pp. 1189-1192
-
-
Burch, M.1
Sharland, M.2
Shinebourne, E.3
Smith, G.4
Patton, M.5
McKenna, W.6
-
16
-
-
0033498871
-
Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal
-
Marino B, Digilio MC, Toscano A, Giannotti A, Dallapiccola B: Congenital heart diseases in children with Noonan syndrome: an expanded cardiac spectrum with high prevalence of atrioventricular canal. J Pediatr 1999;135:703-706. (Pubitemid 30180418)
-
(1999)
Journal of Pediatrics
, vol.135
, Issue.6
, pp. 703-706
-
-
Marino, B.1
Digilio, M.C.2
Toscano, A.3
Giannotti, A.4
Dallapiccola, B.5
-
17
-
-
0003280406
-
Genetic and environmental risk factors of major cardiovascular malformations
-
Futura Publishing Company Inc., Armonk, New York
-
Ferencz C, Loffredo CA, Correa-Villasenor A, Wilson PD: Genetic and environmental risk factors of major cardiovascular malformations. The Baltimore-Washington Infant Study 1981-1989 (Futura Publishing Company Inc., Armonk, New York 1997).
-
(1997)
The Baltimore-Washington Infant Study 1981-1989
-
-
Ferencz, C.1
Loffredo, C.A.2
Correa-Villasenor, A.3
Wilson, P.D.4
-
18
-
-
0002845176
-
Spectrum of valvar abnormalities in Noonan's syndrome. A pathologic study
-
Narayanswami S, Kitchiner D, Smith A: Spectrum of valvar abnormalities in Noonan's syndrome. A pathologic study. Cardiol Young 1994;4:62-66.
-
(1994)
Cardiol Young
, vol.4
, pp. 62-66
-
-
Narayanswami, S.1
Kitchiner, D.2
Smith, A.3
-
19
-
-
0014540685
-
Congenital pulmonary stenosis resulting from dysplasia of the valve
-
Koretzki ED, Moller JH, Korus ME, Schwartz CJ, Eduards JE: Congenital pulmonary stenosis resulting from dysplasia of the valve. Circulation 1969;40:43-45.
-
(1969)
Circulation
, vol.40
, pp. 43-45
-
-
Koretzki, E.D.1
Moller, J.H.2
Korus, M.E.3
Schwartz, C.J.4
Eduards, J.E.5
-
20
-
-
84870153605
-
Congenital cardiac malformations and syndromes, in Pierpont MEM, Moller JH (eds)
-
Martinus-Nijoff Publishing, Boston
-
Neill CA: Congenital cardiac malformations and syndromes, in Pierpont MEM, Moller JH (eds): Genetics of Cardiovascular Disease, pp 95-112 (Martinus-Nijoff Publishing, Boston, 1987).
-
(1987)
Genetics of Cardiovascular Disease
, pp. 95-112
-
-
Neill, C.A.1
-
21
-
-
0043180465
-
Nonsyndromic pulmonary valve stenosis and the PTPN11 gene [2]
-
Sarkozy A, Conti E, Esposito G, Pizzuti A, Dallapiccola B, et al: Nonsyndromic pulmonary valve stenosis and the PTPN11 gene. Am J Med Genet A 2003;116:389-390. (Pubitemid 37063597)
-
(2003)
American Journal of Medical Genetics
, vol.116 A
, Issue.4
, pp. 389-390
-
-
Sarkozy, A.1
Conti, E.2
Esposito, G.3
Pizzuti, A.4
Dallapiccola, B.5
Mingarelli, R.6
Marino, B.7
Digilio, M.C.8
Paoletti, V.9
-
22
-
-
0031893693
-
Cardiac disease in Costello syndrome
-
DOI 10.1542/peds.101.4.706
-
Siwik ES, Zahka KG, Wiesner GL, Limwongse C: Cardiac disease in Costello syndrome. Pediatrics 1998;101:706-709. (Pubitemid 28180162)
-
(1998)
Pediatrics
, vol.101
, Issue.4
, pp. 706-709
-
-
Siwik, E.S.1
Zahka, K.G.2
Wiesner, G.L.3
Limwongse, C.4
-
23
-
-
0032426902
-
An infant with Costello syndrome complicated with fatal hypertrophic obstructive cardiomyopathy
-
Tomita H, Fuse S, Ikeda K, Matsuda K, Chiba S: An infant with Costello syndrome complicated by fatal hypertrophic obstructive cardiomyopathy. Acta Paediatr Jap 1998;40:608-611. (Pubitemid 29001941)
-
(1998)
Acta Paediatrica Japonica (Overseas Edition)
, vol.40
, Issue.6
, pp. 608-611
-
-
Tomita, H.1
-
24
-
-
4243248919
-
Further delineation of cardiac abnormalities in Costello syndrome
-
DOI 10.1002/ajmg.10558
-
Lin AE, Grossfeld PD, Hamilton RM, Smoot L, Gripp KW, et al: Further delineation of cardiac abnormalities in Costello syndrome. Am J Med Genet 2002;111:115-129. (Pubitemid 34809491)
-
(2002)
American Journal of Medical Genetics
, vol.111
, Issue.2
, pp. 115-129
-
-
Lin, A.E.1
Grossfeld, P.D.2
Hamilton, R.M.3
Smoot, L.4
Gripp, K.W.5
Proud, V.6
Weksberg, R.7
Wheeler, P.8
Picker, J.9
Irons, M.10
Zackai, E.11
Marino, B.12
Scott Jr., C.I.13
Nicholson, L.14
-
25
-
-
34547651205
-
Prevalence and Clinical Significance of Cardiovascular Abnormalities in Patients With the LEOPARD Syndrome
-
DOI 10.1016/j.amjcard.2007.03.093, PII S000291490700968X
-
Limongelli G, Pacileo G, Marino B, Digilio MC, Sarkozy A, et al: Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome. Am J Cardiol 2007;100:736-741. (Pubitemid 47223154)
-
(2007)
American Journal of Cardiology
, vol.100
, Issue.4
, pp. 736-741
-
-
Limongelli, G.1
Pacileo, G.2
Marino, B.3
Digilio, M.C.4
Sarkozy, A.5
Elliott, P.6
Versacci, P.7
Calabro, P.8
De Zorzi, A.9
Di Salvo, G.10
Syrris, P.11
Patton, M.12
McKenna, W.J.13
Dallapiccola, B.14
Calabro, R.15
-
26
-
-
0028861057
-
Noonan syndrome: Structural abnormalities of the mitral valve causing subaortic obstruction
-
Marino B, Gagliardi MG, Digilio MC, Polletta B, Grazioli S, et al: Noonan syndrome: structural abnormalities of the mitral valve causing subaortic obstruction. Eur J Pediatr 1995;154:949-952.
-
(1995)
Eur J Pediatr
, vol.154
, pp. 949-952
-
-
Marino, B.1
Gagliardi, M.G.2
Digilio, M.C.3
Polletta, B.4
Grazioli, S.5
-
27
-
-
33748964318
-
PTPN11 gene mutations: Linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype"
-
DOI 10.1007/s00431-006-0163-7
-
Digilio MC, Sarkozy A, Pacileo G, Limongelli G, Marino B, Dallapiccola B: PTPN11 gene mutations: linking the Gln510Glu mutation to the 'LEOPARD syndrome phenotype'. Eur J Pediatr 2006;165:803-805. (Pubitemid 44440520)
-
(2006)
European Journal of Pediatrics
, vol.165
, Issue.11
, pp. 803-805
-
-
Digilio, M.C.1
Sarkozy, A.2
Pacileo, G.3
Limongelli, G.4
Marino, B.5
Dallapiccola, B.6
-
28
-
-
33847103768
-
Epidemiology and cause-specific outcome of hypertrophic cardiomyopathy in children. Finding from the pediatric cardiomyopathy registry
-
Colan SD, Lipshultz SE, Lowe AM, Sleeper LA, Messere J, et al: Epidemiology and cause-specific outcome of hypertrophic cardiomyopathy in children. Finding from the pediatric cardiomyopathy registry. Circulation 2007;115:776-781.
-
(2007)
Circulation
, vol.115
, pp. 776-781
-
-
Colan, S.D.1
Lipshultz, S.E.2
Lowe, A.M.3
Sleeper, L.A.4
Messere, J.5
-
29
-
-
0016666603
-
Echocardiographic studies of left ventricular disease in Ullrich-Noonan syndrome
-
Nora JJ, Lortscher RH, Spangler RD: Echocardiographic studies of left ventricular disease in Ullrich-Noonan syndrome. Am J Dis Child 1975;129:1417-1420.
-
(1975)
Am J Dis Child
, vol.129
, pp. 1417-1420
-
-
Nora, J.J.1
Lortscher, R.H.2
Spangler, R.D.3
-
31
-
-
0028969865
-
Unusual combination of congenital heart defects in an infant with Noonan syndrome
-
Feit LR, Hansen K, Oyer CE, Werner JC: Unusual combination of congenital heart defects in an infant with Noonan syndrome. Pediatr Cardiol 1995;16:95-99.
-
(1995)
Pediatr Cardiol
, vol.16
, pp. 95-99
-
-
Feit, L.R.1
Hansen, K.2
Oyer, C.E.3
Werner, J.C.4
-
32
-
-
0032999573
-
Atrioventricular canal defect without Down syndrome: A heterogeneous malformation
-
DOI 10.1002/(SICI)1096-8628(19990716)85:2<140::AID-AJMG8>3.0.CO;2-A
-
Digilio MC, Marino B, Toscano A, Giannotti A, Dallapiccola B: Atrioventricular canal defect without Down syndrome: a heterogeneous malformation. Am J Med Genet 1999;85:140-146. (Pubitemid 29288339)
-
(1999)
American Journal of Medical Genetics
, vol.85
, Issue.2
, pp. 140-146
-
-
Digilio, M.C.1
Marino, B.2
Toscano, A.3
Giannotti, A.4
Dallapiccola, B.5
-
33
-
-
0016711224
-
Rapidly progressive obstructive cardiomyopathy in infants with Noonan's syndrome. Reports of two cases
-
Hirsch HD, Gelband H, Garcia O, Gottlieb S, Tamer DM: Rapidly progressive obstructive cardiomyopathy in infants with Noonan's syndrome. Reports of two cases. Circulation 1975;52:1161-1165.
-
(1975)
Circulation
, vol.52
, pp. 1161-1165
-
-
Hirsch, H.D.1
Gelband, H.2
Garcia, O.3
Gottlieb, S.4
Tamer, D.M.5
-
34
-
-
0025997375
-
Anomalous insertion of papillary muscle directly into anterior mitral leaflet in hypertrophic cardiomyopathy. Significance in producing left ventricular outflow obstruction
-
Klues HG, Roberts WC, Maron BJ: Anomalous insertion of papillary muscle directly into anterior mitral leaflet in hypertrophic cardiomyopathy. Significance in producing left ventricular outflow obstruction. Circulation 1991;84:1188-1197.
-
(1991)
Circulation
, vol.84
, pp. 1188-1197
-
-
Klues, H.G.1
Roberts, W.C.2
Maron, B.J.3
-
35
-
-
0026532927
-
Diversity of structural mitral valve alterations in hypertrophic cardiomyopathy
-
Klues HG, Maron BJ, Dollar AL, Roberts WC: Diversity of structural mitral valve alterations in hypertrophic cardiomyopathy. Circulation 1992;85:1651-1660.
-
(1992)
Circulation
, vol.85
, pp. 1651-1660
-
-
Klues, H.G.1
Maron, B.J.2
Dollar, A.L.3
Roberts, W.C.4
-
36
-
-
0001590320
-
Mechanisms in the pathogenesis of congenital heart defects
-
Pierpont ME, Moller JM eds:, Martinus-Nijoff, Boston
-
Clark EB: Mechanisms in the pathogenesis of congenital heart defects; in Pierpont ME, Moller JM (eds): The Genetics of Cardiovascular Disease, pp 3-11 (Martinus-Nijoff, Boston, 1986).
-
(1986)
The Genetics of Cardiovascular Disease
, pp. 3-11
-
-
Clark, E.B.1
-
37
-
-
33845884026
-
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome
-
DOI 10.1038/ng1939, PII NG1939
-
Tartaglia M, Pennacchio LA, Zhao C, Yadav KK, Fodale V, et al: Gain-offunction SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet 2007;39:75-79. (Pubitemid 46026504)
-
(2007)
Nature Genetics
, vol.39
, Issue.1
, pp. 75-79
-
-
Tartaglia, M.1
Pennacchio, L.A.2
Zhao, C.3
Yadav, K.K.4
Fodale, V.5
Sarkozy, A.6
Pandit, B.7
Oishi, K.8
Martinelli, S.9
Schackwitz, W.10
Ustaszewska, A.11
Martin, J.12
Bristow, J.13
Carta, C.14
Lepri, F.15
Neri, C.16
Vasta, I.17
Gibson, K.18
Curry, C.J.19
Siguero, J.P.L.20
Digilio, M.C.21
Zampino, G.22
Dallapiccola, B.23
Bar-Sagi, D.24
Gelb, B.D.25
more..
-
38
-
-
34249912624
-
The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene
-
Sznajer Y, Keren B, Baumann C, Pereira S, Alberti C, et al: The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene. Pediatrics 2007;119:1325-1331.
-
(2007)
Pediatrics
, vol.119
, pp. 1325-1331
-
-
Sznajer, Y.1
Keren, B.2
Baumann, C.3
Pereira, S.4
Alberti, C.5
-
39
-
-
0029930189
-
Coarctation of the aorta and renal hypoplasia in a boy with Turner-Noonan surface anomalies and a 46, XY karyotype: A clinical model for the possible impairment of a putative lymphogenic gene (s) for Turner somatic stigmata
-
Hasegawa T, Ogata T, Hasegawa Y, Honda M, Nagai T, et al: Coarctation of the aorta and renal hypoplasia in a boy with Turner-Noonan surface anomalies and a 46, XY karyotype: A clinical model for the possible impairment of a putative lymphogenic gene (s) for Turner somatic stigmata. Hum Genet 1996;97:564-567.
-
(1996)
Hum Genet
, vol.97
, pp. 564-567
-
-
Hasegawa, T.1
Ogata, T.2
Hasegawa, Y.3
Honda, M.4
Nagai, T.5
-
40
-
-
0031790484
-
Noonan syndrome and aortic coarctation
-
DOI 10.1002/(SICI)1096-8628(19981102)80:2<160::AID-AJMG13>3.0.CO;2- A
-
Digilio MC, Marino B, Picchio F, Prandstraller D, Toscano A, Giannotti A, Dallapiccola B: Noonan syndrome and aortic coarctation. Am J Med Genet 1998;80:160-162. (Pubitemid 28485697)
-
(1998)
American Journal of Medical Genetics
, vol.80
, Issue.2
, pp. 160-162
-
-
Digilio, M.C.1
Marino, B.2
Picchio, F.3
Prandstraller, D.4
Toscano, A.5
Giannotti, A.6
Dallapiccola, B.7
-
41
-
-
0036888872
-
Noonan syndrome or new autosomal dominant condition with coarctation of the aorta, hypertrophic cardiomyopathy, and minor anomalies
-
DOI 10.1002/ajmg.10782
-
Lemire EG: Noonan syndrome or new autosomal dominant condition with coarctation of the aorta, hypertrophic cardiomyopathy, and minor anomalies. Am J Med Genet 2002;113:286-290. (Pubitemid 35303844)
-
(2002)
American Journal of Medical Genetics
, vol.113
, Issue.3
, pp. 286-290
-
-
Lemire, E.G.1
-
44
-
-
0023513749
-
Aorticroot dilatation in Noonan's syndrome
-
Lin AE, Garver KL, Allanson J: Aorticroot dilatation in Noonan's syndrome. N Engl J Med 1987;317:1668-1669.
-
(1987)
N Engl J Med
, vol.317
, pp. 1668-1669
-
-
Lin, A.E.1
Garver, K.L.2
Allanson, J.3
-
45
-
-
33747144981
-
Aortic root dilatation is a rare complication of Noonan syndrome
-
DOI 10.1007/s00246-006-1210-x
-
Power PD, Lewin MB, Hannibal MC, Glass IA: Aortic root dilatation is a rare complication of Noonan syndrome. Pediatr Cardiol 2006;27:478-480. (Pubitemid 44222403)
-
(2006)
Pediatric Cardiology
, vol.27
, Issue.4
, pp. 478-480
-
-
Power, P.D.1
Lewin, M.B.2
Hannibal, M.C.3
Glass, I.A.4
-
47
-
-
0001899527
-
Noonan syndrome: A review
-
Patton MA: Noonan syndrome: A review. Growth Genet Horm 1994;33:1-3.
-
(1994)
Growth Genet Horm
, vol.33
, pp. 1-3
-
-
Patton, M.A.1
-
49
-
-
18344370436
-
PTPN11 mutations in noonan syndrome: Molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity
-
DOI 10.1086/340847
-
Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, et al: PTPN11 mutations in Noonan syndrome: Molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet 2002;70:1555-1563. (Pubitemid 34533902)
-
(2002)
American Journal of Human Genetics
, vol.70
, Issue.6
, pp. 1555-1563
-
-
Tartaglia, M.1
Kalidas, K.2
Shaw, A.3
Song, X.4
Musat, D.L.5
Van Der Burgt, I.6
Brunner, H.G.7
Bertola, D.R.8
Crosby, A.9
Ion, A.10
Kucherlapati, R.S.11
Jeffery, S.12
Patton, M.A.13
Gelb, B.D.14
-
50
-
-
3042761427
-
Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome
-
Sarkozy A, Conti E, Digilio MC, Marino B, Morini E, et al: Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. J Med Genet 2004;41:e68.
-
(2004)
J Med Genet
, vol.41
-
-
Sarkozy, A.1
Conti, E.2
Digilio, M.C.3
Marino, B.4
Morini, E.5
-
51
-
-
12144286459
-
Genotype-phenotype correlations in Noonan syndrome
-
DOI 10.1016/j.jpeds.2003.11.032
-
Zenker M, Buheitel G, Rauch R, Koenig R, Bosse K, et al: Genotype-phenotype correlations in Noonan syndrome. J Pediatr 2004;144:368-374. (Pubitemid 38333896)
-
(2004)
Journal of Pediatrics
, vol.144
, Issue.3
, pp. 368-374
-
-
Zenker, M.1
Buheitel, G.2
Rauch, R.3
Koenig, R.4
Bosse, K.5
Kress, W.6
Tietze, H.-U.7
Doerr, H.-G.8
Hofbeck, M.9
Singer, H.10
Reis, A.11
Rauch, A.12
-
52
-
-
20144389353
-
Genotypic and phenotypic characterization of Noonan syndrome: New data and review of the literature
-
DOI 10.1002/ajmg.a.30598
-
Jongmans M, Sistermans EA, Rikken A, Nillessen WM, Tamminga R, et al: Genotypic and phenotypic characterization of Noonan syndrome: New data and review of the literature. Am J Med Genet A 2005;134:165-170. (Pubitemid 40446212)
-
(2005)
American Journal of Medical Genetics
, vol.134 A
, Issue.2
, pp. 165-170
-
-
Jongmans, M.1
Sistermans, E.A.2
Rikken, A.3
Nillesen, W.M.4
Tamminga, R.5
Patton, M.6
Maier, E.M.7
Tartaglia, M.8
Noordam, K.9
Van Der Burgt, I.10
-
53
-
-
0037300995
-
Spectrum of mutations in PTPN11 and genotypephenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome
-
Musante L, Kehl HG, Majewski F, Meinecke P, Schweiger S, et al: Spectrum of mutations in PTPN11 and genotypephenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome. Eur J Hum Genet 2002;11:201-206.
-
(2002)
Eur J Hum Genet
, vol.11
, pp. 201-206
-
-
Musante, L.1
Kehl, H.G.2
Majewski, F.3
Meinecke, P.4
Schweiger, S.5
-
54
-
-
84879845942
-
Missense mutations in the PTPN11 as a cause of cardiac defects associated with Noonan syndrome
-
Artman M, Benson DW, Srivastava D, Nakazawa M eds:, Blackwell Futura Publishing, Malden, Massachusetts
-
Kamisago M, Hirayama-Yamad K, Kato T, Imamura S, Joo K, et al: Missense mutations in the PTPN11 as a cause of cardiac defects associated with Noonan syndrome; in Artman M, Benson DW, Srivastava D, Nakazawa M (eds): Cardiovascular Development and Congenital Malformations. Molecular and Genetic Mechanisms, pp 273-276 (Blackwell Futura Publishing, Malden, Massachusetts, 2005).
-
(2005)
Cardiovascular Development and Congenital Malformations. Molecular and Genetic Mechanisms
, pp. 273-276
-
-
Kamisago, M.1
Hirayama-Yamad, K.2
Kato, T.3
Imamura, S.4
Joo, K.5
-
55
-
-
34547530823
-
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
-
DOI 10.1038/ng2073, PII NG2073
-
Pandit B, Sarkozy A, Pennacchio LA, Carta C, Oishi K, et al: Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet 2007;39:1007-1012. (Pubitemid 47185177)
-
(2007)
Nature Genetics
, vol.39
, Issue.8
, pp. 1007-1012
-
-
Pandit, B.1
Sarkozy, A.2
Pennacchio, L.A.3
Carta, C.4
Oishi, K.5
Martinelli, S.6
Pogna, E.A.7
Schackwitz, W.8
Ustaszewska, A.9
Landstrom, A.10
Bos, J.M.11
Ommen, S.R.12
Esposito, G.13
Lepri, F.14
Faul, C.15
Mundel, P.16
Lopez Siguero, J.P.17
Tenconi, R.18
Selicorni, A.19
Rossi, C.20
Mazzanti, L.21
Torrente, I.22
Marino, B.23
Digilio, M.C.24
Zampino, G.25
Ackerman, M.J.26
Dallapiccola, B.27
Tartaglia, M.28
Gelb, B.D.29
more..
-
56
-
-
34547539552
-
Germline gain-of-function mutations in RAF1 cause Noonan syndrome
-
DOI 10.1038/ng2078, PII NG2078
-
Razzaque MA, Nishizawa T, Komoike Y, Yagi H, Furutani M, et al: Germline gain-of-function mutations in RAF1 cause Noonan syndrome. Nat Genet 2007;39:1013-1017. (Pubitemid 47185179)
-
(2007)
Nature Genetics
, vol.39
, Issue.8
, pp. 1013-1017
-
-
Razzaque, M.A.1
Nishizawa, T.2
Komoike, Y.3
Yagi, H.4
Furutani, M.5
Amo, R.6
Kamisago, M.7
Momma, K.8
Katayama, H.9
Nakagawa, M.10
Fujiwara, Y.11
Matsushima, M.12
Mizuno, K.13
Tokuyama, M.14
Hirota, H.15
Muneuchi, J.16
Higashinakagawa, T.17
Matsuoka, R.18
-
57
-
-
0036074033
-
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene
-
DOI 10.1086/341528
-
Digilio MC, Conti E, Sarkozy A, Mingarelli R, Dottorini T, et al: Grouping of Multiple Lentigines/LEOPARD and Noonan syndrome on the PTPN11 gene. Am J Hum Genet 2002;71:389-394. (Pubitemid 34800254)
-
(2002)
American Journal of Human Genetics
, vol.71
, Issue.2
, pp. 389-394
-
-
Digilio, M.C.1
Conti, E.2
Sarkozy, A.3
Mingarelli, R.4
Dottorini, T.5
Marino, B.6
Pizzuti, A.7
Dallapiccola, B.8
-
58
-
-
33646901973
-
LEOPARD syndrome: Clinical diagnosis in the first year of life
-
Digilio MC, Sarkozy A, De Zorzi A, Pacileo G, Limongelli G, et al: LEOPARD syndrome: Clinical diagnosis in the first year of life. Am J Med Genet A 2006;140:740-746.
-
(2006)
Am J Med Genet A
, vol.140
, pp. 740-746
-
-
Digilio, M.C.1
Sarkozy, A.2
De Zorzi, A.3
Pacileo, G.4
Limongelli, G.5
-
59
-
-
0034091647
-
Mice mutant for Egfr and Shp2 have defective cardiac semilunar valvulogenesis
-
DOI 10.1038/73528
-
Chen B, Bronson RT, Klaman RD, Hampton TG, Wang J-F, et al: Mice mutant for Egfr and Shp2 have defective cardiac semilunar valvulogenesis. Nat Genet 2000;24:296-299. (Pubitemid 30132202)
-
(2000)
Nature Genetics
, vol.24
, Issue.3
, pp. 296-299
-
-
Chen, B.1
Bronson, R.T.2
Klaman, L.D.3
Hampton, T.G.4
Wang, J.-F.5
Green, P.J.6
Magnuson, T.7
Douglas, P.S.8
Morgan, J.P.9
Neel, B.G.10
-
60
-
-
0034538594
-
Congenital heart disease and genetic syndromes: Specific correlation between cardiac phenotype and genotype
-
DOI 10.1016/S1054-8807(00)00050-8, PII S1054880700000508
-
Marino B, Digilio MC: Congenital heart disease and genetic syndromes: specific correlation between cardiac phenotype and genotype. Cardiovasc Pathol 2000;9:303-315. (Pubitemid 32012558)
-
(2000)
Cardiovascular Pathology
, vol.9
, Issue.6
, pp. 303-315
-
-
Marino, B.1
Digilio, M.C.2
-
61
-
-
26844438820
-
Noonan syndrome mutation Q79R in Shp2 increases proliferation of valve primordia mesenchymal cells via extracellular signal-regulated kinase 1/2 signaling
-
DOI 10.1161/01.RES.0000186194.06514.b0
-
Krenz M, Yutzey KE, Robbins J: Noonan syndrome mutation Q79R in Shp2 increases proliferation of valve primordia mesenchymal cells via extracellular signal regulated kinase 1/2 signaling. Circ Res 2005;97:813-820. (Pubitemid 41447132)
-
(2005)
Circulation Research
, vol.97
, Issue.8
, pp. 813-820
-
-
Krenz, M.1
Yutzey, K.E.2
Robbins, J.3
-
62
-
-
33845900943
-
Germline gain-of-function mutations in SOS1 cause Noonan syndrome
-
DOI 10.1038/ng1926, PII NG1926
-
Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo TA, et al: Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nat Genet 2007;39:70-74. (Pubitemid 46026503)
-
(2007)
Nature Genetics
, vol.39
, Issue.1
, pp. 70-74
-
-
Roberts, A.E.1
Araki, T.2
Swanson, K.D.3
Montgomery, K.T.4
Schiripo, T.A.5
Joshi, V.A.6
Li, L.7
Yassin, Y.8
Tamburino, A.M.9
Neel, B.G.10
Kucherlapati, R.S.11
-
63
-
-
35348871857
-
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome
-
DOI 10.1136/jmg.2007.051276
-
Zenker M, Horn D, Wieczorek D, Allanson J, Pauli S, et al: SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. J Med Genet 2007;44:651-656. (Pubitemid 47584760)
-
(2007)
Journal of Medical Genetics
, vol.44
, Issue.10
, pp. 651-656
-
-
Zenker, M.1
Horn, D.2
Wieczorek, D.3
Allanson, J.4
Pauli, S.5
Van Der Burgt, I.6
Doerr, H.-G.7
Gaspar, H.8
Hofbeck, M.9
Gillessen-Kaesbach, G.10
Koch, A.11
Meinecke, P.12
Mundlos, S.13
Nowka, A.14
Rauch, A.15
Reif, S.16
Von Schnakenburg, C.17
Seidel, H.18
Wehner, L.-E.19
Zweier, C.20
Bauhuber, S.21
Matejas, V.22
Kratz, C.P.23
Thomas, C.24
Kutsche, K.25
more..
-
64
-
-
33644622238
-
Germline KRAS mutations cause Noonan syndrome
-
Schubbert S, Zenker M, Rowe SL, Boll S, Klein C, et al: Germline KRAS mutations cause Noonan syndrome. Nat Genet 2006;38:331-336.
-
(2006)
Nat Genet
, vol.38
, pp. 331-336
-
-
Schubbert, S.1
Zenker, M.2
Rowe, S.L.3
Boll, S.4
Klein, C.5
-
65
-
-
33745265268
-
Germline missense mutations affecting KRAS isoform B are associated with a severe Noonan syndrome phenotype
-
DOI 10.1086/504394
-
Carta C, Pantaleoni F, Bocchinfuso G, Stella L, Vasta I, et al: Germline missense mutations affecting KRAS isoform B are associated with a severe Noonan syndrome phenotype. Am J Hum Genet 2006;79:129-135. (Pubitemid 43927383)
-
(2006)
American Journal of Human Genetics
, vol.79
, Issue.1
, pp. 129-135
-
-
Carta, C.1
Pantaleoni, F.2
Bocchinfuso, G.3
Stella, L.4
Vasta, I.5
Sarkozy, A.6
Digilio, C.7
Palleschi, A.8
Pizzuti, A.9
Grammatico, P.10
Zampino, G.11
Dallapiccola, B.12
Gelb, B.D.13
Tartaglia, M.14
-
66
-
-
33847248863
-
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations
-
Zenker M, Lehmann K, Schulz AL, Barth H, Hansmann D, et al: Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. J Med Genet 2007;44:131-135.
-
(2007)
J Med Genet
, vol.44
, pp. 131-135
-
-
Zenker, M.1
Lehmann, K.2
Schulz, A.L.3
Barth, H.4
Hansmann, D.5
-
67
-
-
0036340975
-
PTPN11 mutations in LEOPARD syndrome
-
Legius E, Schrander-Stumpel C, Schollen E, Pulles-Heintzberger C, Gewillig M, Fryns JP: PTPN11 mutations in LEOPARD syndrome. J Med Genet 2002;39:571-574. (Pubitemid 34864560)
-
(2002)
Journal of Medical Genetics
, vol.39
, Issue.8
, pp. 571-574
-
-
Legius, E.1
Schrander-Stumpel, C.2
Schollen, E.3
Pulles-Heintzberger, C.4
Gewillig, M.5
Fryns, J.-P.6
-
68
-
-
18844449616
-
PTPN11 mutations in patients with LEOPARD syndrome: A French multicentric experience
-
for the French Collaborative Noonan Study Group
-
Keren B, Hadchouel A, Saba S, Sznajer Y, Bonneau D, et al, for the French Collaborative Noonan Study Group: PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience. J Med Genet 2004;41:e117.
-
(2004)
J Med Genet
, vol.41
-
-
Keren, B.1
Hadchouel, A.2
Saba, S.3
Sznajer, Y.4
Bonneau, D.5
-
69
-
-
7444228490
-
Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome [1]
-
DOI 10.1002/ajmg.a.30281
-
Yoshida R, Nagai T, Hasegawa T, Kinoshita E, Tanaka T, Ogata T: Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome. Am J Med Genet A 2004;130:432-434. (Pubitemid 39441624)
-
(2004)
American Journal of Medical Genetics
, vol.130 A
, Issue.4
, pp. 432-434
-
-
Ogata, T.1
Yoshida, R.2
Nagai, T.3
Hasegawa, T.4
Kinoshita, E.5
Tanaka, T.6
-
70
-
-
31544452561
-
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease
-
DOI 10.1086/499925
-
Tartaglia M, Martinelli S, Stella L, Bocchinfuso G, Flex E, et al: Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. Am J Hum Genet 2006;78:279-290. (Pubitemid 43157567)
-
(2006)
American Journal of Human Genetics
, vol.78
, Issue.2
, pp. 279-290
-
-
Tartaglia, M.1
Martinelli, S.2
Stella, L.3
Bocchinfuso, G.4
Flex, E.5
Cordeddu, V.6
Zampino, G.7
Van Der Burgt, I.8
Palleschi, A.9
Petrucci, T.C.10
Sorcini, M.11
Schoch, C.12
Foa, R.13
Emanuel, P.D.14
Gelb, B.D.15
-
71
-
-
1642464754
-
LEOPARD syndrome: A new polyaneurysm association and an update on the molecular genetics of the disease
-
DOI 10.1016/j.jvs.2003.11.030
-
Yagubyan M, Panneton JM, Lindor NM, Conti E, Sarkozy A, Pizzuti A: LEOPARD syndrome: a new polyaneurism association and an update on the molecular genetics of the disease. J Vasc Surg Apr. 2004;39:897-900. (Pubitemid 38405826)
-
(2004)
Journal of Vascular Surgery
, vol.39
, Issue.4
, pp. 897-900
-
-
Yagubyan, M.1
Panneton, J.M.2
Lindor, N.M.3
Conti, E.4
Sarkozy, A.5
Pizzuti, A.6
-
72
-
-
33748475818
-
Diffuse coronary dilation in a young patient with LEOPARD syndrome
-
DOI 10.1016/j.ijcard.2006.02.037, PII S0167527306004748
-
Pacileo G, Calabrò P, Limongelli G, Santoro G, Digilio MC, Sarkozy A, et al: Diffuse coronary artery dilation in a young patient with LEOPARD syndrome. Int J Cardiol 2006;112:e35-e37. (Pubitemid 44353808)
-
(2006)
International Journal of Cardiology
, vol.112
, Issue.2
-
-
Pacileo, G.1
Calabro, P.2
Limongelli, G.3
Santoro, G.4
Digilio, M.5
Sarkozy, A.6
Marino, B.7
Dallapiccola, B.8
Calabro, R.9
-
73
-
-
33751257771
-
The cardiofacio-cutaneous (CFC) syndrome: A review
-
Roberts A, Allanson J, Jadico SK, Kavamura MI, Noonan J, et al: The cardiofacio-cutaneous (CFC) syndrome: a review. J Med Genet 2006;43:833-842.
-
(2006)
J Med Genet
, vol.43
, pp. 833-842
-
-
Roberts, A.1
Allanson, J.2
Jadico, S.K.3
Kavamura, M.I.4
Noonan, J.5
-
74
-
-
34447332220
-
Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome
-
DOI 10.1002/ajmg.a.31815
-
Gripp KW, Lin AE, Nicholson L, Allen W, Cramer A, et al: Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate Cardio-Facio-Cutaneous syndrome from Costello syndrome. Am J Med Genet A 2007;143:1472-1480. (Pubitemid 47051026)
-
(2007)
American Journal of Medical Genetics, Part A
, vol.143
, Issue.13
, pp. 1472-1480
-
-
Gripp, K.W.1
Lin, A.E.2
Nicholson, L.3
Allen, W.4
Cramer, A.5
Jones, K.L.6
Kutz, W.7
Peck, D.8
Rebolledo, M.A.9
Wheeler, P.G.10
Wilson, W.11
Al-Rahawan, M.M.12
Stabley, D.L.13
Sol-Church, K.14
-
76
-
-
30144439425
-
Costello syndrome
-
Cassidy SB, Allanson JE eds:, ed. 2, John Wiley & Sons, Inc., Hoboken, New Jersey
-
Lin AE, Gripp KW, Kerr B: Costello syndrome; in Cassidy SB, Allanson JE (eds): Management of Genetic Syndromes, ed. 2, pp 151-161 (John Wiley & Sons, Inc., Hoboken, New Jersey 2005).
-
(2005)
Management of Genetic Syndromes
, pp. 151-161
-
-
Lin, A.E.1
Gripp, K.W.2
Kerr, B.3
-
77
-
-
30144433531
-
HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation
-
DOI 10.1002/ajmg.a.31047
-
Gripp KW, Lin AE, Stabley DL, Nicholson L, Scott CI Jr, et al: HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation. Am J Med Genet A 2006;140:1-7. (Pubitemid 43054028)
-
(2006)
American Journal of Medical Genetics
, vol.140 A
, Issue.1
, pp. 1-7
-
-
Gripp, K.W.1
Lin, A.E.2
Stabley, D.L.3
Nicholson, L.4
Scott Jr., C.I.5
Doyle, D.6
Aoki, Y.7
Matsubara, Y.8
Zackai, E.H.9
Lapunzina, P.10
Gonzalez-Meneses, A.11
Holbrook, J.12
Agresta, C.A.13
Gonzalez, I.L.14
Sol-Church, K.15
-
78
-
-
41849141539
-
Costello syndrome: Clinical diagnosis in the first year of life
-
DOI 10.1007/s00431-007-0558-0
-
Digilio MC, Sarkozy A, Capolino R, Chiarini Testa MB, Esposito G, et al: Costello syndrome: clinical diagnosis in the first year of life. Eur J Pediatr 2008;167:621-628. (Pubitemid 351503496)
-
(2008)
European Journal of Pediatrics
, vol.167
, Issue.6
, pp. 621-628
-
-
Digilio, M.C.1
Sarkozy, A.2
Capolino, R.3
Chiarini Testa, M.B.4
Esposito, G.5
De Zorzi, A.6
Cutrera, R.7
Marino, B.8
Dallapiccola, B.9
-
79
-
-
0034645518
-
Cardiovascular malformations and other cardiac abnormalities in neurofibromatosis 1 (NF1)
-
Lin AE, Birch PH, Korf BR, Tenconi R, Niimura M, et al: Cardiovascular malformations and other cardiac abnormalities in neurofibromatosis 1 (NF1). Am J Med Genet 2000;95:108-117.
-
(2000)
Am J Med Genet
, vol.95
, pp. 108-117
-
-
Lin, A.E.1
Birch, P.H.2
Korf, B.R.3
Tenconi, R.4
Niimura, M.5
-
80
-
-
0012376721
-
Cardiovascular disease in neurofibromatosis 1: Report of the NF1 Cardiovascular Task Force
-
DOI 10.1097/00125817-200205000-00002
-
Friedman JM, Arbiser J, Epstein JA, Gutmann DH, Huot SJ, et al: Cardiovascular disease in neurofibromatosis 1: Report of the NF1 Cardiovascular Task Force. Genet Med 2002;4:105-111. (Pubitemid 44698568)
-
(2002)
Genetics in Medicine
, vol.4
, Issue.3
, pp. 105-111
-
-
Friedman, J.M.1
Arbiter, J.2
Epstein, J.A.3
Gutmann, D.H.4
Huot, S.J.5
Lin, A.E.6
McManus, B.7
Korf, B.R.8
-
81
-
-
28144437387
-
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome
-
DOI 10.1086/498454
-
De Luca A, Bottillo I, Sarkozy A, Carta C, Neri C, et al: NF1 gene mutations represent the major molecular event underlying Neurofibromatosis- Noonan syndrome. Am J Hum Genet 2005;77:1092-1101. (Pubitemid 41698528)
-
(2005)
American Journal of Human Genetics
, vol.77
, Issue.6
, pp. 1092-1101
-
-
De Luca, A.1
Bottillo, I.2
Sarkozy, A.3
Carta, C.4
Neri, C.5
Bellacchio, E.6
Schirinzi, A.7
Conti, E.8
Zampino, G.9
Battaglia, A.10
Majore, S.11
Rinaldi, M.M.12
Carella, M.13
Marino, B.14
Pizzuti, A.15
Digilio, M.C.16
Tartaglia, M.17
Dallapiccola, B.18
-
82
-
-
9144227397
-
Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2
-
Venturin M, Guarnieri P, Natacci F, Stabile M, Tenconi R, et al: Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2. J Med Genet 2004;41:35-41. (Pubitemid 38125685)
-
(2004)
Journal of Medical Genetics
, vol.41
, Issue.1
, pp. 35-41
-
-
Venturin, M.1
Guarnieri, P.2
Natacci, F.3
Stabile, M.4
Tenconi, R.5
Clementi, M.6
Hernandez, C.7
Thompson, P.8
Upadhyaya, M.9
Larizza, L.10
Riva, P.11
-
83
-
-
0028349997
-
Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues
-
Brannan CI, Perkins AS, Vogel KS, Ratner N, Nordlund ML, et al: Targeted disruption of the Neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues. Genes Dev 1994;8:1019-1029. (Pubitemid 24145666)
-
(1994)
Genes and Development
, vol.8
, Issue.9
, pp. 1019-1029
-
-
Brannan, C.I.1
Perkins, A.S.2
Vogel, K.S.3
Ratner, N.4
Nordlund, M.L.5
Reid, S.W.6
Buchberg, A.M.7
Jenkins, N.A.8
Parada, L.F.9
Copeland, N.G.10
-
84
-
-
0033670127
-
Insights into the pathogenesis of neurofibromatosis 1 vasculopathy
-
Hamilton SJ, Friedman JM: Insights into the pathogenesis of neurofibromatosis 1 vasculopathy. Clin Genet 2000;58:341-344.
-
(2000)
Clin Genet
, vol.58
, pp. 341-344
-
-
Hamilton, S.J.1
Friedman, J.M.2
|