-
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
-
-
0011095940
-
Über eine flughautähnliche Ausbreitung am Halse
-
Kobylinski O: Über eine flughautähnliche Ausbreitung am Halse. Arch Anthropol 1883;14:342-348.
-
(1883)
Arch Anthropol
, vol.14
, pp. 342-348
-
-
Kobylinski, O.1
-
5
-
-
33847075012
-
The natural history of Noonan syndrome: A long-term followup study
-
Shaw AC, Kalidas K, Crosby AH, Jeffrey S, Patton MA: The natural history of Noonan syndrome: a long-term followup study. Arch Dis Child 2007;92; 128-132.
-
(2007)
Arch Dis Child
, vol.92
, pp. 128-132
-
-
Shaw, A.C.1
Kalidas, K.2
Crosby, A.H.3
Jeffrey, S.4
Patton, M.A.5
-
7
-
-
0012847951
-
The Noonan-syndrome: A clinical study of forty-five cases
-
Char FC, Rodriguez-Fernandez HL, Scott CI, Borgankoar DS, Bell BB, Rowe RD: The Noonan-syndrome: A clinical study of forty-five cases. Birth Defects 1972;8:110-118.
-
(1972)
Birth Defects
, vol.8
, pp. 110-118
-
-
Char, F.C.1
Rodriguez-Fernandez, H.L.2
Scott, C.I.3
Borgankoar, D.S.4
Bell, B.B.5
Rowe, R.D.6
-
8
-
-
0027993959
-
Noonan syndrome: An update and review for the primary pediatrician
-
Noonan JA: Noonan syndrome: Update and review for the primary pediatrician. Clin Pediatr 1994;33:548-555. (Pubitemid 24286203)
-
(1994)
Clinical Pediatrics
, vol.33
, Issue.9
, pp. 548-555
-
-
Noonan, J.A.1
-
9
-
-
3242739935
-
Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome
-
DOI 10.1210/jc.2003-032091
-
Yoshida R, Hasegawa T, Hasegawa Y, Nagai T, Kinoshita E, et al: Proteintyrosine phosphatase, non-receptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome. J Clin Endocrinol Metab 2004;89:3359-3364. (Pubitemid 38951904)
-
(2004)
Journal of Clinical Endocrinology and Metabolism
, vol.89
, Issue.7
, pp. 3359-3364
-
-
Yoshida, R.1
Hasegawa, T.2
Hasegawa, Y.3
Nagai, T.4
Kinoshita, E.5
Tanaka, Y.6
Kanegane, H.7
Ohyama, K.8
Onishi, T.9
Hanew, K.10
Okuyama, T.11
Horikawa, R.12
Tanaka, T.13
Ogata, T.14
-
11
-
-
0021807330
-
Noonan syndrome: The changing phenotype
-
DOI 10.1002/ajmg.1320210313
-
Allanson JE, Hall JG, Hughes HE, Preus M, Witt RD: Noonan syndrome: the changing phenotype. Am J Med Genet 1985;21:507-514. (Pubitemid 15051174)
-
(1985)
American Journal of Medical Genetics
, vol.21
, Issue.3
, pp. 507-514
-
-
Allanson, J.E.1
Hall, J.G.2
Hughes, H.E.3
-
12
-
-
84870203937
-
Noonan syndrome: The changing face
-
Allanson JE: Noonan syndrome: the changing face. Proc Greenwood Genet Ctr 2001;20:78-79.
-
(2001)
Proc Greenwood Genet Ctr
, vol.20
, pp. 78-79
-
-
Allanson, J.E.1
-
13
-
-
0030002352
-
Noonan syndrome: A clinical description emphasizing the cardiac findings
-
Noonan JA, O'Connor W: Noonan syndrome: A clinical description emphasizing the cardiac findings. Acta Paediatr Jpn 1996;38:76-83. (Pubitemid 26123034)
-
(1996)
Acta Paediatrica Japonica (Overseas Edition)
, vol.38
, Issue.1
, pp. 76-83
-
-
Noonan, J.1
O'Connor, W.2
-
14
-
-
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 of 118 patients. J Am Coll Cardiol 1993;22:189-192.
-
(1993)
J Am Coll Cardiol
, vol.22
, pp. 189-192
-
-
Burch, M.1
Sharland, M.2
Shinebourne, E.3
Smith, G.4
Patton, M.5
McKenna, W.6
-
17
-
-
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, Toscana A, et al: 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
-
18
-
-
0029878337
-
Cardiovascular abnormalities in Noonan syndrome: The clinical findings and treatments
-
Ishizawa A, Oho S-I, Dodo H, Katori T, Homma S-I: Cardiovascular abnormalities in Noonan syndrome: the clinical findings and treatments. Acta Paediatr Jpn 1996;38:84-90. (Pubitemid 26123035)
-
(1996)
Acta Paediatrica Japonica (Overseas Edition)
, vol.38
, Issue.1
, pp. 84-90
-
-
Ishizawa, A.1
Oho, S.-I.2
Dodo, H.3
Katori, T.4
Homma, S.-I.5
-
19
-
-
0028861057
-
Noonan syndrome: Structural abnormalities of the mitral valve causing subaortic obstruction
-
Marino B, Digilio MC, Toscana A, Giannotti A, Dallapiccola B: 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
Digilio, M.C.2
Toscana, A.3
Giannotti, A.4
Dallapiccola, B.5
-
20
-
-
0037343346
-
Fibromuscular dysplasia of coronary arteries resulting in myocardial infarction associated with hypertrophic cardiomyopathy in Noonan's syndrome
-
DOI 10.1053/hupa.2003.28
-
Ishikawa Y, Sekiguchi K, Akasaka Y, Ito K, Akishima Y, et al: Fibromuscular dysplasia of coronary arteries resulting in myocardial infarction associated with hypertrophic cardiomyopathy in Noonan's syndrome. Hum Pathol 2003;34:282-284. (Pubitemid 36356682)
-
(2003)
Human Pathology
, vol.34
, Issue.3
, pp. 282-284
-
-
Ishikawa, Y.1
Sekiguchi, K.2
Akasaka, Y.3
Ito, K.4
Akishima, Y.5
Zhang, L.6
Itoh, M.7
Ishihara, M.8
Ishii, T.9
-
21
-
-
22544451258
-
Giant aneurysms of the sinuses of Valsalva and aortic regurgitation in a patient with Noonan's syndrome
-
DOI 10.1016/j.ejcts.2005.05.004, PII S1010794005003921
-
Purnell R, Williams I, Von Oppell U, Wood A: Giant aneurysms of the sinuses of Valsalva and aortic regurgitation in a patient with Noonan's syndrome. Eur J Cardiothorac Surg 2005;28:346-348. (Pubitemid 41020720)
-
(2005)
European Journal of Cardio-thoracic Surgery
, vol.28
, Issue.2
, pp. 346-348
-
-
Purnell, R.1
Williams, I.2
Von Oppell, U.3
Wood, A.4
-
22
-
-
0026685902
-
Myocardial disarray in Noonan syndrome
-
Burch M, Mann JM, Sharland M, Shinebourne EA, Patton MA, McKenna WJ: Myocardial disarray in Noonan syndrome. Br Heart J 1992;68:586-588. (Pubitemid 23001736)
-
(1992)
British Heart Journal
, vol.68
, Issue.6
, pp. 586-588
-
-
Burch, M.1
Mann, J.M.2
Sharland, M.3
Shinebourne, E.A.4
Patton, M.A.5
McKenna, W.J.6
-
23
-
-
0029940955
-
Hypertrophic cardiomyopathy in Noonan syndrome
-
Nishikawa T, Ishiyama S, Shimojo T, Takeda K, Kasjima T, Momma K: Hypertrophic cardiomyopathy in Noonan syndrome. Acta Paediatr Jpn 1996;38:91-98. (Pubitemid 26123036)
-
(1996)
Acta Paediatrica Japonica (Overseas Edition)
, vol.38
, Issue.1
, pp. 91-98
-
-
Nishikawa, T.1
Ishiyama, S.2
Shimojo, T.3
Takeda, K.4
Kasajima, T.5
Momma, K.6
-
24
-
-
0026522604
-
Hypertrophic cardiomyopathy progressing to a dilated cardiomyopathylike feature in Noonan's syndrome
-
Shimizu A, Oku Y, Matsuo K, Hashiba K: Hypertrophic cardiomyopathy progressing to a dilated cardiomyopathylike feature in Noonan's syndrome. Am Heart J 1992;123:814-816.
-
(1992)
Am Heart J
, vol.123
, pp. 814-816
-
-
Shimizu, A.1
Oku, Y.2
Matsuo, K.3
Hashiba, K.4
-
25
-
-
0030067526
-
Restrictive and hypertrophic cardiomyopathies in Noonan syndrome: The overlap syndromes
-
Wilmshurst PT, Katritsis D: Restrictive and hypertrophic cardiomyopathies in Noonan syndrome: the overlap syndromes. Heart 1996;75:94-97. (Pubitemid 26058462)
-
(1996)
Heart
, vol.75
, Issue.1
, pp. 94-97
-
-
Wilmshurst, P.T.1
Katritsis, D.2
-
28
-
-
0033048896
-
Feeding difficulties and foregut dysmotility in Noonan's syndrome
-
Shah N, Rodriguez M, St Louis D, Lindley K, Milla PJ: Feeding difficulties and foregut dysmotility in Noonan syndrome. Arch Dis Child 1999;81:28-31. (Pubitemid 29307452)
-
(1999)
Archives of Disease in Childhood
, vol.81
, Issue.1
, pp. 28-31
-
-
Shah, N.1
Rodriguez, M.2
St. Louis, D.3
Lindley, K.4
Milla, P.J.5
-
29
-
-
0024238928
-
Noonan syndrome: Growth and clinical manifestations in 144 cases
-
DOI 10.1007/BF00441408
-
Ranke MB, Heidemann P, Knupfer C, Enders H, Schmaltz AA, Bierich JR: Noonan syndrome: growth and clinical manifestations in 144 cases. Eur J Pediatr 1988;148:220-227. (Pubitemid 19016143)
-
(1988)
European Journal of Pediatrics
, vol.148
, Issue.3
, pp. 220-227
-
-
Ranke, M.B.1
Heidemann, P.2
Knupfer, C.3
Enders, H.4
Schmaltz, A.A.5
Bierich, J.R.6
-
30
-
-
0022473925
-
Growth curves for height in Noonan syndrome
-
Witt DR, Keena B, Hall JG, Allanson JE: Growth curves for height in Noonan's syndrome. Clin Genet 1986;30:150-153. (Pubitemid 16004743)
-
(1986)
Clinical Genetics
, vol.30
, Issue.3
, pp. 150-153
-
-
Witt, D.R.1
Keena, B.A.2
Hall, J.G.3
Allanson, J.E.4
-
31
-
-
0035131555
-
Growth hormone (GH) secretion in children with Noonan syndrome: Frequently abnormal without consequences for growth or response to GH treatment
-
DOI 10.1046/j.1365-2265.2001.01188.x
-
Noordam C, Van der Burgt I, Sweep CG, Delemarre-Van De Waal HA, Sengers RC, Otten BJ: Growth hormone (GH) secretion in children with Noonan syndrome: frequently abnormal without consequences for growth or GH treatment. Clin Endocrinol 2001;54:53-59. (Pubitemid 32158705)
-
(2001)
Clinical Endocrinology
, vol.54
, Issue.1
, pp. 53-59
-
-
Noordam, C.1
Van Der Burgt, I.2
Sweep, C.G.J.3
Delemarre-Van De Waal, H.A.4
Sengers, R.C.A.5
Otten, B.J.6
-
32
-
-
0036002591
-
The relationship between clinical severity of Noonan's syndrome and growth, growth hormone (GH) secretion and response to GH treatment
-
Noordam K, Van der Burgt I, Brunner HG, Otten BJ: The relationship between clinical severity of Noonan's syndrome and growth, growth hormone (GH) secretion and response to GH. J Pediatr Endocrinol Metab 2002;15:175-180. (Pubitemid 34704791)
-
(2002)
Journal of Pediatric Endocrinology and Metabolism
, vol.15
, Issue.2
, pp. 175-180
-
-
Noordam, K.1
Van Der Burgt, I.2
Brunner, H.G.3
Otten, B.J.4
-
33
-
-
24344436765
-
PTPN11 mutations are associated with mild growth hormone resistance in individuals with noonan syndrome
-
DOI 10.1210/jc.2005-0995
-
Binder G, Neuer K, Ranke MB, Wittekindt NE: PTPN11 mutations are associated with mild GH resistance in individuals with Noonan syndrome. J Clin Endocrinol Metab 2005;90:5377-5381. (Pubitemid 41262304)
-
(2005)
Journal of Clinical Endocrinology and Metabolism
, vol.90
, Issue.9
, pp. 5377-5381
-
-
Binder, G.1
Neuer, K.2
Ranke, M.B.3
Wittekindt, N.E.4
-
34
-
-
0026073598
-
Noonan's syndrome: Abnormalities of the growth hormone IGF-1 axis and the response to treatment with human biosynthetic growth hormone
-
Ahmed ML, Foot AB, Edge JA, Lamkin VA, Savage MO, Dunger DB: Noonan's syndrome: Abnormalities of the growth hormone IGF-1 axis and the response to treatment with human biosynthetic growth hormone. Acta Paediatr Scand 1991;80:446-450.
-
(1991)
Acta Paediatr Scand
, vol.80
, pp. 446-450
-
-
Ahmed, M.L.1
Foot, A.B.2
Edge, J.A.3
Lamkin, V.A.4
Savage, M.O.5
Dunger, D.B.6
-
35
-
-
0035008529
-
Growth hormone therapy and growth in children with Noonan's syndrome: Results of 3 years' follow-up
-
DOI 10.1210/jc.86.5.1953
-
MacFarlane CE, Brown DC, Johnston LB, Patton MA, Dunger DB, et al: Growth hormone therapy and growth in children with Noonan's syndrome: Results of 3 years' follow-up. J Clin Endocrinol Metab 2001;86:1953-1956. (Pubitemid 32472903)
-
(2001)
Journal of Clinical Endocrinology and Metabolism
, vol.86
, Issue.5
, pp. 1953-1956
-
-
MacFarlane, C.E.1
Brown, D.C.2
Johnston, L.B.3
Patton, M.A.4
Dunger, D.B.5
Savage, M.O.6
McKenna, W.J.7
Kelnar, C.J.H.8
-
36
-
-
42449084089
-
Response to growth hormone treatment and final height in Noonan syndrome in a large cohort of patients in the KIGS database
-
Raaijmakers R, Noordam C, K'aragiannis G, Gregory JW, Hertel NT, Sipila I, Otten BJ: Response to growth hormone treatment and final height in Noonan syndrome in a large cohort of patients in the KIGS database. J Pediatr Endocrinol Metab 2008;21:267-273. (Pubitemid 351559864)
-
(2008)
Journal of Pediatric Endocrinology and Metabolism
, vol.21
, Issue.3
, pp. 267-273
-
-
Raaijmakers, R.1
Noordam, C.2
Karagiannis, G.3
Gregory, J.W.4
Hertel, N.T.5
Sipila, I.6
Otten, B.J.7
-
37
-
-
12144291362
-
Clinical evaluation of recombinant human growth hormone in noonan syndrome
-
DOI 10.1507/endocrj.51.61
-
Ogawa M, Moriya N, Ikeda H, Tanae A, Tanaka T, et al: Clinical evaluation of recombinant human growth hormone in Noonan syndrome. Endocr J 2004;51:61-68. (Pubitemid 38405146)
-
(2004)
Endocrine Journal
, vol.51
, Issue.1
, pp. 61-68
-
-
Ogawa, M.1
Moriya, N.2
Ikeda, H.3
Tanae, A.4
Tanaka, T.5
Ohyama, K.6
Mori, O.7
Yazawa, T.8
Fujita, K.9
Seino, Y.10
Kubo, T.11
Tanaka, H.12
Nishi, Y.13
Yoshimoto, M.14
-
39
-
-
0033940279
-
Growth hormone therapy in Noonan syndrome
-
Kelnar C J H: Growth hormone therapy in Noonan syndrome. Horm Res 2000;53(Suppl 1):77-81. (Pubitemid 30481325)
-
(2000)
Hormone Research
, vol.53
, Issue.SUPPL. 1
, pp. 77-81
-
-
Kelnar, C.J.H.1
-
40
-
-
27144487822
-
Improved final height with long-term growth hormone treatment in Noonan syndrome
-
DOI 10.1080/08035250510031476
-
Osio D, Dahlgren J, Wikland KA, Westphal O: Improved final height with long-term growth hormone treatment in Noonan syndrome. Acta Pediatr 2005;94:1232-1237. (Pubitemid 41510618)
-
(2005)
Acta Paediatrica, International Journal of Paediatrics
, vol.94
, Issue.9
, pp. 1232-1237
-
-
Oslo, D.1
Dahlgren, J.2
Wikland, K.A.3
Westphal, O.4
-
41
-
-
24344470070
-
PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) mutations and response to growth hormone therapy in children with Noonan syndrome
-
DOI 10.1210/jc.2004-2559
-
Ferreira LV, Souza SA, Arnhold IJ, Mendonca BB, Jorge AA: PTPN11 (protein tyrosine phosphatase nonreceptor type 11) mutations and response to growth hormone therapy in children with Noonan syndrome. J Clin Endocrinol Metab 2005;90:5156-5160. (Pubitemid 41262268)
-
(2005)
Journal of Clinical Endocrinology and Metabolism
, vol.90
, Issue.9
, pp. 5156-5160
-
-
Ferreira, L.V.1
Souza, S.A.L.2
Arnhold, I.J.P.3
Mendonca, B.B.4
Jorge, A.A.L.5
-
42
-
-
30344444283
-
Noonan syndrome: Relationships between genotype, growth, and growth factors
-
Limal J-M, Parfait B, Cabrol S, Bonnet D, Leheup B, et al: Noonan syndrome: Relationships between genotype, growth, and growth factors. J Clin Endocrinol Metab 2005;91:300-306.
-
(2005)
J Clin Endocrinol Metab
, vol.91
, pp. 300-306
-
-
Limal, J.-M.1
Parfait, B.2
Cabrol, S.3
Bonnet, D.4
Leheup, B.5
-
43
-
-
0033755417
-
Mutation of the SHP-2 binding site in growth hormone (GH) receptor prolongs GH-promoted tyrosyl phosphorylation of GH receptor, JAK2, and STAT5B
-
Stofega MR, Herrington J, Billestrup N, Carter-Su C: Mutation of the SHP-2 binding site in growth hormone (GH) receptor prolongs GH-promoted tyrosyl phosphorylation of GH receptor, JAK2, and STAT5B. Mol Endocrinol 2000;14:1338-1350.
-
(2000)
Mol Endocrinol
, vol.14
, pp. 1338-1350
-
-
Stofega, M.R.1
Herrington, J.2
Billestrup, N.3
Carter-Su, C.4
-
44
-
-
0018563732
-
Noonan's syndrome: IQ and specific disabilities
-
Money J, Kalus ME: Noonan's syndrome: IQ and specific disabilities. Am J Dis Child 1979;133:846-850.
-
(1979)
Am J Dis Child
, vol.133
, pp. 846-850
-
-
Money, J.1
Kalus, M.E.2
-
45
-
-
12744260134
-
Psychological profile of children with Noonan syndrome
-
Lee DA, Portnoy S, Hill P, Gillberg C, Patton MA: Psychological profile of children with Noonan syndrome. Dev Med Child Neurol 2005;47:35-38.
-
(2005)
Dev Med Child Neurol
, vol.47
, pp. 35-38
-
-
Lee, D.A.1
Portnoy, S.2
Hill, P.3
Gillberg, C.4
Patton, M.A.5
-
46
-
-
0030470113
-
Verbal-performance discrepancies in a family with Noonan syndrome [1]
-
DOI 10.1002/(SICI)1096-8628(19961211)66:2<235::AID-AJMG21>3.0.CO;2- T
-
Cornish KM: Verbal-performance discrepancies in a family with Noonan syndrome. Am J Med Genet 1996;66:235-236. (Pubitemid 27002957)
-
(1996)
American Journal of Medical Genetics
, vol.66
, Issue.2
, pp. 235-236
-
-
Cornish, K.M.1
-
47
-
-
0034531687
-
Developmental and behavioural phenotype in Noonan syndrome?
-
Sarimski K: Developmental and behavioural phenotype in Noonan syndrome. Genet Couns 2000;11:383-390. (Pubitemid 32002561)
-
(2000)
Genetic Counseling
, vol.11
, Issue.4
, pp. 383-390
-
-
Sarimski, K.1
-
48
-
-
0033505453
-
Patterns of cognitive functioning in school-aged children with Noonan syndrome associated with variability in phenotypic expression
-
Van der Burgt I, Thoone G, Roosenboom N, Assman-Hulsman C, Gabreels F, et al: Patterns of cognitive functioning in school-aged children with Noonan syndrome associated with variability of phenotypic expression. J Pediatr 1999;135:707-713. (Pubitemid 30180419)
-
(1999)
Journal of Pediatrics
, vol.135
, Issue.6
, pp. 707-713
-
-
Van Der Burgt, I.1
Thoonen, G.2
Roosenboom, N.3
Assman-Hulsmans, C.4
Gabreels, F.5
Otten, B.6
Brunner, H.G.7
-
49
-
-
0028869676
-
Behavioral aspects and psychiatric findings in Noonan's syndrome
-
Wood A, Massarano A, Super M, Harrington R: Behavioral aspects and psychiatric findings in Noonan's syndrome. Arch Dis Child 1995;72:153-155.
-
(1995)
Arch Dis Child
, vol.72
, pp. 153-155
-
-
Wood, A.1
Massarano, A.2
Super, M.3
Harrington, R.4
-
51
-
-
37849007083
-
Noonan syndrome: Psychological and psychiatric aspects
-
Verhoeven W, Wingbermühle E, Egger J, Van der Burgt I, Tuinier S: Noonan syndrome: psychological and psychiatric aspects. Am J Med Genet 2008;146 A: 191-196.
-
(2008)
Am J Med Genet
, vol.146 A
, pp. 191-196
-
-
Verhoeven, W.1
Wingbermühle, E.2
Egger, J.3
Van Der Burgt, I.4
Tuinier, S.5
-
52
-
-
0027089952
-
Ocular manifestations of Noonan syndrome
-
Lee NB, Kelly L, Sharland M: Ocular manifestations of Noonan syndrome. Eye 1992;6:328-334. (Pubitemid 23055180)
-
(1992)
Eye
, vol.6
, Issue.3
, pp. 328-334
-
-
Lee, N.B.1
Kelly, L.2
Sharland, M.3
-
53
-
-
0027204230
-
Noonan's syndrome with keratoconus and optic disc coloboma
-
Ascaso FJ, Del Buey MA, Huerva V, Latre B, Palomar A: Noonan's syndrome with keratoconus and optic disc coloboma. Eur J Ophthalmol 1993;3:101-103. (Pubitemid 23251768)
-
(1993)
European Journal of Ophthalmology
, vol.3
, Issue.2
, pp. 101-103
-
-
Ascaso, F.J.1
Del Buey, M.A.2
Huerva, V.3
Latre, B.4
Palomar, A.5
-
54
-
-
0038682741
-
PTPN11 mutation in a young man with Noonan syndrome and Retinitis Pigmentosa [2]
-
Schollen E, Matthijs G, Fryns JP: PTPN11 mutation in a young man with Noonan syndrome and retinitis pigmentosa. Genet Couns 2003;14:259. (Pubitemid 36827725)
-
(2003)
Genetic Counseling
, vol.14
, Issue.2
, pp. 259
-
-
Schollen, E.1
Matthijs, G.2
Fryns, J.F.3
-
55
-
-
30444456504
-
Anterior uveitis and congenital fibrosis of the extraocular muscles in a patient with Nonan syndrome
-
Elgohary MA, Bradshaw P, Ahmad N: Anterior uveitis and congenital fibrosis of the extraocular muscles in a patient with Noonan syndrome. J Postgrad Med 2005;51:319-321. (Pubitemid 43075891)
-
(2005)
Journal of Postgraduate Medicine
, vol.51
, Issue.4
, pp. 319-321
-
-
Elgohary, M.A.1
Bradshaw, P.2
Ahmad, N.3
-
56
-
-
0030973328
-
Spontaneous corneal rupture in Noonan syndrome. A case report
-
Au YK, Collins WP, Patel JS, Asamoah A: Spontaneous corneal rupture in Noonan syndrome. A case report. Ophthalmic Genet 1997;18:39-41. (Pubitemid 27222913)
-
(1997)
Ophthalmic Genetics
, vol.18
, Issue.1
, pp. 39-41
-
-
Au, Y.-K.1
Collins, W.P.2
Patel, J.S.3
Asamoah, A.4
-
59
-
-
0031018441
-
Multiple temporal bone anomalies associated with Noonan syndrome
-
DOI 10.1016/S0194-5998(97)70339-5
-
Naficy S, Shepard NT, Telian SA: Multiple temporal bone anomalies associated with Noonan syndrome. Otolaryngol Head Neck Surg 1997;116:265-267. (Pubitemid 27097559)
-
(1997)
Otolaryngology - Head and Neck Surgery
, vol.116
, Issue.2
, pp. 265-267
-
-
Naficy, S.1
Shepard, N.T.2
Telian, S.A.3
-
60
-
-
0026700970
-
King syndrome: A genetically heterogeneous phenotype due to congenital myopathies
-
Chitayat D, Hodgkinson KA, Ginsburg O, Dimmick J, Watters GV: King syndrome: a genetically heterogeneous phenotype due to congenital myopathies. Am J Med Genet 1992;43:954-956.
-
(1992)
Am J Med Genet
, vol.43
, pp. 954-956
-
-
Chitayat, D.1
Hodgkinson, K.A.2
Ginsburg, O.3
Dimmick, J.4
Watters, G.V.5
-
61
-
-
0016636150
-
An evaluation of the possible association of malignant hyperpyrexia with Noonan syndrome using serum creatine phosphokinase levels
-
Hunter A, Pinsky L: An evaluation of the possible association of malignant hyperpyrexia with Noonan syndrome using serum creatine phosphokinase levels. J Pediatr 1975;96:412-415.
-
(1975)
J Pediatr
, vol.96
, pp. 412-415
-
-
Hunter, A.1
Pinsky, L.2
-
62
-
-
0015907135
-
Anestheticinduced malignant hyperpyrexia in children
-
King JO, Denborough MA: Anestheticinduced malignant hyperpyrexia in children. J Pediatr 1973;83:37-40.
-
(1973)
J Pediatr
, vol.83
, pp. 37-40
-
-
King, J.O.1
Denborough, M.A.2
-
64
-
-
0023147198
-
King's syndrome with malignant hyperthermia
-
Steenson AJ, Torkelson RD: King's syndrome with malignant hyperthermia. Am J Dis Child 1987;141:271-273.
-
(1987)
Am J Dis Child
, vol.141
, pp. 271-273
-
-
Steenson, A.J.1
Torkelson, R.D.2
-
66
-
-
0027425214
-
Multiple central giant cell lesions with a Noonan-like phenotype
-
DOI 10.1016/0030-4220(93)90069-G
-
Betts NJ, Stewart JC, Fonseca RJ, Scott RF: Multiple central giant cell lesions in a Noonan-like phenotype. Oral Surg Oral Med Oral Pathol 1993;76:601-607. (Pubitemid 23347013)
-
(1993)
Oral Surgery Oral Medicine and Oral Pathology
, vol.76
, Issue.5
, pp. 601-607
-
-
Betts, N.J.1
Stewart, J.C.B.2
Fonseca, R.J.3
Scott, R.F.4
-
67
-
-
0022455153
-
Central giant cell lesions of the jaws: A clinicopathologic study
-
Chuong R, Kaban LB, Kozakewich H, Perez-Atayde A: Central giant cell lesions of the jaws: a clinicopathologic study. J Oral Maxillofac Surg 1986;44:708-713. (Pubitemid 16054060)
-
(1986)
Journal of Oral and Maxillofacial Surgery
, vol.44
, Issue.9
, pp. 708-713
-
-
Chuong, R.1
Kaban, L.B.2
Kozakewich, H.3
Perez-Atayde, A.4
-
68
-
-
0024407271
-
The Noonan syndrome/cherubism association
-
Dunlap C, Neville B, Vickers RA, O'Neil D, Barker B: The Noonan syndrome/cherubism association. Oral Surg Oral Med Oral Pathol 1989;67:698-705. (Pubitemid 19163765)
-
(1989)
Oral Surgery Oral Medicine and Oral Pathology
, vol.67
, Issue.6
, pp. 698-705
-
-
Dunlap, C.1
Neville, B.2
Vickers, R.A.3
O'Neil, D.4
Barker, B.5
-
69
-
-
0020107839
-
CHERUBISMUS - EINE OSTEOFIBROSE KIEFERERKRANKUNG IM KINDESALTER
-
Hoyer PF, Neukam FW: Cherubismus - eine osteofibröse Kiefererkrankung im Kindesalter. Klin Paediatr 1982;194:128-131. (Pubitemid 12123859)
-
(1982)
Klinische Padiatrie
, vol.194
, Issue.2
, pp. 128-131
-
-
Hoyer, P.F.1
Neukam, F.W.2
-
70
-
-
0028355527
-
Orthognathic surgery in a patient with Noonan's syndrome
-
Sugar AW, Ezsias A, Bloom AL, Morcos WE: Orthognathic surgery in a patient with Noonan's syndrome. J Oral Maxillofac Surg 1994;52:421-425. (Pubitemid 24119423)
-
(1994)
Journal of Oral and Maxillofacial Surgery
, vol.52
, Issue.4
, pp. 421-425
-
-
Sugar, A.W.1
Ezsias, A.2
Bloom, A.L.3
Morcos, W.E.4
-
72
-
-
0033362150
-
The gene for cherubism maps to chromosome 4p16.3
-
DOI 10.1086/302454
-
Mangion J, Rahman N, Edkins S, Barfoot R, Nguyen T, et al: The gene for cherubism maps to chromosome 4p16.3. Am J Hum Genet 1999;65:151-157. (Pubitemid 30470459)
-
(1999)
American Journal of Human Genetics
, vol.65
, Issue.1
, pp. 151-157
-
-
Mangion, J.1
Rahman, N.2
Edkins, S.3
Barfoot, R.4
Nguyen, T.5
Sigurdsson, A.6
Townend, J.V.7
Fitzpatrick, D.R.8
Flanagan, A.M.9
Stratton, M.R.10
-
73
-
-
22244487321
-
Noonan-like syndrome mutations in PTPN11 in patients diagnosed with cherubism [5]
-
DOI 10.1111/j.1399-0004.2005.00475.x
-
Jafarov T, Ferimazova N, Reichenberger E: Noonan-like syndrome mutations in PTPN11 in patients diagnosed with cherubism. Clin Genet 2005;68:190-191. (Pubitemid 40990635)
-
(2005)
Clinical Genetics
, vol.68
, Issue.2
, pp. 190-191
-
-
Jafarov, T.1
Ferimazova, N.2
Reichenberger, E.3
-
74
-
-
33745907799
-
Noonan-like/multiple giant cell lesion syndrome: Report of a case and review of the literature
-
DOI 10.1016/j.joms.2006.04.025, PII S027823910600557X
-
Wolvius EB, De Lange J, Smeets E E J, Van der Wal K G H, Van Den Akker HP: Noonan-like/multiple giant cell lesion syndrome: Report of a case and review of the literature. J Oral Maxillofac Surg 2006;64:1289-1292. (Pubitemid 44051766)
-
(2006)
Journal of Oral and Maxillofacial Surgery
, vol.64
, Issue.8
, pp. 1289-1292
-
-
Wolvius, E.B.1
De Lange, J.2
Smeets, E.E.J.3
Van Der Wal, K.G.H.4
Van Den Akker, H.P.5
-
75
-
-
84870154793
-
Communicating hydrocephalus in Noonan syndrome: A consequence of lymphatic dysplasia?
-
Clericuzio CL, Roberts A, Kucherlapati RS, Tworog-Dube E, Allanson JE: Communicating hydrocephalus in Noonan syndrome: A consequence of lymphatic dysplasia? Proc Greenwood Gen Ctr 2008;27:81.
-
(2008)
Proc Greenwood Gen Ctr
, vol.27
, pp. 81
-
-
Clericuzio, C.L.1
Roberts, A.2
Kucherlapati, R.S.3
Tworog-Dube, E.4
Allanson, J.E.5
-
76
-
-
0031253943
-
Progressive hydrocephalus in Noonan syndrome
-
Fryns JP: Progressive hydrocephalus in Noonan syndrome. Clin Dysmorphol 1997;6:379.
-
(1997)
Clin Dysmorphol
, vol.6
, pp. 379
-
-
Fryns, J.P.1
-
77
-
-
0030888649
-
Progressive hydrocephalus in two members of a family with autosomal dominant Noonan phenotype
-
Henn W, Reichert H, Nienhaus Z, Zankl M, Lindinger A, et al: Progressive hydrocephalus in two members of a family with autosomal dominant Noonan phenotype. Clin Dysmorphol 1997;6:153-156. (Pubitemid 27179698)
-
(1997)
Clinical Dysmorphology
, vol.6
, Issue.2
, pp. 153-156
-
-
Henn, W.1
Reichert, H.2
Nienhaus, H.3
Zankl, M.4
Lindinger, A.5
Hoffmann, W.6
Zang, K.D.7
-
78
-
-
0029089257
-
Noonan's syndrome with hydrocephalus, hindbrain herniation, and upper cervical intracord cyst
-
Heye N, Dunne JW: Noonan's syndrome with hydrocephalus, hindbrain herniation, and upper cervical intracord cyst. J Neurol Neurosurg Psychiatry 1995;59:338-339.
-
(1995)
J Neurol Neurosurg Psychiatry
, vol.59
, pp. 338-339
-
-
Heye, N.1
Dunne, J.W.2
-
79
-
-
33645820117
-
The olfactory route for cerebrospinal fluid drainage into the peripheral lymphatic system
-
DOI 10.1111/j.1365-2990.2006.00737.x
-
Walter BA, Valera VA, Takahashi S, Ushiki T: The olfactory route for cerebrospinal fluid drainage into the peripheral nervous system. Neuropathol Appl Neurobiol 2006;32:388-396. (Pubitemid 44015580)
-
(2006)
Neuropathology and Applied Neurobiology
, vol.32
, Issue.4
, pp. 388-396
-
-
Walter, B.A.1
Valera, V.A.2
Takahashi, S.3
Ushiki, T.4
-
80
-
-
0019946801
-
Chiari (type 1) malformation and syringomyelia in a patient with Noonan's syndrome
-
Ball MJ, Peiris A: Chiari (type I) malformation and syringomyelia in a patient with Noonan's syndrome. J Neurol Neurosurg Psychiatry 1982;45:753-754. (Pubitemid 12039883)
-
(1982)
Journal of Neurology Neurosurgery and Psychiatry
, vol.45
, Issue.8
, pp. 753-754
-
-
Ball, M.J.1
Peiris, A.2
-
81
-
-
0142012139
-
Type 1 Arnold-Chiari malformation and Noonan syndrome. A new diagnostic feature?
-
DOI 10.1097/00019605-200310000-00013
-
Holder-Espinasse M, Winter RM: Type 1 Arnold-Chiari malformation and Noonan syndrome. A new diagnostic feature. Clin Dysmorphol 2003;12:275. (Pubitemid 37267195)
-
(2003)
Clinical Dysmorphology
, vol.12
, Issue.4
, pp. 275
-
-
Holder-Espinasse, M.1
Winter, R.M.2
-
83
-
-
0027500062
-
Noonan phenotype associated with intracerebral hemorrhage and cerebral vascular anomalies: Case report
-
DOI 10.1016/0090-3019(93)90106-B
-
Hara T, Sasaki T, Miyauchi H, Takakura K: Noonan phenotype associated with intracerebral hemorrhage and cerebral vascular anomalies: Case report. Surg Neurol 1993;39:31-36. (Pubitemid 23053987)
-
(1993)
Surgical Neurology
, vol.39
, Issue.1
, pp. 31-36
-
-
Hara, T.1
Sasaki, T.2
Miyauchi, H.3
Takakura, K.4
-
84
-
-
0027992988
-
Thromboembolic infarcts occurring after mild traumatic brain injury in a paediatric patient with Noonan's syndrome
-
Hinnant CA: Thromboembolic infarcts occurring after mild traumatic brain injury in a paediatric patient with Noonan's syndrome. Brain Injury 1994;8:719-727. (Pubitemid 24353194)
-
(1994)
Brain Injury
, vol.8
, Issue.8
, pp. 719-727
-
-
Hinnant, C.A.1
-
85
-
-
0029652826
-
Noonan syndrome associated with thromboembolic brain infarcts and posterior circulation abnormalities
-
Hinnant CA: Noonan syndrome associated with thromboembolic brain infarcts and posterior circulation abnormalities. Am J Med Genet 1995;56:241-244.
-
(1995)
Am J Med Genet
, vol.56
, pp. 241-244
-
-
Hinnant, C.A.1
-
86
-
-
0030985983
-
Cerebral infarction in Noonan syndrome
-
DOI 10.1002/(SICI)1096-8628(19970711)71:1<111::AID-AJMG20>3.0.CO;2- O
-
Robertson S, Tsang B, Aftimos S: Cerebral infarction in Noonan syndrome. Am J Med Genet 1997;71:111-114. (Pubitemid 27276709)
-
(1997)
American Journal of Medical Genetics
, vol.71
, Issue.1
, pp. 111-114
-
-
Robertson, S.1
Tsang, B.2
Aftimos, S.3
-
87
-
-
0026567389
-
Cerebral arteriovenous malformation in Noonan's syndrome
-
Schon F, Bowler J, Baraitser M: Cerebral arteriovenous malformation in Noonan's syndrome. Postgrad Med J 1992;68:37-40.
-
(1992)
Postgrad Med J
, vol.68
, pp. 37-40
-
-
Schon, F.1
Bowler, J.2
Baraitser, M.3
-
88
-
-
0033613902
-
Noonan syndrome and cavernous hemangioma of the brain
-
DOI 10.1002/(SICI)1096-8628(19990129)82:3<212::AID-AJMG3>3.0.CO;2-4
-
Tanaka Y, Masuno M, Iwamoto H, Aida N, Ijiri R, et al: Noonan syndrome and cavernous hemangioma of the brain. Am J Med Genet 1999;82:212-214. (Pubitemid 29078806)
-
(1999)
American Journal of Medical Genetics
, vol.82
, Issue.3
, pp. 212-214
-
-
Tanaka, Y.1
Masuno, M.2
Iwamoto, H.3
Aida, N.4
Ijiri, R.5
Yamanaka, S.6
Imaizumi, K.7
Kuroki, Y.8
-
89
-
-
0027217046
-
Abdominal ultrasound in Noonan syndrome: A study of 44 patients
-
George CD, Patton MA, El Sawi M, Sharland M, Adam EJ: Abdominal ultrasound in Noonan syndrome: A study of 44 patients. Pediatr Radiol 1993;23:316-318. (Pubitemid 23256311)
-
(1993)
Pediatric Radiology
, vol.23
, Issue.4
, pp. 316-318
-
-
George, C.D.1
Patton, M.A.2
El Sawi, M.3
Sharland, M.4
Adam, E.J.5
-
90
-
-
0028334369
-
Genital tract function in men with Noonan syndrome
-
Elsawi MM, Pryor JP, Klufio G, Barnes C, Patton MA: Genital tract function in men with Noonan syndrome. J Med Genet 1994;31:468-470. (Pubitemid 24182940)
-
(1994)
Journal of Medical Genetics
, vol.31
, Issue.6
, pp. 468-470
-
-
Elsawi, M.M.1
Pryor, J.P.2
Klufio, G.3
Barnes, C.4
Patton, M.A.5
-
92
-
-
0018581901
-
Keratosis pilaris atrophicans faciei (ulerythema ophryogenes): A cutaneous marker in the Noonan syndrome
-
DOI 10.1111/j.1365-2133.1979.tb01641.x
-
Pierini DO, Pierini AM: Keratosis pilaris atrophicans faciei (ulerythema ophryogenes): A cutaneous marker in the Noonan's syndrome. Br J Dermatol 1979;100:409-416. (Pubitemid 9251078)
-
(1979)
British Journal of Dermatology
, vol.100
, Issue.4
, pp. 409-416
-
-
Pierini, D.O.1
Pierini, A.M.2
-
93
-
-
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..
-
94
-
-
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 M, 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 (CFC) 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..
-
95
-
-
0033807058
-
Multiple cutaneous granular cell tumours in a patient with Noonan syndrome
-
Lohmann DR, Gillessen-Kaesbach G: Multiple cutaneous granular cell tumours in a patient with Noonan syndrome. Clin Dysmorphol 2001;19:301-302.
-
(2001)
Clin Dysmorphol
, vol.19
, pp. 301-302
-
-
Lohmann, D.R.1
Gillessen-Kaesbach, G.2
-
97
-
-
0023229575
-
Lymphedema in Noonan syndrome: Clues to pathogenesis and prenatal diagnosis and review of the literature
-
DOI 10.1002/ajmg.1320270412
-
Witt DR, Hoyme HE, Zonana J, Manchester DK, Fryns JP, et al: Lymphedema in Noonan syndrome: Clues to pathogenesis and premature diagnosis and review of the literature. Am J Med Genet 1987;27:841-856. (Pubitemid 17151149)
-
(1987)
American Journal of Medical Genetics
, vol.27
, Issue.4
, pp. 841-856
-
-
Witt, D.R.1
Hoyme, H.E.2
Zonana, J.3
Manchester, D.K.4
Fryns, J.P.5
Stevenson, J.G.6
Curry, C.J.R.7
Hall, J.G.8
-
98
-
-
0030981276
-
Lymphatic dysplasia in a neonate with Noonan's syndrome
-
DOI 10.1007/s002470050139
-
Bloomfield FH, Hadden W, Gunn TR: Lymphatic dysplasia in a neonate with Noonan's syndrome. Pediatr Radiol 1997;27:321-323. (Pubitemid 27174305)
-
(1997)
Pediatric Radiology
, vol.27
, Issue.4
, pp. 321-323
-
-
Bloomfield, F.H.1
Hadden, W.2
Gunn, T.R.3
-
99
-
-
0026022398
-
Cutaneous lymphangioma and amegakaryocytic thrombocytopenia in Noonan syndrome
-
Evans DG, Lonsdale RN, Patton MA: Cutaneous lymphangioma and amegakaryocytic thrombocytopenia in Noonan syndrome. Clin Genet 1991;39:228-232.
-
(1991)
Clin Genet
, vol.39
, pp. 228-232
-
-
Evans, D.G.1
Lonsdale, R.N.2
Patton, M.A.3
-
100
-
-
0026548386
-
Coagulation-factor deficiencies and abnormal bleeding in Noonan's syndrome
-
Sharland M, Patton MA, Talbot S, Chitolie A, Bevan DH: Coagulation-factor deficiencies and abnormal bleeding in Noonan's syndrome. Lancet 1992;339:19-21.
-
(1992)
Lancet
, vol.339
, pp. 19-21
-
-
Sharland, M.1
Patton, M.A.2
Talbot, S.3
Chitolie, A.4
Bevan, D.H.5
-
101
-
-
0023743203
-
Bleeding diathesis in Noonan syndrome: A common association
-
Witt DR, McGillivray BC, Allanson JE, Hughes HE, Hathaway WE, et al: Bleeding diathesis in Noonan syndrome: a common association. Am J Med Genet 1988;31:305-317.
-
(1988)
Am J Med Genet
, vol.31
, pp. 305-317
-
-
Witt, D.R.1
McGillivray, B.C.2
Allanson, J.E.3
Hughes, H.E.4
Hathaway, W.E.5
-
102
-
-
0023873199
-
Noonan syndrome: Partial factor XI deficiency
-
De Haan M, Van der Kamp J J P, Briet E, Dubbeldam J: Noonan syndrome: partial factor XI deficiency. Am J Med Genet 1988;29:277-282. (Pubitemid 18068250)
-
(1988)
American Journal of Medical Genetics
, vol.29
, Issue.2
, pp. 277-282
-
-
De Haan, M.1
Kamp, V.D.J.J.P.2
Briet, E.3
Dubbeldam, J.4
-
104
-
-
0020682231
-
Partial deficiency of coagulation factor XI as a newly recognized feature of Noonan syndrome
-
DOI 10.1016/S0022-3476(83)80525-3
-
Kitchens CS, Alexander JA: Partial deficiency of coagulation factor XI as a newly recognized feature of Noonan syndrome. J Pediatr 1983;102:224-227. (Pubitemid 13194703)
-
(1983)
Journal of Pediatrics
, vol.102
, Issue.2
, pp. 224-227
-
-
Kitchens, C.S.1
Alexander, J.A.2
-
105
-
-
0029908663
-
Noonan syndrome: Coagulation and clinical aspects
-
Massarano A, Wood A, Tait RC, Stevens R, Super M: Noonan syndrome: Coagulation and clinical aspects. Acta Paediatr 1996;85:1181-1185. (Pubitemid 26346012)
-
(1996)
Acta Paediatrica, International Journal of Paediatrics
, vol.85
, Issue.10
, pp. 1181-1185
-
-
Massarano, A.A.1
Wood, A.2
Tait, R.C.3
Stevens, R.4
Super, M.5
-
106
-
-
0030943585
-
Bleeding disorders in noonan syndrome: Three case reports and review of the literature
-
DOI 10.1097/00043426-199703000-00006
-
Singer ST, Hurst D, Addiego JE Jr: Bleeding disorders in Noonan syndrome: three case reports and review of the literature. J Pediatr Hematol Oncol 1997;19:130-134. (Pubitemid 27200555)
-
(1997)
Journal of Pediatric Hematology/Oncology
, vol.19
, Issue.2
, pp. 130-134
-
-
Singer, S.T.1
Hurst, D.2
Addiego Jr., J.E.3
-
108
-
-
0017170020
-
Congenital stem cell dysfunction associated with Turnerlike phenotype
-
Feldman KW, Ochs HD, Price TH, Wedgwood RJ: Congenital stem cell dysfunction associated with Turnerlike phenotype. J Pediatr 1976;88:979-998.
-
(1976)
J Pediatr
, vol.88
, pp. 979-998
-
-
Feldman, K.W.1
Ochs, H.D.2
Price, T.H.3
Wedgwood, R.J.4
-
109
-
-
0021873186
-
Multiple dysmorphic features and pancytopenia: A new syndrome?
-
Sackey K, Sakati N, Aur R J A, Shebib S, Sabbah RS, Rifai S: Multiple dysmorphic features and pancytopenia: a new syndrome? Clin Genet 1985;27:606-610. (Pubitemid 15067905)
-
(1985)
Clinical Genetics
, vol.27
, Issue.6
, pp. 606-610
-
-
Sackey, K.1
Sakati, N.2
Aur, R.J.A.3
-
112
-
-
0027198793
-
Acute lymphoblastic leukemia in Noonan Syndrome: Report of two cases
-
Piombo M, Rosana C, Pasino M, Marasini M, Cerruti P, Comelli A: Acute lymphoblastic leukemia in Noonan syndrome: report of two cases. Med Pediatr Oncol 1993;21:454-455. (Pubitemid 23202825)
-
(1993)
Medical and Pediatric Oncology
, vol.21
, Issue.6
, pp. 454-455
-
-
Piombo, M.1
Rosanda, C.2
Pasino, M.3
Marasini, M.4
Cerruti, P.5
Comelli, A.6
-
113
-
-
33645823187
-
Acute lymphoblastic leukaemia in Noonan syndrome
-
Roti G, La Starza R, Ballanti S, Crescenzi B, Romoli S, et al: Acute lymphoblastic leukaemia in Noonan syndrome. Br J Haematol 2006;133:448-450.
-
(2006)
Br J Haematol
, vol.133
, pp. 448-450
-
-
Roti, G.1
La Starza, R.2
Ballanti, S.3
Crescenzi, B.4
Romoli, S.5
-
114
-
-
0030712155
-
Occurrence of myeloproliferative disorder in patients with Noonan syndrome
-
DOI 10.1016/S0022-3476(97)70273-7
-
Bader-Meunier B, Tchernia G, Mielot F, Fontaine JL, Thomas C, et al: Occurrence of myeloproliferative disorder in patients with Noonan syndrome. J Pediatr 1997;130:885-889. (Pubitemid 27495115)
-
(1997)
Journal of Pediatrics
, vol.130
, Issue.6
, pp. 885-889
-
-
Bader-Meunier, B.1
Tchernia, G.2
Mielot, F.3
Fontaine, J.L.4
Thomas, C.5
Lyonnet, S.6
Lavergne, J.M.7
Dommergues, J.P.8
-
115
-
-
0031086478
-
Spontaneous remission of juvenile chronic myelomonocytic leukemia in an infant with Noonan syndrome
-
Fukuda M, Horibe K, Miyajima Y, Matsumoto K, Nagashima M: Spontaneous remission of juvenile chronic myelomonocytic leukemia in an infant with Noonan syndrome. J Pediatr Hematol Oncol 1997;19:177-178.
-
(1997)
J Pediatr Hematol Oncol
, vol.19
, pp. 177-178
-
-
Fukuda, M.1
Horibe, K.2
Miyajima, Y.3
Matsumoto, K.4
Nagashima, M.5
-
116
-
-
32044474645
-
Lethal proliferation of erythroid precursors in a neonate with a germline PTPN11 mutation
-
DOI 10.1007/s00431-005-0031-x
-
Kratz CP, Nathrath M, Freisinger P, Dressel P, Assmuss H-P, et al: Lethal proliferation of erythroid precursors in a neonate with a germline PTPN11 mutation. Eur J Pediatr 2006;165:182-185. (Pubitemid 43199158)
-
(2006)
European Journal of Pediatrics
, vol.165
, Issue.3
, pp. 182-185
-
-
Kratz, C.P.1
Nathrath, M.2
Freisinger, P.3
Dressel, P.4
Assmuss, H.-P.5
Klein, C.6
Yoshimi, A.7
Burdach, S.8
Niemeyer, C.M.9
-
117
-
-
24744455046
-
The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease
-
DOI 10.1182/blood-2005-02-0531
-
Kratz CP, Niemeyer CM, Castleberry RP, Cetin M, Bergstrasser E, et al: The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome. Blood 2005;15:2183-2185. (Pubitemid 41291737)
-
(2005)
Blood
, vol.106
, Issue.6
, pp. 2183-2185
-
-
Kratz, C.P.1
Niemeyer, C.M.2
Castleberry, R.P.3
Cetin, M.4
Bergstrasser, E.5
Emanuel, P.D.6
Hasle, H.7
Kardos, G.8
Klein, C.9
Kojima, S.10
Stary, J.11
Trebo, M.12
Zecca, M.13
Gelb, B.D.14
Tartaglia, M.15
Loh, M.L.16
-
118
-
-
20144389353
-
Genotypic and phenotypic characterization of Noonan syndrome: New data and review of the literature
-
DOI 10.1002/ajmg.a.30598
-
Jongmans M, Sistemans EA, Rikken A, Nillesen 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
-
119
-
-
0038278866
-
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia
-
DOI 10.1038/ng1156
-
Tartaglia M, Niemeyer CM, Fragale A, Song X, Buechner J, et al: Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. Nat Genet 2003;34:148-150. (Pubitemid 36666923)
-
(2003)
Nature Genetics
, vol.34
, Issue.2
, pp. 148-150
-
-
Tartaglia, M.1
Niemeyer, C.M.2
Fragale, A.3
Song, X.4
Buechner, J.5
Jung, A.6
Hahlen, K.7
Hasle, H.8
Licht, J.D.9
Gelb, B.D.10
-
120
-
-
0014466199
-
Pheochromocytoma and hyporesponsiveness to thyrotropin in a 46, XY male with features of Turner phenotype
-
Becker CE, Rosen SW, Engelman K: Pheochromocytoma and hyporesponsiveness to thyrotropin in a 46, XY male with features of Turner phenotype. Ann Intern Med 1969;70:325-333.
-
(1969)
Ann Intern Med
, vol.70
, pp. 325-333
-
-
Becker, C.E.1
Rosen, S.W.2
Engelman, K.3
-
122
-
-
0037398741
-
Orbital rhabdomyosarcoma in Noonan syndrome
-
DOI 10.1097/00043426-200304000-00014
-
Jung A, Bechthold S, Pfluger T, Renner C, Ehrt O: Orbital rhabdomyosarcoma in Noonan syndrome. J Pediatr Hematol Oncol 2003;25:330-332. (Pubitemid 36506224)
-
(2003)
Journal of Pediatric Hematology/Oncology
, vol.25
, Issue.4
, pp. 330-332
-
-
Jung, A.1
Bechthold, S.2
Pfluger, T.3
Renner, C.4
Ehrt, O.5
-
123
-
-
0014339668
-
Noonan's syndrome: A case with elevated serum alkaline phosphatase levels and malignant schwannoma of the left forearm
-
Kaplan MS, Opitz JM, Gosset FR: Noonan's syndrome: A case with elevated serum alkaline phosphatase levels and malignant schwannoma of the left forearm. Am J Dis Child 1968;116:359-366.
-
(1968)
Am J Dis Child
, vol.116
, pp. 359-366
-
-
Kaplan, M.S.1
Opitz, J.M.2
Gosset, F.R.3
-
124
-
-
0029027050
-
Vaginal rhabdomyosarcoma in a patient with Noonan syndrome
-
Khan S, McDowell H, Upadhyaya M, Fryer A: Vaginal rhabdomyosarcoma in a patient with Noonan syndrome. J Med Genet 1995;32:743-745.
-
(1995)
J Med Genet
, vol.32
, pp. 743-745
-
-
Khan, S.1
McDowell, H.2
Upadhyaya, M.3
Fryer, A.4
-
125
-
-
0030973928
-
Noonan syndrome associated with neuroblastoma: A case report
-
DOI 10.1007/s002470050140
-
Lopez-Miranda B, Westra SJ, Yazdani S, Boechar MI: Noonan syndrome associated with neuroblastoma: a case report. Pediatr Radiol 1997;27:324-326. (Pubitemid 27174306)
-
(1997)
Pediatric Radiology
, vol.27
, Issue.4
, pp. 324-326
-
-
Lopez-Miranda, B.1
Westra, S.J.2
Yazdani, S.3
Boechat, M.I.4
-
126
-
-
0034091082
-
A case of Noonan's syndrome with possible associated neuroblastoma (multiple letters)
-
Ijiri R, Tanaka Y, Keisuke K, Masuno M, Imaizumi K: A case of Noonan's syndrome with possible associated neuroblastoma. Pediatr Radiol 2000;30:432-433. (Pubitemid 30330454)
-
(2000)
Pediatric Radiology
, vol.30
, Issue.6
, pp. 432-433
-
-
Ijiri, R.1
Tanaka, Y.2
Kato, K.3
Masuno, M.4
Imaizumi, K.5
-
127
-
-
0013989933
-
Ullrich-Turner syndrome in the male: Review of the literature and report of a case with lymphocytic (Hashimoto's) thyroiditis
-
Chaves-Carballo E, Hayles AB: Ullrich-Turner syndrome in the male: review of the literature and report of a case with lymphocytic (Hashimoto's) thyroiditis. Mayo Clin Proc 1966;41:843-854.
-
(1966)
Mayo Clin Proc
, vol.41
, pp. 843-854
-
-
Chaves-Carballo, E.1
Hayles, A.B.2
-
128
-
-
0015793274
-
Noonan's syndrome and autoimmune thyroiditis
-
Vesterhus P, Aarskog D: Noonan's syndrome and autoimmune thyroiditis. J Pediatr 1973;83:237-240.
-
(1973)
J Pediatr
, vol.83
, pp. 237-240
-
-
Vesterhus, P.1
Aarskog, D.2
-
129
-
-
0037228551
-
The unusual association of three autoimmune diseases in a patient with Noonan syndrome
-
DOI 10.1016/S1054-139X(02)00364-6, PII S1054139X02003646
-
Amoroso A, Garzia P, Vadacca M, Galluzzo S, Del Porto F, et al: The unusual association of three autoimmune diseases in a patient with Noonan syndrome. J Adol Health 2003;32:94-97. (Pubitemid 36042819)
-
(2003)
Journal of Adolescent Health
, vol.32
, Issue.1
, pp. 94-97
-
-
Amoroso, A.1
Garzia, P.2
Vadacca, M.3
Galluzzo, S.4
Del Porto, F.5
Mitterhofer, A.P.6
Afeltra, A.7
-
130
-
-
28444467429
-
Systemic lupus erythematosus and other autoimmune disorders in children with Noonan syndrome
-
Lopez-Rangel E, Malleson PN, Lirenman DS, Roa B, Wiszniewska J, Lewis ME: Systemic lupus erythematosus and other autoimmune disorders in children with Noonan syndrome. Am J Med Genet A 2006;139:239-242.
-
(2006)
Am J Med Genet A
, vol.139
, pp. 239-242
-
-
Lopez-Rangel, E.1
Malleson, P.N.2
Lirenman, D.S.3
Roa, B.4
Wiszniewska, J.5
Lewis, M.E.6
-
131
-
-
0030918678
-
Noonan syndrome and moyamoya
-
DOI 10.1016/S0887-8994(97)89980-8, PII S0887899496000246
-
Ganesan V, Kirkham FJ: Noonan syndrome and Moyamoya. Pediatr Neurol 1997;16:256-258. (Pubitemid 27225438)
-
(1997)
Pediatric Neurology
, vol.16
, Issue.3
, pp. 256-258
-
-
Ganesan, V.1
Kirkham, F.J.2
-
132
-
-
7044253169
-
Noonan syndrome, moyamoya-like vascular changes, and antiphospholipid syndrome
-
DOI 10.1016/j.pediatrneurol.2004.05.015, PII S0887899404003492
-
Yamashita Y, Kusaga A, Koga Y, Nagamitsu S-I, Matsuishi T: Noonan syndrome, Moyamoya-like vascular changes, and antiphospholipid antibodies. Pediatr Neurol 2004;31:364-366. (Pubitemid 39424205)
-
(2004)
Pediatric Neurology
, vol.31
, Issue.5
, pp. 364-366
-
-
Yamashita, Y.1
Kusaga, A.2
Koga, Y.3
Nagamitsu, S.-I.4
Matsuishi, T.5
-
133
-
-
0034729087
-
Noonan syndrome: A cryptic condition in early gestation
-
DOI 10.1002/(SICI)1096-8628(20000529)92:3<159::AID-AJMG1>3.0.CO;2-2
-
Achiron R, Heggesh J, Grisaru D, Goldman B, Lipitz S, et al: Noonan syndrome: A cryptic condition in early gestation. Am J Med Genet 2000;92:159-165. (Pubitemid 30228485)
-
(2000)
American Journal of Medical Genetics
, vol.92
, Issue.3
, pp. 159-165
-
-
Achiron, R.1
Heggesh, J.2
Grisaru, D.3
Goldman, B.4
Lipitz, S.5
Yagel, S.6
Frydman, M.7
-
135
-
-
0026347466
-
Prenatal sonographic documentation of cystic hygroma regression in Noonan syndrome
-
Donnenfeld A, Nazir MA, Sindoni F, Librizzi RJ: Prenatal sonographic documentation of cystic hygroma regression in Noonan syndrome. Am J Med Genet 1991;39:461-465.
-
(1991)
Am J Med Genet
, vol.39
, pp. 461-465
-
-
Donnenfeld, A.1
Nazir, M.A.2
Sindoni, F.3
Librizzi, R.J.4
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