-
2
-
-
0023244033
-
Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17
-
Barker D,Wright E, Nguyen K, Cannon L, Fain P, Goldgar D, et al. (1987). Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17. Science 236:1100-1102.
-
(1987)
Science
, vol.236
, pp. 1100-1102
-
-
Barker Dwright, E.1
Nguyen, K.2
Cannon, L.3
Fain, P.4
Goldgar, D.5
-
3
-
-
0029993451
-
Neurofibromatosis/Noonan phenotype: A variable feature of type 1 neurofibromatosis
-
Colley A, Donnai D, Evans DGR (1996). Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis. Clin Genet 49:59-64.
-
(1996)
Clin Genet
, vol.49
, pp. 59-64
-
-
Colley, A.1
Donnai, D.2
Evans, D.G.R.3
-
4
-
-
0034094731
-
Use of the National Institutes of Health criteria for diagnosis of neurofibromatosis 1 in children
-
DeBella K, Szudek J, Friedman JM (2000). Use of the National Institutes of Health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics 105:608-614.
-
(2000)
Pediatrics
, vol.105
, pp. 608-614
-
-
Debella, K.1
Szudek, J.2
Friedman, J.M.3
-
5
-
-
28144437387
-
NF1 gene mutations represent the major molecular event underlying Neurofibromatosis- Noonan syndrome
-
De Luca A, Bottilo I, Sarkozy A, Carta C, Neri C, Bellacchio E, et al. (2005). NF1 gene mutations represent the major molecular event underlying Neurofibromatosis- Noonan syndrome. Am J Hum Genet 77:1092-1101.
-
(2005)
Am J Hum Genet
, vol.77
, pp. 1092-1101
-
-
De Luca, A.1
Bottilo, I.2
Sarkozy, A.3
Carta, C.4
Neri, C.5
Bellacchio, E.6
-
6
-
-
77955583599
-
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype
-
Martinelli S, De Luca A, Stellacci E, Rossi C, Checqulolo S, Lepri F, et al. (2010). Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. Am J Hum Genet 87:250-257.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 250-257
-
-
Martinelli, S.1
De Luca, A.2
Stellacci, E.3
Rossi, C.4
Checqulolo, S.5
Lepri, F.6
-
7
-
-
37249013316
-
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signaling pathway: Genotype-phenotype relationships and overlap with Costello syndrome
-
Nava C, Hanna N, Michot C, Pereira S, Pouvreau N, Niihori T, et al. (2007). Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signaling pathway: genotype-phenotype relationships and overlap with Costello syndrome. J Med Genet 44:763-771.
-
(2007)
J Med Genet
, vol.44
, pp. 763-771
-
-
Nava, C.1
Hanna, N.2
Michot, C.3
Pereira, S.4
Pouvreau, N.5
Niihori, T.6
-
8
-
-
77957693114
-
Noonan syndrome: Clinical features, diagnosis, and management guidelines
-
Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME, et al. (2010). Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics 126:746-759.
-
(2010)
Pediatrics
, vol.126
, pp. 746-759
-
-
Romano, A.A.1
Allanson, J.E.2
Dahlgren, J.3
Gelb, B.D.4
Hall, B.5
Pierpont, M.E.6
-
10
-
-
66349130438
-
Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome
-
Thiel C,Wilken M, Zenker M, Sticht H, Fahsold R, Gusek-Schneider GC, Rauch A (2009). Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome. Am J Med Genet 149:1263-1267.
-
(2009)
Am J Med Genet
, vol.149
, pp. 1263-1267
-
-
Thiel Cwilken, M.1
Zenker, M.2
Sticht, H.3
Fahsold, R.4
Gusek-Schneider, G.C.5
Rauch, A.6
-
11
-
-
33845974480
-
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): Evidence of a clinically significant NF1 genotype-phenotype correlation
-
Upadhyaya M, Huson SM, Davies M, Thomas N, Chuzhanova N, Giovannini S, et al. (2007). An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Am J Hum Genet 80:140-151.
-
(2007)
Am J Hum Genet
, vol.80
, pp. 140-151
-
-
Upadhyaya, M.1
Huson, S.M.2
Davies, M.3
Thomas, N.4
Chuzhanova, N.5
Giovannini, S.6
-
12
-
-
0028127042
-
Clinical and Clinical and molecular studies in a large Dutch family with Noonan syndrome
-
Van der Burgt I, Berends E, Lommen E, van Beersum S, Hamel B, Mariman E (1994). Clinical and Clinical and molecular studies in a large Dutch family with Noonan syndrome. Am J Med Genet 53:187-191.
-
(1994)
Am J Med Genet
, vol.53
, pp. 187-191
-
-
Van Der Burgt, I.1
Berends, E.2
Lommen, E.3
Van Beersum, S.4
Hamel, B.5
Mariman, E.6
|