-
1
-
-
57849097567
-
Neurofibromatosis: Emerging phenotypes, mechanisms and management
-
Huson S. Neurofibromatosis: emerging phenotypes, mechanisms and management. Clin Med 2009;8:611-17.
-
(2009)
Clin Med
, vol.8
, pp. 611-617
-
-
Huson, S.1
-
3
-
-
33947594129
-
Hyperactive Ras in developmental disorders and cancer
-
DOI 10.1038/nrc2109, PII NRC2109
-
Schubbert S, Shannon K, Bollag G. Hyperactive Ras in developmental disorders and cancer. Nat Rev Cancer 2007;7:295-308. (Pubitemid 46480970)
-
(2007)
Nature Reviews Cancer
, vol.7
, Issue.4
, pp. 295-308
-
-
Schubbert, S.1
Shannon, K.2
Bollag, G.3
-
4
-
-
0026092357
-
The cardio-facio-cutaneous (CFC) syndrome and Noonan syndrome: Are they the same?
-
Fryer AE, Holt PJ, Hughes HE. The cardio-facio-cutaneous (CFC) syndrome and Noonan syndrome: are they the same? Am J Med Genet 1991;38:548-51.
-
(1991)
Am J Med Genet
, vol.38
, pp. 548-551
-
-
Fryer, A.E.1
Holt, P.J.2
Hughes, H.E.3
-
5
-
-
58149395502
-
Noonan, Costello and cardio-facio-cutaneous syndromes: Dysregulation of the Ras-MAPK pathway
-
Tidyman WE, Rauen KA. Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway. Expert Rev Mol Med 2008;10:e37.
-
(2008)
Expert Rev Mol Med
, vol.10
-
-
Tidyman, W.E.1
Rauen, K.A.2
-
6
-
-
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, et al. SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. J Med Genet 2007;44:651-6. (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..
-
7
-
-
69349105766
-
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair
-
Cordeddu V, Di Schiavi E, Pennacchio LA, et al. Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Nat Genet 2009;41:1022-6.
-
(2009)
Nat Genet
, vol.41
, pp. 1022-1026
-
-
Cordeddu, V.1
Di Schiavi, E.2
Pennacchio, L.A.3
-
9
-
-
63749111765
-
Germline BRAF mutations in Noonan, Leopard, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum
-
Sarkozy A, Carta C, Moretti S, et al. Germline BRAF mutations in Noonan, Leopard, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. Hum Mutat 2009;30:695-702.
-
(2009)
Hum Mutat
, vol.30
, pp. 695-702
-
-
Sarkozy, A.1
Carta, C.2
Moretti, S.3
-
10
-
-
28144437387
-
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome
-
DOI 10.1086/498454
-
De Luca A, Bottillo I, Sarkozy A, et al. NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. Am J Hum Genet 2005;77:1092-101. (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
-
11
-
-
66349130438
-
Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome
-
Thiel C, Wilken M, Zenker M, et al. Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome. Am J Med Genet A 2009;149A:1263-7.
-
(2009)
Am J Med Genet A
, vol.149 A
, pp. 1263-1267
-
-
Thiel, C.1
Wilken, M.2
Zenker, M.3
-
12
-
-
34548328245
-
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype
-
DOI 10.1038/ng2113, PII NG2113
-
Brems H, Chmara M, Sahbatou M, et al. Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat Genet 2007;39:1120-6. (Pubitemid 47340658)
-
(2007)
Nature Genetics
, vol.39
, Issue.9
, pp. 1120-1126
-
-
Brems, H.1
Chmara, M.2
Sahbatou, M.3
Denayer, E.4
Taniguchi, K.5
Kato, R.6
Somers, R.7
Messiaen, L.8
De Schepper, S.9
Fryns, J.-P.10
Cools, J.11
Marynen, P.12
Thomas, G.13
Yoshimura, A.14
Legius, E.15
-
13
-
-
40649088334
-
Severe neonatal manifestations of Costello syndrome
-
DOI 10.1136/jmg.2007.054411
-
Lo IF, Brewer C, Shannon N, et al. Severe neonatal manifestations of Costello syndrome. J Med Genet 2008;45:167-71. (Pubitemid 351373746)
-
(2008)
Journal of Medical Genetics
, vol.45
, Issue.3
, pp. 167-171
-
-
Lo, I.F.M.1
Brewer, C.2
Shannon, N.3
Shorto, J.4
Tang, B.5
Black, G.6
Soo, M.T.7
Ng, D.K.K.8
Lam, S.T.S.9
Kerr, B.10
-
14
-
-
33646417908
-
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases
-
Kerr B, Delrue MA, Sigaudy S, et al. Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. J Med Genet 2006;43:401-5.
-
(2006)
J Med Genet
, vol.43
, pp. 401-405
-
-
Kerr, B.1
Delrue, M.A.2
Sigaudy, S.3
-
15
-
-
43049092257
-
The diagnosis of Costello syndrome: Nomenclature in Ras/MAPK pathway disorders
-
DOI 10.1002/ajmg.a.32273
-
Kerr B, Allanson J, Delrue MA, et al. The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders. Am J Med Genet A 2008;146A:1218-20. (Pubitemid 351628611)
-
(2008)
American Journal of Medical Genetics, Part a
, vol.146
, Issue.9
, pp. 1218-1220
-
-
Kerr, B.1
Allanson, J.2
Delrue, M.A.3
Gripp, K.W.4
Lacombe, D.5
Lin, A.E.6
Rauen, K.A.7
-
16
-
-
42049090566
-
Further delineation of cardio-facio-cutaneous syndrome: Clinical features of 38 individuals with proven mutations
-
Armour CM, Allanson JE. Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations. J Med Genet 2008;45:249-54.
-
(2008)
J Med Genet
, vol.45
, pp. 249-254
-
-
Armour, C.M.1
Allanson, J.E.2
-
17
-
-
34447313380
-
Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome
-
Al-Rahawan MM, Chute DJ, Sol-Church K, et al. Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome. Am J Med Genet A 2007;143A:1481-8.
-
(2007)
Am J Med Genet A
, vol.143 A
, pp. 1481-1488
-
-
Al-Rahawan, M.M.1
Chute, D.J.2
Sol-Church, K.3
-
18
-
-
34248198970
-
Leukemia in Cardio-facio-cutaneous (CFC) syndrome: A patient with a germline mutation in BRAF proto-oncogene
-
DOI 10.1097/MPH.0b013e3180547136, PII 0004342620070500000004
-
Makita Y, Narumi Y, Yoshida M, et al. Leukemia in Cardio-facio-cutaneous (CFC) syndrome: a patient with a germline mutation in BRAF proto-oncogene. J Pediatr Hematol Oncol 2007;29:287-90. (Pubitemid 46707505)
-
(2007)
Journal of Pediatric Hematology/Oncology
, vol.29
, Issue.5
, pp. 287-290
-
-
Makita, Y.1
Narumi, Y.2
Yoshida, M.3
Niihori, T.4
Kure, S.5
Fujieda, K.6
Matsubara, Y.7
Aoki, Y.8
-
19
-
-
33644629727
-
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
-
Niihori T, Aoki Y, Narumi Y, et al. Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet 2006;38:294-6.
-
(2006)
Nat Genet
, vol.38
, pp. 294-296
-
-
Niihori, T.1
Aoki, Y.2
Narumi, Y.3
-
20
-
-
0347362524
-
Capillary Malformation-Arteriovenous Malformation, a New Clinical and Genetic Disorder Caused by RASA1 Mutations
-
DOI 10.1086/379793
-
Eerola I, Boon LM, Mulliken JB, et al. Capillary malformation- arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Am J Hum Genet 2003;73:1240-9. (Pubitemid 38037418)
-
(2003)
American Journal of Human Genetics
, vol.73
, Issue.6
, pp. 1240-1249
-
-
Eerola, I.1
Boon, L.M.2
Mulliken, J.B.3
Burrows, P.E.4
Dompmartin, A.5
Watanabe, S.6
Vanwijck, R.7
Vikkula, M.8
-
21
-
-
0036201303
-
A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1
-
DOI 10.1086/339689
-
Hart TC, Zhang Y, Gorry MC, et al. A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1. Am J Hum Genet 2002;70:943-54. (Pubitemid 34259310)
-
(2002)
American Journal of Human Genetics
, vol.70
, Issue.4
, pp. 943-954
-
-
Hart, T.C.1
Zhang, Y.2
Gorry, M.C.3
Hart, P.S.4
Cooper, M.5
Marazita, M.L.6
Marks, J.M.7
Cortelli, J.R.8
Pallos, D.9
-
22
-
-
33745001462
-
Second primary tumors in neurofibromatosis 1 patients treated for optic glioma: Substantial risks after radiotherapy
-
Sharif S, Ferner R, Birch JM, et al. Second primary tumors in neurofibromatosis 1 patients treated for optic glioma: substantial risks after radiotherapy. J Clin Oncol 2006;24:2570-5.
-
(2006)
J Clin Oncol
, vol.24
, pp. 2570-2575
-
-
Sharif, S.1
Ferner, R.2
Birch, J.M.3
-
23
-
-
63749093765
-
Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D
-
Kuniba H, Pooh RK, Sasaki K, et al. Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D. Am J Med Genet A 2009;149A:785-7.
-
(2009)
Am J Med Genet A
, vol.149 A
, pp. 785-787
-
-
Kuniba, H.1
Pooh, R.K.2
Sasaki, K.3
-
24
-
-
39149098858
-
The cardiofaciocutaneous syndrome: Prenatal findings in two patients
-
Witters I, Denayer E, Brems H, et al. The cardiofaciocutaneous syndrome: prenatal findings in two patients. Prenat Diagn 2008;28:53-5.
-
(2008)
Prenat Diagn
, vol.28
, pp. 53-55
-
-
Witters, I.1
Denayer, E.2
Brems, H.3
-
25
-
-
26444532012
-
Preimplantation genetic diagnosis for neurofibromatosis type 1
-
DOI 10.1093/molehr/gah170
-
Spits C, De Rycke M, Van Ranst N, et al. Preimplantation genetic diagnosis for neurofibromatosis type 1. Mol Hum Reprod 2005;11:381-7. (Pubitemid 41417873)
-
(2005)
Molecular Human Reproduction
, vol.11
, Issue.5
, pp. 381-387
-
-
Spits, C.1
De Rycke, M.2
Van Ranst, N.3
Joris, H.4
Verpoest, W.5
Lissens, W.6
Devroey, P.7
Van Steirteghem, A.8
Liebaers, I.9
Sermon, K.10
-
26
-
-
61749088580
-
Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism
-
Sol-Church K, Stabley DL, Demmer LA, et al. Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism. Am J Med Genet A 2009;149A:315-21.
-
(2009)
Am J Med Genet A
, vol.149 A
, pp. 315-321
-
-
Sol-Church, K.1
Stabley, D.L.2
Demmer, L.A.3
-
27
-
-
36049018067
-
De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features
-
Søvik O, Schubbert S, Houge G, et al. De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features. J Med Genet 2007;44:e84.
-
(2007)
J Med Genet
, vol.44
-
-
Søvik, O.1
Schubbert, S.2
Houge, G.3
-
28
-
-
51349102476
-
Statins, bone, and neurofibromatosis type 1
-
Korf BR. Statins, bone, and neurofibromatosis type 1. BMC Med 2008;6:22.
-
(2008)
BMC Med
, vol.6
, pp. 22
-
-
Korf, B.R.1
-
29
-
-
34547656112
-
Mediating ERK1/2 signaling rescues congenital heart defects in a mouse model of Noonan syndrome
-
DOI 10.1172/JCI30756
-
Nakamura T, Colbert M, Krenz M, et al. Mediating ERK 1/2 signaling rescues congenital heart defects in a mouse model of Noonan syndrome. J Clin Invest 2007;117:2123-32. (Pubitemid 47219557)
-
(2007)
Journal of Clinical Investigation
, vol.117
, Issue.8
, pp. 2123-2132
-
-
Nakamura, T.1
Colbert, M.2
Krenz, M.3
Molkentin, J.D.4
Hahn, H.S.5
Dorn II, G.W.6
Robbins, J.7
-
30
-
-
45749098853
-
A mouse model for Costello syndrome reveals an Ang II-mediated hypertensive condition
-
DOI 10.1172/JCI34385
-
Schuhmacher AJ, Guerra C, Sauzeau V, et al. A mouse model for Costello syndrome reveals an Ang II-mediated hypertensive condition. J Clin Invest 2008;118:2169-79. (Pubitemid 351872335)
-
(2008)
Journal of Clinical Investigation
, vol.118
, Issue.6
, pp. 2169-2179
-
-
Schuhmacher, A.J.1
Guerra, C.2
Sauzeau, V.3
Canamero, M.4
Bustelo, X.R.5
Barbacid, M.6
|