-
1
-
-
27144531386
-
Germline mutations in HRAS proto-oncogene cause Costello syndrome
-
Aoki Y, Niihori T, Kawame H, Kurosawa K, Ohashi H, Tanaka Y, Filocamo M, Kato K, Suzuki Y, Kure S, Matsubara Y. 2005. Germline mutations in HRAS proto-oncogene cause Costello syndrome. Nat Genet 37:1038-1040.
-
(2005)
Nat Genet
, vol.37
, pp. 1038-1040
-
-
Aoki, Y.1
Niihori, T.2
Kawame, H.3
Kurosawa, K.4
Ohashi, H.5
Tanaka, Y.6
Filocamo, M.7
Kato, K.8
Suzuki, Y.9
Kure, S.10
Matsubara, Y.11
-
2
-
-
30144434094
-
HRAS mutations in Costello syndrome: Detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy
-
Estep AL, Tidyman WE, Teitell MA, Cotter PD, Rauen KA. 2006. HRAS mutations in Costello syndrome: Detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy. Am J Med Genet Part A 140A:8-16.
-
(2006)
Am J Med Genet
, vol.140 A
, Issue.PART A
, pp. 8-16
-
-
Estep, A.L.1
Tidyman, W.E.2
Teitell, M.A.3
Cotter, P.D.4
Rauen, K.A.5
-
3
-
-
23444433362
-
-
Gripp KW. 2005. Tumor predisposition in Costello syndrome. Am J Med Genet Part C Semin Med Genet 137C:72-77.
-
Gripp KW. 2005. Tumor predisposition in Costello syndrome. Am J Med Genet Part C Semin Med Genet 137C:72-77.
-
-
-
-
4
-
-
30144433531
-
HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation
-
Gripp KW, Lin AE, Stabley DL, Nicholson L, Scott CI, Jr., Doyle D, Aoki Y, Matsubara Y, Zackai EH, Lapunzina P, Gonzalez-Meneses A, Holbrook J, Agresta CA, Gonzalez IL, Sol-Church K. 2006a. HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation. Am J Med Genet Part A 140A:1-7.
-
(2006)
Am J Med Genet
, vol.140 A
, Issue.PART A
, 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
-
5
-
-
33749485297
-
Somatic mosaicism for an HRAS mutation causes Costello syndrome
-
Gripp KW, Stabley DL, Nicholson L, Hoffman JD, Sol-Church K. 2006b. Somatic mosaicism for an HRAS mutation causes Costello syndrome. Am J Med Genet Part A 140A:2163-2169.
-
(2006)
Am J Med Genet
, vol.140 A
, Issue.PART A
, pp. 2163-2169
-
-
Gripp, K.W.1
Stabley, D.L.2
Nicholson, L.3
Hoffman, J.D.4
Sol-Church, K.5
-
6
-
-
34447332220
-
Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome
-
Part A in press
-
Gripp KW, Lin AE, Nicholson L, Allen W, Cramer A, Jones KL, Kutz W, Peck D, Rebolledo MA, Wheeler PG, Wilson WG, Al-Rahawan MM, Stabley DL, Sol-Church K. 2007. 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 Part A (in press).
-
(2007)
Am J Med Genet
-
-
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.G.11
Al-Rahawan, M.M.12
Stabley, D.L.13
Sol-Church, K.14
-
7
-
-
0038517691
-
Hepatoblastoma associated with Beckwith-Wiedemann syndrome and hemihypertrophy
-
Hamada Y, Takada K, Fukunaga S, Hioki K. 2003. Hepatoblastoma associated with Beckwith-Wiedemann syndrome and hemihypertrophy. Pediatr Surg Int 19:112-114.
-
(2003)
Pediatr Surg Int
, vol.19
, pp. 112-114
-
-
Hamada, Y.1
Takada, K.2
Fukunaga, S.3
Hioki, K.4
-
8
-
-
0042306238
-
-
Hennekam RC. 2003. Costello syndrome: An overview. Am J Med Genet Part C Semin Med Genet 117C:42-48.
-
Hennekam RC. 2003. Costello syndrome: An overview. Am J Med Genet Part C Semin Med Genet 117C:42-48.
-
-
-
-
9
-
-
0038545653
-
Is the locus for Costello syndrome on 11p?
-
Kerr B, Mucchielli ML, Sigaudy S, Fabre M, Saunier P, Voelckel MA, Howard E, Elles R, Eden TO, Black GC, Philip N. 2003. Is the locus for Costello syndrome on 11p? J Med Genet 40:469-471.
-
(2003)
J Med Genet
, vol.40
, pp. 469-471
-
-
Kerr, B.1
Mucchielli, M.L.2
Sigaudy, S.3
Fabre, M.4
Saunier, P.5
Voelckel, M.A.6
Howard, E.7
Elles, R.8
Eden, T.O.9
Black, G.C.10
Philip, N.11
-
10
-
-
33646417908
-
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases
-
Kerr B, Delrue MA, Sigaudy S, Perveen R, Marche M, Burgelin I, Stef M, Tang B, Eden OB, O'Sullivan J, De Sandre-Giovannoli A, Reardon W, Brewer C, Bennett C, Quarell O, M'Cann E, Donnai D, Stewart F, Hennekam R, Cave H, Verloes A, Philip N, Lacombe D, Levy N, Arveiler B, Black G. 2006. Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. J Med Genet 43:401-405.
-
(2006)
J Med Genet
, vol.43
, pp. 401-405
-
-
Kerr, B.1
Delrue, M.A.2
Sigaudy, S.3
Perveen, R.4
Marche, M.5
Burgelin, I.6
Stef, M.7
Tang, B.8
Eden, O.B.9
O'Sullivan, J.10
De Sandre-Giovannoli, A.11
Reardon, W.12
Brewer, C.13
Bennett, C.14
Quarell, O.15
M'Cann, E.16
Donnai, D.17
Stewart, F.18
Hennekam, R.19
Cave, H.20
Verloes, A.21
Philip, N.22
Lacombe, D.23
Levy, N.24
Arveiler, B.25
Black, G.26
more..
-
11
-
-
4243248919
-
Further delineation of cardiac abnormalities in Costello syndrome
-
Lin AE, Grossfeld PD, Hamilton RM, Smoot L, Gripp KW, Proud V, Weksberg R, Wheeler P, Picker J, Irons M, Zaekai E, Marino B, Scott CI, Jr., Nicholson L. 2002. Further delineation of cardiac abnormalities in Costello syndrome. Am J Med Genet 111: 115-129.
-
(2002)
Am J Med Genet
, vol.111
, 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
Zaekai, E.11
Marino, B.12
Scott Jr., C.I.13
Nicholson, L.14
-
12
-
-
10044219758
-
Cytogenetic abnormalities in hepatoblastoma: Report of two new cases and review of the literature suggesting imbalance of chromosomal regions on chromosomes 1, 4, and 12
-
Nagata T, Nakamura M, Shichino H, Chin M, Sugito K, Ikeda T, Koshinaga T, Fukuzawa M, Inoue M, Mugishima H. 2005. Cytogenetic abnormalities in hepatoblastoma: Report of two new cases and review of the literature suggesting imbalance of chromosomal regions on chromosomes 1, 4, and 12. Cancer Genet Cytogenet 156:8-13.
-
(2005)
Cancer Genet Cytogenet
, vol.156
, pp. 8-13
-
-
Nagata, T.1
Nakamura, M.2
Shichino, H.3
Chin, M.4
Sugito, K.5
Ikeda, T.6
Koshinaga, T.7
Fukuzawa, M.8
Inoue, M.9
Mugishima, H.10
-
13
-
-
33644629727
-
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
-
Niihori T, Aoki Y, Narumi Y, Neri G, Cave H, Verloes A, Okamoto N, Hennekam RC, Gillessen-Kaesbach G, Wieczorek D, Kavamura MI, Kurosawa K, Ohashi H, Wilson L, Heron D, Bonneau D, Corona G, Kaname T, Naritomi K, Baumann C, Matsumoto N, Kato K, Kure S, Matsubara Y. 2006. Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet 38:294-296.
-
(2006)
Nat Genet
, vol.38
, pp. 294-296
-
-
Niihori, T.1
Aoki, Y.2
Narumi, Y.3
Neri, G.4
Cave, H.5
Verloes, A.6
Okamoto, N.7
Hennekam, R.C.8
Gillessen-Kaesbach, G.9
Wieczorek, D.10
Kavamura, M.I.11
Kurosawa, K.12
Ohashi, H.13
Wilson, L.14
Heron, D.15
Bonneau, D.16
Corona, G.17
Kaname, T.18
Naritomi, K.19
Baumann, C.20
Matsumoto, N.21
Kato, K.22
Kure, S.23
Matsubara, Y.24
more..
-
14
-
-
33751257771
-
The cardiofaciocutaneous syndrome
-
Roberts A, Allanson J, Jadico SK, Kavamura MI, Noonan J, Opitz JM, Young T, Neri G. 2006. The cardiofaciocutaneous syndrome. J Med Genet 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
Opitz, J.M.6
Young, T.7
Neri, G.8
-
15
-
-
33644696097
-
Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome
-
Rodriguez-Viciana P, Tetsu O, Tidyman WE, Estep AL, Conger BA, Cruz MS, McCormick F, Rauen KA. 2006. Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. Science 311:1287-1290.
-
(2006)
Science
, vol.311
, pp. 1287-1290
-
-
Rodriguez-Viciana, P.1
Tetsu, O.2
Tidyman, W.E.3
Estep, A.L.4
Conger, B.A.5
Cruz, M.S.6
McCormick, F.7
Rauen, K.A.8
-
16
-
-
0042572505
-
Where do we stand with hepatoblastoma? A review
-
Schnater JM, Kohler SE, Lamers WH, von Schweinitz D, Aronson DC. 2003. Where do we stand with hepatoblastoma? A review Cancer 98:668-678.
-
(2003)
Cancer
, vol.98
, pp. 668-678
-
-
Schnater, J.M.1
Kohler, S.E.2
Lamers, W.H.3
von Schweinitz, D.4
Aronson, D.C.5
-
17
-
-
18444401014
-
Noonan syndrome and related disorders: Genetics and pathogenesis
-
Tartaglia M, Gelb BD. 2005. Noonan syndrome and related disorders: Genetics and pathogenesis. Annu Rev Genom Hum Genet 6:45-68.
-
(2005)
Annu Rev Genom Hum Genet
, vol.6
, pp. 45-68
-
-
Tartaglia, M.1
Gelb, B.D.2
-
18
-
-
24944469682
-
Cytogenetic evaluation of a large series of hepatoblastomas: Numerical abnormalities with recurring aberrations involving 1q12-q21
-
Tomlinson GE, Douglass EC, Pollock BH, Finegold MJ, Schneider NR. 2005. Cytogenetic evaluation of a large series of hepatoblastomas: Numerical abnormalities with recurring aberrations involving 1q12-q21. Genes Chromosomes Cancer 44:177-184.
-
(2005)
Genes Chromosomes Cancer
, vol.44
, pp. 177-184
-
-
Tomlinson, G.E.1
Douglass, E.C.2
Pollock, B.H.3
Finegold, M.J.4
Schneider, N.R.5
-
19
-
-
0032824599
-
Acute lymphoblastic leukaemia in a patient with cardiofaciocutaneous syndrome
-
van Den Berg H, Hennekam RC. 1999- Acute lymphoblastic leukaemia in a patient with cardiofaciocutaneous syndrome. J Med Genet 36:799-800.
-
(1999)
J Med Genet
, vol.36
, pp. 799-800
-
-
van Den Berg, H.1
Hennekam, R.C.2
|