-
1
-
-
28444482090
-
Costello syndrome and hyperinsulinemic hypoglycemia
-
Alexander S, Ramadan D, Alkhayyat H, Al-Sharkawi I, Aboo Backer KC, El-Sabban F, Hussain K. 2005. Costello syndrome and hyperinsulinemic hypoglycemia. Am J Med Genet Part A 139A:227-230.
-
(2005)
Am J Med Genet
, vol.139 A
, Issue.PART A
, pp. 227-230
-
-
Alexander, S.1
Ramadan, D.2
Alkhayyat, H.3
Al-Sharkawi, I.4
Aboo Backer, K.C.5
El-Sabban, F.6
Hussain, K.7
-
2
-
-
27144531386
-
Germline mutations in HRAS proto-oncogenes 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-oncogenes cause Costello syndrome. Nature Genet 37:1038-1040.
-
(2005)
Nature 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
-
3
-
-
34547752968
-
Syndromes and disorders associated with omphalocoele(I): Beckwith-Wiedemann syndrome
-
Chen CP. 2007. Syndromes and disorders associated with omphalocoele(I): Beckwith-Wiedemann syndrome. Taiwan J Obstet Gynecol 46:96-112.
-
(2007)
Taiwan J Obstet Gynecol
, vol.46
, pp. 96-112
-
-
Chen, C.P.1
-
4
-
-
0032476053
-
Perspectives on overgrowth syndromes
-
Cohen MM, Jr. 1998. Perspectives on overgrowth syndromes. Am J Med Genet 79:234-237.
-
(1998)
Am J Med Genet
, vol.79
, pp. 234-237
-
-
Cohen Jr., M.M.1
-
5
-
-
0036299283
-
Hydramnios: Anomaly prevalence and sonographic detection
-
Dashe JS, McIntire DD, Ramus RM, Santos-Ramos R, Twickler DM. 2002. Hydramnios: Anomaly prevalence and sonographic detection. Obstet Gynecol 100:134-139.
-
(2002)
Obstet Gynecol
, vol.100
, pp. 134-139
-
-
Dashe, J.S.1
McIntire, D.D.2
Ramus, R.M.3
Santos-Ramos, R.4
Twickler, D.M.5
-
6
-
-
0344896673
-
Costello syndrome and neurological abnormalities
-
Delrue M-A, Chateil J-F, Arveiler B, Lacombe D. 2003. Costello syndrome and neurological abnormalities. Am J Med Genet Part A 123A:301-305.
-
(2003)
Am J Med Genet
, vol.123 A
, Issue.PART A
, pp. 301-305
-
-
Delrue, M.-A.1
Chateil, J.-F.2
Arveiler, B.3
Lacombe, D.4
-
7
-
-
7444248370
-
Costello syndrome with pancreatic islet cell hyperplasia
-
Dickson PI, Briones NY, Baylen BG, Jonas AJ, French SW, Lin HJ. 2004. Costello syndrome with pancreatic islet cell hyperplasia. Am J Med Genet Part A 130A:402-405.
-
(2004)
Am J Med Genet
, vol.130 A
, Issue.PART A
, pp. 402-405
-
-
Dickson, P.I.1
Briones, N.Y.2
Baylen, B.G.3
Jonas, A.J.4
French, S.W.5
Lin, H.J.6
-
8
-
-
30144434094
-
HRAS mutations in costello syndrome: Detection of constitutional activating mutations in codon 12 and 13 and loss ofwild-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 ofwild-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
-
9
-
-
23444433362
-
Tumor predisposition in Costello syndrome
-
Gripp KW. 2005. Tumor predisposition in Costello syndrome. Am J Med Genet Part C 137C:72-77.
-
(2005)
Am J Med Genet
, vol.137 C
, Issue.PART C
, pp. 72-77
-
-
Gripp, K.W.1
-
10
-
-
30144433531
-
HRAS mutation analysis in Costello syndrome: Genotype 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. 2006. HRAS mutation analysis in Costello syndrome: Genotype 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
-
11
-
-
0042306238
-
Costello syndrome: An overview
-
Hennekam RCM. 2003. Costello syndrome: An overview. Am J Med Genet Part C 117C:42-48.
-
(2003)
Am J Med Genet
, vol.117 C
, Issue.PART C
, pp. 42-48
-
-
Hennekam, R.C.M.1
-
12
-
-
0023232939
-
Polyhydramnios: Ultra-sonically detected prevalence and neonatal outcome
-
Hill LM, Breckle R, Thomas ML, Fries JK. 1987. Polyhydramnios: Ultra-sonically detected prevalence and neonatal outcome. Obstet Gynecol 69:21-25.
-
(1987)
Obstet Gynecol
, vol.69
, pp. 21-25
-
-
Hill, L.M.1
Breckle, R.2
Thomas, M.L.3
Fries, J.K.4
-
13
-
-
0031660268
-
Costello syndrome: Phenotype, natural history, differential diagnosis, and possible cause
-
Johnson JP, Golabi M, Norton ME, Rosenblatt RM, Feldman GM, Yang SP, Hall BD, Fries MH, Carey JC. 1998. Costello syndrome: Phenotype, natural history, differential diagnosis, and possible cause. J Pediatr 133:441-448.
-
(1998)
J Pediatr
, vol.133
, pp. 441-448
-
-
Johnson, J.P.1
Golabi, M.2
Norton, M.E.3
Rosenblatt, R.M.4
Feldman, G.M.5
Yang, S.P.6
Hall, B.D.7
Fries, M.H.8
Carey, J.C.9
-
14
-
-
0042320956
-
Further delineation of the behavioral and neurologic features in Costello syndrome
-
Kawame H, Matsui M, Kurosawa K, Matsuo M, Masuno M, Ohashi H, Fueki N, Aoyama K, Miyatsuka Y, Suzuki K, Akatsuka A, Ochiai Y, Fukushima Y. 2003. Further delineation of the behavioral and neurologic features in Costello syndrome. Am J Med Genet Part A 118A:8-14.
-
(2003)
Am J Med Genet
, vol.118 A
, Issue.PART A
, pp. 8-14
-
-
Kawame, H.1
Matsui, M.2
Kurosawa, K.3
Matsuo, M.4
Masuno, M.5
Ohashi, H.6
Fueki, N.7
Aoyama, K.8
Miyatsuka, Y.9
Suzuki, K.10
Akatsuka, A.11
Ochiai, Y.12
Fukushima, Y.13
-
16
-
-
63749093765
-
-
Kuniba H, Pooh RK, Sasaki K, Shimokawa O, Harada N, Kondoh T, Egashira M, Moriuchi H, Yoshiura KI, Niikawa N. 2008. Prenatal diagnosis of Costello syndrome using 3D ultrasounography amniocen-tesis confirmation of the rare HRAS mutation G12D. Am J Med Genet Part A (in press).
-
Kuniba H, Pooh RK, Sasaki K, Shimokawa O, Harada N, Kondoh T, Egashira M, Moriuchi H, Yoshiura KI, Niikawa N. 2008. Prenatal diagnosis of Costello syndrome using 3D ultrasounography amniocen-tesis confirmation of the rare HRAS mutation G12D. Am J Med Genet Part A (in press).
-
-
-
-
17
-
-
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, Zakai E, Marino B, Scott CI, Nicholson L. 2002. Further Delineation of Cardiac Abnormalities in Costello Syndrome. Am J Med Gen 111:115-129.
-
(2002)
Am J Med Gen
, 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
Zakai, E.11
Marino, B.12
Scott, C.I.13
Nicholson, L.14
-
18
-
-
41849093035
-
Correspondence: Clarification of previously reported Costello syndrome patients
-
Lin AE, Rauen KA, Gripp KW, Carey JC. 2008. Correspondence: Clarification of previously reported Costello syndrome patients. Am J Med Gen Part A 146A:940-943.
-
(2008)
Am J Med Gen
, vol.146 A
, Issue.PART A
, pp. 940-943
-
-
Lin, A.E.1
Rauen, K.A.2
Gripp, K.W.3
Carey, J.C.4
-
19
-
-
40649088334
-
Severe neonatal manifestations of Costello syndrome
-
Lo IFM, Brewer C, Shannon N, Shorto J, Tang B, Black G, Soo MT, Ng DKK, Lam STS, Kerr B. 2008. Severe neonatal manifestations of Costello syndrome. J Med Genet 45:167-171.
-
(2008)
J Med Genet
, vol.45
, 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
-
20
-
-
4344605690
-
Assessment of fetal intracranial pathologies first demonstrated late in pregnancy: Cell proliferation disorders
-
Malinger G, Lev D, Lerman-Sagie T. 2003. Assessment of fetal intracranial pathologies first demonstrated late in pregnancy: Cell proliferation disorders. Reprod Biol Endocrinol 1:1-9.
-
(2003)
Reprod Biol Endocrinol
, vol.1
, pp. 1-9
-
-
Malinger, G.1
Lev, D.2
Lerman-Sagie, T.3
-
21
-
-
40749147683
-
Polyhydramnios. Risk factors and outcome
-
Mathew M, Saquib S, Rizvi SG. 2008. Polyhydramnios. Risk factors and outcome. Saudi Med J 29:256-260.
-
(2008)
Saudi Med J
, vol.29
, pp. 256-260
-
-
Mathew, M.1
Saquib, S.2
Rizvi, S.G.3
-
23
-
-
33645849561
-
Perlman syndrome: Clinical report and nine-year follow-up
-
Piccione M, Cecconi M, Giuffre M, Lo Curto M, Malacarne M, Piro E, Riccio A, Corsello G. 2005. Perlman syndrome: Clinical report and nine-year follow-up. Am J Med Genet Part A 139A:131-135.
-
(2005)
Am J Med Genet
, vol.139 A
, Issue.PART A
, pp. 131-135
-
-
Piccione, M.1
Cecconi, M.2
Giuffre, M.3
Lo Curto, M.4
Malacarne, M.5
Piro, E.6
Riccio, A.7
Corsello, G.8
-
24
-
-
33846655745
-
HRAS and the Costello syndrome
-
Rauen KA. 2007. HRAS and the Costello syndrome. Clin Genet 71:101-208.
-
(2007)
Clin Genet
, vol.71
, pp. 101-208
-
-
Rauen, K.A.1
-
25
-
-
61649121052
-
Oncogenic HRAS mutations cause prolonged PI3K signaling in response to epidermal growth factor in fibroblasts of patients with Costello syndrome
-
Rosenberger G, Meien S, Kutsche K. 2008. Oncogenic HRAS mutations cause prolonged PI3K signaling in response to epidermal growth factor in fibroblasts of patients with Costello syndrome. Hum Mutat 30:352-362.
-
(2008)
Hum Mutat
, vol.30
, pp. 352-362
-
-
Rosenberger, G.1
Meien, S.2
Kutsche, K.3
-
26
-
-
45749098853
-
A mouse model for Costello syndrome reveals an Ang II-mediated hypertensive condition
-
Schuhmacher AJ, Guerra C, Sauzeau V, Canamero M, Bustelo XR, Barbacid M. 2008. A mouse model for Costello syndrome reveals an Ang II-mediated hypertensive condition. J Clin Invest 118:2169-2179.
-
(2008)
J Clin Invest
, vol.118
, pp. 2169-2179
-
-
Schuhmacher, A.J.1
Guerra, C.2
Sauzeau, V.3
Canamero, M.4
Bustelo, X.R.5
Barbacid, M.6
-
27
-
-
4344574955
-
Growth hormone deficiency in Costello syndrome
-
Stein RI, Legault L, Daneman D, Weksberg R, Hamilton J. 2004. Growth hormone deficiency in Costello syndrome. Am J Med Genet Part A 129A:166-170.
-
(2004)
Am J Med Genet
, vol.129 A
, Issue.PART A
, pp. 166-170
-
-
Stein, R.I.1
Legault, L.2
Daneman, D.3
Weksberg, R.4
Hamilton, J.5
-
28
-
-
0025875847
-
Study of 156 cases of polyhydramnios and congenital malformations in a series of 118,265 consecutive births
-
Stoll CG, Alembik Y, Dott B. 1991. Study of 156 cases of polyhydramnios and congenital malformations in a series of 118,265 consecutive births. Am J Obstet Gynecol 165:586-590.
-
(1991)
Am J Obstet Gynecol
, vol.165
, pp. 586-590
-
-
Stoll, C.G.1
Alembik, Y.2
Dott, B.3
-
29
-
-
33750320906
-
Significant decrease in tropoelastin gene expression in fibroblasts from a Japanese Costello syndrome patient with impaired elastogenesis and enhanced proliferation
-
Tatano Y, Takahashi T, Tsuji D, Takeuchi N, Tsuta K, Takada G, Ohsawa M, Sakuraba H, Itoh K. 2006. Significant decrease in tropoelastin gene expression in fibroblasts from a Japanese Costello syndrome patient with impaired elastogenesis and enhanced proliferation. J Biochem 140:193-200.
-
(2006)
J Biochem
, vol.140
, pp. 193-200
-
-
Tatano, Y.1
Takahashi, T.2
Tsuji, D.3
Takeuchi, N.4
Tsuta, K.5
Takada, G.6
Ohsawa, M.7
Sakuraba, H.8
Itoh, K.9
-
30
-
-
43049118957
-
Clinical report soto Syndrome: Antenatal presentation
-
Thomas A, Lemire EG. 2008. Clinical report soto Syndrome: Antenatal presentation. Am J Med Genet Part A 146A:1312-1313.
-
(2008)
Am J Med Genet
, vol.146 A
, Issue.PART A
, pp. 1312-1313
-
-
Thomas, A.1
Lemire, E.G.2
-
31
-
-
0036114209
-
Prenatal findings in a monozygotic twin pregnancy with Costello syndrome
-
Van den Bosch T, Van Schoubroeck D, Fryns JP, Naulaers G, Inion AM, Devriendt K. 2002. Prenatal findings in a monozygotic twin pregnancy with Costello syndrome. Prenat Diagn 22:415-417.
-
(2002)
Prenat Diagn
, vol.22
, pp. 415-417
-
-
Van den Bosch, T.1
Van Schoubroeck, D.2
Fryns, J.P.3
Naulaers, G.4
Inion, A.M.5
Devriendt, K.6
-
33
-
-
22044432006
-
The adult phenotype in Costello syndrome
-
White SM, Graham JM, Jr., Kerr B, Gripp K, Weksberg R, Cytrynbaum C, Reeder JL, Stewart FJ, Edwards M, Wilson M, Bankier A. 2005. The adult phenotype in Costello syndrome. Am J Med Genet Part A 136A:128-135.
-
(2005)
Am J Med Genet
, vol.136 A
, Issue.PART A
, pp. 128-135
-
-
White, S.M.1
Graham Jr., J.M.2
Kerr, B.3
Gripp, K.4
Weksberg, R.5
Cytrynbaum, C.6
Reeder, J.L.7
Stewart, F.J.8
Edwards, M.9
Wilson, M.10
Bankier, A.11
|