-
1
-
-
0031687553
-
Focal cortical dysplasia and hemimegalencephaly: Histological and neuroimaging correlations
-
Adamsbaum C, Robain O, Cohen PA, Delalande O, Fohlen M, Kalifa G. 1998. Focal cortical dysplasia and hemimegalencephaly: Histological and neuroimaging correlations. Pediatric Radiology 28:583–590. doi: 10.1007/s002470050421.
-
(1998)
Pediatric Radiology
, vol.28
, pp. 583-590
-
-
Adamsbaum, C.1
Robain, O.2
Cohen, P.A.3
Delalande, O.4
Fohlen, M.5
Kalifa, G.6
-
2
-
-
84864596031
-
Abnormal maturation and differentiation of neocortical neurons in epileptogenic cortical malformation: Unique distribution of layer-specific marker cells of focal cortical dysplasia and hemimegalencephaly
-
Arai A, Saito T, Hanai S, Sukigara S, Nabatame S, Otsuki T, Nakagawa E, Takahashi A, Kaneko Y, Kaido T, Saito Y, Sugai K, Sasaki M, Goto Y, Itoh M. 2012. Abnormal maturation and differentiation of neocortical neurons in epileptogenic cortical malformation: Unique distribution of layer-specific marker cells of focal cortical dysplasia and hemimegalencephaly. Brain Research 1470:89–97. doi: 10.1016/j.brainres.2012.06.009.
-
(2012)
Brain Research
, vol.1470
, pp. 89-97
-
-
Arai, A.1
Saito, T.2
Hanai, S.3
Sukigara, S.4
Nabatame, S.5
Otsuki, T.6
Nakagawa, E.7
Takahashi, A.8
Kaneko, Y.9
Kaido, T.10
Saito, Y.11
Sugai, K.12
, Sas Ki, M.13
Goto, Y.14
Itoh, M.15
-
3
-
-
0035733762
-
Deletion of pten in mouse brain causes seizures, ataxia and defects in soma size resembling lhermitte-duclos disease
-
Backman SA, Stambolic V, Suzuki A, Haight J, Elia A, Pretorius J, Tsao MS, Shannon P, Bolon B, Ivy GO, Mak TW. 2001. Deletion of pten in mouse brain causes seizures, ataxia and defects in soma size resembling lhermitte-duclos disease. Nature Genetics 29:396–403. doi: 10.1038/ng782.
-
(2001)
Nature Genetics
, vol.29
, pp. 396-403
-
-
Backman, S.A.1
Stambolic, V.2
Suzuki, A.3
Haight, J.4
Elia, A.5
Pretorius, J.6
Tsao, M.S.7
Shannon, P.8
Bolon, B.9
Ivy, G.O.10
Mak, T.W.11
-
4
-
-
84949564339
-
An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development
-
Baek ST, Copeland B, Yun EJ, Kwon SK, Guemez-Gamboa A, Schaffer AE, Kim S, Kang HC, Song S, Mathern GW, Gleeson JG. 2015. An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development. Nature Medicine 21:1445–1454. doi: 10.1038/nm.3982.
-
(2015)
Nature Medicine
, vol.21
, pp. 1445-1454
-
-
Baek, S.T.1
Copeland, B.2
Yun, E.J.3
Kwon, S.K.4
Guemez-Gamboa, A.5
Schaffer, A.E.6
Kim, S.7
Kang, H.C.8
Song, S.9
Mathern, G.W.10
Gleeson, J.G.11
-
5
-
-
33645316796
-
Focal cortical dysplasia: Prevalence, clinical presentation and epilepsy in children and adults
-
Bast T, Ramantani G, Seitz A, Rating D. 2006. Focal cortical dysplasia: Prevalence, clinical presentation and epilepsy in children and adults. Acta Neurologica Scandinavica 113:72–81. doi: 10.1111/j.1600-0404.2005.00555.x.
-
(2006)
Acta Neurologica Scandinavica
, vol.113
, pp. 72-81
-
-
Bast, T.1
Ramantani, G.2
Seitz, A.3
Rating, D.4
-
6
-
-
65449171160
-
The developmental integration of cortical interneurons into a functional network
-
Batista-Brito R, Fishell G. 2009. The developmental integration of cortical interneurons into a functional network. Current Topics in Developmental Biology 87:81–118. doi: 10.1016/S0070-2153(09)01203-4.
-
(2009)
Current Topics in Developmental Biology
, vol.87
, pp. 81-118
-
-
Batista-Brito, R.1
Fishell, G.2
-
7
-
-
84856071447
-
Phase i, dose-escalation study of BKM120, an oral pan-class i PI3K inhibitor, in patients with advanced solid tumors
-
Bendell JC, Rodon J, Burris HA, de Jonge M, Verweij J, Birle D, Demanse D, De Buck SS, Ru QC, Peters M, Goldbrunner M, Baselga J. 2012. Phase i, dose-escalation study of BKM120, an oral pan-class i PI3K inhibitor, in patients with advanced solid tumors. Journal of Clinical Oncology 30:282–290. doi: 10.1200/JCO.2011.36.1360.
-
(2012)
Journal of Clinical Oncology
, vol.30
, pp. 282-290
-
-
Bendell, J.C.1
Rodon, J.2
Burris, H.A.3
De Jonge, M.4
Verweij, J.5
Birle, D.6
Demanse, D.7
De Buck, S.S.8
Ru, Q.C.9
Peters, M.10
Goldbrunner, M.11
Baselga, J.12
-
8
-
-
79751537645
-
Advances in MRI for ’cryptogenic’ epilepsies. Nature Reviews
-
Bernasconi A, Bernasconi N, Bernhardt BC, Schrader D. 2011. Advances in MRI for ’cryptogenic’ epilepsies. Nature Reviews. Neurology 7:99–108. doi: 10.1038/nrneurol.2010.199.
-
(2011)
Neurology
, vol.7
, pp. 99-108
-
-
Bernasconi, A.1
Bernasconi, N.2
Bernhardt, B.C.3
Schrader, D.4
-
9
-
-
0028019256
-
Electroencephalography. Journal of Neurology
-
Binnie CD, Prior PF. 1994. Electroencephalography. Journal of Neurology, Neurosurgery & Psychiatry 57:1308–1319. doi: 10.1136/jnnp.57.11.1308.
-
(1994)
Neurosurgery & Psychiatry
, vol.57
, pp. 1308-1319
-
-
Binnie, C.D.1
Prior, P.F.2
-
10
-
-
78651274775
-
The clinicopathologic spectrum of focal cortical dysplasias: A consensus classification proposed by an ad hoc task force of the ILAE diagnostic methods commission
-
Blümcke I, Thom M, Aronica E, Armstrong DD, Vinters HV, Palmini A, Jacques TS, Avanzini G, Barkovich AJ, Battaglia G, Becker A, Cepeda C, Cendes F, Colombo N, Crino P, Cross JH, Delalande O, Dubeau F, Duncan J, Guerrini R, Kahane P, Mathern G, Najm I, Ozkara C, Raybaud C, Represa A, Roper SN, Salamon N, Schulze-Bonhage A, Tassi L, Vezzani A, Spreafico R. 2011. The clinicopathologic spectrum of focal cortical dysplasias: A consensus classification proposed by an ad hoc task force of the ILAE diagnostic methods commission. Epilepsia 52:158–174. doi: 10.1111/j.1528-1167.2010.02777.x.
-
(2011)
Epilepsia
, vol.52
, pp. 158-174
-
-
Blümcke, I.1
Thom, M.2
Aronica, E.3
Armstrong, D.D.4
Vinters, H.V.5
Palmini, A.6
Jacques, T.S.7
Avanzini, G.8
Barkovich, A.J.9
Battaglia, G.10
Becker, A.11
Cepeda, C.12
Cendes, F.13
Colombo, N.14
Crino, P.15
Cross, J.H.16
Delalande, O.17
Dubeau, F.18
Duncan, J.19
Guerrini, R.20
Kahane, P.21
Mathern, G.22
Najm, I.23
Ozkara, C.24
Raybaud, C.25
Represa, A.26
Roper, S.N.27
Salamon, N.28
Schulze-Bonhage, A.29
Tassi, L.30
Vezzani, A.31
Spreafico, R.32
more..
-
11
-
-
84864885418
-
Characterization of the mechanism of action of the pan class i PI3K inhibitor NVP-BKM120 across a broad range of concentrations
-
Brachmann SM, Kleylein-Sohn J, Gaulis S, Kauffmann A, Blommers MJ, Kazic-Legueux M, Laborde L, Hattenberger M, Stauffer F, Vaxelaire J, Romanet V, Henry C, Murakami M, Guthy DA, Sterker D, Bergling S, Wilson C, Brümmendorf T, Fritsch C, Garcia-Echeverria C, Sellers WR, Hofmann F, Maira SM. 2012. Characterization of the mechanism of action of the pan class i PI3K inhibitor NVP-BKM120 across a broad range of concentrations. Molecular Cancer Therapeutics 11:1747–1757. doi: 10.1158/1535-7163.MCT-11-1021.
-
(2012)
Molecular Cancer Therapeutics
, vol.11
, pp. 1747-1757
-
-
Brachmann, S.M.1
Kleylein-Sohn, J.2
Gaulis, S.3
Kauffmann, A.4
Blommers, M.J.5
Kazic-Legueux, M.6
Laborde, L.7
Hattenberger, M.8
Stauffer, F.9
Vaxelaire, J.10
Romanet, V.11
Henry, C.12
Murakami, M.13
Guthy, D.A.14
Sterker, D.15
Bergling, S.16
Wilson, C.17
Brümmendorf, T.18
Fritsch, C.19
Garcia-Echeverria, C.20
Sellers, W.R.21
Hofmann, F.22
Maira, S.M.23
more..
-
12
-
-
84876852762
-
Diverse mechanisms of AKT pathway activation in human malignancy
-
Cheung M, R. Testa J. 2013. Diverse mechanisms of AKT pathway activation in human malignancy. Curr Cancer Drug Targets 13:234–244. doi: 10.2174/1568009611313030002.
-
(2013)
Curr Cancer Drug Targets
, vol.13
, pp. 234-244
-
-
Cheung, M.1
Testa, R.2
-
13
-
-
33746273239
-
The roof plate regulates cerebellar cell-type specification and proliferation
-
Chizhikov VV, Lindgren AG, Currle DS, Rose MF, Monuki ES, Millen KJ. 2006. The roof plate regulates cerebellar cell-type specification and proliferation. Development 133:2793–2804. doi: 10.1242/dev.02441.
-
(2006)
Development
, vol.133
, pp. 2793-2804
-
-
Chizhikov, V.V.1
Lindgren, A.G.2
Currle, D.S.3
Rose, M.F.4
Monuki, E.S.5
Millen, K.J.6
-
14
-
-
84905906618
-
Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis. American
-
Cohen AS, Townsend KN, Xiang QS, Attariwala R, Borchers C, Senger C, Picker W, Levi J, Yewchuk L, Tan J, Eydoux P, Lum A, Yong SL, McKinnon ML, Lear SA, Everett R, Jones SJ, Yip S, Gibson WT. 2014. Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis. American Journal of Medical Genetics. Part A 164A:2360–2364. doi: 10.1002/ajmg.a.36622.
-
(2014)
Journal of Medical Genetics. Part A
, vol.164A
, pp. 2360-2364
-
-
Cohen, A.S.1
Townsend, K.N.2
Xiang, Q.S.3
Attariwala, R.4
Borchers, C.5
Senger, C.6
Picker, W.7
Levi, J.8
Yewchuk, L.9
Tan, J.10
Eydoux, P.11
Lum, A.12
Yong, S.L.13
McKinnon, M.L.14
Lear, S.A.15
Everett, R.16
Jones, S.J.17
Yip, S.18
Gibson, W.T.19
-
15
-
-
37249078686
-
Neuroimaging findings in macrocephaly-capillary malformation: A longitudinal study of 17 patients. American
-
Conway RL, Pressman BD, Dobyns WB, Danielpour M, Lee J, Sanchez-Lara PA, Butler MG, Zackai E, Campbell L, Saitta SC, Clericuzio CL, Milunsky JM, Hoyme HE, Shieh J, Moeschler JB, Crandall B, Lauzon JL, Viskochil DH, Harding B, Graham JM. 2007. Neuroimaging findings in macrocephaly-capillary malformation: A longitudinal study of 17 patients. American Journal of Medical Genetics. Part A 143A:2981–3008. doi: 10.1002/ajmg.a.32040.
-
(2007)
Journal of Medical Genetics. Part A
, vol.143A
, pp. 2981-3008
-
-
Conway, R.L.1
Pressman, B.D.2
Dobyns, W.B.3
Danielpour, M.4
Lee, J.5
Sanchez-Lara, P.A.6
Butler, M.G.7
Zackai, E.8
Campbell, L.9
Saitta, S.C.10
Clericuzio, C.L.11
Milunsky, J.M.12
Hoyme, H.E.13
Shieh, J.14
Moeschler, J.B.15
Crandall, B.16
Lauzon, J.L.17
Viskochil, D.H.18
Harding, B.19
Graham, J.M.20
more..
-
16
-
-
84879070549
-
MTOR inhibitors as a new therapeutic option for epilepsy
-
Curatolo P, Moavero R. 2013. MTOR inhibitors as a new therapeutic option for epilepsy. Expert Review of Neurotherapeutics 13:627–638. doi: 10.1586/ern.13.49.
-
(2013)
Expert Review of Neurotherapeutics
, vol.13
, pp. 627-638
-
-
Curatolo, P.1
Moavero, R.2
-
17
-
-
84925674581
-
Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia
-
D’Gama AM, Geng Y, Couto JA, Martin B, Boyle EA, LaCoursiere CM, Hossain A, Hatem NE, Barry BJ, Kwiatkowski DJ, Vinters HV, Barkovich AJ, Shendure J, Mathern GW, Walsh CA, Poduri A. 2015. Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. Annals of Neurology 77:720–725. doi: 10.1002/ana.24357.
-
(2015)
Annals of Neurology
, vol.77
, pp. 720-725
-
-
D’Gama, A.M.1
Geng, Y.2
Couto, J.A.3
Martin, B.4
Boyle, E.A.5
Lacoursiere, C.M.6
Hossain, A.7
Hatem, N.E.8
Barry, B.J.9
Kwiatkowski, D.J.10
Vinters, H.V.11
Barkovich, A.J.12
Shendure, J.13
Mathern, G.W.14
Walsh, C.A.15
Poduri, A.16
-
18
-
-
0026669226
-
Neuropathologic findings in surgically treated hemimegalencephaly: Immunohistochemical, morphometric, and ultrastructural study
-
De Rosa MJ, Secor DL, Barsom M, Fisher RS, Vinters HV. 1992. Neuropathologic findings in surgically treated hemimegalencephaly: Immunohistochemical, morphometric, and ultrastructural study. Acta Neuropathologica 84:250–260. doi: 10.1007/BF00227817.
-
(1992)
Acta Neuropathologica
, vol.84
, pp. 250-260
-
-
De Rosa, M.J.1
Secor, D.L.2
Barsom, M.3
Fisher, R.S.4
Vinters, H.V.5
-
19
-
-
0037369413
-
Clinical outcomes of hemispherectomy for epilepsy in childhood and adolescence
-
Devlin AM, Cross JH, Harkness W, Chong WK, Harding B, Vargha-Khadem F, Neville BG. 2003. Clinical outcomes of hemispherectomy for epilepsy in childhood and adolescence. Brain 126:556–566. doi: 10.1093/brain/awg052.
-
(2003)
Brain
, vol.126
, pp. 556-566
-
-
Devlin, A.M.1
Cross, J.H.2
Harkness, W.3
Chong, W.K.4
Harding, B.5
Vargha-Khadem, F.6
Neville, B.G.7
-
20
-
-
67749122122
-
Targeting PI3K signalling in cancer: Opportunities, challenges and limitations. Nature Reviews
-
Engelman JA. 2009. Targeting PI3K signalling in cancer: Opportunities, challenges and limitations. Nature Reviews. Cancer 9:550–562. doi: 10.1038/nrc2664.
-
(2009)
Cancer
, vol.9
, pp. 550-562
-
-
Engelman, J.A.1
-
21
-
-
84921723502
-
Long-term seizure outcome in 211 patients with focal cortical dysplasia
-
Fauser S, Essang C, Altenmüller DM, Staack AM, Steinhoff BJ, Strobl K, Bast T, Schubert-Bast S, Stephani U, Wiegand G, Prinz M, Brandt A, Zentner J, Schulze-Bonhage A. 2015. Long-term seizure outcome in 211 patients with focal cortical dysplasia. Epilepsia 56:66–76. doi: 10.1111/epi.12876.
-
(2015)
Epilepsia
, vol.56
, pp. 66-76
-
-
Fauser, S.1
Essang, C.2
Altenmüller, D.M.3
Staack, A.M.4
Steinhoff, B.J.5
Strobl, K.6
Bast, T.7
Schubert-Bast, S.8
Stephani, U.9
Wiegand, G.10
Prinz, M.11
Brandt, A.12
Zentner, J.13
Schulze-Bonhage, A.14
-
22
-
-
33745699801
-
Clinical characteristics in focal cortical dysplasia: A retrospective evaluation in a series of 120 patients
-
Fauser S, Huppertz HJ, Bast T, Strobl K, Pantazis G, Altenmueller DM, Feil B, Rona S, Kurth C, Rating D, Korinthenberg R, Steinhoff BJ, Volk B, Schulze-Bonhage A. 2006. Clinical characteristics in focal cortical dysplasia: A retrospective evaluation in a series of 120 patients. Brain 129:1907–1916. doi: 10.1093/brain/awl133.
-
(2006)
Brain
, vol.129
, pp. 1907-1916
-
-
Fauser, S.1
Huppertz, H.J.2
Bast, T.3
Strobl, K.4
Pantazis, G.5
Altenmueller, D.M.6
Feil, B.7
Rona, S.8
Kurth, C.9
Rating, D.10
Korinthenberg, R.11
Steinhoff, B.J.12
Volk, B.13
Schulze-Bonhage, A.14
-
23
-
-
37849027524
-
Phosphatase and tensin homolog, deleted on chromosome 10 deficiency in brain causes defects in synaptic structure, transmission and plasticity, and myelination abnormalities
-
Fraser MM, Bayazitov IT, Zakharenko SS, Baker SJ. 2008. Phosphatase and tensin homolog, deleted on chromosome 10 deficiency in brain causes defects in synaptic structure, transmission and plasticity, and myelination abnormalities. Neuroscience 151:476–488. doi: 10.1016/j.neuroscience.2007.10.048.
-
(2008)
Neuroscience
, vol.151
, pp. 476-488
-
-
Fraser, M.M.1
Bayazitov, I.T.2
Zakharenko, S.S.3
Baker, S.J.4
-
24
-
-
7444264727
-
Pten loss causes hypertrophy and increased proliferation of astrocytes in vivo
-
Fraser MM, Zhu X, Kwon CH, Uhlmann EJ, Gutmann DH, Baker SJ. 2004. Pten loss causes hypertrophy and increased proliferation of astrocytes in vivo. Cancer Research 64:7773–7779. doi: 10.1158/0008-5472.CAN-04-2487.
-
(2004)
Cancer Research
, vol.64
, pp. 7773-7779
-
-
Fraser, M.M.1
Zhu, X.2
Kwon, C.H.3
Uhlmann, E.J.4
Gutmann, D.H.5
Baker, S.J.6
-
25
-
-
0033757592
-
Hypoglycaemia, liver necrosis and perinatal death in mice lacking all isoforms of phosphoinositide 3-kinase p85 alpha
-
Fruman DA, Mauvais-Jarvis F, Pollard DA, Yballe CM, Brazil D, Bronson RT, Kahn CR, Cantley LC. 2000. Hypoglycaemia, liver necrosis and perinatal death in mice lacking all isoforms of phosphoinositide 3-kinase p85 alpha. Nature Genetics 26:379–382. doi: 10.1038/81715.
-
(2000)
Nature Genetics
, vol.26
, pp. 379-382
-
-
Fruman, D.A.1
Mauvais-Jarvis, F.2
Pollard, D.A.3
Yballe, C.M.4
Brazil, D.5
Bronson, R.T.6
Kahn, C.R.7
Cantley, L.C.8
-
26
-
-
34249931118
-
Class IA phosphoinositide 3-kinases are obligate p85-p110 heterodimers
-
Geering B, Cutillas PR, Nock G, Gharbi SI, Vanhaesebroeck B. 2007. Class IA phosphoinositide 3-kinases are obligate p85-p110 heterodimers. Proceedings of the National Academy of Sciences of the United States of America 104:7809–7814. doi: 10.1073/pnas.0700373104.
-
(2007)
Proceedings of the National Academy of Sciences of the United States of America
, vol.104
, pp. 7809-7814
-
-
Geering, B.1
Cutillas, P.R.2
Nock, G.3
Gharbi, S.I.4
Vanhaesebroeck, B.5
-
27
-
-
84956924848
-
Controversial issues on EEG after sleep deprivation for the diagnosis of epilepsy
-
Giorgi FS, Maestri M, Guida M, Di Coscio E, Carnicelli L, Perini D, Pizzanelli C, Iudice A, Bonanni E. 2013. Controversial issues on EEG after sleep deprivation for the diagnosis of epilepsy. Epilepsy Research and Treatment 2013:1–5 doi: 10.1155/2013/614685.
-
(2013)
Epilepsy Research and Treatment
, pp. 1-5
-
-
Giorgi, F.S.1
Maestri, M.2
Guida, M.3
Di Coscio, E.4
Carnicelli, L.5
Perini, D.6
Pizzanelli, C.7
Iudice, A.8
Bonanni, E.9
-
28
-
-
84859159497
-
FGFR3, PIK3CA and RAS mutations in benign lichenoid keratosis
-
Groesser L, Herschberger E, Landthaler M, Hafner C. 2012. FGFR3, PIK3CA and RAS mutations in benign lichenoid keratosis. The British Journal of Dermatology 166:784–788. doi: 10.1111/j.1365-2133.2011.10788.x.
-
(2012)
The British Journal of Dermatology
, vol.166
, pp. 784-788
-
-
Groesser, L.1
Herschberger, E.2
Landthaler, M.3
Hafner, C.4
-
30
-
-
34548069945
-
Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern
-
Hafner C, Lopez-Knowles E, Luis NM, Toll A, Baselga E, Fernandez-Casado A, Hernandez S, Ribe A, Mentzel T, Stoehr R, Hofstaedter F, Landthaler M, Vogt T, Pujol RM, Hartmann A, Real FX. 2007. Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern. Proceedings of the National Academy of Sciences of the United States of America 104:13450–13454. doi: 10.1073/pnas.0705218104.
-
(2007)
Proceedings of the National Academy of Sciences of the United States of America
, vol.104
, pp. 13450-13454
-
-
Hafner, C.1
Lopez-Knowles, E.2
Luis, N.M.3
Toll, A.4
Baselga, E.5
Fernandez-Casado, A.6
Hernandez, S.7
Ribe, A.8
Mentzel, T.9
Stoehr, R.10
Hofstaedter, F.11
Landthaler, M.12
Vogt, T.13
Pujol, R.M.14
Hartmann, A.15
Real, F.X.16
-
31
-
-
32044466838
-
Exploiting the PI3K/AKT pathway for cancer drug discovery
-
Hennessy BT, Smith DL, Ram PT, Lu Y, Mills GB. 2005. Exploiting the PI3K/AKT pathway for cancer drug discovery. Nature Reviews. Drug Discovery 4:988–1004. doi: 10.1038/nrd1902.
-
(2005)
Nature Reviews. Drug Discovery
, vol.4
, pp. 988-1004
-
-
Hennessy, B.T.1
Smith, D.L.2
Ram, P.T.3
Lu, Y.4
Mills, G.B.5
-
32
-
-
0028858337
-
Genetic analysis of benign, low-grade, and high-grade ovarian tumors
-
Iwabuchi H, Sakamoto M, Sakunaga H, Ma YY, Carcangiu ML, Pinkel D, Yang-Feng TL, Gray JW. 1995. Genetic analysis of benign, low-grade, and high-grade ovarian tumors. Cancer Research 55:6172–6180.
-
(1995)
Cancer Research
, vol.55
, pp. 6172-6180
-
-
Iwabuchi, H.1
Sakamoto, M.2
Sakunaga, H.3
Ma, Y.Y.4
Carcangiu, M.L.5
Pinkel, D.6
Yang-Feng, T.L.7
Gray, J.W.8
-
33
-
-
84939654470
-
PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia
-
Jansen LA, Mirzaa GM, Ishak GE, O’Roak BJ, Hiatt JB, Roden WH, Gunter SA, Christian SL, Collins S, Adams C, Riviè re J-B, St-Onge J, Ojemann JG, Shendure J, Hevner RF, Dobyns WB. 2015. PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia. Brain 138:1613–628. doi: 10.1093/brain/awv045.
-
(2015)
Brain
, vol.138
, pp. 1613-1628
-
-
Jansen, L.A.1
Mirzaa, G.M.2
Ishak, G.E.3
O’Roak, B.J.4
Hiatt, J.B.5
Roden, W.H.6
Gunter, S.A.7
Christian, S.L.8
Collins, S.9
Adams, C.10
Riviè Re, J.-B.11
St-Onge, J.12
Ojemann, J.G.13
Shendure, J.14
Hevner, R.F.15
Dobyns, W.B.16
-
34
-
-
84939654470
-
PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia
-
Jansen LA, Mirzaa GM, Ishak GE, O’Roak BJ, Hiatt JB, Roden WH, Gunter SA, Christian SL, Collins S, Adams C, Riviè re JB, St-Onge J, Ojemann JG, Shendure J, Hevner RF, Dobyns WB. 2015.;in press PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia. Brain : A Journal of Neurology 138:1613–1628. doi: 10.1093/brain/awv045.
-
(2015)
Brain : A Journal of Neurology
, vol.138
, pp. 1613-1628
-
-
Jansen, L.A.1
Mirzaa, G.M.2
Ishak, G.E.3
O’Roak, B.J.4
Hiatt, J.B.5
Roden, W.H.6
Gunter, S.A.7
Christian, S.L.8
Collins, S.9
Adams, C.10
Riviè Re, J.B.11
St-Onge, J.12
Ojemann, J.G.13
Shendure, J.14
Hevner, R.F.15
Dobyns, W.B.16
-
35
-
-
84925078527
-
Sleep impairment and reduced interneuron excitability in a mouse model of dravet syndrome
-
Kalume F, Oakley JC, Westenbroek RE, Gile J, de la Iglesia HO, Scheuer T, Catterall WA. 2015. Sleep impairment and reduced interneuron excitability in a mouse model of dravet syndrome. Neurobiology of Disease 77:141–154. doi: 10.1016/j.nbd.2015.02.016.
-
(2015)
Neurobiology of Disease
, vol.77
, pp. 141-154
-
-
Kalume, F.1
Oakley, J.C.2
Westenbroek, R.E.3
Gile, J.4
De La Iglesia, H.O.5
Scheuer, T.6
Catterall, W.A.7
-
36
-
-
84886295135
-
Sudden unexpected death in dravet syndrome: Respiratory and other physiological dysfunctions
-
Kalume F. 2013. Sudden unexpected death in dravet syndrome: Respiratory and other physiological dysfunctions. Respiratory Physiology & Neurobiology 189:324–328. doi: 10.1016/j.resp.2013.06.026.
-
(2013)
Respiratory Physiology & Neurobiology
, vol.189
, pp. 324-328
-
-
Kalume, F.1
-
37
-
-
84902543512
-
Clinical delineation and natural history of the PIK3CA- related overgrowth spectrum
-
Keppler-Noreuil KM, Sapp JC, Lindhurst MJ, Parker VE, Blumhorst C, Darling T, Tosi LL, Huson SM, Whitehouse RW, Jakkula E, Grant I, Balasubramanian M, Chandler KE, Fraser JL, Gucev Z, Crow YJ, Brennan LM, Clark R, Sellars EA, Pena LD, Krishnamurty V, Shuen A, Braverman N, Cunningham ML, Sutton VR, Tasic V, Graham JM, Geer J, Henderson A, Semple RK, Biesecker LG. 2014. Clinical delineation and natural history of the PIK3CA- related overgrowth spectrum. American Journal of Medical Genetics 164A:1713–1733. doi: 10.1002/ajmg.a.36552.
-
(2014)
American Journal of Medical Genetics
, vol.164A
, pp. 1713-1733
-
-
Keppler-Noreuil, K.M.1
Sapp, J.C.2
Lindhurst, M.J.3
Parker, V.E.4
Blumhorst, C.5
Darling, T.6
Tosi, L.L.7
Huson, S.M.8
Whitehouse, R.W.9
Jakkula, E.10
Grant, I.11
Balasubramanian, M.12
Chandler, K.E.13
Fraser, J.L.14
Gucev, Z.15
Crow, Y.J.16
Brennan, L.M.17
Clark, R.18
Sellars, E.A.19
Pena, L.D.20
Krishnamurty, V.21
Shuen, A.22
Braverman, N.23
Cunningham, M.L.24
Sutton, V.R.25
Tasic, V.26
Graham, J.M.27
Geer, J.28
Henderson, A.29
Semple, R.K.30
Biesecker, L.G.31
more..
-
38
-
-
84856527983
-
An activating Pik3ca mutation coupled with pten loss is sufficient to initiate ovarian tumorigenesis in mice
-
Kinross KM, Montgomery KG, Kleinschmidt M, Waring P, Ivetac I, Tikoo A, Saad M, Hare L, Roh V, Mantamadiotis T, Sheppard KE, Ryland GL, Campbell IG, Gorringe KL, Christensen JG, Cullinane C, Hicks RJ, Pearson RB, Johnstone RW, McArthur GA, Phillips WA. 2012. An activating Pik3ca mutation coupled with pten loss is sufficient to initiate ovarian tumorigenesis in mice. The Journal of Clinical Investigation 122:553–557. doi: 10.1172/JCI59309.
-
(2012)
The Journal of Clinical Investigation
, vol.122
, pp. 553-557
-
-
Kinross, K.M.1
Montgomery, K.G.2
Kleinschmidt, M.3
Waring, P.4
Ivetac, I.5
Tikoo, A.6
Saad, M.7
Hare, L.8
Roh, V.9
Mantamadiotis, T.10
Sheppard, K.E.11
Ryland, G.L.12
Campbell, I.G.13
Gorringe, K.L.14
Christensen, J.G.15
Cullinane, C.16
Hicks, R.J.17
Pearson, R.B.18
Johnstone, R.W.19
McArthur, G.A.20
Phillips, W.A.21
more..
-
39
-
-
30544442753
-
Regulation of dendritic morphogenesis by ras-PI3K-akt- mTOR and ras-MAPK signaling pathways
-
Kumar V, Zhang MX, Swank MW, Kunz J, Wu GY. 2005. Regulation of dendritic morphogenesis by ras-PI3K-akt- mTOR and ras-MAPK signaling pathways. The Journal of Neuroscience 25:11288–11299. doi: 10.1523/ JNEUROSCI.2284-05.2005.
-
(2005)
The Journal of Neuroscience
, vol.25
, pp. 11288-11299
-
-
Kumar, V.1
Zhang, M.X.2
Swank, M.W.3
Kunz, J.4
Wu, G.Y.5
-
40
-
-
84862129718
-
Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome
-
Kurek KC, Luks VL, Ayturk UM, Alomari AI, Fishman SJ, Spencer SA, Mulliken JB, Bowen ME, Yamamoto GL, Kozakewich HP, Warman ML. 2012. Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. American Journal of Human Genetics 90:1108–1115. doi: 10.1016/j.ajhg.2012.05.006.
-
(2012)
American Journal of Human Genetics
, vol.90
, pp. 1108-1115
-
-
Kurek, K.C.1
Luks, V.L.2
Ayturk, U.M.3
Alomari, A.I.4
Fishman, S.J.5
Spencer, S.A.6
Mulliken, J.B.7
Bowen, M.E.8
Yamamoto, G.L.9
Kozakewich, H.P.10
Warman, M.L.11
-
41
-
-
0035734381
-
Pten regulates neuronal soma size: A mouse model of lhermitte-duclos disease
-
Kwon CH, Zhu X, Zhang J, Knoop LL, Tharp R, Smeyne RJ, Eberhart CG, Burger PC, Baker SJ. 2001. Pten regulates neuronal soma size: A mouse model of lhermitte-duclos disease. Nature Genetics 29:404–411. doi: 10.1038/ng781.
-
(2001)
Nature Genetics
, vol.29
, pp. 404-411
-
-
Kwon, C.H.1
Zhu, X.2
Zhang, J.3
Knoop, L.L.4
Tharp, R.5
Smeyne, R.J.6
Eberhart, C.G.7
Burger, P.C.8
Baker, S.J.9
-
42
-
-
84864402732
-
De novo somatic mutations in components of the PI3K- AKT3-mTOR pathway cause hemimegalencephaly
-
Lee JH, Huynh M, Silhavy JL, Kim S, Dixon-Salazar T, Heiberg A, Scott E, Bafna V, Hill KJ, Collazo A, Funari V, Russ C, Gabriel SB, Mathern GW, Gleeson JG. 2012. De novo somatic mutations in components of the PI3K- AKT3-mTOR pathway cause hemimegalencephaly. Nature Genetics 44:941–945. doi: 10.1038/ng.2329.
-
(2012)
Nature Genetics
, vol.44
, pp. 941-945
-
-
Lee, J.H.1
Huynh, M.2
Silhavy, J.L.3
Kim, S.4
Dixon-Salazar, T.5
Heiberg, A.6
Scott, E.7
Bafna, V.8
Hill, K.J.9
Collazo, A.10
Funari, V.11
Russ, C.12
Gabriel, S.B.13
Mathern, G.W.14
Gleeson, J.G.15
-
43
-
-
84931090578
-
Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy
-
Lim JS, Kim WI, Kang HC, Kim SH, Park AH, Park EK, Cho YW, Kim S, Kim HM, Kim JA, Kim J, Rhee H, Kang SG, Kim HD, Kim D, Kim DS, Lee JH. 2015. Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy. Nature Medicine 21:395–400. doi: 10.1038/nm.3824.
-
(2015)
Nature Medicine
, vol.21
, pp. 395-400
-
-
Lim, J.S.1
Kim, W.I.2
Kang, H.C.3
Kim, S.H.4
Park, A.H.5
Park, E.K.6
Cho, Y.W.7
Kim, S.8
Kim, H.M.9
Kim, J.A.10
Kim, J.11
Rhee, H.12
Kang, S.G.13
Kim, H.D.14
Kim, D.15
Kim, D.S.16
Lee, J.H.17
-
44
-
-
84864409793
-
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA
-
Lindhurst MJ, Parker VE, Payne F, Sapp JC, Rudge S, Harris J, Witkowski AM, Zhang Q, Groeneveld MP, Scott CE, Daly A, Huson SM, Tosi LL, Cunningham ML, Darling TN, Geer J, Gucev Z, Sutton VR, Tziotzios C, Dixon AK, Helliwell T, O’Rahilly S, Savage DB, Wakelam MJ, Barroso I, Biesecker LG, Semple RK. 2012. Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. Nature Genetics 44:928–933. doi: 10.1038/ng.2332.
-
(2012)
Nature Genetics
, vol.44
, pp. 928-933
-
-
Lindhurst, M.J.1
Parker, V.E.2
Payne, F.3
Sapp, J.C.4
Rudge, S.5
Harris, J.6
Witkowski, A.M.7
Zhang, Q.8
Groeneveld, M.P.9
Scott, C.E.10
Daly, A.11
Huson, S.M.12
Tosi, L.L.13
Cunningham, M.L.14
Darling, T.N.15
Geer, J.16
Gucev, Z.17
Sutton, V.R.18
Tziotzios, C.19
Dixon, A.K.20
Helliwell, T.21
O’Rahilly, S.22
Savage, D.B.23
Wakelam, M.J.24
Barroso, I.25
Biesecker, L.G.26
Semple, R.K.27
more..
-
45
-
-
80052490834
-
Oncogenic PIK3CA-driven mammary tumors frequently recur via PI3K pathway-dependent and PI3K pathway-independent mechanisms
-
Liu P, Cheng H, Santiago S, Raeder M, Zhang F, Isabella A, Yang J, Semaan DJ, Chen C, Fox EA, Gray NS, Monahan J, Schlegel R, Beroukhim R, Mills GB, Zhao JJ. 2011. Oncogenic PIK3CA-driven mammary tumors frequently recur via PI3K pathway-dependent and PI3K pathway-independent mechanisms. Nature Medicine 17:1116–1120. doi: 10.1038/nm.2402.
-
(2011)
Nature Medicine
, vol.17
, pp. 1116-1120
-
-
Liu, P.1
Cheng, H.2
Santiago, S.3
Raeder, M.4
Zhang, F.5
Isabella, A.6
Yang, J.7
Semaan, D.J.8
Chen, C.9
Fox, E.A.10
Gray, N.S.11
Monahan, J.12
Schlegel, R.13
Beroukhim, R.14
Mills, G.B.15
Zhao, J.J.16
-
46
-
-
84933279834
-
Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA
-
Luks VL, Kamitaki N, Vivero MP, Uller W, Rab R, Bové e JV, Rialon KL, Guevara CJ, Alomari AI, Greene AK, Fishman SJ, Kozakewich HP, Maclellan RA, Mulliken JB, Rahbar R, Spencer SA, Trenor CC, Upton J, Zurakowski D, Perkins JA, Kirsh A, Bennett JT, Dobyns WB, Kurek KC, Warman ML, McCarroll SA, Murillo R. 2015. Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA. The Journal of Pediatrics 166:1048–1054. doi: 10.1016/j.jpeds.2014.12.069.
-
(2015)
The Journal of Pediatrics
, vol.166
, pp. 1048-1054
-
-
Luks, V.L.1
Kamitaki, N.2
Vivero, M.P.3
Uller, W.4
Rab, R.5
Bové E, J.V.6
Rialon, K.L.7
Guevara, C.J.8
Alomari, A.I.9
Greene, A.K.10
Fishman, S.J.11
Kozakewich, H.P.12
Maclellan, R.A.13
Mulliken, J.B.14
Rahbar, R.15
Spencer, S.A.16
Trenor, C.C.17
Upton, J.18
Zurakowski, D.19
Perkins, J.A.20
Kirsh, A.21
Bennett, J.T.22
Dobyns, W.B.23
Kurek, K.C.24
Warman, M.L.25
McCarroll, S.A.26
Murillo, R.27
more..
-
47
-
-
0017961549
-
Specific antagonism of GABA-mediated postsynaptic inhibition in cultured mammalian spinal cord neurons: A common mode of convulsant action
-
Macdonald RL, Barker JL. 1978. Specific antagonism of GABA-mediated postsynaptic inhibition in cultured mammalian spinal cord neurons: A common mode of convulsant action. Neurology 28:325–330. doi: 10.1212/WNL.28.4.325.
-
(1978)
Neurology
, vol.28
, pp. 325-330
-
-
Macdonald, R.L.1
Barker, J.L.2
-
48
-
-
84856826293
-
Identification and characterization of NVP-BKM120, an orally available pan-class i PI3-kinase inhibitor
-
Maira SM, Pecchi S, Huang A, Burger M, Knapp M, Sterker D, Schnell C, Guthy D, Nagel T, Wiesmann M, Brachmann S, Fritsch C, Dorsch M, Chè ne P, Shoemaker K, De Pover A, Menezes D, Martiny-Baron G, Fabbro D, Wilson CJ, Schlegel R, Hofmann F, García-Echeverría C, Sellers WR, Voliva CF. 2012. Identification and characterization of NVP-BKM120, an orally available pan-class i PI3-kinase inhibitor. Molecular Cancer Therapeutics 11:317–328. doi: 10.1158/1535-7163.MCT-11-0474.
-
(2012)
Molecular Cancer Therapeutics
, vol.11
, pp. 317-328
-
-
Maira, S.M.1
Pecchi, S.2
Huang, A.3
Burger, M.4
Knapp, M.5
Sterker, D.6
Schnell, C.7
Guthy, D.8
Nagel, T.9
Wiesmann, M.10
Brachmann, S.11
Fritsch, C.12
Dorsch, M.13
Chè Ne, P.14
Shoemaker, K.15
De Pover, A.16
Menezes, D.17
Martiny-Baron, G.18
Fabbro, D.19
Wilson, C.J.20
Schlegel, R.21
Hofmann, F.22
García-Echeverría, C.23
Sellers, W.R.24
Voliva, C.F.25
more..
-
49
-
-
79959860167
-
Luminal expression of PIK3CA mutant H1047R in the mammary gland induces heterogeneous tumors
-
Meyer DS, Brinkhaus H, Müller U, Müller M, Cardiff RD, Bentires-Alj M. 2011. Luminal expression of PIK3CA mutant H1047R in the mammary gland induces heterogeneous tumors. Cancer Research 71:4344–4351. doi: 10.1158/0008-5472.CAN-10-3827.
-
(2011)
Cancer Research
, vol.71
, pp. 4344-4351
-
-
Meyer, D.S.1
Brinkhaus, H.2
Müller, U.3
Müller, M.4
Cardiff, R.D.5
Bentires-Alj, M.6
-
50
-
-
34447503808
-
Mechanism of two classes of cancer mutations in the phosphoinositide 3-kinase catalytic subunit
-
Miled N, Yan Y, Hon WC, Perisic O, Zvelebil M, Inbar Y, Schneidman-Duhovny D, Wolfson HJ, Backer JM, Williams RL. 2007. Mechanism of two classes of cancer mutations in the phosphoinositide 3-kinase catalytic subunit. Science 317:239–242. doi: 10.1126/science.1135394.
-
(2007)
Science
, vol.317
, pp. 239-242
-
-
Miled, N.1
Yan, Y.2
Hon, W.C.3
Perisic, O.4
Zvelebil, M.5
Inbar, Y.6
Schneidman-Duhovny, D.7
Wolfson, H.J.8
Backer, J.M.9
Williams, R.L.10
-
51
-
-
84856219440
-
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly- polymicrogyria-hydrocephalus (mPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis
-
Mirzaa GM, Conway RL, Gripp KW, Lerman-Sagie T, Siegel DH, deVries LS, Lev D, Kramer N, Hopkins E, Graham JM, Dobyns WB. 2012. Megalencephaly-capillary malformation (mCAP) and megalencephaly-polydactyly- polymicrogyria-hydrocephalus (mPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. American Journal of Medical Genetics. Part A 158A:269–291. doi: 10.1002/ajmg.a.34402.
-
(2012)
American Journal of Medical Genetics. Part A
, vol.158A
, pp. 269-291
-
-
Mirzaa, G.M.1
Conway, R.L.2
Gripp, K.W.3
Lerman-Sagie, T.4
Siegel, D.H.5
Devries, L.S.6
Lev, D.7
Kramer, N.8
Hopkins, E.9
Graham, J.M.10
Dobyns, W.B.11
-
52
-
-
84947037237
-
Impaired reelin-Dab1 signaling contributes to neuronal migration deficits of tuberous sclerosis complex
-
Moon UY, Park JY, Park R, Cho JY, Hughes LJ, McKenna J, Goetzl L, Cho SH, Crino PB, Gambello MJ, Kim S. 2015. Impaired reelin-Dab1 signaling contributes to neuronal migration deficits of tuberous sclerosis complex. Cell Reports 12:965–978. doi: 10.1016/j.celrep.2015.07.013.
-
(2015)
Cell Reports
, vol.12
, pp. 965-978
-
-
Moon, U.Y.1
Park, J.Y.2
Park, R.3
Cho, J.Y.4
Hughes, L.J.5
McKenna, J.6
Goetzl, L.7
Cho, S.H.8
Crino, P.B.9
Gambello, M.J.10
Kim, S.11
-
53
-
-
84922469410
-
Activating PIK3CA alleles and lymphangiogenic phenotype of lymphatic endothelial cells isolated from lymphatic malformations
-
Osborn AJ, Dickie P, Neilson DE, Glaser K, Lynch KA, Gupta A, Dickie BH. 2015. Activating PIK3CA alleles and lymphangiogenic phenotype of lymphatic endothelial cells isolated from lymphatic malformations Human Molecular Genetics 24:926–938. doi: 10.1093/hmg/ddu505.
-
(2015)
Human Molecular Genetics
, vol.24
, pp. 926-938
-
-
Osborn, A.J.1
Dickie, P.2
Neilson, D.E.3
Glaser, K.4
Lynch, K.A.5
Gupta, A.6
Dickie, B.H.7
-
54
-
-
0036314647
-
Surgical pathology of drug-resistant partial epilepsy. A 10-year-experience with a series of 327 consecutive resections
-
Pasquier B, Pe´ oc’H M, Fabre-Bocquentin B, Bensaadi L, Pasquier D, Hoffmann D, Kahane P, Tassi L, Le Bas JF, Benabid AL. 2002. Surgical pathology of drug-resistant partial epilepsy. a 10-year-experience with a series of 327 consecutive resections. Epileptic Disorders 4:99–119 .
-
(2002)
Epileptic Disorders
, vol.4
, pp. 99-119
-
-
Pasquier, B.1
Pe´, O.H.M.2
Fabre-Bocquentin, B.3
Bensaadi, L.4
Pasquier, D.5
Hoffmann, D.6
Kahane, P.7
Tassi, L.8
Le Bas, J.F.9
Benabid, A.L.10
-
55
-
-
0015309163
-
Modification of seizure activity by electrical stimulation. II. Motor seizure
-
Racine RJ. 1972. Modification of seizure activity by electrical stimulation. II. motor seizure. Electroencephalography and Clinical Neurophysiology 32:281–294. doi: 10.1016/0013-4694(72)90177-0.
-
(1972)
Electroencephalography and Clinical Neurophysiology
, vol.32
, pp. 281-294
-
-
Racine, R.J.1
-
56
-
-
84872373752
-
Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly
-
Rios JJ, Paria N, Burns DK, Israel BA, Cornelia R, Wise CA, Ezaki M. 2013. Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly. Human Molecular Genetics 22:444–451. doi: 10.1093/hmg/dds440.
-
(2013)
Human Molecular Genetics
, vol.22
, pp. 444-451
-
-
Rios, J.J.1
Paria, N.2
Burns, D.K.3
Israel, B.A.4
Cornelia, R.5
Wise, C.A.6
Ezaki, M.7
-
57
-
-
84864400015
-
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
-
Finding of Rare Disease Genes (FORGE) Canada Consortium
-
Riviè re JB, Mirzaa GM, O’Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, Albrecht B, Armour CM, Armstrong L, Caluseriu O, Cytrynbaum C, Drolet BA, Innes AM, Lauzon JL, Lin AE, Mancini GM, Meschino WS, Reggin JD, Saggar AK, Lerman-Sagie T, Uyanik G, Weksberg R, Zirn B, Beaulieu CL, Majewski J, Bulman DE, O’Driscoll M, Shendure J, Graham JM, Boycott KM, Dobyns WB. Finding of Rare Disease Genes (FORGE) Canada Consortium. 2012. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nature Genetics 44:934–940. doi: 10.1038/ng.2331.
-
(2012)
Nature Genetics
, vol.44
, pp. 934-940
-
-
Rivière, J.B.1
Mirzaa, G.M.2
O’Roak, B.J.3
Beddaoui, M.4
Alcantara, D.5
Conway, R.L.6
St-Onge, J.7
Schwartzentruber, J.A.8
Gripp, K.W.9
Nikkel, S.M.10
Worthylake, T.11
Sullivan, C.T.12
Ward, T.R.13
Butler, H.E.14
Kramer, N.A.15
Albrecht, B.16
Armour, C.M.17
Armstrong, L.18
Caluseriu, O.19
Cytrynbaum, C.20
Drolet, B.A.21
Innes, A.M.22
Lauzon, J.L.23
Lin, A.E.24
Mancini, G.M.25
Meschino, W.S.26
Reggin, J.D.27
Saggar, A.K.28
Lerman-Sagie, T.29
Uyanik, G.30
Weksberg, R.31
Zirn, B.32
Beaulieu, C.L.33
Majewski, J.34
Bulman, D.E.35
O’Driscoll, M.36
Shendure, J.37
Graham, J.M.38
Boycott, K.M.39
Dobyns, W.B.40
more..
-
58
-
-
84864444165
-
Novel mutations target distinct subgroups of medulloblastoma
-
Robinson G, Parker M, Kranenburg TA, Lu C, Chen X, Ding L, Phoenix TN, Hedlund E, Wei L, Zhu X, Chalhoub N, Baker SJ, Huether R, Kriwacki R, Curley N, Thiruvenkatam R, Wang J, Wu G, Rusch M, Hong X, Becksfort J, Gupta P, Ma J, Easton J, Vadodaria B, Onar-Thomas A, Lin T, Li S, Pounds S, Paugh S, Zhao D, Kawauchi D, Roussel MF, Finkelstein D, Ellison DW, Lau CC, Bouffet E, Hassall T, Gururangan S, Cohn R, Fulton RS, Fulton LL, Dooling DJ, Ochoa K, Gajjar A, Mardis ER, Wilson RK, Downing JR, Zhang J, Gilbertson RJ. 2012. Novel mutations target distinct subgroups of medulloblastoma. Nature 488:43–48. doi: 10.1038/nature11213.
-
(2012)
Nature
, vol.488
, pp. 43-48
-
-
Robinson, G.1
Parker, M.2
Kranenburg, T.A.3
Lu, C.4
Chen, X.5
Ding, L.6
Phoenix, T.N.7
Hedlund, E.8
Wei, L.9
Zhu, X.10
Chalhoub, N.11
Baker, S.J.12
Huether, R.13
Kriwacki, R.14
Curley, N.15
Thiruvenkatam, R.16
Wang, J.17
Wu, G.18
Rusch, M.19
Hong, X.20
Becksfort, J.21
Gupta, P.22
Ma, J.23
Easton, J.24
Vadodaria, B.25
Onar-Thomas, A.26
Lin, T.27
Li, S.28
Pounds, S.29
Paugh, S.30
Zhao, D.31
Kawauchi, D.32
Roussel, M.F.33
Finkelstein, D.34
Ellison, D.W.35
Lau, C.C.36
Bouffet, E.37
Hassall, T.38
Gururangan, S.39
Cohn, R.40
Fulton, R.S.41
Fulton, L.L.42
Dooling, D.J.43
Ochoa, K.44
Gajjar, A.45
Mardis, E.R.46
Wilson, R.K.47
Downing, J.R.48
Zhang, J.49
Gilbertson, R.J.50
more..
-
59
-
-
84921435661
-
Layer-specific gene expression in epileptogenic type II focal cortical dysplasia: Normal-looking neurons reveal the presence of a hidden laminar organization
-
Rossini L, Medici V, Tassi L, Cardinale F, Tringali G, Bramerio M, Villani F, Spreafico R, Garbelli R. 2014. Layer-specific gene expression in epileptogenic type II focal cortical dysplasia: Normal-looking neurons reveal the presence of a hidden laminar organization. Acta Neuropathologica Communications 2:45. doi: 10.1186/2051-5960-2-45.
-
(2014)
Acta Neuropathologica Communications
, vol.2
, pp. 45
-
-
Rossini, L.1
Medici, V.2
Tassi, L.3
Cardinale, F.4
Tringali, G.5
Bramerio, M.6
Villani, F.7
Spreafico, R.8
Garbelli, R.9
-
60
-
-
0141994819
-
Focal cortical resection in malformations of cortical development
-
Russo GL, Tassi L, Cossu M, Cardinale F, Mai R, Castana L, Colombo N, Bramerio M. 2003. Focal cortical resection in malformations of cortical development. Epileptic Disorders 5 Suppl 2:S115–123.
-
(2003)
Epileptic Disorders
, vol.5
, Issue.2
-
-
Russo, G.L.1
Tassi, L.2
Cossu, M.3
Cardinale, F.4
Mai, R.5
Castana, L.6
Colombo, N.7
Bramerio, M.8
-
61
-
-
31544478559
-
Contralateral hemimicrencephaly and clinical- pathological correlations in children with hemimegalencephaly
-
Salamon N, Andres M, Chute DJ, Nguyen ST, Chang JW, Huynh MN, Chandra PS, Andre VM, Cepeda C, Levine MS, Leite JP, Neder L, Vinters HV, Mathern GW. 2006. Contralateral hemimicrencephaly and clinical- pathological correlations in children with hemimegalencephaly. Brain 129:352–365. doi: 10.1093/brain/awh681.
-
(2006)
Brain
, vol.129
, pp. 352-365
-
-
Salamon, N.1
Res, M.2
Chute, D.J.3
Nguyen, S.T.4
Chang, J.W.5
Huynh, M.N.6
Chandra, P.S.7
Re, V.M.8
Cepeda, C.9
Levine, M.S.10
Leite, J.P.11
Neder, L.12
Vinters, H.V.13
Mathern, G.W.14
-
62
-
-
79952108510
-
Oncogenic mutations of PIK3CA in human cancers
-
Samuels Y, Waldman T. 2011. Oncogenic mutations of PIK3CA in human cancers. Curr Top Microbiol Immunol 347:21–41. doi: 10.1007/82_2010_68.
-
(2011)
Curr Top Microbiol Immunol
, vol.347
, pp. 21-41
-
-
Samuels, Y.1
Waldman, T.2
-
63
-
-
38449101296
-
Tuberous sclerosis: A primary pathology of astrocytes?
-
Sosunov AA, Wu X, Weiner HL, Mikell CB, Goodman RR, Crino PD, McKhann GM. 2008. Tuberous sclerosis: A primary pathology of astrocytes? Epilepsia 49 Suppl 2:53–62. doi: 10.1111/j.1528-1167.2008.01493.x.
-
(2008)
Epilepsia
, vol.49
, Issue.2
, pp. 53-62
-
-
Sosunov, A.A.1
Wu, X.2
Weiner, H.L.3
Mikell, C.B.4
Goodman, R.R.5
Crino, P.D.6
McKhann, G.M.7
-
64
-
-
51049118140
-
An integrative genomic and proteomic analysis of PIK3CA, PTEN, and AKT mutations in breast cancer
-
Stemke-Hale K, Gonzalez-Angulo AM, Lluch A, Neve RM, Kuo WL, Davies M, Carey M, Hu Z, Guan Y, Sahin A, Symmans WF, Pusztai L, Nolden LK, Horlings H, Berns K, Hung MC, van de Vijver MJ, Valero V, Gray JW, Bernards R, Mills GB, Hennessy BT. 2008. An integrative genomic and proteomic analysis of PIK3CA, PTEN, and AKT mutations in breast cancer. Cancer Research 68:6084–6091. doi: 10.1158/0008-5472.CAN-07-6854.
-
(2008)
Cancer Research
, vol.68
, pp. 6084-6091
-
-
Stemke-Hale, K.1
Gonzalez-Angulo, A.M.2
Lluch, A.3
Neve, R.M.4
Kuo, W.L.5
Davies, M.6
Carey, M.7
Hu, Z.8
Guan, Y.9
Sahin, A.10
Symmans, W.F.11
Pusztai, L.12
Nolden, L.K.13
Horlings, H.14
Berns, K.15
Hung, M.C.16
Van De Vijver, M.J.17
Valero, V.18
Gray, J.W.19
Bernards, R.20
Mills, G.B.21
Hennessy, B.T.22
more..
-
65
-
-
0036345752
-
Focal cortical dysplasia: Neuropathological subtypes, EEG, neuroimaging and surgical outcome
-
Tassi L, Colombo N, Garbelli R, Francione S, Lo Russo G, Mai R, Cardinale F, Cossu M, Ferrario A, Galli C, Bramerio M, Citterio A, Spreafico R. 2002. Focal cortical dysplasia: Neuropathological subtypes, EEG, neuroimaging and surgical outcome. Brain 125:1719–1732. doi: 10.1093/brain/awf175.
-
(2002)
Brain
, vol.125
, pp. 1719-1732
-
-
Tassi, L.1
Colombo, N.2
Garbelli, R.3
Francione, S.4
Lo Russo, G.5
Mai, R.6
Cardinale, F.7
Cossu, M.8
Ferrario, A.9
Galli, C.10
Bramerio, M.11
Citterio, A.12
Spreafico, R.13
-
66
-
-
84876806696
-
Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP
-
Tatton-Brown K, Weksberg R. 2013. Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP. American Journal of Medical Genetics Part C 163:122–130. doi: 10.1002/ajmg.c.31361.
-
(2013)
American Journal of Medical Genetics Part C
, vol.163
, pp. 122-130
-
-
Tatton-Brown, K.1
Weksberg, R.2
-
67
-
-
33750456480
-
Reverse phase protein array: Validation of a novel proteomic technology and utility for analysis of primary leukemia specimens and hematopoietic stem cells
-
Tibes R, Qiu Y, Lu Y, Hennessy B, Andreeff M, Mills GB, Kornblau SM. 2006. Reverse phase protein array: validation of a novel proteomic technology and utility for analysis of primary leukemia specimens and hematopoietic stem cells. Molecular Cancer Therapeutics 5:2512–2521. doi: 10.1158/1535-7163.MCT-06-0334.
-
(2006)
Molecular Cancer Therapeutics
, vol.5
, pp. 2512-2521
-
-
Tibes, R.1
Qiu, Y.2
Lu, Y.3
Hennessy, B.4
Reeff, M.5
Mills, G.B.6
Kornblau, S.M.7
-
68
-
-
84877338156
-
MTOR and epileptogenesis in developmental brain malformations
-
Wong M, Crino PB. 2012. MTOR and epileptogenesis in developmental brain malformations. Epilepsia:835–844. doi: 10.1093/med/9780199746545.003.0065.
-
(2012)
Epilepsia
, pp. 835-844
-
-
Wong, M.1
Crino, P.B.2
-
69
-
-
0031887249
-
Regulation of the p85/p110 phosphatidylinositol 3’-kinase: Stabilization and inhibition of the p110alpha catalytic subunit by the p85 regulatory subunit
-
Yu J, Zhang Y, McIlroy J, Rordorf-Nikolic T, Orr GA, Backer JM. 1998. Regulation of the p85/p110 phosphatidylinositol 3’-kinase: Stabilization and inhibition of the p110alpha catalytic subunit by the p85 regulatory subunit. Molecular and Cellular Biology 18:1379–1387. doi: 10.1128/MCB.18.3.1379.
-
(1998)
Molecular and Cellular Biology
, vol.18
, pp. 1379-1387
-
-
Yu, J.1
Zhang, Y.2
McIlroy, J.3
Rordorf-Nikolic, T.4
Orr, G.A.5
Backer, J.M.6
-
70
-
-
84872613150
-
Conditional activation of Pik3ca(H1047R) in a knock-in mouse model promotes mammary tumorigenesis and emergence of mutations
-
Yuan W, Stawiski E, Janakiraman V, Chan E, Durinck S, Edgar KA, Kljavin NM, Rivers CS, Gnad F, Roose-Girma M, Haverty PM, Fedorowicz G, Heldens S, Soriano RH, Zhang Z, Wallin JJ, Johnson L, Merchant M, Modrusan Z, Stern HM, Seshagiri S. 2013. Conditional activation of Pik3ca(H1047R) in a knock-in mouse model promotes mammary tumorigenesis and emergence of mutations. Oncogene 32:318–326. doi: 10.1038/onc.2012.53.
-
(2013)
Oncogene
, vol.32
, pp. 318-326
-
-
Yuan, W.1
Stawiski, E.2
Janakiraman, V.3
Chan, E.4
Durinck, S.5
Edgar, K.A.6
Kljavin, N.M.7
Rivers, C.S.8
Gnad, F.9
Roose-Girma, M.10
Haverty, P.M.11
Fedorowicz, G.12
Heldens, S.13
Soriano, R.H.14
Zhang, Z.15
Wallin, J.J.16
Johnson, L.17
Merchant, M.18
Modrusan, Z.19
Stern, H.M.20
Seshagiri, S.21
more..
-
71
-
-
42949140259
-
Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex
-
Zeng LH, Xu L, Gutmann DH, Wong M. 2008. Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex. Annals of Neurology 63:444–453. doi: 10.1002/ana.21331.
-
(2008)
Annals of Neurology
, vol.63
, pp. 444-453
-
-
Zeng, L.H.1
Xu, L.2
Gutmann, D.H.3
Wong, M.4
-
72
-
-
84862776902
-
Pentylenetetrazole-induced seizures cause acute, but not chronic, mTOR pathway activation in rat
-
Zhang B, Wong M. 2012. Pentylenetetrazole-induced seizures cause acute, but not chronic, mTOR pathway activation in rat. Epilepsia 53:506–511. doi: 10.1111/j.1528-1167.2011.03384.x.
-
(2012)
Epilepsia
, vol.53
, pp. 506-511
-
-
Zhang, B.1
Wong, M.2
-
73
-
-
40649096375
-
Helical domain and kinase domain mutations in p110 of phosphatidylinositol 3-kinase induce gain of function by different mechanisms
-
Zhao L, Vogt PK. 2008. Helical domain and kinase domain mutations in p110 of phosphatidylinositol 3-kinase induce gain of function by different mechanisms. Proceedings of the National Academy of Sciences of the United States of America 105:2652–2657. doi: 10.1073/pnas.0712169105.
-
(2008)
Proceedings of the National Academy of Sciences of the United States of America
, vol.105
, pp. 2652-2657
-
-
Zhao, L.1
Vogt, P.K.2
-
74
-
-
84865217428
-
Pten deletion causes mTorc1-dependent ectopic neuroblast differentiation without causing uniform migration defects
-
Zhu G, Chow LM, Bayazitov IT, Tong Y, Gilbertson RJ, Zakharenko SS, Solecki DJ, Baker SJ. 2012. Pten deletion causes mTorc1-dependent ectopic neuroblast differentiation without causing uniform migration defects. Development 139:3422–3431. doi: 10.1242/dev.083154.
-
(2012)
Development
, vol.139
, pp. 3422-3431
-
-
Zhu, G.1
Chow, L.M.2
Bayazitov, I.T.3
Tong, Y.4
Gilbertson, R.J.5
Zakharenko, S.S.6
Solecki, D.J.7
Baker, S.J.8
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