-
1
-
-
0032587313
-
14-3-3Gamma interacts with and is phosphorylated by multiple protein kinase C isoforms in PDGF-stimulated human vascular smooth muscle cells
-
Autieri MV, Carbone CJ. 1999. 14-3-3Gamma interacts with and is phosphorylated by multiple protein kinase C isoforms in PDGF-stimulated human vascular smooth muscle cells. DNA Cell Biol 18: 555-564.
-
(1999)
DNA Cell Biol
, vol.18
, pp. 555-564
-
-
Autieri, M.V.1
Carbone, C.J.2
-
2
-
-
33846571372
-
Expression analysis of the family of 14-3-3 proteins in zebrafish development
-
Besser J, Bagowski CP Salas-Vidal E, van Hemert MJ, Bussmann J, Spaink HP 2007. Expression analysis of the family of 14-3-3 proteins in zebrafish development. Gene Expr Patterns 7: 511-520.
-
(2007)
Gene Expr Patterns
, vol.7
, pp. 511-520
-
-
Besser, J.1
Bagowski, C.P.2
Salas-Vidal, E.3
Van Hemert, M.J.4
Bussmann, J.5
Spaink, H.P.6
-
3
-
-
49349101933
-
Huntington's disease: Roles of huntingtin-interacting protein 1 (HIP-1) and its molecular partner HIPPI in the regulation of apoptosis and transcription
-
Bhattacharyya NP, Banerjee M, Majumder P 2008. Huntington's disease: Roles of huntingtin-interacting protein 1 (HIP-1) and its molecular partner HIPPI in the regulation of apoptosis and transcription. FEBS J 275: 4271-4279.
-
(2008)
FEBS J
, vol.275
, pp. 4271-4279
-
-
Bhattacharyya, N.P.1
Banerjee, M.2
Majumder, P.3
-
4
-
-
33847271581
-
An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism
-
Edelmann L, Prosnitz A, Pardo S, Bhatt J, Cohen N, Lauriat T, Ouchanov L, Gonzalez PJ, Manghi ER, Bondy P Esquivel M, Monge S, Delgado MF, Splendore A, Francke U, Burton BK, Mclnnes LA. 2007. An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism. J Med Genet 44: 136-143.
-
(2007)
J Med Genet
, vol.44
, pp. 136-143
-
-
Edelmann, L.1
Prosnitz, A.2
Pardo, S.3
Bhatt, J.4
Cohen, N.5
Lauriat, T.6
Ouchanov, L.7
Gonzalez, P.J.8
Manghi, E.R.9
Bondy Esquivel, P.M.10
Monge, S.11
Delgado, M.F.12
Splendore, A.13
Francke, U.14
Burton, B.K.15
McLnnes, L.A.16
-
5
-
-
0027185655
-
Hemizygosity at the elastin locus in a developmental disorder Williams syndrome
-
Ewart AK, Morris CA, Atkinson D, Jin W, Sternes K, Spallone P, Stock AD, Leppert M, Keating MT. 1993. Hemizygosity at the elastin locus in a developmental disorder. Williams syndrome. Nat Genet 5: 11-16.
-
(1993)
Nat Genet
, vol.5
, pp. 11-16
-
-
Ewart, A.K.1
Morris, C.A.2
Atkinson, D.3
Jin, W.4
Sternes, K.5
Spallone, P.6
Stock, A.D.7
Leppert, M.8
Keating, M.T.9
-
6
-
-
4544241694
-
A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome
-
Harada N, Visser R, Dawson A, Fukamachi M, Iwakoshi M, Okamoto N, Kishino T, Niikawa N, Matsumoto N. 2004. A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome. J Hum Genet 49: 440-444.
-
(2004)
J Hum Genet
, vol.49
, pp. 440-444
-
-
Harada, N.1
Visser, R.2
Dawson, A.3
Fukamachi, M.4
Iwakoshi, M.5
Okamoto, N.6
Kishino, T.7
Niikawa, N.8
Matsumoto, N.9
-
7
-
-
34147145963
-
Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation
-
Kalscheuer VM, FitzPatrick D, Tommerup N, Bugge M, Niebuhr E, Neumann LM, Tzschach A, Shoichet SA, Menzel C, Erdogan F, Arkesteijn G, Ropers HH, Ullmann R. 2007. Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation. Hum Genet 121: 501-509.
-
(2007)
Hum Genet
, vol.121
, pp. 501-509
-
-
Kalscheuer, V.M.1
Fitzpatrick, D.2
Tommerup, N.3
Bugge, M.4
Niebuhr, E.5
Neumann, L.M.6
Tzschach, A.7
Shoichet, S.A.8
Menzel, C.9
Erdogan, F.10
Arkesteijn, G.11
Ropers, H.H.12
Ullmann, R.13
-
8
-
-
0029045033
-
Stages of embryonic development of the zebrafish
-
Kimmel CB, Ballard WW Kimmel SR, Ullmann B, Schilling TF. 1995. Stages of embryonic development of the zebrafish. Dev Dyn 203: 253-310.
-
(1995)
Dev Dyn
, vol.203
, pp. 253-310
-
-
Kimmel, C.B.1
Ballard, W.W.2
Kimmel, S.R.3
Ullmann, B.4
Schilling, T.F.5
-
9
-
-
4744369365
-
Unmasking 15q12 deletion using microarray-based comparative genomic hybridization in a mentally retarded boy with r(Y)
-
Kurosawa K, Harada N, Sosonkina N, Niikawa N, Matsumoto N, Saitoh S. 2004. Unmasking 15q12 deletion using microarray-based comparative genomic hybridization in a mentally retarded boy with r(Y). Am J Med Genet A 130A: 322-324.
-
(2004)
Am J Med Genet A 130A
, pp. 322-324
-
-
Kurosawa, K.1
Harada, N.2
Sosonkina, N.3
Niikawa, N.4
Matsumoto, N.5
Saitoh, S.6
-
10
-
-
46349099218
-
Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11
-
Marshall CR, Young EJ, Pani AM, Freckmann ML, Lacassie Y Howald C, Fitzgerald KK, Peippo M, Morris CA, Shane K, Priolo M, Morimoto M, Kondo I, Manguoglu E, Berker-Karauzum S, Edery P, Hobart HH, Mervis CB, Zuffardi O, Reymond A, Kaplan P Tassabehji M, Gregg RG, Scherer SW, Osborne LR. 2008. Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11. Am J Hum Genet 83: 106-111.
-
(2008)
Am J Hum Genet
, vol.83
, pp. 106-111
-
-
Marshall, C.R.1
Young, E.J.2
Pani, A.M.3
Freckmann, M.L.4
Lacassie, Y.5
Howald, C.6
Fitzgerald, K.K.7
Peippo, M.8
Morris, C.A.9
Shane, K.10
Priolo, M.11
Morimoto, M.12
Kondo, I.13
Manguoglu, E.14
Berker-Karauzum, S.15
Edery, P.16
Hobart, H.H.17
Mervis, C.B.18
Zuffardi, O.19
Reymond, A.20
Kaplan Tassabehji, P.M.21
Gregg, R.G.22
Scherer, S.W.23
Osborne, L.R.24
more..
-
11
-
-
0035977072
-
14-3-3 proteins mediate an essential anti-apoptotic signal
-
Masters SC, Fu H. 2001. 14-3-3 proteins mediate an essential anti-apoptotic signal. J Biol Chem 276: 45193-45200.
-
(2001)
J Biol Chem
, vol.276
, pp. 45193-45200
-
-
Masters, S.C.1
Fu, H.2
-
12
-
-
0038067733
-
Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome
-
Miyake N, Kurotaki N, Sugawara H, Shimokawa O, Harada N, Kondoh T, Tsukahara M, Ishikiriyama S, Sonoda T, Miyoshi Y, Sakazume S, Fukushima Y, Ohashi H, Nagai T, Kawame H, Kurosawa K, Touyama M, Shiihara T, Okamoto N, Nishimoto J, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. 2003. Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome. Am J Hum Genet 72: 1331-1337.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 1331-1337
-
-
Miyake, N.1
Kurotaki, N.2
Sugawara, H.3
Shimokawa, O.4
Harada, N.5
Kondoh, T.6
Tsukahara, M.7
Ishikiriyama, S.8
Sonoda, T.9
Miyoshi, Y.10
Sakazume, S.11
Fukushima, Y.12
Ohashi, H.13
Nagai, T.14
Kawame, H.15
Kurosawa, K.16
Touyama, M.17
Shiihara, T.18
Okamoto, N.19
Nishimoto, J.20
Yoshiura, K.21
Ohta, T.22
Kishino, T.23
Niikawa, N.24
Matsumoto, N.25
more..
-
13
-
-
31944436453
-
No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients
-
Miyake N, Shimokawa O, Harada N, Sosonkina N, Okubo A, Kawara H, Okamoto N, Ohashi H, Kurosawa K, Naritomi K, Kaname T, Nagai T, Shotelersuk V, Hou JW, Fukushima Y, Kondoh T, Matsumoto T, Shinoki T, Kato M, Tonoki H, Nomura M, Yoshiura K, Kishino T, Ohta T, Niikawa N, Matsumoto N. 2006. No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients. Am J Med Genet A 140: 291-293.
-
(2006)
Am J Med Genet A
, vol.140
, pp. 291-293
-
-
Miyake, N.1
Shimokawa, O.2
Harada, N.3
Sosonkina, N.4
Okubo, A.5
Kawara, H.6
Okamoto, N.7
Ohashi, H.8
Kurosawa, K.9
Naritomi, K.10
Kaname, T.11
Nagai, T.12
Shotelersuk, V.13
Hou, J.W.14
Fukushima, Y.15
Kondoh, T.16
Matsumoto, T.17
Shinoki, T.18
Kato, M.19
Tonoki, H.20
Nomura, M.21
Yoshiura, K.22
Kishino, T.23
Ohta, T.24
Niikawa, N.25
Matsumoto, N.26
more..
-
14
-
-
0031608062
-
Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms
-
Mizugishi K, Yamanaka K, Kuwajima K, Kondo I. 1998. Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms. J Hum Genet 43: 178-181.
-
(1998)
J Hum Genet
, vol.43
, pp. 178-181
-
-
Mizugishi, K.1
Yamanaka, K.2
Kuwajima, K.3
Kondo, I.4
-
15
-
-
10744229708
-
Infantile spasms in a patient with williams syndrome and cranio-synostosis
-
Morimoto M, An B, Ogami A, Shin N, Sugino Y, Sawai Y, Usuku T, Tanaka M, Hirai K, Nishimura A, Hasegawa K, Sugimoto T. 2003. Infantile spasms in a patient with williams syndrome and cranio-synostosis. Epilepsia 44: 1459-1462.
-
(2003)
Epilepsia
, vol.44
, pp. 1459-1462
-
-
Morimoto, M.1
An, B.2
Ogami, A.3
Shin, N.4
Sugino, Y.5
Sawai, Y.6
Usuku, T.7
Tanaka, M.8
Hirai, K.9
Nishimura, A.10
Hasegawa, K.11
Sugimoto, T.12
-
16
-
-
43049143995
-
Genotype-phenotype correlations in Williams-Beuren syndrome
-
Morris CA, Lenhoff HM, Wang PP, editors. Baltimore: The Johns Hopkins University Press
-
Morris CA. 2006. Genotype-phenotype correlations in Williams-Beuren syndrome. In: Morris CA, Lenhoff HM, Wang PP, editors. Williams-Beuren syndrome. Baltimore: The Johns Hopkins University Press. pp 59-82.
-
(2006)
Williams-Beuren Syndrome
, pp. 59-82
-
-
Morris, C.A.1
-
17
-
-
58149488988
-
The 14-3-3 proteins: Integrators of diverse signaling cues that impact cell fate and cancer development
-
Morrison DK. 2009. The 14-3-3 proteins: Integrators of diverse signaling cues that impact cell fate and cancer development. Trends Cell Biol 19: 16-23.
-
(2009)
Trends Cell Biol
, vol.19
, pp. 16-23
-
-
Morrison, D.K.1
-
18
-
-
11144354038
-
Huntingtin Interacting Protein 1 mutations lead to abnormal hematopoiesis, spinal defects and cataracts
-
Oravecz-Wilson KI, Kiel MJ, Li L, Rao DS, Saint-Dic D, KumarPD, Provot MM, Hankenson KD, Reddy VN, Lieberman AP, Morrison SJ, Ross TS. 2004. Huntingtin Interacting Protein 1 mutations lead to abnormal hematopoiesis, spinal defects and cataracts. Hum Mol Genet 13: 851-867.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 851-867
-
-
Oravecz-Wilson, K.I.1
Kiel, M.J.2
Li, L.3
Rao, D.S.4
Saint-Dic, D.5
Kumarpd Provot, M.M.6
Hankenson, K.D.7
Reddy, V.N.8
Lieberman, A.P.9
Morrison, S.J.10
Ross, T.S.11
-
19
-
-
33646903670
-
Dynamic 14-3-3/client protein interactions integrate survival and apoptotic pathways
-
Porter GW Khuri FR, Fu H. 2006. Dynamic 14-3-3/client protein interactions integrate survival and apoptotic pathways. Semin Cancer Biol 16: 193-202.
-
(2006)
Semin Cancer Biol
, vol.16
, pp. 193-202
-
-
Porter, G.W.1
Khuri, F.R.2
Fu, H.3
-
21
-
-
33646485521
-
Reverse genetic analysis of neurogenesis in the zebrafish retina
-
Pujic Z, Omori Y, Tsujikawa M, Thisse B, Thisse C, Malicki J. 2006. Reverse genetic analysis of neurogenesis in the zebrafish retina. Dev Biol 293: 330-347.
-
(2006)
Dev Biol
, vol.293
, pp. 330-347
-
-
Pujic, Z.1
Omori, Y.2
Tsujikawa, M.3
Thisse, B.4
Thisse, C.5
Malicki, J.6
-
22
-
-
0034780505
-
Huntingtin interacting protein 1 Is a clathrin coat binding protein required for differentiation of late spermatogenic progenitors
-
Rao DS, Chang JC, Kumar PD, Mizukami I, Smithson GM, Bradley SV, Parlow AF, Ross TS. 2001. Huntingtin interacting protein 1 Is a clathrin coat binding protein required for differentiation of late spermatogenic progenitors. Mol Cell Biol 21: 7796-7806.
-
(2001)
Mol Cell Biol
, vol.21
, pp. 7796-7806
-
-
Rao, D.S.1
Chang, J.C.2
Kumar, P.D.3
Mizukami, I.4
Smithson, G.M.5
Bradley, S.V.6
Parlow, A.F.7
Ross, T.S.8
-
23
-
-
34547539552
-
Germline gain-of-function mutations in RAF1 cause Noonan syndrome
-
Razzaque MA, Nishizawa T, Komoike Y, Yagi H, Furutani M, Amo R, Kamisago M, Momma K, Katayama H, Nakagawa M, Fujiwara Y, Matsushima M, Mizuno K, Tokuyama M, Hirota H, Muneuchi J, Higashinakagawa T, Matsuoka R. 2007. Germline gain-of-function mutations in RAF1 cause Noonan syndrome. Nat Genet 39: 1013-1017.
-
(2007)
Nat Genet
, vol.39
, pp. 1013-1017
-
-
Razzaque, M.A.1
Nishizawa, T.2
Komoike, Y.3
Yagi, H.4
Furutani, M.5
Amo, R.6
Kamisago, M.7
Momma, K.8
Katayama, H.9
Nakagawa, M.10
Fujiwara, Y.11
Matsushima, M.12
Mizuno, K.13
Tokuyama, M.14
Hirota, H.15
Muneuchi, J.16
Higashinakagawa, T.17
Matsuoka, R.18
-
24
-
-
65249162141
-
Clinical features of microdeletion 9q22.3 (pat)
-
Shimojima K, Adachi M, Tanaka M, Tanaka Y, Kurosawa K, Yamamoto T. 2009a Clinical features of microdeletion 9q22.3 (pat). Clin Genet 75: 384-393.
-
(2009)
Clin Genet
, vol.75
, pp. 384-393
-
-
Shimojima, K.1
Adachi, M.2
Tanaka, M.3
Tanaka, Y.4
Kurosawa, K.5
Yamamoto, T.6
-
25
-
-
70449127067
-
TULIP1 (RALGAPA1) haploinsufficiency with brain development delay
-
Shimojima K, Komoike Y, Tohyama J, Takahashi S, Paez MT, Nakagawa E, Goto Y, Ohno K, Ohtsu M, Oguni H, Osawa M, Higashinakagawa T, Yamamoto T. 2009b. TULIP1 (RALGAPA1) haploinsufficiency with brain development delay. Genomics 94: 414-422.
-
(2009)
Genomics
, vol.94
, pp. 414-422
-
-
Shimojima, K.1
Komoike, Y.2
Tohyama, J.3
Takahashi, S.4
Paez, M.T.5
Nakagawa, E.6
Goto, Y.7
Ohno, K.8
Ohtsu, M.9
Oguni, H.10
Osawa, M.11
Higashinakagawa, T.12
Yamamoto, T.13
-
27
-
-
0036993811
-
Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins
-
Sultana R, Yu CE, Yu J, Munson J, Chen D, Hua W, Estes A, Cortes F, de la Barra F, Yu D, Haider ST, Trask BJ, Green ED, Raskind WH, Dis-teche CM, Wijsman E, Dawson G, Storm DR, Schellenberg GD, Villacres EC. 2002. Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins. Genomics 80: 129-134.
-
(2002)
Genomics
, vol.80
, pp. 129-134
-
-
Sultana, R.1
Yu, C.E.2
Yu, J.3
Munson, J.4
Chen, D.5
Hua, W.6
Estes, A.7
Cortes, F.8
De La Barra, F.9
Yu, D.10
Haider, S.T.11
Trask, B.J.12
Green, E.D.13
Raskind, W.H.14
Dis-Teche, C.M.15
Wijsman, E.16
Dawson, G.17
Storm, D.R.18
Schellenberg, G.D.19
Villacres, E.C.20
more..
-
29
-
-
24344440632
-
The zebrafish gene map defines ancestral vertebrate chromosomes
-
Woods IG, Wilson C, Friedlander B, Chang P, Reyes DK, Nix R, Kelly PD, Chu F, Postlethwait JH, Talbot WS. 2005. The zebrafish gene map defines ancestral vertebrate chromosomes. Genome Res 15: 1307-1314.
-
(2005)
Genome Res
, vol.15
, pp. 1307-1314
-
-
Woods, I.G.1
Wilson, C.2
Friedlander, B.3
Chang, P.4
Reyes, D.K.5
Nix, R.6
Kelly, P.D.7
Chu, F.8
Postlethwait, J.H.9
Talbot, W.S.10
-
30
-
-
0035714840
-
Identification of a human brain-specific gene, calneuron 1, a new member of the calmodulin superfamily
-
Wu YQ, Lin X, Liu CM, Jamrich M, Shaffer LG. 2001. Identification of a human brain-specific gene, calneuron 1, a new member of the calmodulin superfamily. Mol Genet Metab 72: 343-350.
-
(2001)
Mol Genet Metab
, vol.72
, pp. 343-350
-
-
Wu, Y.Q.1
Lin, X.2
Liu, C.M.3
Jamrich, M.4
Shaffer, L.G.5
-
31
-
-
0031811718
-
Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin
-
Wu YQ, Sutton VR, Nickerson E, Lupski JR, Potocki L, Korenberg JR, Greenberg F, Tassabehji M, Shaffer LG. 1998. Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin. Am J Med Genet 78: 82-89.
-
(1998)
Am J Med Genet
, vol.78
, pp. 82-89
-
-
Wu, Y.Q.1
Sutton, V.R.2
Nickerson, E.3
Lupski, J.R.4
Potocki, L.5
Korenberg, J.R.6
Greenberg, F.7
Tassabehji, M.8
Shaffer, L.G.9
|