-
1
-
-
33748781446
-
Role of MAPKs in development and differentiation: Lessons from knockout mice
-
Aoadi M, Binetruy B, Caron L, Le Marchand-Brustel Y, Bost F. 2006. Role of MAPKs in development and differentiation: Lessons from knockout mice. Biochemie 88: 1091-1098.
-
(2006)
Biochemie
, vol.88
, pp. 1091-1098
-
-
Aoadi, M.1
Binetruy, B.2
Caron, L.3
Le Marchand-Brustel, Y.4
Bost, F.5
-
2
-
-
38749129175
-
22q11.2 distal deletion: A recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome
-
Ben-Shachar S, Ou Z, Shaw CA, Belmont JW, Patel MS, Hummel M, Amato S, Tartaglia N, Berg J, Reid-Sutton V, Lalani SR, Chinault AC, Cheung SW, Lupski JR, Patel A. 2008. 22q11.2 distal deletion: A recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. Am J Med Genet 82: 214-221.
-
(2008)
Am J Med Genet
, vol.82
, pp. 214-221
-
-
Ben-Shachar, S.1
Ou, Z.2
Shaw, C.A.3
Belmont, J.W.4
Patel, M.S.5
Hummel, M.6
Amato, S.7
Tartaglia, N.8
Berg, J.9
Reid-Sutton, V.10
Lalani, S.R.11
Chinault, A.C.12
Cheung, S.W.13
Lupski, J.R.14
Patel, A.15
-
3
-
-
65649090165
-
Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH
-
Bittel DC, Yu S, Newkirk H, Kibiryeva N, Holt-III A, Butler MN, Colley LD. 2009. Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH. Cytogenet Genome Res 124: 113-120.
-
(2009)
Cytogenet Genome Res
, vol.124
, pp. 113-120
-
-
Bittel, D.C.1
Yu, S.2
Newkirk, H.3
Kibiryeva, N.4
Holt-III, A.5
Butler, M.N.6
Colley, L.D.7
-
4
-
-
64549106899
-
Identification of familial and de novo microduplications of 22q11.21-q11.23 distal microdeletion syndrome region
-
Coppinger J, McDonald-McGinn D, Zackai E, Shane K, Atkin JF, Asamoah A, Leland R, Weaver DD, Lansky-Shafer S, Schmidt K, Feldman H, Cohen W, Phalin J, Powell B, Ballif BC, Theisen A, Geiger E, Haldeman-Englert C, Shaikh TH, Saitta S, Bejjani BA, Shaffer LG. 2009. Identification of familial and de novo microduplications of 22q11.21-q11.23 distal microdeletion syndrome region. Hum Mol Genet 18: 1377-1383.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 1377-1383
-
-
Coppinger, J.1
McDonald-McGinn, D.2
Zackai, E.3
Shane, K.4
Atkin, J.F.5
Asamoah, A.6
Leland, R.7
Weaver, D.D.8
Lansky-Shafer, S.9
Schmidt, K.10
Feldman, H.11
Cohen, W.12
Phalin, J.13
Powell, B.14
Ballif, B.C.15
Theisen, A.16
Geiger, E.17
Haldeman-Englert, C.18
Shaikh, T.H.19
Saitta, S.20
Bejjani, B.A.21
Shaffer, L.G.22
more..
-
5
-
-
0031844288
-
The annual incidence of DiGeorge/velocardiofacial syndrome
-
Devriendt K, Fryns JP. 1998. The annual incidence of DiGeorge/velocardiofacial syndrome. J Med Genet 35: 789-790.
-
(1998)
J Med Genet
, vol.35
, pp. 789-790
-
-
Devriendt, K.1
Fryns, J.P.2
-
6
-
-
0036132265
-
An investigation of the neuropsychological profile in adults with velo-cardio-facial syndrome (VCFS)
-
Henry JC, Van Amelsvoort T, Morris RG, Owen MJ, Murphy DGM, Murphy KC. 2002. An investigation of the neuropsychological profile in adults with velo-cardio-facial syndrome (VCFS). Neuropsychologia 40: 471-478.
-
(2002)
Neuropsychologia
, vol.40
, pp. 471-478
-
-
Henry, J.C.1
Van Amelsvoort, T.2
Morris, R.G.3
Owen, M.J.4
Murphy, D.G.M.5
Murphy, K.C.6
-
7
-
-
40549140095
-
Detailed analyses of 22q11.2 with a high density MLPA probe set
-
Jalali GR, Vorstman JAS, Errami A, Vijzelaar R, Biegel J, Shaikh T, Emanuel BS. 2008. Detailed analyses of 22q11.2 with a high density MLPA probe set. Hum Mutat 29: 433-440.
-
(2008)
Hum Mutat
, vol.29
, pp. 433-440
-
-
Jalali, G.R.1
Vorstman, J.A.S.2
Errami, A.3
Vijzelaar, R.4
Biegel, J.5
Shaikh, T.6
Emanuel, B.S.7
-
8
-
-
38449087801
-
A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene
-
Mikhail FM, Descartes M, Piotrowski A, Andersson R, Diaz deStåhl, Komorowski J, Bruder CEG, Dumanski JP, Carroll AJ. 2007. A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene. Am J Med Genet Part A 143A: 2178-2184.
-
(2007)
Am J Med Genet Part A
, vol.143 A
, pp. 2178-2184
-
-
Mikhail, F.M.1
Descartes, M.2
Piotrowski, A.3
Andersson, R.4
Diaz, deS.5
Komorowski, J.6
Bruder, C.E.G.7
Dumanski, J.P.8
Carroll, A.J.9
-
9
-
-
0032882849
-
High rates of schizophrenia in adults with velo-cardio-facial syndrome
-
Murphy KC, Jones LA, Owen MJ. 1999. High rates of schizophrenia in adults with velo-cardio-facial syndrome. Arch Gen Psychiatry 56: 940-945.
-
(1999)
Arch Gen Psychiatry
, vol.56
, pp. 940-945
-
-
Murphy, K.C.1
Jones, L.A.2
Owen, M.J.3
-
10
-
-
55949088852
-
Mouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest development
-
Newbern J, Zhong J, Wickramasinghe R, Li X, Wu Y, Samuels I, Cherosky N, Karlo JC, O'Louhgin B, Wikenheiser J, Gargesha M, Doughman YQ, Charron J, Ginty DD, Watanabe M, Saitta SC, Snider WD, Landreth GE. 2008. Mouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest development. PNAS 105: 17115-17120.
-
(2008)
PNAS
, vol.105
, pp. 17115-17120
-
-
Newbern, J.1
Zhong, J.2
Wickramasinghe, R.3
Li, X.4
Wu, Y.5
Samuels, I.6
Cherosky, N.7
Karlo, J.C.8
O'Louhgin, B.9
Wikenheiser, J.10
Gargesha, M.11
Doughman, Y.Q.12
Charron, J.13
Ginty, D.D.14
Watanabe, M.15
Saitta, S.C.16
Snider, W.D.17
Landreth, G.E.18
-
11
-
-
60849108041
-
Autism. ADHD, mental retardation and behavior problems in 100 individuals with 22q11 deletion syndrome
-
Niklasson L, Rasmussen P, Óskarsdóttir S, Gillberg C. 2009. Autism. ADHD, mental retardation and behavior problems in 100 individuals with 22q11 deletion syndrome. Res Div Disabil 30: 763-773.
-
(2009)
Res Div Disabil
, vol.30
, pp. 763-773
-
-
Niklasson, L.1
Rasmussen, P.2
Óskarsdóttir, S.3
Gillberg, C.4
-
12
-
-
0029853761
-
Bipolar spectrum disorders in patients diagnosed with velo-cadio-facial syndrome: Does a hemizygous deletion of chromosome 22q11 result in bipolar affective disorder?
-
Papolos DF, Gianni GL, Faedda L, Veit S, Goldberg R, Morrow B, Kucherlapati R, Shprintzen RJ. 1996. Bipolar spectrum disorders in patients diagnosed with velo-cadio-facial syndrome: Does a hemizygous deletion of chromosome 22q11 result in bipolar affective disorder? Am J Psychiatry 153: 1541-1547.
-
(1996)
Am J Psychiatry
, vol.153
, pp. 1541-1547
-
-
Papolos, D.F.1
Gianni, G.L.2
Faedda, L.3
Veit, S.4
Goldberg, R.5
Morrow, B.6
Kucherlapati, R.7
Shprintzen, R.J.8
-
13
-
-
44149113011
-
Candidate genes and the behavioral phenotype in 22q11.2 deletion syndrome
-
Prasad SE, Howley S, Murphy KC. 2008. Candidate genes and the behavioral phenotype in 22q11.2 deletion syndrome. Dev Dis Res Rev 14: 26-34.
-
(2008)
Dev Dis Res Rev
, vol.14
, pp. 26-34
-
-
Prasad, S.E.1
Howley, S.2
Murphy, K.C.3
-
14
-
-
0033071959
-
A novel 22q11.2 microdeletion in DiGeorge syndrome
-
Rauch A, Pfeiffer RA, Leipold G, Singe H, Tigges M, Hofbeck M. 1999. A novel 22q11.2 microdeletion in DiGeorge syndrome. Am J Hum Genet 64: 659-667.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 659-667
-
-
Rauch, A.1
Pfeiffer, R.A.2
Leipold, G.3
Singe, H.4
Tigges, M.5
Hofbeck, M.6
-
15
-
-
27744574086
-
Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2
-
Rauch A, Zink S, Zweier C, Thiel CT, Koch A, Rauch R, Lascorz J, Hüffmeier U, Weyand M, Singer H, Hofbeck M. 2005. Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2. J Med Genet 42: 871-876.
-
(2005)
J Med Genet
, vol.42
, pp. 871-876
-
-
Rauch, A.1
Zink, S.2
Zweier, C.3
Thiel, C.T.4
Koch, A.5
Rauch, R.6
Lascorz, J.7
Hüffmeier, U.8
Weyand, M.9
Singer, H.10
Hofbeck, M.11
-
16
-
-
56649088234
-
1.4 Mb recurrent 22q11.2 distal deletion syndrome, two new cases expand the phenotype
-
Rødningen OK, Prescott T, Eriksson AS, Røsby O. 2008. 1.4 Mb recurrent 22q11.2 distal deletion syndrome, two new cases expand the phenotype. Eur J Med Genet 51: 646-650.
-
(2008)
Eur J Med Genet
, vol.51
, pp. 646-650
-
-
Rødningen, O.K.1
Prescott, T.2
Eriksson, A.S.3
Røsby, O.4
-
17
-
-
0033362091
-
A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects
-
Saitta SC, McGrath JM, Mensch H, Shaikh TH, Zackai EH, Emanuel BS. 1999. A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects. Am J Hum Genet 64: 562-566.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 562-566
-
-
Saitta, S.C.1
McGrath, J.M.2
Mensch, H.3
Shaikh, T.H.4
Zackai, E.H.5
Emanuel, B.S.6
-
18
-
-
10744220154
-
Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion
-
Saitta SC, Harris SE, Gaeth AP, Driscoll DA, McDonald-McGinn DM, Maisenbacher MK, Yersak JM, Chakraborty PK, Hacker AM, Zackai EH, Ashley T, Emanuel BS. 2004. Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion. Hum Mol Genet 13: 417-428.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 417-428
-
-
Saitta, S.C.1
Harris, S.E.2
Gaeth, A.P.3
Driscoll, D.A.4
McDonald-McGinn, D.M.5
Maisenbacher, M.K.6
Yersak, J.M.7
Chakraborty, P.K.8
Hacker, A.M.9
Zackai, E.H.10
Ashley, T.11
Emanuel, B.S.12
-
19
-
-
58549105755
-
MAP'ing CNS development and cognition: An ERKsome process
-
Samuels IS, Saitta SC, Landreth GE. 2009. MAP'ing CNS development and cognition: An ERKsome process. Neuron 61: 160-167.
-
(2009)
Neuron
, vol.61
, pp. 160-167
-
-
Samuels, I.S.1
Saitta, S.C.2
Landreth, G.E.3
-
20
-
-
0033753819
-
The 22q11 deletion syndromes
-
Scambler PJ. 2000. The 22q11 deletion syndromes. Hum Mol Genet 9: 2421-2426.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2421-2426
-
-
Scambler, P.J.1
-
21
-
-
34147124382
-
Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms
-
Shaikh TH, O'Connor RJ, Pierpont ME, McGrath J, Hacker AM, Nimmakayalu M, Geiger E, Emanuael BS, Saitta S. 2007. Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms. Genome Res 17: 482-491.
-
(2007)
Genome Res
, vol.17
, pp. 482-491
-
-
Shaikh, T.H.1
O'Connor, R.J.2
Pierpont, M.E.3
McGrath, J.4
Hacker, A.M.5
Nimmakayalu, M.6
Geiger, E.7
Emanuael, B.S.8
Saitta, S.9
-
22
-
-
0034096320
-
Velo-cardio-facial syndrome: A distinctive behavioral phenotype
-
Shprintzen RJ. 2000. Velo-cardio-facial syndrome: A distinctive behavioral phenotype. Mental Retard Dev Disabil Res Rev 6: 142-147.
-
(2000)
Mental Retard Dev Disabil Res Rev
, vol.6
, pp. 142-147
-
-
Shprintzen, R.J.1
-
23
-
-
34447621083
-
Thoughts on the behavioural phenotypes in Prader-Willi syndrome and velo-cardio-facial syndrome: A novel approach
-
Verhoeven W, Egger J, Tuinier S. 2007. Thoughts on the behavioural phenotypes in Prader-Willi syndrome and velo-cardio-facial syndrome: A novel approach. Acta Neuropsychiatry 19: 244-250.
-
(2007)
Acta Neuropsychiatry
, vol.19
, pp. 244-250
-
-
Verhoeven, W.1
Egger, J.2
Tuinier, S.3
-
24
-
-
0036021297
-
The psychopathological phenotype of velo-cardio-facial syndrome
-
Vogels A, Verhoeven WMA, Tuinier S, DeVriendt K, Swillen A, Curfs LMG, Frijns JP. 2002. The psychopathological phenotype of velo-cardio-facial syndrome. Ann Genet 45: 89-95.
-
(2002)
Ann Genet
, vol.45
, pp. 89-95
-
-
Vogels, A.1
Verhoeven, W.M.A.2
Tuinier, S.3
DeVriendt, K.4
Swillen, A.5
Curfs, L.M.G.6
Frijns, J.P.7
-
25
-
-
33748426974
-
The 22q11.2 deletion in children: High rate of autistic disorders and early onset of psychotic symptoms
-
Vorstman JAS, Morcus MEJ, Duijff SN, Klaassen PWJ, Heineman-De Boer JA, Beemer FA, Swaab H, Kahn RS, Van Engeland H. 2006. The 22q11.2 deletion in children: High rate of autistic disorders and early onset of psychotic symptoms. J Am Acad Child Adolesc Psychiatry 45: 1104-1113.
-
(2006)
J Am Acad Child Adolesc Psychiatry
, vol.45
, pp. 1104-1113
-
-
Vorstman, J.A.S.1
Morcus, M.E.J.2
Duijff, S.N.3
Klaassen, P.W.J.4
Heineman-De Boer, J.A.5
Beemer, F.A.6
Swaab, H.7
Kahn, R.S.8
Van Engeland, H.9
-
26
-
-
33846401106
-
Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome
-
Weksberg R, Stachon AC, Squire JA, Moldovan L, Bayani J, Meyn S, Chow E, Basset AS. 2007. Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome. Hum Genet 120: 837-845.
-
(2007)
Hum Genet
, vol.120
, pp. 837-845
-
-
Weksberg, R.1
Stachon, A.C.2
Squire, J.A.3
Moldovan, L.4
Bayani, J.5
Meyn, S.6
Chow, E.7
Basset, A.S.8
|