-
1
-
-
59149099919
-
Increased LIS1 expression affects human and mouse brain development
-
Bi W., Sapir T., Shchelochkov O.A., Zhang F., Withers M.A., Hunter J.V., Levy T., Shinder V., Peiffer D.A., Gunderson K.L., Nezarati M.M., Shotts V.A., Amato S.S., Savage S.K., Harris D.J., Day-Salvatore D.L., Horner M., Lu X.Y., Sahoo T., Yanagawa Y., Beaudet A.L., Cheung S.W., Martinez S., Lupski J.R., Reiner O. Increased LIS1 expression affects human and mouse brain development. Nat. Genet. 2009, 41:168-177.
-
(2009)
Nat. Genet.
, vol.41
, pp. 168-177
-
-
Bi, W.1
Sapir, T.2
Shchelochkov, O.A.3
Zhang, F.4
Withers, M.A.5
Hunter, J.V.6
Levy, T.7
Shinder, V.8
Peiffer, D.A.9
Gunderson, K.L.10
Nezarati, M.M.11
Shotts, V.A.12
Amato, S.S.13
Savage, S.K.14
Harris, D.J.15
Day-Salvatore, D.L.16
Horner, M.17
Lu, X.Y.18
Sahoo, T.19
Yanagawa, Y.20
Beaudet, A.L.21
Cheung, S.W.22
Martinez, S.23
Lupski, J.R.24
Reiner, O.25
more..
-
2
-
-
0034642292
-
The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene
-
Cardoso C., Leventer R.J., Matsumoto N., Kuc J.A., Ramocki M.B., Mewborn S.K., Dudlicek L.L., May L.F., Mills P.L., Das S., Pilz D.T., Dobyns W.B., Ledbetter D.H. The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene. Hum. Mol. Genet. 2000, 9:3019-3028.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 3019-3028
-
-
Cardoso, C.1
Leventer, R.J.2
Matsumoto, N.3
Kuc, J.A.4
Ramocki, M.B.5
Mewborn, S.K.6
Dudlicek, L.L.7
May, L.F.8
Mills, P.L.9
Das, S.10
Pilz, D.T.11
Dobyns, W.B.12
Ledbetter, D.H.13
-
3
-
-
0037385481
-
Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly. Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3
-
Cardoso C., Leventer R.J., Ward H.L., Toyo-Oka K., Chung J., Gross A., Martin C.L., Allanson J., Pilz D.T., Olney A.H., Mutchinick O.M., Hirotsune S., Wynshaw-Boris A., Dobyns W.B., Ledbetter D.H. Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly. Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. Am. J. Hum. Genet. 2003, 72:918-930.
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 918-930
-
-
Cardoso, C.1
Leventer, R.J.2
Ward, H.L.3
Toyo-Oka, K.4
Chung, J.5
Gross, A.6
Martin, C.L.7
Allanson, J.8
Pilz, D.T.9
Olney, A.H.10
Mutchinick, O.M.11
Hirotsune, S.12
Wynshaw-Boris, A.13
Dobyns, W.B.14
Ledbetter, D.H.15
-
4
-
-
0025312631
-
Diagnostic features and clinical signs of 21 patients with lissencephaly type 1
-
de Rijk-van Andel J.F., Arts W.F., Barth P.G., Loonen M.C. Diagnostic features and clinical signs of 21 patients with lissencephaly type 1. Dev. Med. Child Neurol. 1990, 32:707-717.
-
(1990)
Dev. Med. Child Neurol.
, vol.32
, pp. 707-717
-
-
de Rijk-van Andel, J.F.1
Arts, W.F.2
Barth, P.G.3
Loonen, M.C.4
-
5
-
-
0025968152
-
Clinical and molecular diagnosis of Miller-Dieker syndrome
-
Dobyns W.B., Curry C.J., Hoyme H.E., Turlington L., Ledbetter D.H. Clinical and molecular diagnosis of Miller-Dieker syndrome. Am. J. Hum. Genet. 1991, 48:584-594.
-
(1991)
Am. J. Hum. Genet.
, vol.48
, pp. 584-594
-
-
Dobyns, W.B.1
Curry, C.J.2
Hoyme, H.E.3
Turlington, L.4
Ledbetter, D.H.5
-
6
-
-
0027486966
-
Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13
-
Dobyns W.B., Reiner O., Carrozzo R., Ledbetter D.H. Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. JAMA 1993, 270:2838-2842.
-
(1993)
JAMA
, vol.270
, pp. 2838-2842
-
-
Dobyns, W.B.1
Reiner, O.2
Carrozzo, R.3
Ledbetter, D.H.4
-
7
-
-
35348965707
-
From microscopes to microarrays: dissecting recurrent chromosomal rearrangements
-
Emanuel B.S., Saitta S.C. From microscopes to microarrays: dissecting recurrent chromosomal rearrangements. Nat. Rev. Genet. 2007, 8:869-883.
-
(2007)
Nat. Rev. Genet.
, vol.8
, pp. 869-883
-
-
Emanuel, B.S.1
Saitta, S.C.2
-
8
-
-
67649172875
-
Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia
-
Haverfield E.V., Whited A.J., Petras K.S., Dobyns W.B., Das S. Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia. Eur. J. Hum. Genet. 2009, 17:911-918.
-
(2009)
Eur. J. Hum. Genet.
, vol.17
, pp. 911-918
-
-
Haverfield, E.V.1
Whited, A.J.2
Petras, K.S.3
Dobyns, W.B.4
Das, S.5
-
9
-
-
34247169637
-
Partial deletion of LIS1: a pitfall in molecular diagnosis of Miller-Dieker syndrome
-
Izumi K., Kuratsuji G., Ikeda K., Takahashi T., Kosaki K. Partial deletion of LIS1: a pitfall in molecular diagnosis of Miller-Dieker syndrome. Pediatr. Neurol. 2007, 36:258-260.
-
(2007)
Pediatr. Neurol.
, vol.36
, pp. 258-260
-
-
Izumi, K.1
Kuratsuji, G.2
Ikeda, K.3
Takahashi, T.4
Kosaki, K.5
-
10
-
-
0037390829
-
Lissencephaly and the molecular basis of neuronal migration
-
12 Spec No. 1, R89-96
-
Kato M., Dobyns W.B. Lissencephaly and the molecular basis of neuronal migration. Hum. Mol. Genet. 2003, 12 Spec No. 1, R89-96.
-
(2003)
Hum. Mol. Genet.
-
-
Kato, M.1
Dobyns, W.B.2
-
11
-
-
33749043929
-
Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders
-
Lee J.A., Lupski J.R. Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders. Neuron 2006, 52:103-121.
-
(2006)
Neuron
, vol.52
, pp. 103-121
-
-
Lee, J.A.1
Lupski, J.R.2
-
12
-
-
45249108016
-
High frequency of genomic deletions-and a duplication-in the LIS1 gene in lissencephaly: implications for molecular diagnosis
-
Mei D., Lewis R., Parrini E., Lazarou L.P., Marini C., Pilz D.T., Guerrini R. High frequency of genomic deletions-and a duplication-in the LIS1 gene in lissencephaly: implications for molecular diagnosis. J. Med. Genet. 2008, 45:355-361.
-
(2008)
J. Med. Genet.
, vol.45
, pp. 355-361
-
-
Mei, D.1
Lewis, R.2
Parrini, E.3
Lazarou, L.P.4
Marini, C.5
Pilz, D.T.6
Guerrini, R.7
-
13
-
-
77349086419
-
Deletion of YWHAE in a patient with periventricular heterotopias and marked corpus callosum hypoplasia
-
Mignon-Ravix C., Cacciagli P., El-Waly B., Moncla A., Milh M., Girard N., Chabrol B., Philip N., Villard L. Deletion of YWHAE in a patient with periventricular heterotopias and marked corpus callosum hypoplasia. J. Med. Genet. 2009, 47:132-136.
-
(2009)
J. Med. Genet.
, vol.47
, pp. 132-136
-
-
Mignon-Ravix, C.1
Cacciagli, P.2
El-Waly, B.3
Moncla, A.4
Milh, M.5
Girard, N.6
Chabrol, B.7
Philip, N.8
Villard, L.9
-
14
-
-
0033001282
-
Miller-Dieker syndrome and trisomy 5p in a child carrying a derivative chromosome with a microdeletion in 17p13.3 telomeric to the LIS1 and the D17S379 loci
-
Mutchinick O.M., Shaffer L.G., Kashork C.D., Cervantes E.I. Miller-Dieker syndrome and trisomy 5p in a child carrying a derivative chromosome with a microdeletion in 17p13.3 telomeric to the LIS1 and the D17S379 loci. Am. J. Med. Genet. 1999, 85:99-104.
-
(1999)
Am. J. Med. Genet.
, vol.85
, pp. 99-104
-
-
Mutchinick, O.M.1
Shaffer, L.G.2
Kashork, C.D.3
Cervantes, E.I.4
-
15
-
-
0027176708
-
Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats
-
Reiner O., Carrozzo R., Shen Y., Wehnert M., Faustinella F., Dobyns W.B., Caskey C.T., Ledbetter D.H. Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature 1993, 364:717-721.
-
(1993)
Nature
, vol.364
, pp. 717-721
-
-
Reiner, O.1
Carrozzo, R.2
Shen, Y.3
Wehnert, M.4
Faustinella, F.5
Dobyns, W.B.6
Caskey, C.T.7
Ledbetter, D.H.8
-
16
-
-
70349687256
-
A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome
-
Roos L., Jonch A.E., Kjaergaard S., Taudorf K., Simonsen H., Hamborg-Petersen B., Brondum-Nielsen K., Kirchhoff M. A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome. J. Med. Genet. 2009, 46:703-710.
-
(2009)
J. Med. Genet.
, vol.46
, pp. 703-710
-
-
Roos, L.1
Jonch, A.E.2
Kjaergaard, S.3
Taudorf, K.4
Simonsen, H.5
Hamborg-Petersen, B.6
Brondum-Nielsen, K.7
Kirchhoff, M.8
-
17
-
-
34548691008
-
The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome
-
Shaffer L.G., Theisen A., Bejjani B.A., Ballif B.C., Aylsworth A.S., Lim C., McDonald M., Ellison J.W., Kostiner D., Saitta S., Shaikh T. The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome. Genet. Med. 2007, 9:607-616.
-
(2007)
Genet. Med.
, vol.9
, pp. 607-616
-
-
Shaffer, L.G.1
Theisen, A.2
Bejjani, B.A.3
Ballif, B.C.4
Aylsworth, A.S.5
Lim, C.6
McDonald, M.7
Ellison, J.W.8
Kostiner, D.9
Saitta, S.10
Shaikh, T.11
-
18
-
-
66349105614
-
A de novo intra-chromosomal tandem duplication at 22q13.1q13.31 including the Rubinstein-Taybi region but with no bipolar disorder
-
Shimojima K., Tanaka K., Yamamoto T. A de novo intra-chromosomal tandem duplication at 22q13.1q13.31 including the Rubinstein-Taybi region but with no bipolar disorder. Am. J. Med. Genet. A 2009, 149A:1359-1363.
-
(2009)
Am. J. Med. Genet. A
, vol.149 A
, pp. 1359-1363
-
-
Shimojima, K.1
Tanaka, K.2
Yamamoto, T.3
-
19
-
-
70350167612
-
Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment
-
Sreenath Nagamani S.C., Zhang F., Shchelochkov O.A., Bi W., Ou Z., Scaglia F., Probst F.J., Shinawi M., Eng C., Hunter J.V., Sparagana S., Lagoe E., Fong C.T., Pearson M., Doco-Fenzy M., Landais E., Mozelle M., Chinault A.C., Patel A., Bacino C.A., Sahoo T., Kang S.H., Cheung S.W., Lupski J.R., Stankiewicz P. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. J. Med. Genet. 2009, 46:825-833.
-
(2009)
J. Med. Genet.
, vol.46
, pp. 825-833
-
-
Sreenath Nagamani, S.C.1
Zhang, F.2
Shchelochkov, O.A.3
Bi, W.4
Ou, Z.5
Scaglia, F.6
Probst, F.J.7
Shinawi, M.8
Eng, C.9
Hunter, J.V.10
Sparagana, S.11
Lagoe, E.12
Fong, C.T.13
Pearson, M.14
Doco-Fenzy, M.15
Landais, E.16
Mozelle, M.17
Chinault, A.C.18
Patel, A.19
Bacino, C.A.20
Sahoo, T.21
Kang, S.H.22
Cheung, S.W.23
Lupski, J.R.24
Stankiewicz, P.25
more..
|