-
1
-
-
0032928069
-
The face of Smith-Magenis syndrome: A subjective and objective study
-
Allanson, J. E., F. Greenberg, and A. C. M. Smith. 1999. The face of Smith-Magenis syndrome: a subjective and objective study. J. Med. Genet. 36:394-397.
-
(1999)
J. Med. Genet.
, vol.36
, pp. 394-397
-
-
Allanson, J.E.1
Greenberg, F.2
Smith, A.C.M.3
-
2
-
-
0028694885
-
Mapping human YAC clones by fluorescence in situ hybridization using Alu-PCR from single yeast colonies
-
Baldini, A., and E. A. Lindsay. 1994. Mapping human YAC clones by fluorescence in situ hybridization using Alu-PCR from single yeast colonies. Methods Mol. Biol. 33:75-84.
-
(1994)
Methods Mol. Biol.
, vol.33
, pp. 75-84
-
-
Baldini, A.1
Lindsay, E.A.2
-
3
-
-
0036099554
-
Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse
-
Bi, W., J. Yan, P. Stankiewicz, S. S. Park, K. Walz, C. F. Boerkoel, L. Potocki, L. G. Shaffer, K. Devriendt, M. J. Nowaczyk, K. Inoue, and J. R. Lupski. 2002. Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. Genome Res. 12:713-728.
-
(2002)
Genome Res.
, vol.12
, pp. 713-728
-
-
Bi, W.1
Yan, J.2
Stankiewicz, P.3
Park, S.S.4
Walz, K.5
Boerkoel, C.F.6
Potocki, L.7
Shaffer, L.G.8
Devriendt, K.9
Nowaczyk, M.J.10
Inoue, K.11
Lupski, J.R.12
-
4
-
-
0036234549
-
Fliih, a gelsolin-related cytoskeletal regulator essential for early mammalian embryonic development
-
Campbell, H. D., S. Fountain, I. S. McLennan, L. A. Berven, M. F. Crouch, D. A. Davy, J. A. Hooper, K. Waterford, K.-S. Chen, J. R. Lupski, B. Ledermann, I. G. Young, and K. I. Matthaei. 2002. Fliih, a gelsolin-related cytoskeletal regulator essential for early mammalian embryonic development. Mol. Cell. Biol. 22:3518-3526.
-
(2002)
Mol. Cell. Biol.
, vol.22
, pp. 3518-3526
-
-
Campbell, H.D.1
Fountain, S.2
McLennan, I.S.3
Berven, L.A.4
Crouch, M.F.5
Davy, D.A.6
Hooper, J.A.7
Waterford, K.8
Chen, K.-S.9
Lupski, J.R.10
Ledermann, B.11
Young, I.G.12
Matthaei, K.I.13
-
5
-
-
0030881588
-
Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome
-
Chen, K.-S., P. Manian, T. Koeuth, L. Potocki, Q. Zhao, A. C. Chinault, C. C. Lee, and J. R. Lupski. 1997. Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nat. Genet. 17:154-163.
-
(1997)
Nat. Genet.
, vol.17
, pp. 154-163
-
-
Chen, K.-S.1
Manian, P.2
Koeuth, T.3
Potocki, L.4
Zhao, Q.5
Chinault, A.C.6
Lee, C.C.7
Lupski, J.R.8
-
6
-
-
0000477117
-
The Smith-Magenis Syndrome [del(17)(p11.2)]: Clinical review and molecular advances
-
Chen, K.-S., L. Potocki, and J. R. Lupski. 1996. The Smith-Magenis Syndrome [del(17)(p11.2)]: clinical review and molecular advances. Ment. Retard. Dev. Disabil. Res. Rev. 2:122-129.
-
(1996)
Ment. Retard. Dev. Disabil. Res. Rev.
, vol.2
, pp. 122-129
-
-
Chen, K.-S.1
Potocki, L.2
Lupski, J.R.3
-
7
-
-
0026347929
-
Molecular analysis of the Smith-Magenis syndrome: A possible contiguous-gene syndrome associated with del(17)(p11.2)
-
Greenberg, F., V. Guzzetta, R. Montes de Oca-Luna, R. E. Magenis, A. C. Smith, S. F. Richter, I. Kondo, W. B. Dobyns, P. I. Patel, and J. R. Lupski. 1991. Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). Am. J. Hum. Genet. 49:1207-1218.
-
(1991)
Am. J. Hum. Genet.
, vol.49
, pp. 1207-1218
-
-
Greenberg, F.1
Guzzetta, V.2
Montes de Oca-Luna, R.3
Magenis, R.E.4
Smith, A.C.5
Richter, S.F.6
Kondo, I.7
Dobyns, W.B.8
Patel, P.I.9
Lupski, J.R.10
-
8
-
-
0029920807
-
Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)
-
Greenberg, F., R. A. Lewis, L. Potocki, D. Glaze, J. Parke, J. Killian, M. A. Murphy, D. Williamson, F. Brown, R. Dutton, C. McCluggage, E. Friedman, M. Sulek, and J. R. Lupski. 1996. Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2). Am. J. Med. Genet. 62:247-254.
-
(1996)
Am. J. Med. Genet.
, vol.62
, pp. 247-254
-
-
Greenberg, F.1
Lewis, R.A.2
Potocki, L.3
Glaze, D.4
Parke, J.5
Killian, J.6
Murphy, M.A.7
Williamson, D.8
Brown, F.9
Dutton, R.10
McCluggage, C.11
Friedman, E.12
Sulek, M.13
Lupski, J.R.14
-
10
-
-
0035098557
-
DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1
-
Jerome, L. A., and V. E. Papaioannou. 2001. DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nat. Genet. 27:286-291.
-
(2001)
Nat. Genet.
, vol.27
, pp. 286-291
-
-
Jerome, L.A.1
Papaioannou, V.E.2
-
12
-
-
0032477804
-
Mammalian DNA topoisomerase IIIα is essential in early embryogenesis
-
Li, W., and J. C. Wang. 1998. Mammalian DNA topoisomerase IIIα is essential in early embryogenesis. Proc. Natl. Acad. Sci. USA 95:1010-1013.
-
(1998)
Proc. Natl. Acad. Sci. USA
, vol.95
, pp. 1010-1013
-
-
Li, W.1
Wang, J.C.2
-
13
-
-
0033598389
-
Congenital heart disease in mice deficient for the DiGeorge syndrome region
-
Lindsay, E. A., A. Botta, V. Jurecic, S. Carattini-Rivera, Y. C. Cheah, H. M. Rosenblatt, A. Bradley, and A. Baldini. 1999. Congenital heart disease in mice deficient for the DiGeorge syndrome region. Nature 401:379-383.
-
(1999)
Nature
, vol.401
, pp. 379-383
-
-
Lindsay, E.A.1
Botta, A.2
Jurecic, V.3
Carattini-Rivera, S.4
Cheah, Y.C.5
Rosenblatt, H.M.6
Bradley, A.7
Baldini, A.8
-
14
-
-
0035263599
-
Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice
-
Lindsay, E. A., F. Vitelli, H. Su, M. Morishima, T. Huynh, T. Pramparo, V. Jurecic, G. Ogunrinu, H. F. Sutherland, P. J. Scambler, A. Bradley, and A. Baldini. 2001. Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice. Nature 410:97-101.
-
(2001)
Nature
, vol.410
, pp. 97-101
-
-
Lindsay, E.A.1
Vitelli, F.2
Su, H.3
Morishima, M.4
Huynh, T.5
Pramparo, T.6
Jurecic, V.7
Ogunrinu, G.8
Sutherland, H.F.9
Scambler, P.J.10
Bradley, A.11
Baldini, A.12
-
15
-
-
0031770040
-
Embryonic lethality and tumorigenesis caused by segmental aneuploidy on mouse chromosome 11
-
Liu, P., H. Zhang, A. McLellan, H. Vogel, and A. Bradley. 1998. Embryonic lethality and tumorigenesis caused by segmental aneuploidy on mouse chromosome 11. Genetics 150:1155-1168.
-
(1998)
Genetics
, vol.150
, pp. 1155-1168
-
-
Liu, P.1
Zhang, H.2
McLellan, A.3
Vogel, H.4
Bradley, A.5
-
16
-
-
0031731487
-
Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits
-
Lupski, J. R. 1998. Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet. 14:417-422.
-
(1998)
Trends Genet.
, vol.14
, pp. 417-422
-
-
Lupski, J.R.1
-
17
-
-
0026621796
-
Alpha-inhibin is a tumour-suppressor gene with gonadal specificity in mice
-
Matzuk, M. M., M. J. Finegold, J.-G. J. Su, A. J. W. Hsueh, and A. Bradley. 1992. Alpha-inhibin is a tumour-suppressor gene with gonadal specificity in mice. Nature 360:313-319.
-
(1992)
Nature
, vol.360
, pp. 313-319
-
-
Matzuk, M.M.1
Finegold, M.J.2
Su, J.-G.J.3
Hsueh, A.J.W.4
Bradley, A.5
-
18
-
-
0019126423
-
Differential staining of cartilage and bone in whole mouse fetuses by alcian blue and alizarin red S
-
McLeod, M. J. 1980. Differential staining of cartilage and bone in whole mouse fetuses by alcian blue and alizarin red S. Teratology 22:299-301.
-
(1980)
Teratology
, vol.22
, pp. 299-301
-
-
McLeod, M.J.1
-
19
-
-
17744395906
-
TBXI is responsible for cardiovascular defects in velocardio-facial/DiGeorge syndrome
-
Merscher, S., B. Funke, J. A. Epstein, J. Heyer, A. Puech, M. M. Lu, R. J. Xavier, M. B. Demay, R. G. Russell, S. Factor, K. Tokooya, B. S. Jore, M. Lopez, R. K. Pandita, M. Lia, D. Carrion, H. Xu, H. Schorle, J. B. Kobler, P. Scambler, A. Wynshaw-Boris, A. I. Skoultchi, B. E. Morrow, and R. Kucherlapati. 2001. TBXI is responsible for cardiovascular defects in velocardio-facial/DiGeorge syndrome. Cell 104:619-629.
-
(2001)
Cell
, vol.104
, pp. 619-629
-
-
Merscher, S.1
Funke, B.2
Epstein, J.A.3
Heyer, J.4
Puech, A.5
Lu, M.M.6
Xavier, R.J.7
Demay, M.B.8
Russell, R.G.9
Factor, S.10
Tokooya, K.11
Jore, B.S.12
Lopez, M.13
Pandita, R.K.14
Lia, M.15
Carrion, D.16
Xu, H.17
Schorle, H.18
Kobler, J.B.19
Scambler, P.20
Wynshaw-Boris, A.21
Skoultchi, A.I.22
Morrow, B.E.23
Kucherlapati, R.24
more..
-
20
-
-
0035368225
-
From mouse to man: Generating megabase chromosome rearrangements
-
Mills, A. A., and A. Bradley. 2001. From mouse to man: generating megabase chromosome rearrangements. Trends Genet. 17:331-339.
-
(2001)
Trends Genet.
, vol.17
, pp. 331-339
-
-
Mills, A.A.1
Bradley, A.2
-
21
-
-
0018416478
-
Inherited epilepsy: Spike-wave and focal motor seizures in the mutant mouse tottering
-
Noebels, J. L., and R. L. Sidman. 1979. Inherited epilepsy: spike-wave and focal motor seizures in the mutant mouse tottering. Science 204:1334-1336.
-
(1979)
Science
, vol.204
, pp. 1334-1336
-
-
Noebels, J.L.1
Sidman, R.L.2
-
22
-
-
0036105179
-
Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs
-
Park, S.-S., P. Stankiewicz, W. Bi, C. Shaw, J. Lehoczky, K. Dewar, B. Birren, and J. R. Lupski. 2002. Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs. Genome Res. 12:729-738.
-
(2002)
Genome Res.
, vol.12
, pp. 729-738
-
-
Park, S.-S.1
Stankiewicz, P.2
Bi, W.3
Shaw, C.4
Lehoczky, J.5
Dewar, K.6
Birren, B.7
Lupski, J.R.8
-
23
-
-
0033987366
-
Molecular mechanism for duplication 17p11.2 - The homologous recombination reciprocal of the Smith-Magenis microdeletion
-
Potocki, L., K.-S. Chen, S. S. Park, D. E. Osterholm, M. A. Withers, V. Kimonis, A. M. Summers, W. S. Meschino, K. Anyane-Yeboa, C. D. Kashork, L. G. Shaffer, and J. R. Lupski. 2000. Molecular mechanism for duplication 17p11.2 - the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat. Genet. 24:84-87.
-
(2000)
Nat. Genet.
, vol.24
, pp. 84-87
-
-
Potocki, L.1
Chen, K.-S.2
Park, S.S.3
Osterholm, D.E.4
Withers, M.A.5
Kimonis, V.6
Summers, A.M.7
Meschino, W.S.8
Anyane-Yeboa, K.9
Kashork, C.D.10
Shaffer, L.G.11
Lupski, J.R.12
-
24
-
-
17644442703
-
Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene
-
Probst, F. J., R. A. Fridell, Y. Raphael, T. L. Saunders, A. Wang, Y. Liang, R. J. Morell, J. W. Touchman, R. H. Lyons, K. Noben-Trauth, T. B. Friedman, and S. A. Camper. 1998. Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene. Science 280:1444-1447.
-
(1998)
Science
, vol.280
, pp. 1444-1447
-
-
Probst, F.J.1
Fridell, R.A.2
Raphael, Y.3
Saunders, T.L.4
Wang, A.5
Liang, Y.6
Morell, R.J.7
Touchman, J.W.8
Lyons, R.H.9
Noben-Trauth, K.10
Friedman, T.B.11
Camper, S.A.12
-
26
-
-
0029562967
-
Chromosome engineering in mice
-
Ramirez-Solis, R., P. Liu, and A. Bradley. 1995. Chromosome engineering in mice. Nature 378:720-724.
-
(1995)
Nature
, vol.378
, pp. 720-724
-
-
Ramirez-Solis, R.1
Liu, P.2
Bradley, A.3
-
27
-
-
0033980511
-
Parallels of craniofacial maldevelopment in Down syndrome and Ts65Dn mice
-
Richtsmeier, J. T., L. L. Baxter, and R. H. Reeves. 2002. Parallels of craniofacial maldevelopment in Down syndrome and Ts65Dn mice. Dev. Dyn. 217:137-145.
-
(2002)
Dev. Dyn.
, vol.217
, pp. 137-145
-
-
Richtsmeier, J.T.1
Baxter, L.L.2
Reeves, R.H.3
-
28
-
-
0002817593
-
-
The McGraw-Hill Companies, Inc., New York, N.Y.
-
Shaffer, L. G., D. H. Ledbetter, and J. R. Lupski. 2001. The metabolic and molecular bases of inherited disease, 8th ed., vol. I, p. 1291-1327. The McGraw-Hill Companies, Inc., New York, N.Y.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease, 8th Ed.
, vol.1
, pp. 1291-1327
-
-
Shaffer, L.G.1
Ledbetter, D.H.2
Lupski, J.R.3
-
29
-
-
0030829812
-
Elevated levels of SREBP-2 and cholesterol synthesis in livers of mice homozygous for a targeted disruption of the SREBP-1 gene
-
Shimano, H., I. Shimomura, R. E. Hammer, J. Herz, J. L. Goldstein, M. S. Brown, and J. D. Horton. 1997. Elevated levels of SREBP-2 and cholesterol synthesis in livers of mice homozygous for a targeted disruption of the SREBP-1 gene. J. Clin. Investig. 100:2115-2124.
-
(1997)
J. Clin. Investig.
, vol.100
, pp. 2115-2124
-
-
Shimano, H.1
Shimomura, I.2
Hammer, R.E.3
Herz, J.4
Goldstein, J.L.5
Brown, M.S.6
Horton, J.D.7
-
30
-
-
0038464367
-
Hypercholesterolemia in children with Smith-Magenis syndrome: Del (17) (p11.2p11.2)
-
Smith, A. C. M., A. L. Gropman, J. E. Bailey-Wilson, O. Goker-Alpan, S. H. Elsea, J. Blancato, J. R. Lupski, and L. Potocki. 2002. Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2). Genet. Med. 4:118-125.
-
(2002)
Genet. Med.
, vol.4
, pp. 118-125
-
-
Smith, A.C.M.1
Gropman, A.L.2
Bailey-Wilson, J.E.3
Goker-Alpan, O.4
Elsea, S.H.5
Blancato, J.6
Lupski, J.R.7
Potocki, L.8
-
31
-
-
0022543280
-
Interstitial deletion of (17)(p11.2p11.2) in nine patients
-
Smith, A. C. M., L. McGavran, J. Robinson, G. Waldstein, J. Macfarlane, J. Zonona, J. Reiss, M. Lahr, L. Allen, and E. Magenis. 1986. Interstitial deletion of (17)(p11.2p11.2) in nine patients. Am. J. Med. Genet. 24:393-414.
-
(1986)
Am. J. Med. Genet.
, vol.24
, pp. 393-414
-
-
Smith, A.C.M.1
McGavran, L.2
Robinson, J.3
Waldstein, G.4
Macfarlane, J.5
Zonona, J.6
Reiss, J.7
Lahr, M.8
Allen, L.9
Magenis, E.10
-
32
-
-
0036468807
-
Genome architecture, rearrangements and genomic disorders
-
Stankiewicz, P., and J. R. Lupski. 2002. Genome architecture, rearrangements and genomic disorders. Trends Genet. 18:74-82.
-
(2002)
Trends Genet.
, vol.18
, pp. 74-82
-
-
Stankiewicz, P.1
Lupski, J.R.2
-
33
-
-
0036591666
-
Molecular-evolutionary mechanisms for genomic disorders
-
Stankiewicz, P., and J. R. Lupski. 2002. Molecular-evolutionary mechanisms for genomic disorders. Curr. Opin. Genet. Dev. 1:312-319.
-
(2002)
Curr. Opin. Genet. Dev.
, vol.1
, pp. 312-319
-
-
Stankiewicz, P.1
Lupski, J.R.2
-
34
-
-
0027933564
-
Molecular cloning and functional expression of cDNA encoding a second class of inward rectifier potassium channels in the mouse brain
-
Takahashi, N., K. I. Morishige, A. Jahangir, M. Yamada, I. Findlay, H. Koyama, and Y. Kurachi. 1994. Molecular cloning and functional expression of cDNA encoding a second class of inward rectifier potassium channels in the mouse brain. J. Biol. Chem. 269:23274-23279.
-
(1994)
J. Biol. Chem.
, vol.269
, pp. 23274-23279
-
-
Takahashi, N.1
Morishige, K.I.2
Jahangir, A.3
Yamada, M.4
Findlay, I.5
Koyama, H.6
Kurachi, Y.7
-
35
-
-
0030680256
-
Disruption of the murine gene encoding phosphatidylethanolamine N-methyltransferase
-
Walkey, C. J., L. R. Donohue, R. Bronson, L. B. Agellon, and D. E. Vance. 1997. Disruption of the murine gene encoding phosphatidylethanolamine N-methyltransferase. Proc. Natl. Acad. Sci. USA 94:12880-12885.
-
(1997)
Proc. Natl. Acad. Sci. USA
, vol.94
, pp. 12880-12885
-
-
Walkey, C.J.1
Donohue, L.R.2
Bronson, R.3
Agellon, L.B.4
Vance, D.E.5
-
36
-
-
0034919939
-
Activation and accumulation of B cells in TACI-deficient mice
-
Yan, M., H. Wang, B. Chan, M. Roose-Girma, S. Erickson, T. Baker, D. Tumas, I. S. Grewal, and V. M. Dixit. 2001. Activation and accumulation of B cells in TACI-deficient mice. Nat. Immunol. 2:638-643.
-
(2001)
Nat. Immunol.
, vol.2
, pp. 638-643
-
-
Yan, M.1
Wang, H.2
Chan, B.3
Roose-Girma, M.4
Erickson, S.5
Baker, T.6
Tumas, D.7
Grewal, I.S.8
Dixit, V.M.9
-
37
-
-
0035490099
-
Engineering chromosomal rearrangements in mice
-
Yu, Y., and A. Bradley. 2001. Engineering chromosomal rearrangements in mice. Nat. Rev. Genet. 10:780-790.
-
(2001)
Nat. Rev. Genet.
, vol.10
, pp. 780-790
-
-
Yu, Y.1
Bradley, A.2
-
38
-
-
0031808198
-
Cloning, genomic structure and expression of mouse ringer finger protein gene Znf179
-
Zhao, Q., K.-S. Chen, B. A. Bejjani, and J. R. Lupski. 1998. Cloning, genomic structure and expression of mouse ringer finger protein gene Znf179. Genomics 49:394-400.
-
(1998)
Genomics
, vol.49
, pp. 394-400
-
-
Zhao, Q.1
Chen, K.-S.2
Bejjani, B.A.3
Lupski, J.R.4
-
39
-
-
0033152654
-
A system for rapid generation of coat color-tagged knockouts and defined chromosomal rearrangements in mice
-
Zheng, B., A. A. Mills, and A. Bradley. 1999. A system for rapid generation of coat color-tagged knockouts and defined chromosomal rearrangements in mice. Nucleic Acids Res. 27:2354-2360.
-
(1999)
Nucleic Acids Res.
, vol.27
, pp. 2354-2360
-
-
Zheng, B.1
Mills, A.A.2
Bradley, A.3
|