-
1
-
-
3042843645
-
Cytogenetic and molecular cytogenetic findings in 43 aneurysmal bone cysts: Aberrations of 17p mapped to 17p13.2 by fluorescence in situ hybridization
-
Althof PA, Ohmori K, Zhou M, Bailey JM, Bridge RS, Nelson M, Neff JR, Bridge JA (2004) Cytogenetic and molecular cytogenetic findings in 43 aneurysmal bone cysts: Aberrations of 17p mapped to 17p13.2 by fluorescence in situ hybridization. Mod Pathol 17:518-525
-
(2004)
Mod Pathol
, vol.17
, pp. 518-525
-
-
Althof, P.A.1
Ohmori, K.2
Zhou, M.3
Bailey, J.M.4
Bridge, R.S.5
Nelson, M.6
Neff, J.R.7
Bridge, J.A.8
-
2
-
-
0344507144
-
A dup(17)(p11.2p11.2) detected by fluorescence in situ hybridization in a boy with Alport syndrome
-
Balarin MAS, da Silva Lopes VLG, Varella-Garcia M (1999) A dup(17)(p11.2p11.2) detected by fluorescence in situ hybridization in a boy with Alport syndrome. Am J Med Genet 82:183-186
-
(1999)
Am J Med Genet
, vol.82
, pp. 183-186
-
-
Balarin, M.A.S.1
da Silva Lopes, V.L.G.2
Varella-Garcia, M.3
-
3
-
-
9144264835
-
The breakpoint region of the most common isochromosome, i(17q), in human neoplasia is characterized by a 220 kb region containing palindromic low-copy repeats
-
Barbouti A, Stankiewicz P, Nusbaum C, Cuomo C, Cook A, Birren B, Höglund M, Johansson B, Hagemeijer A, Park S-S, Mitelman F, Lupski JR, Fioretos T (2004) The breakpoint region of the most common isochromosome, i(17q), in human neoplasia is characterized by a 220 kb region containing palindromic low-copy repeats. Am J Hum Genet 74:1-10
-
(2004)
Am J Hum Genet
, vol.74
, pp. 1-10
-
-
Barbouti, A.1
Stankiewicz, P.2
Nusbaum, C.3
Cuomo, C.4
Cook, A.5
Birren, B.6
Höglund, M.7
Johansson, B.8
Hagemeijer, A.9
Park, S.-S.10
Mitelman, F.11
Lupski, J.R.12
Fioretos, T.13
-
4
-
-
0036099554
-
Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse
-
Bi W, Yan J, Stankiewicz P, Park S-S, Walz K, Boerkoel CF, Potocki L, Shaffer LG, Devriendt K, Nowaczyk MJM, Inoue K, Lupski JR (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.M.10
Inoue, K.11
Lupski, J.R.12
-
5
-
-
0348230989
-
Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2
-
Bi W, Park SS, Shaw CJ, Withers MA, Patel PI, Lupski JR (2003) Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2. Am J Hum Genet 73:1302-1315
-
(2003)
Am J Hum Genet
, vol.73
, pp. 1302-1315
-
-
Bi, W.1
Park, S.S.2
Shaw, C.J.3
Withers, M.A.4
Patel, P.I.5
Lupski, J.R.6
-
6
-
-
0029927224
-
Two patients with duplication of 17p11.2: The reciprocal of the Smith-Magenis syndrome deletion?
-
Erratum in Am J Med Genet 65:254
-
Brown A, Phelan MC, Patil S, Crawford E, Rogers RC, Schwartz C (1996) Two patients with duplication of 17p11.2: The reciprocal of the Smith-Magenis syndrome deletion? Am J Med Genet 63:373-377. Erratum in Am J Med Genet 65:254
-
(1996)
Am J Med Genet
, vol.63
, pp. 373-377
-
-
Brown, A.1
Phelan, M.C.2
Patil, S.3
Crawford, E.4
Rogers, R.C.5
Schwartz, C.6
-
7
-
-
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 RJ, Ward HL, Toyo-Oka K, Chung J, Gross A, Martin CL, Allanson J, Pilz DT, Olney AH, Mutchinick OM, Hirotsune S, Wynshaw-Boris A, Dobyns WB, Ledbetter DH (2003) 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 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
-
8
-
-
0026734046
-
Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: Evidence for gene dosage as a mechanism in CMT1A
-
Chance PF, Bird TD, Matsunami N, Lensch MW, Brothman AR, Feldman GM (1992) Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: Evidence for gene dosage as a mechanism in CMT1A. Neurology 42:2295-2299
-
(1992)
Neurology
, vol.42
, pp. 2295-2299
-
-
Chance, P.F.1
Bird, T.D.2
Matsunami, N.3
Lensch, M.W.4
Brothman, A.R.5
Feldman, G.M.6
-
9
-
-
0027972378
-
Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17
-
Chance PF, Abbas N, Lensch MW, Pentao L, Roa BB, Patel PI, Lupski JR (1994) Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum Mol Genet 3:223-228
-
(1994)
Hum Mol Genet
, vol.3
, pp. 223-228
-
-
Chance, P.F.1
Abbas, N.2
Lensch, M.W.3
Pentao, L.4
Roa, B.B.5
Patel, P.I.6
Lupski, J.R.7
-
10
-
-
0030881588
-
Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome
-
Chen K-S, Manian P, Koeuth T, Potocki L, Zhao Q, Chinault AC, Lee CC, Lupski JR (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
-
11
-
-
23744491866
-
Development and validation of a CGH microarray for clinical cytogenetic diagnosis
-
Cheung SW, Shaw CA, Yu W, Li J, Ou Z, Patel A, Yatsenko SA, Cooper ML, Furman P, Stankiewicz P, Lupski JR, Chinault AC, Beaudet AL (2005) Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet Med 7:422-432
-
(2005)
Genet Med
, vol.7
, pp. 422-432
-
-
Cheung, S.W.1
Shaw, C.A.2
Yu, W.3
Li, J.4
Ou, Z.5
Patel, A.6
Yatsenko, S.A.7
Cooper, M.L.8
Furman, P.9
Stankiewicz, P.10
Lupski, J.R.11
Chinault, A.C.12
Beaudet, A.L.13
-
12
-
-
0031046839
-
A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3
-
Chong SS, Pack SD, Roschke AV, Tanigami A, Carrozzo R, Smith ACM, Dobyns WB, Ledbetter DH (1997) A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. Hum Mol Genet 6:147-155
-
(1997)
Hum Mol Genet
, vol.6
, pp. 147-155
-
-
Chong, S.S.1
Pack, S.D.2
Roschke, A.V.3
Tanigami, A.4
Carrozzo, R.5
Smith, A.C.M.6
Dobyns, W.B.7
Ledbetter, D.H.8
-
13
-
-
0033816931
-
Precarious acrocentric short arm in prenatal diagnosis: No chromosome 14 polymorphism, but trisomy 17p
-
De Pater JM, Van Tintelen JP, Stigter R, Brouwers HAA, Scheres JMJC (2000) Precarious acrocentric short arm in prenatal diagnosis: No chromosome 14 polymorphism, but trisomy 17p. Genet Couns 11:241-247
-
(2000)
Genet Couns
, vol.11
, pp. 241-247
-
-
De Pater, J.M.1
Van Tintelen, J.P.2
Stigter, R.3
Brouwers, H.A.A.4
Scheres, J.M.J.C.5
-
14
-
-
0026780723
-
Causal heterogeneity in isolated lissencephaly
-
Dobyns WB, Elias ER, Newlin AC, Pagon RA, Ledbetter DH (1992) Causal heterogeneity in isolated lissencephaly. Neurology 42:1375-1388
-
(1992)
Neurology
, vol.42
, pp. 1375-1388
-
-
Dobyns, W.B.1
Elias, E.R.2
Newlin, A.C.3
Pagon, R.A.4
Ledbetter, D.H.5
-
15
-
-
0842305709
-
Unbalanced cryptic 5p deletion/17p duplication identified by subtelomeric FISH in a family with a boy with chimerism and a balanced t(4;5)
-
Ensenauer R, Jalal S, Meyer R, Babovic-Vuksanovic D (2004) Unbalanced cryptic 5p deletion/17p duplication identified by subtelomeric FISH in a family with a boy with chimerism and a balanced t(4;5). Am J Med Genet 125A:86-91
-
(2004)
Am J Med Genet
, vol.125 A
, pp. 86-91
-
-
Ensenauer, R.1
Jalal, S.2
Meyer, R.3
Babovic-Vuksanovic, D.4
-
16
-
-
20044377204
-
The influence of CCL3L1 gene-containing segmental duplications on HIV-1/ AIDS susceptibility
-
Gonzalez E, Kulkarni H, Bolivar H, Mangano A, Sanchez R, Catano G, Nibbs RJ, Freedman BI, Quinones MP, Bamshad MJ, Murthy KK, Rovin BH, Bradley W, Clark RA, Anderson SA, O'Connell RJ, Agan BK, Ahuja SS, Bologna R, Sen L, Dolan MJ, Ahuja SK (2005) The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science 307:1434-1440
-
(2005)
Science
, vol.307
, pp. 1434-1440
-
-
Gonzalez, E.1
Kulkarni, H.2
Bolivar, H.3
Mangano, A.4
Sanchez, R.5
Catano, G.6
Nibbs, R.J.7
Freedman, B.I.8
Quinones, M.P.9
Bamshad, M.J.10
Murthy, K.K.11
Rovin, B.H.12
Bradley, W.13
Clark, R.A.14
Anderson, S.A.15
O'Connell, R.J.16
Agan, B.K.17
Ahuja, S.S.18
Bologna, R.19
Sen, L.20
Dolan, M.J.21
Ahuja, S.K.22
more..
-
17
-
-
23344450320
-
Cryptic unbalanced translocation t(17;18)(p13.2;q22.3) identified by subtelomeric FISH and defined by array-based comparative genomic hybridization in a patient with mental retardation and dysmorphic features
-
Hwang KS, Pearson MA, Stankiewicz P, Lennon PA, Cooper ML, Wu J, Ou Z, Cai W-W, Patel A, Cheung SW (2005) Cryptic unbalanced translocation t(17;18)(p13.2;q22.3) identified by subtelomeric FISH and defined by array-based comparative genomic hybridization in a patient with mental retardation and dysmorphic features. Am J Med Genet 137A:88-93
-
(2005)
Am J Med Genet
, vol.137 A
, pp. 88-93
-
-
Hwang, K.S.1
Pearson, M.A.2
Stankiewicz, P.3
Lennon, P.A.4
Cooper, M.L.5
Wu, J.6
Ou, Z.7
Cai, W.-W.8
Patel, A.9
Cheung, S.W.10
-
18
-
-
0034830932
-
The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes
-
Inoue K, Dewar K, Katsanis N, Reiter LT, Lander ES, Devon KL, Wyman DW, Lupski JR, Birren B (2001) The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes. Genome Res 11:1018-1033
-
(2001)
Genome Res
, vol.11
, pp. 1018-1033
-
-
Inoue, K.1
Dewar, K.2
Katsanis, N.3
Reiter, L.T.4
Lander, E.S.5
Devon, K.L.6
Wyman, D.W.7
Lupski, J.R.8
Birren, B.9
-
19
-
-
0019980795
-
Trisomy 17p due to a t(5;17)(p15;p11)pat translocation
-
Jinno Y, Matsuda I, Kajii T (1982) Trisomy 17p due to a t(5;17)(p15;p11)pat translocation. Ann Genet 25:123-125
-
(1982)
Ann Genet
, vol.25
, pp. 123-125
-
-
Jinno, Y.1
Matsuda, I.2
Kajii, T.3
-
20
-
-
0031795340
-
Charcot-Marie-Tooth phenotype produced by a duplicated PMP22 gene as part of a 17p trisomy-translocation to the X chromosome
-
King PH, Waldrop R, Lupski JR, Shaffer LG (1998) Charcot-Marie-Tooth phenotype produced by a duplicated PMP22 gene as part of a 17p trisomy-translocation to the X chromosome. Clin Genet 54:413-416
-
(1998)
Clin Genet
, vol.54
, pp. 413-416
-
-
King, P.H.1
Waldrop, R.2
Lupski, J.R.3
Shaffer, L.G.4
-
21
-
-
0031770347
-
Prenatal diagnosis of a trisomy 17p derived from a de novo non-mosaic satellited marker
-
Kulharya AS, Garcia-Heras J, Radtke HB, Norris KS, Keppen LD, Flannery DB (1998) Prenatal diagnosis of a trisomy 17p derived from a de novo non-mosaic satellited marker. Clin Genet 54:421-425
-
(1998)
Clin Genet
, vol.54
, pp. 421-425
-
-
Kulharya, A.S.1
Garcia-Heras, J.2
Radtke, H.B.3
Norris, K.S.4
Keppen, L.D.5
Flannery, D.B.6
-
22
-
-
0031040866
-
Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome
-
Lo Nigro C, Chong SS, Smith ACM, Dobyns WB, Carrozzo R, Ledbetter DH (1997) Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. Hum Mol Genet 6:157-164
-
(1997)
Hum Mol Genet
, vol.6
, pp. 157-164
-
-
Lo Nigro, C.1
Chong, S.S.2
Smith, A.C.M.3
Dobyns, W.B.4
Carrozzo, R.5
Ledbetter, D.H.6
-
23
-
-
0026928761
-
Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A
-
Lupski JR, Garcia CA (1992) Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A. Brain Pathol 2:337-349
-
(1992)
Brain Pathol
, vol.2
, pp. 337-349
-
-
Lupski, J.R.1
Garcia, C.A.2
-
24
-
-
0000907007
-
Charcot-Marie-Tooth peripheral neuropaties and related disorders
-
In: Scriver CR, Beaudet AL, Valle D, Sly WS, Childs B, Kinzler KW, Vogelstein B (eds) McGraw-Hill, New York
-
Lupski JR, Garcia CA (2001) Charcot-Marie-Tooth peripheral neuropaties and related disorders. In: Scriver CR, Beaudet AL, Valle D, Sly WS, Childs B, Kinzler KW, Vogelstein B (eds) The metabolic & molecular bases of inherited diseases, vol IV. McGraw-Hill, New York, pp 5759-5788
-
(2001)
The Metabolic & Molecular Bases of Inherited Diseases
, vol.4
, pp. 5759-5788
-
-
Lupski, J.R.1
Garcia, C.A.2
-
25
-
-
34547664096
-
Genomic disorders: Molecular mechanisms for rearrangements and conveyed phenotypes
-
Lupski JR, Stankiewicz P (2005) Genomic disorders: Molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet 1:e49
-
(2005)
PLoS Genet
, vol.1
-
-
Lupski, J.R.1
Stankiewicz, P.2
-
27
-
-
0028815370
-
Trisomy 17p11-pter: Unbalanced pericentric inversion, inv(17)(p11q25) in two patients, unbalanced translocations t(4;17)(q27;p11) in a newborn and t(4;17)(p16;p11.2) in a fetus
-
Lurie IW, Gurevich DB, Binkert F, Schinzel A (1995) Trisomy 17p11-pter: unbalanced pericentric inversion, inv(17)(p11q25) in two patients, unbalanced translocations t(4;17)(q27;p11) in a newborn and t(4;17)(p16;p11.2) in a fetus. Clin Dysmorphol 4:25-32
-
(1995)
Clin Dysmorphol
, vol.4
, pp. 25-32
-
-
Lurie, I.W.1
Gurevich, D.B.2
Binkert, F.3
Schinzel, A.4
-
28
-
-
0022449202
-
De novo partial duplication of 17p [dup(17)(p12→p11.2)]: Clinical report
-
Magenis RE, Brown MG, Allen L, Reiss J (1986) De novo partial duplication of 17p [dup(17)(p127rarr;p11.2)]: Clinical report. Am J Med Genet 24:415-420
-
(1986)
Am J Med Genet
, vol.24
, pp. 415-420
-
-
Magenis, R.E.1
Brown, M.G.2
Allen, L.3
Reiss, J.4
-
29
-
-
0023676691
-
Complete trisomy 17p a relatively new syndrome
-
Martsolf JT, Larson L, Jalal SM, Wadahl WA, Miller R, Kukolich M (1988) Complete trisomy 17p a relatively new syndrome. Ann Genet 31:172-174
-
(1988)
Ann Genet
, vol.31
, pp. 172-174
-
-
Martsolf, J.T.1
Larson, L.2
Jalal, S.M.3
Wadahl, W.A.4
Miller, R.5
Kukolich, M.6
-
31
-
-
0032982321
-
Partial trisomy 17p detected by spectral karyotyping
-
Morelli SH, Deubler DA, Brothman LJ, Carey JC, Brothman AR (1999) Partial trisomy 17p detected by spectral karyotyping. Clin Genet 55:372-375
-
(1999)
Clin Genet
, vol.55
, pp. 372-375
-
-
Morelli, S.H.1
Deubler, D.A.2
Brothman, L.J.3
Carey, J.C.4
Brothman, A.R.5
-
32
-
-
1542615085
-
USP6 (Tre2) fusion oncogenes in aneurysmal bone cyst
-
Oliveira AM, Hsi B-L, Weremowicz S, Rosenberg AE, Dal Cin P, Joseph N, Bridge JA, Perez-Atayde AR, Fletcher JA (2004a) USP6 (Tre2) fusion oncogenes in aneurysmal bone cyst. Cancer Res 64:1920-1923
-
(2004)
Cancer Res
, vol.64
, pp. 1920-1923
-
-
Oliveira, A.M.1
Hsi, B.-L.2
Weremowicz, S.3
Rosenberg, A.E.4
Dal Cin, P.5
Joseph, N.6
Bridge, J.A.7
Perez-Atayde, A.R.8
Fletcher, J.A.9
-
33
-
-
7244239103
-
USP6 and CDH11 oncogenes identify the neoplastic cell in primary aneurysmal bone cysts and are absent in so-called secondary aneurysmal bone cysts
-
Oliveira AM, Perez-Atayde AR, Inwards CY, Medeiros F, Derr V, Hsi B-L, Gebhardt MC, Rosenberg AE, Fletcher JA (2004b) USP6 and CDH11 oncogenes identify the neoplastic cell in primary aneurysmal bone cysts and are absent in so-called secondary aneurysmal bone cysts. Am J Pathol 165:1773-1780
-
(2004)
Am J Pathol
, vol.165
, pp. 1773-1780
-
-
Oliveira, A.M.1
Perez-Atayde, A.R.2
Inwards, C.Y.3
Medeiros, F.4
Derr, V.5
Hsi, B.-L.6
Gebhardt, M.C.7
Rosenberg, A.E.8
Fletcher, J.A.9
-
34
-
-
19944423795
-
Aneurysmal bone cyst variant translocations upregulate USP6 transcription by promoter swapping with the ZNF9, COL1A1, TRAP150, and OMD genes
-
Oliveira AM, Perez-Atayde AR, Dal Cin P, Gebhardt MC, Chen C-J, Neff JR, Demetri GD, Rosenberg AE, Bridge JA, Fletcher JA (2005) Aneurysmal bone cyst variant translocations upregulate USP6 transcription by promoter swapping with the ZNF9, COL1A1, TRAP150, and OMD genes. Oncogene 24:3419-3426
-
(2005)
Oncogene
, vol.24
, pp. 3419-3426
-
-
Oliveira, A.M.1
Perez-Atayde, A.R.2
Dal Cin, P.3
Gebhardt, M.C.4
Chen, C.-J.5
Neff, J.R.6
Demetri, G.D.7
Rosenberg, A.E.8
Bridge, J.A.9
Fletcher, J.A.10
-
35
-
-
0036105179
-
Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs
-
Park S-S, Stankiewicz P, Bi W, Shaw C, Lehoczky J, Dewar K, Birren B, Lupski JR (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
-
37
-
-
0027017033
-
Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit
-
Pentao L, Wise CA, Chinault AC, Patel PI, Lupski JR (1992) Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nat Genet 2:292-300
-
(1992)
Nat Genet
, vol.2
, pp. 292-300
-
-
Pentao, L.1
Wise, C.A.2
Chinault, A.C.3
Patel, P.I.4
Lupski, J.R.5
-
38
-
-
0033987366
-
Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion
-
Potocki L, Chen K-S, Park S-S, Osterholm DE, Withers MA, Kimonis V, Summers AM, Meschino WS, Anyane-Yeboa K, Kashork CD, Shaffer LG, Lupski JR (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
-
39
-
-
0027176708
-
Isolation of a Miller-Dieker lissencephaly gene containing G protein β-subunit-like repeats
-
Reiner O, Carrozzo R, Shen Y, Wehnert M, Faustinella F, Dobyns WB, Caskey CT, Ledbetter DH (1993) Isolation of a Miller-Dieker lissencephaly gene containing G protein β-subunit-like repeats. Nature 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
-
40
-
-
0029013985
-
Lissencephaly gene (LIS1) expression in the CNS suggests a role in neuronal migration
-
Reiner O, Albrecht U, Gordon M, Chianese KA, Wong C, Gal-Gerber O, Sapir T, Siracusa LD, Buchberg AM, Caskey CT, Eichele G (1995) Lissencephaly gene (LIS1) expression in the CNS suggests a role in neuronal migration. J Neurosci 15:3730-3738
-
(1995)
J Neurosci
, vol.15
, pp. 3730-3738
-
-
Reiner, O.1
Albrecht, U.2
Gordon, M.3
Chianese, K.A.4
Wong, C.5
Gal-Gerber, O.6
Sapir, T.7
Siracusa, L.D.8
Buchberg, A.M.9
Caskey, C.T.10
Eichele, G.11
-
41
-
-
0029962292
-
A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element
-
Reiter LT, Murakami T, Koeuth T, Pentao L, Muzny DM, Gibbs RA, Lupski JR (1996) A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nat Genet 12:288-297
-
(1996)
Nat Genet
, vol.12
, pp. 288-297
-
-
Reiter, L.T.1
Murakami, T.2
Koeuth, T.3
Pentao, L.4
Muzny, D.M.5
Gibbs, R.A.6
Lupski, J.R.7
-
42
-
-
0030871024
-
The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs
-
Reiter LT, Murakami T, Koeuth T, Gibbs RA, Lupski JR (1997) The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs. Hum Mol Genet 6:1595-1603
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1595-1603
-
-
Reiter, L.T.1
Murakami, T.2
Koeuth, T.3
Gibbs, R.A.4
Lupski, J.R.5
-
43
-
-
13344249760
-
Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy
-
Roa BB, Greenberg F, Gunaratne P, Sauer CM, Lubinsky MS, Kozma C, Meck JM, Magenis RE, Shaffer LG, Lupski JR (1996) Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy. Hum Genet 97:642-649
-
(1996)
Hum Genet
, vol.97
, pp. 642-649
-
-
Roa, B.B.1
Greenberg, F.2
Gunaratne, P.3
Sauer, C.M.4
Lubinsky, M.S.5
Kozma, C.6
Meck, J.M.7
Magenis, R.E.8
Shaffer, L.G.9
Lupski, J.R.10
-
45
-
-
0025073151
-
Trisomy 17p due to a t(8;17)(p23;p11.2)pat translocation. Case report and review of the literature
-
Schrander-Stumpel C, Schrander J, Fryns JP, Hamers G (1990) Trisomy 17p due to a t(8;17)(p23;p11.2)pat translocation. Case report and review of the literature. Clin Genet 37:148-152
-
(1990)
Clin Genet
, vol.37
, pp. 148-152
-
-
Schrander-Stumpel, C.1
Schrander, J.2
Fryns, J.P.3
Hamers, G.4
-
46
-
-
0031004203
-
Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: Implications for testing in the cytogenetics laboratory
-
Shaffer LG, Kennedy GM, Spikes AS, Lupski JR (1997) Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: Implications for testing in the cytogenetics laboratory. Am J Med Genet 69:325-331
-
(1997)
Am J Med Genet
, vol.69
, pp. 325-331
-
-
Shaffer, L.G.1
Kennedy, G.M.2
Spikes, A.S.3
Lupski, J.R.4
-
47
-
-
3042641616
-
Uncommon Smith-Magenis syndrome deletions can be recurrent by utilizing alternate LCRs as homologous recombination substrates
-
Shaw CJ, Withers MA, Lupski JR (2004a) Uncommon Smith-Magenis syndrome deletions can be recurrent by utilizing alternate LCRs as homologous recombination substrates. Am J Hum Genet 75:75-81
-
(2004)
Am J Hum Genet
, vol.75
, pp. 75-81
-
-
Shaw, C.J.1
Withers, M.A.2
Lupski, J.R.3
-
48
-
-
1242269840
-
Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders
-
Shaw CJ, Shaw CA, Yu W, Stankiewicz P, White LD, Beaudet AL, Lupski JR (2004b) Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders. J Med Genet 41:113-119
-
(2004)
J Med Genet
, vol.41
, pp. 113-119
-
-
Shaw, C.J.1
Shaw, C.A.2
Yu, W.3
Stankiewicz, P.4
White, L.D.5
Beaudet, A.L.6
Lupski, J.R.7
-
49
-
-
0027509733
-
46,XX,15p+ documented as dup (17p) by fluorescence in situ hybridization
-
Spinner NB, Biegel JA, Sovinsky L, McDonald-McGinn D, Rehberg K, Parmiter AH, Zackai EH (1993) 46,XX,15p+ documented as dup (17p) by fluorescence in situ hybridization. Am J Med Genet 46:95-97
-
(1993)
Am J Med Genet
, vol.46
, pp. 95-97
-
-
Spinner, N.B.1
Biegel, J.A.2
Sovinsky, L.3
McDonald-McGinn, D.4
Rehberg, K.5
Parmiter, A.H.6
Zackai, E.H.7
-
50
-
-
0036591666
-
Molecular-evolutionary mechanisms for genomic disorders
-
Stankiewicz P, Lupski JR (2002) Molecular-evolutionary mechanisms for genomic disorders. Curr Opin Genet Dev 12:312-319
-
(2002)
Curr Opin Genet Dev
, vol.12
, pp. 312-319
-
-
Stankiewicz, P.1
Lupski, J.R.2
-
51
-
-
0034924052
-
The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP
-
Stankiewicz P, Park S-S, Inoue K, Lupski JR (2001a) The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP. Genome Res 1:1205-1210
-
(2001)
Genome Res
, vol.1
, pp. 1205-1210
-
-
Stankiewicz, P.1
Park, S.-S.2
Inoue, K.3
Lupski, J.R.4
-
52
-
-
0035190032
-
Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: Molecular analysis and delineation of the phenotype
-
Stankiewicz P, Park S-S, Holder SE, Waters CS, Palmer RW, Berend SA, Shaffer LG, Potocki L, Lupski JR (2001b) Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype. Clin Genet 60:336-344 336-344
-
(2001)
Clin Genet
, vol.60
, pp. 336-344
-
-
Stankiewicz, P.1
Park, S.-S.2
Holder, S.E.3
Waters, C.S.4
Palmer, R.W.5
Berend, S.A.6
Shaffer, L.G.7
Potocki, L.8
Lupski, J.R.9
-
53
-
-
0038067849
-
Genome architecture catalyzes nonrecurrent chromosomal rearrangements
-
Stankiewicz P, Shaw CJ, Dapper JD, Wakui K, Shaffer LG, Withers M, Elizondo L, Park S-S, Lupski JR (2003) Genome architecture catalyzes nonrecurrent chromosomal rearrangements. Am J Hum Genet 72:1101-1116
-
(2003)
Am J Hum Genet
, vol.72
, pp. 1101-1116
-
-
Stankiewicz, P.1
Shaw, C.J.2
Dapper, J.D.3
Wakui, K.4
Shaffer, L.G.5
Withers, M.6
Elizondo, L.7
Park, S.-S.8
Lupski, J.R.9
-
54
-
-
8744265059
-
Serial segmental duplications during primate evolution result in complex human genome architecture
-
Stankiewicz P, Shaw CJ, Withers M, Inoue K, Lupski JR (2004) Serial segmental duplications during primate evolution result in complex human genome architecture. Genome Res 14:2209-2220
-
(2004)
Genome Res
, vol.14
, pp. 2209-2220
-
-
Stankiewicz, P.1
Shaw, C.J.2
Withers, M.3
Inoue, K.4
Lupski, J.R.5
-
55
-
-
33746981394
-
Complex chromosome rearrangements in 17p are associated with genomic architecture involving low-copy repeats
-
In: 55th Annual Meeting of the American Society of Human Genetics 25-29.10, Salt Lake City, Utah, USA
-
Stankiewicz P, Vissers LELM, Yatsenko SA, Crawford E, Creswick H, Gutter EM, de Vries BBA, Pfundt R, Marcelis C, Zackowski J, Lupski JR, Veltman JA (2005) Complex chromosome rearrangements in 17p are associated with genomic architecture involving low-copy repeats. In: 55th Annual meeting of the American Society of Human Genetics, 25-29.10, Salt Lake City, Utah, USA. Am J Hum Genet, p 157
-
(2005)
Am J Hum Genet
, pp. 157
-
-
Stankiewicz, P.1
Vissers, L.E.L.M.2
Yatsenko, S.A.3
Crawford, E.4
Creswick, H.5
Gutter, E.M.6
de Vries, B.B.A.7
Pfundt, R.8
Marcelis, C.9
Zackowski, J.10
Lupski, J.R.11
Veltman, J.A.12
-
56
-
-
0022480726
-
The human ribosomal RNA genes: Structure and organization of the complete repeating unit
-
Sylvester JE, Whiteman DA, Podolsky R, Pozsgay JM, Respess J, Schmickel RD (1986) The human ribosomal RNA genes: Structure and organization of the complete repeating unit. Hum Genet 73:193-198
-
(1986)
Hum Genet
, vol.73
, pp. 193-198
-
-
Sylvester, J.E.1
Whiteman, D.A.2
Podolsky, R.3
Pozsgay, J.M.4
Respess, J.5
Schmickel, R.D.6
-
57
-
-
0037301216
-
A candidate region for Asperger syndrome defined by two 17p breakpoints
-
Tentler D, Johannesson T, Johansson M, Råstam M, Gillberg C, Orsmark C, Carlsson B, Wahlström J, Dahl N (2003) A candidate region for Asperger syndrome defined by two 17p breakpoints. Eur J Hum Genet 11:189-195
-
(2003)
Eur J Hum Genet
, vol.11
, pp. 189-195
-
-
Tentler, D.1
Johannesson, T.2
Johansson, M.3
Råstam, M.4
Gillberg, C.5
Orsmark, C.6
Carlsson, B.7
Wahlström, J.8
Dahl, N.9
-
58
-
-
0038757833
-
14-3-3ε is important for neuronal migration by binding to NUDEL: A molecular explanation for Miller-Dieker syndrome
-
Toyo-oka K, Shionoya A, Gambello MJ, Cardoso C, Leventer R, Ward HL, Ayala R, Tsai L-H, Dobyns W, Ledbetter D, Hirotsune S, Wynshaw-Boris A (2003) 14-3-3ε is important for neuronal migration by binding to NUDEL: A molecular explanation for Miller-Dieker syndrome. Nat Genet 34:274-285
-
(2003)
Nat Genet
, vol.34
, pp. 274-285
-
-
Toyo-oka, K.1
Shionoya, A.2
Gambello, M.J.3
Cardoso, C.4
Leventer, R.5
Ward, H.L.6
Ayala, R.7
Tsai, L.-H.8
Dobyns, W.9
Ledbetter, D.10
Hirotsune, S.11
Wynshaw-Boris, A.12
-
59
-
-
0027269696
-
Charcot-Marie-Tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2→12
-
Upadhyaya M, Roberts SH, Farnham J, MacMillan JC, Clarke A, Heath JP, Hodges ICG, Harper PS (1993) Charcot-Marie-Tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2→12. Hum Genet 91:392-394
-
(1993)
Hum Genet
, vol.91
, pp. 392-394
-
-
Upadhyaya, M.1
Roberts, S.H.2
Farnham, J.3
MacMillan, J.C.4
Clarke, A.5
Heath, J.P.6
Hodges, I.C.G.7
Harper, P.S.8
-
61
-
-
25644437878
-
Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: Delineation of molecular breakpoints and clinical phenotype and comparison to other proximal 17p segmental duplications
-
Yatsenko SA, Treadwell-Deering D, Krull K, Glaze D, Horz M, Stankiewicz P, Lupski JR, Potocki L (2005) Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: Delineation of molecular breakpoints and clinical phenotype and comparison to other proximal 17p segmental duplications. Am J Med Genet 138A:175-180
-
(2005)
Am J Med Genet
, vol.138 A
, pp. 175-180
-
-
Yatsenko, S.A.1
Treadwell-Deering, D.2
Krull, K.3
Glaze, D.4
Horz, M.5
Stankiewicz, P.6
Lupski, J.R.7
Potocki, L.8
-
62
-
-
10744221541
-
Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions
-
Yu W, Ballif BC, Kashork CD, Heilstedt HA, Howard LA, Cai W-W, White LD, Liu W, Beaudet AL, Bejjani BA, Shaw CA, Shaffer LG (2003) Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions. Hum Mol Genet 12:2145-2152
-
(2003)
Hum Mol Genet
, vol.12
, pp. 2145-2152
-
-
Yu, W.1
Ballif, B.C.2
Kashork, C.D.3
Heilstedt, H.A.4
Howard, L.A.5
Cai, W.-W.6
White, L.D.7
Liu, W.8
Beaudet, A.L.9
Bejjani, B.A.10
Shaw, C.A.11
Shaffer, L.G.12
-
63
-
-
33646184682
-
DNA Sequence of human chromosome 17 and comparison with mouse chromosome 11
-
Zody MC, Garber M, Adams DJ, Sharpe T, Harrow J, Lupski JR et al (2006) DNA Sequence of human chromosome 17 and comparison with mouse chromosome 11. Nature 44:1045-1050
-
(2006)
Nature
, vol.44
, pp. 1045-1050
-
-
Zody, M.C.1
Garber, M.2
Adams, D.J.3
Sharpe, T.4
Harrow, J.5
Lupski, J.R.6
|