-
1
-
-
0033764929
-
The promise and pitfalls of telomere region-specific probes
-
Ballif BC, Kashork CD, Shaffer LG. 2000. The promise and pitfalls of telomere region-specific probes. Am J Hum Genet 67:1356-1359.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1356-1359
-
-
Ballif, B.C.1
Kashork, C.D.2
Shaffer, L.G.3
-
2
-
-
34547644495
-
The clinical utility of enhanced subtelomeric coverage in array CGH
-
Ballif BC, Sulpizio SG, Lloyd RM, Minier SL, Theisen A, Bejjani BA, Shaffer LG. 2007. The clinical utility of enhanced subtelomeric coverage in array CGH. Am J Med Genet Part A 143A:1850-1857.
-
(2007)
Am J Med Genet
, vol.143 A
, Issue.PART A
, pp. 1850-1857
-
-
Ballif, B.C.1
Sulpizio, S.G.2
Lloyd, R.M.3
Minier, S.L.4
Theisen, A.5
Bejjani, B.A.6
Shaffer, L.G.7
-
3
-
-
0036467131
-
The end of the beginning of chromosome ends
-
Biesecker LG. 2002. The end of the beginning of chromosome ends. Am J Med Genet 107:263-266.
-
(2002)
Am J Med Genet
, vol.107
, pp. 263-266
-
-
Biesecker, L.G.1
-
4
-
-
0025357063
-
Telomere cloning and mammalian chromosome analysis
-
Brown WR, Dobson MJ, MacKinnon P. 1990a. Telomere cloning and mammalian chromosome analysis. J Cell Sci 95:521-526.
-
(1990)
J Cell Sci
, vol.95
, pp. 521-526
-
-
Brown, W.R.1
Dobson, M.J.2
MacKinnon, P.3
-
5
-
-
0025086570
-
Structure and polymorphism of human telomere-associated DNA
-
Brown WR, MacKinnon PJ, Villasante A, Spurr N, Buckle VJ, Dobson MJ. 1990b. Structure and polymorphism of human telomere-associated DNA. Cell 63:119-132.
-
(1990)
Cell
, vol.63
, pp. 119-132
-
-
Brown, W.R.1
MacKinnon, P.J.2
Villasante, A.3
Spurr, N.4
Buckle, V.J.5
Dobson, M.J.6
-
6
-
-
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
-
7
-
-
0024535443
-
Cloning of human telomeres by complementation in yeast
-
Cross SH, Allshire RC, McKay SJ, McGill NI, Cooke HJ. 1989. Cloning of human telomeres by complementation in yeast. Nature 338:771-774.
-
(1989)
Nature
, vol.338
, pp. 771-774
-
-
Cross, S.H.1
Allshire, R.C.2
McKay, S.J.3
McGill, N.I.4
Cooke, H.J.5
-
8
-
-
17644424608
-
Calibration of 6q subtelomere deletions to define genotype/ phenotype correlations
-
Eash D, Waggoner D, Chung J, Stevenson D, Martin CL. 2005. Calibration of 6q subtelomere deletions to define genotype/ phenotype correlations. Clin Genet 67: 396-403.
-
(2005)
Clin Genet
, vol.67
, pp. 396-403
-
-
Eash, D.1
Waggoner, D.2
Chung, J.3
Stevenson, D.4
Martin, C.L.5
-
9
-
-
1942499458
-
An assessment of the sequence gaps: Unfinished business in a finished human genome
-
Eichler EE, Clark RA, She X. 2004. An assessment of the sequence gaps: Unfinished business in a finished human genome. Nat Rev Genet 5:345-354.
-
(2004)
Nat Rev Genet
, vol.5
, pp. 345-354
-
-
Eichler, E.E.1
Clark, R.A.2
She, X.3
-
10
-
-
0038406165
-
Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome
-
Heilstedt HA, Ballif BC, Howard LA, Lewis RA, Stal S, Kashork CD, Bacino CA, Shapira SK, Shaffer LG. 2003. Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet 72:1200-1212.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 1200-1212
-
-
Heilstedt, H.A.1
Ballif, B.C.2
Howard, L.A.3
Lewis, R.A.4
Stal, S.5
Kashork, C.D.6
Bacino, C.A.7
Shapira, S.K.8
Shaffer, L.G.9
-
11
-
-
12944286496
-
Subtelomeric rearrangements as neutral genomic polymorphisms
-
Hengstschlager M, Prusa A, Repa C, Deutinger J, Pollak A, Bernaschek G. 2005. Subtelomeric rearrangements as neutral genomic polymorphisms. Am J Med Genet Part A 133A:48-52.
-
(2005)
Am J Med Genet
, vol.133 A
, Issue.PART A
, pp. 48-52
-
-
Hengstschlager, M.1
Prusa, A.2
Repa, C.3
Deutinger, J.4
Pollak, A.5
Bernaschek, G.6
-
12
-
-
4444291843
-
Detection of large-scale variation in the human genome
-
Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW, Lee C. 2004. Detection of large-scale variation in the human genome. Nat Genet 36:949-951.
-
(2004)
Nat Genet
, vol.36
, pp. 949-951
-
-
Iafrate, A.J.1
Feuk, L.2
Rivera, M.N.3
Listewnik, M.L.4
Donahoe, P.K.5
Qi, Y.6
Scherer, S.W.7
Lee, C.8
-
13
-
-
0026495364
-
Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors
-
Kallioniemi A, Kallioniemi OP, Sudar D, Rutovitz D, Gray JW, Waldman F, Pinkel D. 1992. Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science 258:818-821.
-
(1992)
Science
, vol.258
, pp. 818-821
-
-
Kallioniemi, A.1
Kallioniemi, O.P.2
Sudar, D.3
Rutovitz, D.4
Gray, J.W.5
Waldman, F.6
Pinkel, D.7
-
14
-
-
0033552424
-
Subtle chromosomal rearrangements in children with unexplained mental retardation
-
Knight SJ, Regan R, Nicod A, Horsley SW, Kearney L, Homfray T, Winter RM, Bolton P, Flint J. 1999. Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet 354: 1676-1681.
-
(1999)
Lancet
, vol.354
, pp. 1676-1681
-
-
Knight, S.J.1
Regan, R.2
Nicod, A.3
Horsley, S.W.4
Kearney, L.5
Homfray, T.6
Winter, R.M.7
Bolton, P.8
Flint, J.9
-
15
-
-
0033851883
-
An optimized set of human telomere clones for studying telomere integrity and architecture
-
Knight SJ, Lese CM, Precht KS, Kuc J, Ning Y, Lucas S, Regan R, Brenan M, Nicod A, Lawrie NM, Cardy DL, Nguyen H, Hudson TJ, Riethman HC, Ledbetter DH, Flint J. 2000. An optimized set of human telomere clones for studying telomere integrity and architecture. Am J Hum Genet 67:320-332.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 320-332
-
-
Knight, S.J.1
Lese, C.M.2
Precht, K.S.3
Kuc, J.4
Ning, Y.5
Lucas, S.6
Regan, R.7
Brenan, M.8
Nicod, A.9
Lawrie, N.M.10
Cardy, D.L.11
Nguyen, H.12
Hudson, T.J.13
Riethman, H.C.14
Ledbetter, D.H.15
Flint, J.16
-
16
-
-
0026746602
-
Minireview: Cryptic translocations and telomere integrity
-
Ledbetter DH. 1992. Minireview: Cryptic translocations and telomere integrity. Am J Hum Genet 51:451-456.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 451-456
-
-
Ledbetter, D.H.1
-
17
-
-
0006547858
-
The means to an end: Exploring human telomeres
-
Lese CM, Ledbetter DH. 1998. The means to an end: Exploring human telomeres. J Assoc Genet Technol 24:165-170.
-
(1998)
J Assoc Genet Technol
, vol.24
, pp. 165-170
-
-
Lese, C.M.1
Ledbetter, D.H.2
-
19
-
-
36348950282
-
The evolution of molecular ruler analysis for characterizing telomere imbalances: From FISH to Array CGH
-
in press
-
Lese Martin C, Nawaz Z, Baldwin EL, Wallace EJ, Justice AN, Ledbetter DH. The evolution of molecular ruler analysis for characterizing telomere imbalances: From FISH to Array CGH. Genet Med (in press).
-
Genet Med
-
-
Lese Martin, C.1
Nawaz, Z.2
Baldwin, E.L.3
Wallace, E.J.4
Justice, A.N.5
Ledbetter, D.H.6
-
20
-
-
24344442909
-
Human subtelomeres are hot spots of interchromosomal recombination and segmental duplication
-
Linardopoulou EV, Williams EM, Fan Y, Friedman C, Young JM, Trask BJ. 2005. Human subtelomeres are hot spots of interchromosomal recombination and segmental duplication. Nature 437:94-100.
-
(2005)
Nature
, vol.437
, pp. 94-100
-
-
Linardopoulou, E.V.1
Williams, E.M.2
Fan, Y.3
Friedman, C.4
Young, J.M.5
Trask, B.J.6
-
21
-
-
0027959201
-
Sequence organization of the human chromosome 2q telomere
-
Macina RA, Negorev DG, Spais C, Ruthig LA, Hu XL, Riethman HC. 1994. Sequence organization of the human chromosome 2q telomere. Hum Mol Genet 3:1847-1853.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1847-1853
-
-
Macina, R.A.1
Negorev, D.G.2
Spais, C.3
Ruthig, L.A.4
Hu, X.L.5
Riethman, H.C.6
-
22
-
-
0028857733
-
Molecular cloning and RARE cleavage mapping of human 2p, 6q, 8q, 12q, and 18q telomeres
-
Macina RA, Morii K, Hu XL, Negorev DG, Spais C, Ruthig LA, Riethman HC. 1995. Molecular cloning and RARE cleavage mapping of human 2p, 6q, 8q, 12q, and 18q telomeres. Genome Res 5:225-232.
-
(1995)
Genome Res
, vol.5
, pp. 225-232
-
-
Macina, R.A.1
Morii, K.2
Hu, X.L.3
Negorev, D.G.4
Spais, C.5
Ruthig, L.A.6
Riethman, H.C.7
-
23
-
-
0035078603
-
Clinical and molecular characterisation of 80 patients with 5p deletion: Genotype-phenotype correlation
-
Mainardi PC, Perfumo C, Call A, Coucourde G, Pastore G, Cavani S, Zara F, Overhauser J, Pierluigi M, Bricarelli FD. 2001. Clinical and molecular characterisation of 80 patients with 5p deletion: Genotype-phenotype correlation. J Med Genet 38:151-158.
-
(2001)
J Med Genet
, vol.38
, pp. 151-158
-
-
Mainardi, P.C.1
Perfumo, C.2
Call, A.3
Coucourde, G.4
Pastore, G.5
Cavani, S.6
Zara, F.7
Overhauser, J.8
Pierluigi, M.9
Bricarelli, F.D.10
-
24
-
-
18644368725
-
Molecular rulers for calibrating phenotypic effects of telomere imbalance
-
Martin CL, Waggoner DJ, Wong A, Uhrig S, Roseberry JA, Hedrick JF, Pack SD, Russell K, Zackai E, Dobyns WB, Ledbetter DH. 2002. "Molecular rulers" for calibrating phenotypic effects of telomere imbalance. J Med Genet 39:734-740.
-
(2002)
J Med Genet
, vol.39
, pp. 734-740
-
-
Martin, C.L.1
Waggoner, D.J.2
Wong, A.3
Uhrig, S.4
Roseberry, J.A.5
Hedrick, J.F.6
Pack, S.D.7
Russell, K.8
Zackai, E.9
Dobyns, W.B.10
Ledbetter, D.H.11
-
25
-
-
16044371402
-
A complete set of human telomeric probes and their clinical application. National Institutes of Health and Institute of Molecular Medicine Collaboration
-
Ning Y, Roschke A, Smith ACM, Macha M, Precht K, Riethman H, Ledbetter DH, Flint J, Horsley S, Regan R, Kearney L, Knight S, Kvaloy K, Brown WRA. 1996. A complete set of human telomeric probes and their clinical application. National Institutes of Health and Institute of Molecular Medicine Collaboration. Nat Genet 14:86-89.
-
(1996)
Nat Genet
, vol.14
, pp. 86-89
-
-
Ning, Y.1
Roschke, A.2
Smith, A.C.M.3
Macha, M.4
Precht, K.5
Riethman, H.6
Ledbetter, D.H.7
Flint, J.8
Horsley, S.9
Regan, R.10
Kearney, L.11
Knight, S.12
Kvaloy, K.13
Brown, W.R.A.14
-
26
-
-
17344371740
-
High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays
-
Pinkel D, Segraves R, Sudar D, Clark S, Poole I, Kowbel D, Collins C, Kuo WL, Chen C, Zhai Y, Dairkee SH, Ljung BM, Gray JW, Albertson DG. 1998. High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet 20:207-211.
-
(1998)
Nat Genet
, vol.20
, pp. 207-211
-
-
Pinkel, D.1
Segraves, R.2
Sudar, D.3
Clark, S.4
Poole, I.5
Kowbel, D.6
Collins, C.7
Kuo, W.L.8
Chen, C.9
Zhai, Y.10
Dairkee, S.H.11
Ljung, B.M.12
Gray, J.W.13
Albertson, D.G.14
-
27
-
-
33745226965
-
Subtelomere FISH analysis of 11 688 cases: An evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities
-
Ravnan JB, Tepperberg JH, Papenhausen P, Lamb AN, Hedrick J, Eash D, Ledbetter DH, Martin CL. 2006. Subtelomere FISH analysis of 11 688 cases: An evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. J Med Genet 43:478-489.
-
(2006)
J Med Genet
, vol.43
, pp. 478-489
-
-
Ravnan, J.B.1
Tepperberg, J.H.2
Papenhausen, P.3
Lamb, A.N.4
Hedrick, J.5
Eash, D.6
Ledbetter, D.H.7
Martin, C.L.8
-
28
-
-
33751329250
-
-
Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, Cho EK, Dallaire S, Freeman JL, Gonzalez JR, Gratacos M, Huang J, Kalaitzopoulos D, Komura D, MacDonald JR, Marshall CR, Mei R, Montgomery L, Nishimura K, Okamura K, Shen F, Somerville MJ, Tchinda J, Valsesia A, Woodwark C, Yang F, Zhang J, Zerjal T, Zhang J, Armengol L, Conrad DF, Estivill X, Tyler-Smith C, Carter NP, Aburatani H, Lee C, Jones KW, Scherer SW, Hurles ME. 2006. Global variation in copy number in the human genome. Nature 444:444-454.
-
Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, Cho EK, Dallaire S, Freeman JL, Gonzalez JR, Gratacos M, Huang J, Kalaitzopoulos D, Komura D, MacDonald JR, Marshall CR, Mei R, Montgomery L, Nishimura K, Okamura K, Shen F, Somerville MJ, Tchinda J, Valsesia A, Woodwark C, Yang F, Zhang J, Zerjal T, Zhang J, Armengol L, Conrad DF, Estivill X, Tyler-Smith C, Carter NP, Aburatani H, Lee C, Jones KW, Scherer SW, Hurles ME. 2006. Global variation in copy number in the human genome. Nature 444:444-454.
-
-
-
-
29
-
-
0024345904
-
Cloning human telomeric DNA fragments into Saccharomyces cerevisiae using a yeast-artificial-chromosome vector
-
Riethman HC, Moyzis RK, Meyne J, Burke DT, Olson MV. 1989. Cloning human telomeric DNA fragments into Saccharomyces cerevisiae using a yeast-artificial-chromosome vector. Proc Natl Acad Sci USA 86:6240-6244.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 6240-6244
-
-
Riethman, H.C.1
Moyzis, R.K.2
Meyne, J.3
Burke, D.T.4
Olson, M.V.5
-
30
-
-
0034805155
-
Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations
-
Rosenberg MJ, Killoran C, Dziadzio L, Chang S, Stone DL, Meek J, Aughton D, Bird LM, Bodurtha J, Cassidy SB, Graham JM, Grix A, Guttmacher AE, Hudgins L, Kozma C, Michaelis RC, Pauli R, Peters KF, Rosenbaum KN, Tifft CJ, Wargowski D, Williams MS, Biesecker LG. 2001. Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations. Hum Genet 109:311-318.
-
(2001)
Hum Genet
, vol.109
, pp. 311-318
-
-
Rosenberg, M.J.1
Killoran, C.2
Dziadzio, L.3
Chang, S.4
Stone, D.L.5
Meek, J.6
Aughton, D.7
Bird, L.M.8
Bodurtha, J.9
Cassidy, S.B.10
Graham, J.M.11
Grix, A.12
Guttmacher, A.E.13
Hudgins, L.14
Kozma, C.15
Michaelis, R.C.16
Pauli, R.17
Peters, K.F.18
Rosenbaum, K.N.19
Tifft, C.J.20
Wargowski, D.21
Williams, M.S.22
Biesecker, L.G.23
more..
-
31
-
-
0038214755
-
Multicolor spectral karyotyping of human chromosomes
-
Schrock E, du Manoir S, Veldman T, Schoell B, Wienberg J, Ferguson-Smith MA, Ning Y, Ledbetter DH, Bar-Am I, Soenksen D, Garini Y, Ried T. 1996. Multicolor spectral karyotyping of human chromosomes. Science 273:494-497.
-
(1996)
Science
, vol.273
, pp. 494-497
-
-
Schrock, E.1
du Manoir, S.2
Veldman, T.3
Schoell, B.4
Wienberg, J.5
Ferguson-Smith, M.A.6
Ning, Y.7
Ledbetter, D.H.8
Bar-Am, I.9
Soenksen, D.10
Garini, Y.11
Ried, T.12
-
32
-
-
3242808027
-
Large-scale copy number polymorphism in the human genome
-
Sebat J, Lakshmi B, Troge J, Alexander J, Young J, Lundin P, Maner S, Massa H, Walker M, Chi M, Navin N, Lucito R, Healy J, Hicks J, Ye K, Reiner A, Gilliam TC, Trask B, Patterson N, Zetterberg A, Wigler M. 2004. Large-scale copy number polymorphism in the human genome. Science 305:525-528.
-
(2004)
Science
, vol.305
, pp. 525-528
-
-
Sebat, J.1
Lakshmi, B.2
Troge, J.3
Alexander, J.4
Young, J.5
Lundin, P.6
Maner, S.7
Massa, H.8
Walker, M.9
Chi, M.10
Navin, N.11
Lucito, R.12
Healy, J.13
Hicks, J.14
Ye, K.15
Reiner, A.16
Gilliam, T.C.17
Trask, B.18
Patterson, N.19
Zetterberg, A.20
Wigler, M.21
more..
-
33
-
-
28644446258
-
American College of Medical Genetics Professional Practice and Guidelines Committee. American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation
-
Shaffer LG. 2005. American College of Medical Genetics Professional Practice and Guidelines Committee. American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation. Genet Med 7:650-654.
-
(2005)
Genet Med
, vol.7
, pp. 650-654
-
-
Shaffer, L.G.1
-
34
-
-
33746167778
-
Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases
-
Shaffer LG, Kashork CD, Saleki R, Rorem E, Sundin K, Ballif BC, Bejjani BA. 2006. Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. J Pediatr 149:98-102.
-
(2006)
J Pediatr
, vol.149
, pp. 98-102
-
-
Shaffer, L.G.1
Kashork, C.D.2
Saleki, R.3
Rorem, E.4
Sundin, K.5
Ballif, B.C.6
Bejjani, B.A.7
-
35
-
-
0037432002
-
Practice parameter: Evaluation of the child with global developmental delay: Report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society
-
Shevell M, Ashwal S, Donley D, Flint J, Gingold M, Hirtz D, Majnemer A, Noetzel M, Sheth RD. 2003. Practice parameter: Evaluation of the child with global developmental delay: Report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society. Neurology 60: 367-380.
-
(2003)
Neurology
, vol.60
, pp. 367-380
-
-
Shevell, M.1
Ashwal, S.2
Donley, D.3
Flint, J.4
Gingold, M.5
Hirtz, D.6
Majnemer, A.7
Noetzel, M.8
Sheth, R.D.9
-
36
-
-
0029912473
-
Karyotyping human chromosomes by combinatorial multi-fluor FISH
-
Speicher MR, Gwyn Ballard S, Ward DC. 1996. Karyotyping human chromosomes by combinatorial multi-fluor FISH. Nat Genet 12:368-375.
-
(1996)
Nat Genet
, vol.12
, pp. 368-375
-
-
Speicher, M.R.1
Gwyn Ballard, S.2
Ward, D.C.3
-
37
-
-
22844451617
-
Fine-scale structural variation of the human genome
-
Tuzun E, Sharp AJ, Bailey JA, Kaul R, Morrison VA, Pertz LM, Haugen E, Hayden H, Albertson D, Pinkel D, Olson MV, Eichler EE. 2005. Fine-scale structural variation of the human genome. Nat Genet 37:727-732.
-
(2005)
Nat Genet
, vol.37
, pp. 727-732
-
-
Tuzun, E.1
Sharp, A.J.2
Bailey, J.A.3
Kaul, R.4
Morrison, V.A.5
Pertz, L.M.6
Haugen, E.7
Hayden, H.8
Albertson, D.9
Pinkel, D.10
Olson, M.V.11
Eichler, E.E.12
-
38
-
-
0026085703
-
Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16
-
Wilkie AO, Higgs DR, Rack KA, Buckle VJ, Spurr NK, Fischel-Ghodsian N, Ceccherini I, Brown WR, Harris PC. 1991. Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16. Cell 64:595-606.
-
(1991)
Cell
, vol.64
, pp. 595-606
-
-
Wilkie, A.O.1
Higgs, D.R.2
Rack, K.A.3
Buckle, V.J.4
Spurr, N.K.5
Fischel-Ghodsian, N.6
Ceccherini, I.7
Brown, W.R.8
Harris, P.C.9
-
39
-
-
18344389362
-
Detection and calibration of microdeletions and microduplications by array-based comparative genomic hybridization and its applicability to clinical genetic testing
-
Wong A, Lese Martin C, Heretis K, Ruffalo T, Wilber K, King W, Ledbetter DH. 2005. Detection and calibration of microdeletions and microduplications by array-based comparative genomic hybridization and its applicability to clinical genetic testing. Genet Med 7:264-271.
-
(2005)
Genet Med
, vol.7
, pp. 264-271
-
-
Wong, A.1
Lese Martin, C.2
Heretis, K.3
Ruffalo, T.4
Wilber, K.5
King, W.6
Ledbetter, D.H.7
-
40
-
-
0034684044
-
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome
-
Zollino M, Di Stefano C, Zampino G, Mastroiacovo P, Wright TJ, Sorge G, Selicorni A, Tenconi R, Zappala A, Battaglia A, Di Rocco M, Palka G, Pallotta R, Altherr MR, Neri G. 2000. Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome. Am J Med Genet 94:254-261.
-
(2000)
Am J Med Genet
, vol.94
, pp. 254-261
-
-
Zollino, M.1
Di Stefano, C.2
Zampino, G.3
Mastroiacovo, P.4
Wright, T.J.5
Sorge, G.6
Selicorni, A.7
Tenconi, R.8
Zappala, A.9
Battaglia, A.10
Di Rocco, M.11
Palka, G.12
Pallotta, R.13
Altherr, M.R.14
Neri, G.15
|