-
1
-
-
0029068708
-
Detection of a subtle rearrangement of chromosome 22 using molecular techniques
-
Biesecker LG, Rosenberg M, Dziadzio L, Ledbetter DH, Ning Y, Sarneso C, Rosenbaum K (1995) Detection of a subtle rearrangement of chromosome 22 using molecular techniques. Am J Med Genet 58:389-394
-
(1995)
Am J Med Genet
, vol.58
, pp. 389-394
-
-
Biesecker, L.G.1
Rosenberg, M.2
Dziadzio, L.3
Ledbetter, D.H.4
Ning, Y.5
Sarneso, C.6
Rosenbaum, K.7
-
3
-
-
0031778070
-
Mutation rate in human microsatellites: Influence of the structure and length of the tandem repeat
-
Brinkmann B, Klintschar M, Neuhuber F, Huhne J, Rolf B (1998) Mutation rate in human microsatellites: influence of the structure and length of the tandem repeat. Am J Hum Genet 62:1408-1415
-
(1998)
Am J Hum Genet
, vol.62
, pp. 1408-1415
-
-
Brinkmann, B.1
Klintschar, M.2
Neuhuber, F.3
Huhne, J.4
Rolf, B.5
-
4
-
-
0029988255
-
A metric map of humans: 23,500 loci in 850 bands
-
Collins A, Frezal J, Teague J, Morton NE (1996) A metric map of humans: 23,500 loci in 850 bands. Proc Natl Acad Sci USA 93:14771-14775
-
(1996)
Proc Natl Acad Sci USA
, vol.93
, pp. 14771-14775
-
-
Collins, A.1
Frezal, J.2
Teague, J.3
Morton, N.E.4
-
5
-
-
0028798545
-
The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation
-
Flint J, Wilkie AOM, Buckle VJ, Winter RM, Holland AJ, McDermid HE (1995) The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nat Genet 9:132-139
-
(1995)
Nat Genet
, vol.9
, pp. 132-139
-
-
Flint, J.1
Wilkie, A.O.M.2
Buckle, V.J.3
Winter, R.M.4
Holland, A.J.5
McDermid, H.E.6
-
6
-
-
0031899453
-
A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardation
-
Ghaffari SR, Boyd E, Tolmie JL, Crow YJ, Trainer AH, Connor JM (1998) A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardation. J Med Genet 35:225-233
-
(1998)
J Med Genet
, vol.35
, pp. 225-233
-
-
Ghaffari, S.R.1
Boyd, E.2
Tolmie, J.L.3
Crow, Y.J.4
Trainer, A.H.5
Connor, J.M.6
-
7
-
-
0001745242
-
Molecular cytogenetics of contiguous gene syndromes: Mechanisms and consequences of gene dosage imbalances
-
Scriver CR, Beaudet AL, Sly WS, Valle D (eds). McGraw-Hill, New York
-
Ledbetter DH, Ballabio A (1995) Molecular cytogenetics of contiguous gene syndromes: Mechanisms and consequences of gene dosage imbalances. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. Vol 1. McGraw-Hill, New York, pp 811-839
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease
, vol.1
, pp. 811-839
-
-
Ledbetter, D.H.1
Ballabio, A.2
-
8
-
-
0029162269
-
Uniparental disomy in humans: Development of an imprinting map and its implications for prenatal diagnosis
-
Ledbetter DH, Engel E (1995) Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis. Hum Mol Genet 4:1757-1764
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1757-1764
-
-
Ledbetter, D.H.1
Engel, E.2
-
9
-
-
0023792118
-
Interstitial and terminal deletions of the long arm of chromosome 4: Further delineation of phenotypes
-
Lin AE, Garver KL, Diggans G, Clemens M, Wenger SL, Steele MW, Jones MC, et al (1988) Interstitial and terminal deletions of the long arm of chromosome 4: further delineation of phenotypes. Am J Med Genet 31:533-548
-
(1988)
Am J Med Genet
, vol.31
, pp. 533-548
-
-
Lin, A.E.1
Garver, K.L.2
Diggans, G.3
Clemens, M.4
Wenger, S.L.5
Steele, M.W.6
Jones, M.C.7
-
10
-
-
0025868571
-
DNA duplication associated with Charcot-Marie-Tooth disease type 1A
-
Lupski JR, de Oca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo-Cardenas O, et al (1991) DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66:219-232
-
(1991)
Cell
, vol.66
, pp. 219-232
-
-
Lupski, J.R.1
De Oca-Luna, R.M.2
Slaugenhaupt, S.3
Pentao, L.4
Guzzetta, V.5
Trask, B.J.6
Saucedo-Cardenas, O.7
-
11
-
-
0031754413
-
Pathological consequences of sequence duplications in the human genome
-
Mazzarella R, Schlessinger D (1998) Pathological consequences of sequence duplications in the human genome. Genome Res 8:1007-1021
-
(1998)
Genome Res
, vol.8
, pp. 1007-1021
-
-
Mazzarella, R.1
Schlessinger, D.2
-
14
-
-
0019484902
-
Incomplete trisomy 22. II. Familial trisomy of the distal segment of chromosome 22q in two brothers from a mother with a translocation, t(6;22)(q27;q13)
-
-(1981) Incomplete trisomy 22. II. Familial trisomy of the distal segment of chromosome 22q in two brothers from a mother with a translocation, t(6;22)(q27;q13). Hum Genet 56:263-268
-
(1981)
Hum Genet
, vol.56
, pp. 263-268
-
-
-
15
-
-
0038214755
-
Multicolor spectral karyotyping of human chromosomes
-
Schröck E, du Manoir S, Veldman T, Schoell B, Wienberg J, Ferguson-Smith MA, Ning Y, et al (1996) Multicolor spectral karyotyping of human chromosomes. Science 273:494-497
-
(1996)
Science
, vol.273
, pp. 494-497
-
-
Schröck, E.1
Du Manoir, S.2
Veldman, T.3
Schoell, B.4
Wienberg, J.5
Ferguson-Smith, M.A.6
Ning, Y.7
-
16
-
-
0032901062
-
Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres
-
Slavotinek A, Rosenberg M, Knight S, Gaunt L, Fergusson W, Killoran C, Clayton-Smith J, et al (1999) Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres. J Med Genet 36:405-411
-
(1999)
J Med Genet
, vol.36
, pp. 405-411
-
-
Slavotinek, A.1
Rosenberg, M.2
Knight, S.3
Gaunt, L.4
Fergusson, W.5
Killoran, C.6
Clayton-Smith, J.7
-
17
-
-
0029912473
-
Karyotyping human chromosomes by combinatorial multi-fluor FISH
-
Speicher MR, Ballard SG, 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
Ballard, S.G.2
Ward, D.C.3
-
18
-
-
0029814318
-
Characterization of familial partial 10p trisomy by chromosomal microdissection, FISH, and microsatellite dosage analysis
-
Stone D, Ning Y, Guan XY, Kaiser-Kupfer M, Wynshaw-Boris A, Biesecker L (1996) Characterization of familial partial 10p trisomy by chromosomal microdissection, FISH, and microsatellite dosage analysis. Hum Genet 98:396-402
-
(1996)
Hum Genet
, vol.98
, pp. 396-402
-
-
Stone, D.1
Ning, Y.2
Guan, X.Y.3
Kaiser-Kupfer, M.4
Wynshaw-Boris, A.5
Biesecker, L.6
-
19
-
-
0033362090
-
Multiplex-FISH for pre-and postnatal diagnostic applications
-
Uhrig S, Schuffenhauer S, Fauth C, Wirtz A, Daumer-Haas C, Apacik C, Cohen M, et al (1999) Multiplex-FISH for pre-and postnatal diagnostic applications. Am J Hum Genet 65: 448-462
-
(1999)
Am J Hum Genet
, vol.65
, pp. 448-462
-
-
Uhrig, S.1
Schuffenhauer, S.2
Fauth, C.3
Wirtz, A.4
Daumer-Haas, C.5
Apacik, C.6
Cohen, M.7
-
21
-
-
0032524383
-
Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome
-
Wang DG, Fan JB, Siao CJ, Berno A, Young P, Sapolsky R, Ghandour G, et al (1998) Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome. Science 280:1077-1082
-
(1998)
Science
, vol.280
, pp. 1077-1082
-
-
Wang, D.G.1
Fan, J.B.2
Siao, C.J.3
Berno, A.4
Young, P.5
Sapolsky, R.6
Ghandour, G.7
-
22
-
-
0027161022
-
Mutation of human short tandem repeats
-
Weber JL, Wong C (1993) Mutation of human short tandem repeats. Hum Mol Genet 2:1123-1128
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1123-1128
-
-
Weber, J.L.1
Wong, C.2
-
23
-
-
0027361785
-
Detection of cryptic chromosomal abnormalities in unexplained mental retardation: A general strategy using hypervariable subtelomeric dna polymorphisms
-
Wilkie AOM (1993) Detection of cryptic chromosomal abnormalities in unexplained mental retardation: a general strategy using hypervariable subtelomeric DNA polymorphisms. Am J Hum Genet 53:688-701
-
(1993)
Am J Hum Genet
, vol.53
, pp. 688-701
-
-
Wilkie, A.O.M.1
|