-
4
-
-
0033361765
-
Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints
-
(1999)
Am J Hum Genet
, vol.65
, pp. 370-386
-
-
Amos-Landgraf, J.M.1
Ji, Y.2
Gottlieb, W.3
Depinet, T.4
Wandstrat, A.E.5
Cassidy, S.B.6
Driscoll, D.J.7
Rogan, P.K.8
Schwartz, S.9
Nicholls, R.D.10
-
13
-
-
19144371365
-
Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus
-
(1996)
Hum Mutat
, vol.7
, pp. 198-201
-
-
Capon, F.1
Levato, C.2
Bussaglia, E.3
Lo Cicero, S.4
Tizzano, E.F.5
Baiget, M.6
Silani, V.7
Pizzuti, A.8
Novelli, G.9
Dallapiccola, B.10
-
14
-
-
0030881588
-
Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome
-
(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
-
17
-
-
0024815723
-
Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications
-
(1989)
Am J Hum Genet
, vol.45
, pp. 835-847
-
-
Den Dunnen, J.T.1
Grootshcolten, P.M.2
Bakker, E.3
Blonden, L.A.J.4
Ginjaaar, H.B.5
Wapenaar, M.C.6
Van Paassen, H.M.B.7
Van Broeckhoven, C.8
Pearson, P.L.9
Van Ommen, G.J.B.10
-
21
-
-
0035159359
-
AT-rich palindromes mediate the constitutional t(11;22) translocation
-
(2001)
Am J Hum Genet
, vol.68
, pp. 1-13
-
-
Edelmann, L.1
Spiteri, E.2
Koren, K.3
Pulijaal, V.4
Bialer, M.G.5
Shanske, A.6
Goldberg, R.7
Morrow, B.E.8
-
24
-
-
0026683724
-
A novel PCR method for amplifying exons (or genes) over intragenic (or intergenic) regions in the genome
-
(1992)
Nucleic Acids Res
, vol.20
, pp. 2903
-
-
Fu, P.1
Evans, B.2
-
26
-
-
0026648772
-
V(D)J recombinase-mediated deletion of the hprt gene in T-lymphocytes from adult humans
-
(1992)
Mutat Res
, vol.283
, pp. 13-20
-
-
Fuscoe, J.C.1
Zimmerman, L.J.2
Harrington-Brock, K.3
Burnette, L.4
Moore, M.M.5
Nicklas, J.A.6
O'Neill, J.P.7
Albertini, R.J.8
-
30
-
-
0034076439
-
Identification of a novel 4.6-kb genomic deletion in presenilin-1 gene which results in exclusion of exon 9 in a Finnish early onset Alzheimer's disease family: An Alu core sequence-stimulated recombination?
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 259-266
-
-
Hiltunen, M.1
Helisalmi, S.2
Mannermaa, A.3
Alafuzoff, I.4
Koivisto, A.M.5
Lehtovirta, M.6
Pirskanen, M.7
Sulkava, R.8
Verkkoniemi, A.9
Soininen, H.10
-
31
-
-
0025772873
-
Mechanisms of tandem duplication in the Duchenne muscular dystrophy gene include both homologous and nonhomologous intrachromosomal recombination
-
(1991)
EMBO J
, vol.10
, pp. 2471-2477
-
-
Hu, X.1
Ray, P.N.2
Worton, R.G.3
-
34
-
-
0032435968
-
The genomic breakpoint and chimeric transcripts in the EWSR1-ETV4/E1AF gene fusion in Ewing sarcoma
-
(1998)
Cytogenet Cell Genet
, vol.82
, pp. 278-283
-
-
Ishida, S.1
Yoshida, K.2
Kaneko, Y.3
Tanaka, Y.4
Sasaki, Y.5
Urano, F.6
Umezawa, A.7
Hata, J.8
Fujinaga, K.9
-
36
-
-
0000544518
-
Lesch-Nyhan disease and its variants
-
Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B, editors. New York: McGraw Hill
-
(2001)
The metabolic basis of inherited disease (Vol. II, 8th ed.)
, vol.2
, pp. 2537-2570
-
-
Jinnah, J.A.1
Friedman, T.2
-
38
-
-
0031025934
-
The second case of a t(17;22) in a family with neurofibromatosis type 1: Sequence analysis of the breakpoint regions
-
(1997)
Hum Genet
, vol.99
, pp. 237-247
-
-
Kehrer-Sawatzki, H.1
Haussler, J.2
Krone, W.3
Bode, H.4
Jenne, D.E.5
Mehnert, K.U.6
Tummers, U.7
Assum, G.8
-
39
-
-
0031883814
-
Molecular characterization and PCR diagnosis of Thailand deletion of alpha-globin gene cluster
-
(1998)
Am J Hematol
, vol.57
, pp. 124-130
-
-
Ko, T.M.1
Tseng, L.H.2
Kao, C.H.3
Lin, Y.W.4
Hwa, H.L.5
Hsu, P.M.6
Li, S.F.7
Chuang, S.M.8
-
41
-
-
0025762012
-
Gene deletions causing human genetic disease: Mechanisms of mutagenesis and the role of the local DNA sequence environment
-
(1991)
Hum Genet
, vol.86
, pp. 425-441
-
-
Krawczak, M.1
Cooper, D.N.2
-
42
-
-
0021872030
-
The mutational specificity of DNA polymerase during in vitro DNA synthesis
-
(1985)
J Biol Chem
, vol.260
, pp. 5787-5796
-
-
Kunkel, T.A.1
-
53
-
-
0026322613
-
Inactivation of the cholinesterase gene by Alu insertion: Possible mechanism for human gene transposition
-
(1991)
Proc Nat Acad Sci USA
, vol.88
, pp. 11315-11319
-
-
Muratani, K.1
Hada, T.2
Yamamoto, Y.3
Kaneko, T.4
Shigeto, Y.5
Ohue, T.6
Furuyama, J.7
Higashino, K.8
-
54
-
-
0023252353
-
A deletion involving alu sequences in the beta-hexosaminidase alpha-chain gene of French Canadians with Tay-Sachs disease
-
(1987)
J Biol Chem
, vol.262
, pp. 15396-15399
-
-
Myerowitz, R.1
Hogikyan, N.2
-
67
-
-
0033987366
-
Molecular mechanism for duplication 17p11.2: The homologous recombination reciprocal of the Smith-Magenis microdeletion
-
(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
-
68
-
-
0027195095
-
Current status of cytogenetic research in childhood acute lymphoblastic leukemia
-
(1993)
Blood
, vol.81
, pp. 2237-2251
-
-
Raimondi, S.C.1
-
71
-
-
0028385262
-
1993 American Society of Human Genetics presidential address: Can we meet the challenge?
-
(1994)
Am J Hum Genet
, vol.54
, pp. 403-413
-
-
Rowley, J.D.1
-
72
-
-
0034816788
-
Molecular characterization of the genomic breakpoint junction in the t(11;18)(q21;q21) translocation of a gastric MALT lymphoma
-
(2001)
Biochem Biophys Res Commun
, vol.280
, pp. 301-306
-
-
Sato, Y.1
Akiyama, Y.2
Tanizawa, T.3
Shibata, T.4
Saito, K.5
Mori, S.6
Kamiyama, R.7
Yuasa, Y.8
-
73
-
-
0029790975
-
Mosaicism of a microdeletion of 486 bp involving the CGG repeat of the FMR1 gene due to misalignment of GTT tandem repeats at chi-like elements flanking both breakpoints and a full mutation
-
(1996)
Hum Genet
, vol.98
, pp. 409-414
-
-
Schmucker, B.1
Ballhausen, W.G.2
Pfeiffer, R.A.3
-
80
-
-
17344368929
-
Topoisomerase I and II consensus sequences in a 17-kb deletion junction of the COL4A5 and COL4A6 genes and immunohistochemical analysis of esophageal leiomyomatosis associated with Alport syndrome
-
(2000)
Am J Hum Genet
, vol.62
, pp. 253-261
-
-
Ueki, Y.1
Naito, I.2
Oohashi, T.3
Sugimoto, M.4
Seki, T.5
Yoshioka, H.6
Sado, Y.7
Sato, H.8
Sawai, T.9
Sasaki, F.10
Matsuoka, M.11
Fukuda, S.12
Ninomiya, Y.13
-
81
-
-
0034306681
-
Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: The low copy repeats that flank the Williams-Beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion(s)
-
(2000)
Genomics
, vol.69
, pp. 1-13
-
-
Valero, M.C.1
De Luis, O.2
Cruces, J.3
Perez Jurado, L.A.4
-
90
-
-
0026352831
-
TAL2, a helix-loop-helix gene activated by the (7:9)(q34;q32) translocation in human T-cell leukemia
-
(1991)
Proc Nat Acad Sci USA
, vol.88
, pp. 11416-11420
-
-
Xia, Y.1
Brown, L.2
Yang, C.Y.-C.3
Tsan, J.T.4
Siciliano, M.J.5
Espinosa III, R.6
Le Beau, M.M.7
Baer, R.J.8
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