-
1
-
-
2542482661
-
Delineation of complex chromosomal rearrangements: Evidence for increased complexity
-
Astbury C, Christ LA, Aughton DJ, Cassidy SB, Fujimoto A, Pletcher BA, Schafer IA, Schwartz S: Delineation of complex chromosomal rearrangements: evidence for increased complexity. Hum Genet 114:448-457 (2004).
-
(2004)
Hum Genet
, vol.114
, pp. 448-457
-
-
Astbury, C.1
Christ, L.A.2
Aughton, D.J.3
Cassidy, S.B.4
Fujimoto, A.5
Pletcher, B.A.6
Schafer, I.A.7
Schwartz, S.8
-
2
-
-
0031864888
-
De novo apparently balanced complex chromosome rearrangement (CCR) involving chromosome 4, 18, and 21 in a girl with mental retardation: Report and review
-
Batanian JR, Eswara MS: De novo apparently balanced complex chromosome rearrangement (CCR) involving chromosome 4, 18, and 21 in a girl with mental retardation: report and review. Am J Med Genet 78:44-51 (1998).
-
(1998)
Am J Med Genet
, vol.78
, pp. 44-51
-
-
Batanian, J.R.1
Eswara, M.S.2
-
3
-
-
27944474013
-
Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a approximately 0.5-Mb submicroscopic deletion in a patient with mild mental retardation
-
Borg K, Stankiewicz P, Bocian E, Kruczek A, Obersztyn E, Lupski JR, Mazurczak T: Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a approximately 0.5-Mb submicroscopic deletion in a patient with mild mental retardation. Hum Genet 118:267-275 (2005).
-
(2005)
Hum Genet
, vol.118
, pp. 267-275
-
-
Borg, K.1
Stankiewicz, P.2
Bocian, E.3
Kruczek, A.4
Obersztyn, E.5
Lupski, J.R.6
Mazurczak, T.7
-
4
-
-
0037262322
-
Missense mutations in the DNA-binding region and termination codon in PAX6
-
Chao LY, Mishra R, Strong LC, Saunders GF: Missense mutations in the DNA-binding region and termination codon in PAX6. Hum Mutat 21:138-145 (2003).
-
(2003)
Hum Mutat
, vol.21
, pp. 138-145
-
-
Chao, L.Y.1
Mishra, R.2
Strong, L.C.3
Saunders, G.F.4
-
5
-
-
0036844718
-
Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia
-
Crolla JA, van Heyningen V: Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia. Am J Hum Genet 71:1138-1149 (2002).
-
(2002)
Am J Hum Genet
, vol.71
, pp. 1138-1149
-
-
Crolla, J.A.1
Van Heyningen, V.2
-
6
-
-
0031035967
-
A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus
-
Crolla JA, Cawdery JE, Oley CA, Young ID, Gray J, Fantes J, van Heyningen V: A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus. J Med Genet 34:207-212 (1997).
-
(1997)
J Med Genet
, vol.34
, pp. 207-212
-
-
Crolla, J.A.1
Cawdery, J.E.2
Oley, C.A.3
Young, I.D.4
Gray, J.5
Fantes, J.6
Van Heyningen, V.7
-
7
-
-
0028930258
-
A high-resolution integrated physical, cytogenetic, and genetic map of human chromosome 11: Distal p13 to proximal p15.1
-
Fantes J, Oghene K, Boyle S, Danes S, Fletcher JM, Bruford EA, Williamson K, Seawright A, Scheld A, Hanson I, Zehetner G, Bhogal R, Lehrach H, Gregory S, Williams J, Little PFR, Sellar GC, Hoovers J, Mannens M, Weissenbach J, Junien C, van Heyningen V, Bickmore WI: A high-resolution integrated physical, cytogenetic, and genetic map of human chromosome 11: distal p13 to proximal p15.1. Genomics 25:447-461 (1995a).
-
(1995)
Genomics
, vol.25
, pp. 447-461
-
-
Fantes, J.1
Oghene, K.2
Boyle, S.3
Danes, S.4
Fletcher, J.M.5
Bruford, E.A.6
Williamson, K.7
Seawright, A.8
Scheld, A.9
Hanson, I.10
Zehetner, G.11
Bhogal, R.12
Lehrach, H.13
Gregory, S.14
Williams, J.15
Little, P.F.R.16
Sellar, G.C.17
Hoovers, J.18
Mannens, M.19
Weissenbach, J.20
Junien, C.21
Van Heyningen, V.22
Bickmore, W.I.23
more..
-
8
-
-
0028907724
-
Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype
-
Fantes J, Redeker B, Breen M, Boyle S, Brown J, Fletcher J, Jones S, Bickmore W, Fukushima Y, Mannens M, Danes S, van Heyningen V, Hanson I: Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype. Hum Mol Genet 4:415-422 (1995b).
-
(1995)
Hum Mol Genet
, vol.4
, pp. 415-422
-
-
Fantes, J.1
Redeker, B.2
Breen, M.3
Boyle, S.4
Brown, J.5
Fletcher, J.6
Jones, S.7
Bickmore, W.8
Fukushima, Y.9
Mannens, M.10
Danes, S.11
Van Heyningen, V.12
Hanson, I.13
-
9
-
-
0027298980
-
Detection of a cryptic paracentric inversion within band 11p13 in familial aniridia by fluorescence in situ hybridization
-
Fukushima Y, Hoovers J, Mannens M, Wakui K, Ohashi H, Ohno T, Ueoka Y, Niikawa N: Detection of a cryptic paracentric inversion within band 11p13 in familial aniridia by fluorescence in situ hybridization. Hum Genet 91:205-209 (1993).
-
(1993)
Hum Genet
, vol.91
, pp. 205-209
-
-
Fukushima, Y.1
Hoovers, J.2
Mannens, M.3
Wakui, K.4
Ohashi, H.5
Ohno, T.6
Ueoka, Y.7
Niikawa, N.8
-
10
-
-
19944432367
-
The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes
-
Gribble SM, Prigmore E, Burford DC, Porter KM, Ng BL, Douglas EJ, Fiegler F, Carr P, Kalaitzopoulos D, Clegg S, Sandstrom R, Temple IK, Youings SA, Thomas NS, Dennis NR, Jacobs PA, Crolla JA, Carter N: The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes. J Med Genet 42:8-16 (2005).
-
(2005)
J Med Genet
, vol.42
, pp. 8-16
-
-
Gribble, S.M.1
Prigmore, E.2
Burford, D.C.3
Porter, K.M.4
Ng, B.L.5
Douglas, E.J.6
Fiegler, F.7
Carr, P.8
Kalaitzopoulos, D.9
Clegg, S.10
Sandstrom, R.11
Temple, I.K.12
Youings, S.A.13
Thomas, N.S.14
Dennis, N.R.15
Jacobs, P.A.16
Crolla, J.A.17
Carter, N.18
-
11
-
-
0042823383
-
Ten years follow up of a boy with a complex chromosomal rearrangement: Going from a >5 to 15-breakpoint CCR
-
Houge G, Liehr T, Schoumans J, Ness GO, Solland K, Starke H, Claussen U, Stromme P, Akre B, Vermeulen S: Ten years follow up of a boy with a complex chromosomal rearrangement: going from a >5 to 15-breakpoint CCR. Am J Med Genet 118A:235-240 (2003).
-
(2003)
Am J Med Genet
, vol.118 A
, pp. 235-240
-
-
Houge, G.1
Liehr, T.2
Schoumans, J.3
Ness, G.O.4
Solland, K.5
Starke, H.6
Claussen, U.7
Stromme, P.8
Akre, B.9
Vermeulen, S.10
-
13
-
-
11144339384
-
Long-range control of gene expression: Emerging mechanisms and disruption in disease
-
Kleinjan DA, van Heyningen V: Long-range control of gene expression: emerging mechanisms and disruption in disease. Am J Hum Genet 76:8-32 (2005).
-
(2005)
Am J Hum Genet
, vol.76
, pp. 8-32
-
-
Kleinjan, D.A.1
Van Heyningen, V.2
-
14
-
-
0023180029
-
Complex chromosome rearrangements and congenital anomalies
-
Kousseff BG, Nichols P, Essig YP, Miller K, Weiss A, Tedesco T: Complex chromosome rearrangements and congenital anomalies. Am J Med Genet 26:771-782 (1987).
-
(1987)
Am J Med Genet
, vol.26
, pp. 771-782
-
-
Kousseff, B.G.1
Nichols, P.2
Essig, Y.P.3
Miller, K.4
Weiss, A.5
Tedesco, T.6
-
15
-
-
0034610337
-
3′ Deletions cause aniridia by preventing PAX6 gene expression
-
USA
-
Lauderdale JD, Wilensky JS, Oliver ER, Walton DS, Glaser T: 3′ deletions cause aniridia by preventing PAX6 gene expression. Proc Natl Acad Sci USA 97:13755-13759 (2000).
-
(2000)
Proc Natl Acad Sci
, vol.97
, pp. 13755-13759
-
-
Lauderdale, J.D.1
Wilensky, J.S.2
Oliver, E.R.3
Walton, D.S.4
Glaser, T.5
-
16
-
-
4344715840
-
De novo complex chromosome rearrangements (CCR) involving chromosome 1,5, and 6 resulting in microdeletion for 6q14 in a female carrier with a psychotic disorder
-
Lespinasse J, Bugge M, Réthoré MO, North MO, Ludsteen C, Kirchhoff M: De novo complex chromosome rearrangements (CCR) involving chromosome 1,5, and 6 resulting in microdeletion for 6q14 in a female carrier with a psychotic disorder. Am J Med Genet 128A:199-203 (2004).
-
(2004)
Am J Med Genet
, vol.128 A
, pp. 199-203
-
-
Lespinasse, J.1
Bugge, M.2
Réthoré, M.O.3
North, M.O.4
Ludsteen, C.5
Kirchhoff, M.6
-
17
-
-
0034517427
-
FISH studies in a girl with sporadic aniridia and an apparently balanced de novo t(11;13) (p13;q33) translocation detect a microdeletion involving the WAGR region
-
Llerena JC, Cabral de Almeida JC, Bastos E, Crolla JA: FISH studies in a girl with sporadic aniridia and an apparently balanced de novo t(11;13) (p13;q33) translocation detect a microdeletion involving the WAGR region. Genet Mol Biol 23:535-539 (2000).
-
(2000)
Genet Mol Biol
, vol.23
, pp. 535-539
-
-
Llerena, J.C.1
Cabral De Almeida, J.C.2
Bastos, E.3
Crolla, J.A.4
-
18
-
-
16044371402
-
A complete set of human telomeric probes and their clinical application
-
National Institutes of Health and Institute of Molecular Medicine Collaboration: A complete set of human telomeric probes and their clinical application. Nat Genet 14:86-89 (1996).
-
(1996)
Nat Genet
, vol.14
, pp. 86-89
-
-
-
19
-
-
0942298746
-
Molecular cytogenetic analysis of complex chromosomal rearrangements in patients with mental retardation and congenital malformations: Delineation of 7q21.11 breakpoints
-
Vermeulen S, Menten B, Van Roy N, Van Limbergen H, De Paepe A, Mortier G, Speleman F: Molecular cytogenetic analysis of complex chromosomal rearrangements in patients with mental retardation and congenital malformations: delineation of 7q21.11 breakpoints. Am J Med Genet 124A:10-18 (2004).
-
(2004)
Am J Med Genet
, vol.124 A
, pp. 10-18
-
-
Vermeulen, S.1
Menten, B.2
Van Roy, N.3
Van Limbergen, H.4
De Paepe, A.5
Mortier, G.6
Speleman, F.7
-
20
-
-
0026528277
-
De novo complex chromosome rearrangement in identical twins with multiple congenital anomalies
-
Wakita Y, Narahara K, Tsuji K, Yokoyama Y, Ninomiya S, Murakami R, Kikkawa K, Seino Y: De novo complex chromosome rearrangement in identical twins with multiple congenital anomalies. Hum Genet 88:596-598 (1992).
-
(1992)
Hum Genet
, vol.88
, pp. 596-598
-
-
Wakita, Y.1
Narahara, K.2
Tsuji, K.3
Yokoyama, Y.4
Ninomiya, S.5
Murakami, R.6
Kikkawa, K.7
Seino, Y.8
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