-
1
-
-
0033361765
-
Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints
-
Amos-Landgraf JM, Ji Y, Gottlieb W, Depinet T, Wandstrat AE, Cassidy SB, Driscoll DJ, Rogan PK, Schwartz S, Nicholls RD. Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints. Am J Hum Genet 1999;65:370-386.
-
(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
-
3
-
-
34547850413
-
Role of sperm FISH studies in the genetic reproductive advice of structural reorganization carriers
-
Anton E, Vidal F, Blanco J. Role of sperm FISH studies in the genetic reproductive advice of structural reorganization carriers. Hum Reprod 2007;22:2088-2092.
-
(2007)
Hum Reprod
, vol.22
, pp. 2088-2092
-
-
Anton, E.1
Vidal, F.2
Blanco, J.3
-
4
-
-
31544471424
-
Sperm aneuploidy in fathers of Klinefelter's syndrome offspring assessed by multicolour fluorescent in situ hybridization using probes for chromosomes 6, 13, 18, 21, 22, X and Y
-
Arnedo N, Templado C, Sanchez-Blanque Y, Rajmil O, Nogues C. Sperm aneuploidy in fathers of Klinefelter's syndrome offspring assessed by multicolour fluorescent in situ hybridization using probes for chromosomes 6, 13, 18, 21, 22, X and Y. Hum Reprod 2006; 21:524-528.
-
(2006)
Hum Reprod
, vol.21
, pp. 524-528
-
-
Arnedo, N.1
Templado, C.2
Sanchez-Blanque, Y.3
Rajmil, O.4
Nogues, C.5
-
5
-
-
0031945026
-
High level of unequal meiotic crossovers at the origin of the 22q11.2 and 7q11. 23 deletions
-
Baumer A, Dutly F, Balmer D, Riegel M, Tukel T, Krajewska-Walasek M, Schinzel AA. High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions. Hum Mol Genet 1998;7:887-894.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 887-894
-
-
Baumer, A.1
Dutly, F.2
Balmer, D.3
Riegel, M.4
Tukel, T.5
Krajewska-Walasek, M.6
Schinzel, A.A.7
-
6
-
-
0029985631
-
Incidence of chromosome 21 disomy in human spermatozoa as determined by fluorescent in-situ hybridization
-
Blanco J, Egozcue J, Vidal F. Incidence of chromosome 21 disomy in human spermatozoa as determined by fluorescent in-situ hybridization. Hum Reprod 1996;11:722-726.
-
(1996)
Hum Reprod
, vol.11
, pp. 722-726
-
-
Blanco, J.1
Egozcue, J.2
Vidal, F.3
-
7
-
-
0032231320
-
Chromosome 21 disomy in the spermatozoa of the fathers of children with trisomy 21, in a population with a high prevalence of Down syndrome: increased incidence in cases of paternal origin
-
Blanco J, Gabau E, Gomez D, Baena N, Guitart M, Egozcue J, Vidal F. Chromosome 21 disomy in the spermatozoa of the fathers of children with trisomy 21, in a population with a high prevalence of Down syndrome: increased incidence in cases of paternal origin. Am J Hum Genet 1998;63:1067-1072.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1067-1072
-
-
Blanco, J.1
Gabau, E.2
Gomez, D.3
Baena, N.4
Guitart, M.5
Egozcue, J.6
Vidal, F.7
-
8
-
-
41849099288
-
Array comparative genomic hybridization (aCGH) analysis in Prader-Willi syndrome
-
Butler MG, Fischer W, Kibiryeva N, Bittel DC. Array comparative genomic hybridization (aCGH) analysis in Prader-Willi syndrome. Am J Med Genet A 2008;146:854-860.
-
(2008)
Am J Med Genet A
, vol.146
, pp. 854-860
-
-
Butler, M.G.1
Fischer, W.2
Kibiryeva, N.3
Bittel, D.C.4
-
9
-
-
0033651946
-
Prader-Willi and Angelman syndromes: sister imprinted disorders
-
Cassidy SB, Dykens E, Williams CA. Prader-Willi and Angelman syndromes: sister imprinted disorders. Am J Med Genet 2000; 97:136-146.
-
(2000)
Am J Med Genet
, vol.97
, pp. 136-146
-
-
Cassidy, S.B.1
Dykens, E.2
Williams, C.A.3
-
10
-
-
0032971379
-
Large genomic duplicons map to sites of instability in the Prader-Willi/ Angelman syndrome chromosome region (15q11-q13)
-
Christian SL, Fantes JA, Mewborn SK, Huang B, Ledbetter DH. Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13). Hum Mol Genet 1999;8:1025-1037.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1025-1037
-
-
Christian, S.L.1
Fantes, J.A.2
Mewborn, S.K.3
Huang, B.4
Ledbetter, D.H.5
-
11
-
-
43049100493
-
Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion
-
Cusco I, Corominas R, Bayes M, Flores R, Rivera-Brugues N, Campuzano V, Perez-Jurado LA. Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion. Genome Res 2008;18:683-694.
-
(2008)
Genome Res
, vol.18
, pp. 683-694
-
-
Cusco, I.1
Corominas, R.2
Bayes, M.3
Flores, R.4
Rivera-Brugues, N.5
Campuzano, V.6
Perez-Jurado, L.A.7
-
12
-
-
33644861103
-
Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13
-
Dennis NR, Veltman MW, Thompson R, Craig E, Bolton PF, Thomas NS. Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13. Am J Med Genet A 2006;140:434-441.
-
(2006)
Am J Med Genet A
, vol.140
, pp. 434-441
-
-
Dennis, N.R.1
Veltman, M.W.2
Thompson, R.3
Craig, E.4
Bolton, P.F.5
Thomas, N.S.6
-
13
-
-
0031181612
-
Detection of chromosomes and estimation of aneuploidy in human spermatozoa using fluorescence in-situ hybridization
-
Downie SE, Flaherty SP, Matthews CD. Detection of chromosomes and estimation of aneuploidy in human spermatozoa using fluorescence in-situ hybridization. Mol Hum Reprod 1997;3:585-598.
-
(1997)
Mol Hum Reprod
, vol.3
, pp. 585-598
-
-
Downie, S.E.1
Flaherty, S.P.2
Matthews, C.D.3
-
14
-
-
0031410184
-
Chromosome studies in human sperm nuclei using fluorescence in-situ hybridization (FISH)
-
Egozcue J, Blanco J, Vidal F. Chromosome studies in human sperm nuclei using fluorescence in-situ hybridization (FISH). Hum Reprod Update 1997;3:441-452.
-
(1997)
Hum Reprod Update
, vol.3
, pp. 441-452
-
-
Egozcue, J.1
Blanco, J.2
Vidal, F.3
-
15
-
-
0035487212
-
Segmental duplications: an 'expanding' role in genomic instability and disease
-
Emanuel BS, Shaikh TH. Segmental duplications: an 'expanding' role in genomic instability and disease. Nat Rev Genet 2001;2:791-800.
-
(2001)
Nat Rev Genet
, vol.2
, pp. 791-800
-
-
Emanuel, B.S.1
Shaikh, T.H.2
-
16
-
-
0034599981
-
Homologous and non-homologous recombination differentially affect DNA damage repair in mice
-
Essers J, van Steeg H, de Wit J, Swagemakers SM, Vermeij M, Hoeijmakers JH, Kanaar R. Homologous and non-homologous recombination differentially affect DNA damage repair in mice. Embo J 2000;19:1703-1710.
-
(2000)
Embo J
, vol.19
, pp. 1703-1710
-
-
Essers, J.1
van Steeg, H.2
de Wit, J.3
Swagemakers, S.M.4
Vermeij, M.5
Hoeijmakers, J.H.6
Kanaar, R.7
-
19
-
-
0037447443
-
Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions
-
Gimelli G, Pujana MA, Patricelli MG, Russo S, Giardino D, Larizza L, Cheung J, Armengol L, Schinzel A, Estivill X et al. Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions. Hum Mol Genet 2003;12:849-858.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 849-858
-
-
Gimelli, G.1
Pujana, M.A.2
Patricelli, M.G.3
Russo, S.4
Giardino, D.5
Larizza, L.6
Cheung, J.7
Armengol, L.8
Schinzel, A.9
Estivill, X.10
-
20
-
-
0026042457
-
Somatic recombination rather than uniparental disomy suggested as another mechanism by which genetic imprinting may play a role in the etiology of Prader-Willi syndrome
-
Gregory CA, Schwartz J, Kirkilionis AJ, Rudd N, Hamerton JL. Somatic recombination rather than uniparental disomy suggested as another mechanism by which genetic imprinting may play a role in the etiology of Prader-Willi syndrome. Hum Genet 1991;88:42-48.
-
(1991)
Hum Genet
, vol.88
, pp. 42-48
-
-
Gregory, C.A.1
Schwartz, J.2
Kirkilionis, A.J.3
Rudd, N.4
Hamerton, J.L.5
-
21
-
-
62549134411
-
Mechanisms for human genomic rearrangements
-
Gu W, Zhang F, Lupski JR. Mechanisms for human genomic rearrangements. Pathogenetics 2008;1:4.
-
(2008)
Pathogenetics
, vol.1
, pp. 4
-
-
Gu, W.1
Zhang, F.2
Lupski, J.R.3
-
23
-
-
0034028921
-
Structure of chromosomal duplicons and their role in mediating human genomic disorders
-
Ji Y, Eichler EE, Schwartz S, Nicholls RD. Structure of chromosomal duplicons and their role in mediating human genomic disorders. Genome Res 2000a;10:597-610.
-
(2000)
Genome Res
, vol.10
, pp. 597-610
-
-
Ji, Y.1
Eichler, E.E.2
Schwartz, S.3
Nicholls, R.D.4
-
24
-
-
0343362695
-
Structure of the highly conserved HERC2 gene and of multiple partially duplicated paralogs in human
-
Ji Y, Rebert NA, Joslin JM, Higgins MJ, Schultz RA, Nicholls RD. Structure of the highly conserved HERC2 gene and of multiple partially duplicated paralogs in human. Genome Res 2000b;10:319-329.
-
(2000)
Genome Res
, vol.10
, pp. 319-329
-
-
Ji, Y.1
Rebert, N.A.2
Joslin, J.M.3
Higgins, M.J.4
Schultz, R.A.5
Nicholls, R.D.6
-
25
-
-
51849158675
-
Complex and segmental uniparental disomy updated
-
Kotzot D. Complex and segmental uniparental disomy updated. J Med Genet 2008;45:545-556.
-
(2008)
J Med Genet
, vol.45
, pp. 545-556
-
-
Kotzot, D.1
-
26
-
-
0034012083
-
Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications
-
Kotzot D, Martinez MJ, Bagci G, Basaran S, Baumer A, Binkert F, Brecevic L, Castellan C, Chrzanowska K, Dutly F et al. Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications. J Med Genet 2000;37:281-286.
-
(2000)
J Med Genet
, vol.37
, pp. 281-286
-
-
Kotzot, D.1
Martinez, M.J.2
Bagci, G.3
Basaran, S.4
Baumer, A.5
Binkert, F.6
Brecevic, L.7
Castellan, C.8
Chrzanowska, K.9
Dutly, F.10
-
27
-
-
45949087559
-
Spermiogenesis DNA repair: a possible etiology of human infertility and genetic disorders
-
Leduc F, Nkoma GB, Boissonneault G. Spermiogenesis and DNA repair: a possible etiology of human infertility and genetic disorders. Syst Biol Reprod Med 2008;54:3-10.
-
(2008)
Syst Biol Reprod Med
, vol.54
, pp. 3-10
-
-
Leduc, F.1
Nkoma, G.B.2
Boissonneault, G.3
-
28
-
-
0031731487
-
Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits
-
Lupski JR. Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet 1998; 14:417-422.
-
(1998)
Trends Genet
, vol.14
, pp. 417-422
-
-
Lupski, J.R.1
-
29
-
-
39549087017
-
Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes
-
Makoff AJ, Flomen RH. Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes. Genome Biol 2007;8:R114.
-
(2007)
Genome Biol
, vol.8
-
-
Makoff, A.J.1
Flomen, R.H.2
-
31
-
-
18844463311
-
Analysis of sex chromosome aneuploidy in sperm from fathers of Turner syndrome patients
-
Martinez-Pasarell O, Nogues C, Bosch M, Egozcue J, Templado C. Analysis of sex chromosome aneuploidy in sperm from fathers of Turner syndrome patients. Hum Genet 1999;104:345-349.
-
(1999)
Hum Genet
, vol.104
, pp. 345-349
-
-
Martinez-Pasarell, O.1
Nogues, C.2
Bosch, M.3
Egozcue, J.4
Templado, C.5
-
32
-
-
2442696542
-
Segmental maternal heterodisomy of the proximal part of chromosome 15 in an infant with Prader-Willi syndrome
-
Nazarenko S, Sazhenova E, Baumer A, Schinzel A. Segmental maternal heterodisomy of the proximal part of chromosome 15 in an infant with Prader-Willi syndrome. Eur J Hum Genet 2004;12:411-414.
-
(2004)
Eur J Hum Genet
, vol.12
, pp. 411-414
-
-
Nazarenko, S.1
Sazhenova, E.2
Baumer, A.3
Schinzel, A.4
-
33
-
-
0035179436
-
A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome
-
Osborne LR, Li M, Pober B, Chitayat D, Bodurtha J, Mandel A, Costa T, Grebe T, Cox S, Tsui LC et al. A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. Nat Genet 2001;29:321-325.
-
(2001)
Nat Genet
, vol.29
, pp. 321-325
-
-
Osborne, L.R.1
Li, M.2
Pober, B.3
Chitayat, D.4
Bodurtha, J.5
Mandel, A.6
Costa, T.7
Grebe, T.8
Cox, S.9
Tsui, L.C.10
-
34
-
-
34547665404
-
Recurrence risk in de novo structural chromosomal rearrangements
-
Rothlisberger B, Kotzot D. Recurrence risk in de novo structural chromosomal rearrangements. Am J Med Genet A 2007;143A: 1708-1714.
-
(2007)
Am J Med Genet A
, vol.143 A
, pp. 1708-1714
-
-
Rothlisberger, B.1
Kotzot, D.2
-
35
-
-
46949101344
-
Complex rearrangements of chromosome 15 in two patients with mild/atypical Prader Willi syndrome
-
Salavoura K, Kolialexi A, Sofocleous C, Kalaitzidaki M, Pampanos A, Kitsiou S, Mavrou A. Complex rearrangements of chromosome 15 in two patients with mild/atypical Prader Willi syndrome. Genet Couns 2008;19:219-224.
-
(2008)
Genet Couns
, vol.19
, pp. 219-224
-
-
Salavoura, K.1
Kolialexi, A.2
Sofocleous, C.3
Kalaitzidaki, M.4
Pampanos, A.5
Kitsiou, S.6
Mavrou, A.7
-
36
-
-
77949918555
-
Role of sperm fluorescent in situ hybridization studies in infertile patients: indications, study approach, and clinical relevance
-
doi:10.1016/j.fertnstert.2008.12.139
-
Sarrate Z, Vidal F, Blanco J. Role of sperm fluorescent in situ hybridization studies in infertile patients: indications, study approach, and clinical relevance. Fertil Steril 2009; doi:10.1016/j.fertnstert.2008.12.139.
-
(2009)
Fertil Steril
, pp. 139
-
-
Sarrate, Z.1
Vidal, F.2
Blanco, J.3
-
37
-
-
33748333194
-
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome
-
Sharp AJ, Hansen S, Selzer RR, Cheng Z, Regan R, Hurst JA, Stewart H, Price SM, Blair E, Hennekam RC et al. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet 2006;38:1038-1042.
-
(2006)
Nat Genet
, vol.38
, pp. 1038-1042
-
-
Sharp, A.J.1
Hansen, S.2
Selzer, R.R.3
Cheng, Z.4
Regan, R.5
Hurst, J.A.6
Stewart, H.7
Price, S.M.8
Blair, E.9
Hennekam, R.C.10
-
38
-
-
34047114932
-
Characterization of a recurrent 15q24 microdeletion syndrome
-
Sharp AJ, Selzer RR, Veltman JA, Gimelli S, Gimelli G, Striano P, Coppola A, Regan R, Price SM, Knoers NV et al. Characterization of a recurrent 15q24 microdeletion syndrome. Hum Mol Genet 2007; 16:567-572.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 567-572
-
-
Sharp, A.J.1
Selzer, R.R.2
Veltman, J.A.3
Gimelli, S.4
Gimelli, G.5
Striano, P.6
Coppola, A.7
Regan, R.8
Price, S.M.9
Knoers, N.V.10
-
39
-
-
33846291046
-
Homologous recombination-mediated double- strand break repair in mouse testicular extracts and comparison with different germ cell stages
-
Srivastava N, Raman MJ. Homologous recombination-mediated double- strand break repair in mouse testicular extracts and comparison with different germ cell stages. Cell Biochem Funct 2007;25:75-86.
-
(2007)
Cell Biochem Funct
, vol.25
, pp. 75-86
-
-
Srivastava, N.1
Raman, M.J.2
-
40
-
-
0036468807
-
Genome architecture, rearrangements and genomic disorders
-
Stankiewicz P, Lupski JR. Genome architecture, rearrangements and genomic disorders. Trends Genet 2002;18:74-82.
-
(2002)
Trends Genet
, vol.18
, pp. 74-82
-
-
Stankiewicz, P.1
Lupski, J.R.2
-
41
-
-
0035136724
-
Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14
-
Ungaro P, Christian SL, Fantes JA, Mutirangura A, Black S, Reynolds J, Malcolm S, Dobyns WB, Ledbetter DH. Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14. J Med Genet 2001;38:26-34.
-
(2001)
J Med Genet
, vol.38
, pp. 26-34
-
-
Ungaro, P.1
Christian, S.L.2
Fantes, J.A.3
Mutirangura, A.4
Black, S.5
Reynolds, J.6
Malcolm, S.7
Dobyns, W.B.8
Ledbetter, D.H.9
-
42
-
-
0027377483
-
Sephadex filtration and human serum albumin gradients do not select spermatozoa by sex chromosome: a fluorescent in-situ hybridization study
-
Vidal F, Moragas M, Catala V, Torello MJ, Santalo J, Calderon G, Gimenez C, Barri PN, Egozcue J, Veiga A. Sephadex filtration and human serum albumin gradients do not select spermatozoa by sex chromosome: a fluorescent in-situ hybridization study. Hum Reprod 1993;8:1740-1743.
-
(1993)
Hum Reprod
, vol.8
, pp. 1740-1743
-
-
Vidal, F.1
Moragas, M.2
Catala, V.3
Torello, M.J.4
Santalo, J.5
Calderon, G.6
Gimenez, C.7
Barri, P.N.8
Egozcue, J.9
Veiga, A.10
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