-
1
-
-
31144449320
-
DNA sequence and analysis of human chromosome 8
-
Nusbaum C, Mikkelsen TS, Zody MC et al: DNA sequence and analysis of human chromosome 8. Nature 2006; 439: 331-335.
-
(2006)
Nature
, vol.439
, pp. 331-335
-
-
Nusbaum, C.1
Mikkelsen, T.S.2
Zody, M.C.3
-
2
-
-
0142217951
-
Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: A mosaic formed by a meiotic error at the 8p or gene and an independent terminal deletion event
-
Vermeesch JR, Thoelen R, Salden I, Raes M, Matthijs G, Fryns JP: Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion event. J Med Genet 2003; 40: e93.
-
(2003)
J Med Genet
, vol.40
-
-
Vermeesch, J.R.1
Thoelen, R.2
Salden, I.3
Raes, M.4
Matthijs, G.5
Fryns, J.P.6
-
3
-
-
34247599683
-
Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2
-
Giorda R, Ciccone R, Gimelli G et al: Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2. Hum Mutat 2007; 28: 459-468.
-
(2007)
Hum Mutat
, vol.28
, pp. 459-468
-
-
Giorda, R.1
Ciccone, R.2
Gimelli, G.3
-
4
-
-
55549113578
-
Defensins and the dynamic genome: What we can learn from structural variation at human chromosome band 8p23.1
-
Hollox EJ, Barber JC, Brookes AJ, Armour JA: Defensins and the dynamic genome: what we can learn from structural variation at human chromosome band 8p23.1. Genome Res 2008; 18: 1686-1697.
-
(2008)
Genome Res
, vol.18
, pp. 1686-1697
-
-
Hollox, E.J.1
Barber, J.C.2
Brookes, A.J.3
Armour, J.A.4
-
5
-
-
43049109486
-
Molecular cytogenetic characterization of a unique and complex de novo 8p rearrangement
-
Cooke SL, Northup JK, Champaige NL et al: Molecular cytogenetic characterization of a unique and complex de novo 8p rearrangement. Am J Med Genet A 2008; 146A: 1166-1172.
-
(2008)
Am J Med Genet A
, vol.146 A
, pp. 1166-1172
-
-
Cooke, S.L.1
Northup, J.K.2
Champaige, N.L.3
-
6
-
-
21644454003
-
Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia
-
Shimokawa O, Miyake N, Yoshimura T et al: Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia. Am J Med Genet A 2005; 136: 49-51.
-
(2005)
Am J Med Genet A
, Issue.136
, pp. 49-51
-
-
Shimokawa, O.1
Miyake, N.2
Yoshimura, T.3
-
7
-
-
37249022274
-
8p23.1 duplication syndrome; A novel genomic condition with unexpected complexity revealed by array CGH
-
Barber JC, Maloney VK, Huang S et al: 8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH. Eur J Hum Genet 2008; 16: 18-27.
-
(2008)
Eur J Hum Genet
, vol.16
, pp. 18-27
-
-
Barber, J.C.1
Maloney, V.K.2
Huang, S.3
-
8
-
-
0035071955
-
Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements
-
Giglio S, Broman KW, Matsumoto N et al: Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements. Am J Hum Genet 2001; 68: 874-883.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 874-883
-
-
Giglio, S.1
Broman, K.W.2
Matsumoto, N.3
-
9
-
-
0033365295
-
Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1
-
Devriendt K, Matthijs G, Van Dael R et al: Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1. Am J Hum Genet 1999; 64: 1119-1126.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1119-1126
-
-
Devriendt, K.1
Matthijs, G.2
Van Dael, R.3
-
10
-
-
4444327111
-
Molecular characterization of inv dup del(8p): Analysis of five cases
-
Shimokawa O, Kurosawa K, Ida T et al: Molecular characterization of inv dup del(8p): analysis of five cases. Am J Med Genet A 2004; 128A: 133-137.
-
(2004)
Am J Med Genet A
, vol.128 A
, pp. 133-137
-
-
Shimokawa, O.1
Kurosawa, K.2
Ida, T.3
-
11
-
-
0033941916
-
Cloning, sequencing, and analysis of inv8 chromosome breakpoints associated with recombinant 8 syndrome
-
Graw SL, Sample T, Bleskan J, Sujansky E, Patterson D: Cloning, sequencing, and analysis of inv8 chromosome breakpoints associated with recombinant 8 syndrome. Am J Hum Genet 2000; 66: 1138-1144.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1138-1144
-
-
Graw, S.L.1
Sample, T.2
Bleskan, J.3
Sujansky, E.4
Patterson, D.5
-
12
-
-
0017043575
-
Lubs HA: Duplication-deficiency of the short arm of chromosome 8 following artificial insemination
-
Weleber RG, Verma RS, Kimberling WJ, Fieger Jr HG, lubs HA: Duplication-deficiency of the short arm of chromosome 8 following artificial insemination. Ann Genet 1976; 19: 241-247.
-
(1976)
Ann Genet
, vol.19
, pp. 241-247
-
-
Weleber, R.G.1
Verma, R.S.2
Kimberling, W.J.3
Fieger Jr., H.G.4
-
13
-
-
58149122719
-
Unusual 8p inverted duplication deletion with telomere capture from 8q
-
Buysse K, Antonacci F, Callewaert B et al: Unusual 8p inverted duplication deletion with telomere capture from 8q. Eur J Med Genet 2009; 52: 31-36.
-
(2009)
Eur J Med Genet
, vol.52
, pp. 31-36
-
-
Buysse, K.1
Antonacci, F.2
Callewaert, B.3
-
14
-
-
19144369894
-
The same molecular mechanism at the maternal meiosis i produces mono-and dicentric 8p duplications
-
Floridia G, Piantanida M, Minelli A et al: The same molecular mechanism at the maternal meiosis I produces mono-and dicentric 8p duplications. Am J Hum Genet 1996; 58: 785-796.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 785-796
-
-
Floridia, G.1
Piantanida, M.2
Minelli, A.3
-
15
-
-
1542579983
-
The application of region-specific probes for the resolution of duplication 8p: A case report and a review of the literature
-
Pabst B, Arslan-Kirchner M, Schmidtke J, Miller K: The application of region-specific probes for the resolution of duplication 8p: a case report and a review of the literature. Cytogenet Genome Res 2003; 103: 3-7.
-
(2003)
Cytogenet Genome Res
, vol.103
, pp. 3-7
-
-
Pabst, B.1
Arslan-Kirchner, M.2
Schmidtke, J.3
Miller, K.4
-
16
-
-
0023257421
-
Inverted tandem duplication generates a duplication deficiency of chromosome 8p
-
Dill FJ, Schertzer M, Sandercock J, Tischler B, Wood S: Inverted tandem duplication generates a duplication deficiency of chromosome 8p. Clin Genet 1987; 32: 109-113.
-
(1987)
Clin Genet
, vol.32
, pp. 109-113
-
-
Dill, F.J.1
Schertzer, M.2
Sandercock, J.3
Tischler, B.4
Wood, S.5
-
17
-
-
0028297940
-
Protelomeric sequences are deleted in cases of short arm inverted duplication of chromosome 8
-
Barber JC, James RS, Patch C, Temple IK: Protelomeric sequences are deleted in cases of short arm inverted duplication of chromosome 8. Am J Med Genet 1994; 50: 296-299.
-
(1994)
Am J Med Genet
, vol.50
, pp. 296-299
-
-
Barber, J.C.1
James, R.S.2
Patch, C.3
Temple, I.K.4
-
18
-
-
0027428375
-
D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p)
-
Minelli A, Floridia G, Rossi E et al: D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p). Hum Genet 1993; 92: 391-396.
-
(1993)
Hum Genet
, vol.92
, pp. 391-396
-
-
Minelli, A.1
Floridia, G.2
Rossi, E.3
-
19
-
-
0029087828
-
Clinical and cytogenetic findings in seven cases of inverted duplication of 8p with evidence of a telomeric deletion using fluorescence in situ hybridization
-
Guo WJ, Callif-Daley F, Zapata MC, Miller ME: Clinical and cytogenetic findings in seven cases of inverted duplication of 8p with evidence of a telomeric deletion using fluorescence in situ hybridization. Am J Med Genet 1995; 58: 230-236.
-
(1995)
Am J Med Genet
, vol.58
, pp. 230-236
-
-
Guo, W.J.1
Callif-Daley, F.2
Zapata, M.C.3
Miller, M.E.4
-
20
-
-
0028829783
-
Inversion duplication of the short arm of chromosome 8: Clinical data on seven patients and review of the literature
-
De Die-Smulders CE, Engelen JJ, Schrander-Stumpel CT et al: Inversion duplication of the short arm of chromosome 8: clinical data on seven patients and review of the literature. Am J Med Genet 1995; 59: 369-374.
-
(1995)
Am J Med Genet
, vol.59
, pp. 369-374
-
-
De Die-Smulders, C.E.1
Engelen, J.J.2
Schrander-Stumpel, C.T.3
-
22
-
-
3042598877
-
Mosaicism for an ectopic NOR at 8pter and a complex rearrangement of chromosome 8 in a patient with severe psychomotor retardation
-
Felbor U, Knotgen N, Schams G, Buwe A, Steinlein C, Schmid M: Mosaicism for an ectopic NOR at 8pter and a complex rearrangement of chromosome 8 in a patient with severe psychomotor retardation. Cytogenet Genome Res 2004; 106: 55-60.
-
(2004)
Cytogenet Genome Res
, vol.106
, pp. 55-60
-
-
Felbor, U.1
Knotgen, N.2
Schams, G.3
Buwe, A.4
Steinlein, C.5
Schmid, M.6
-
23
-
-
66549096195
-
Inverted duplications deletions: Under-diagnosed rearrangements?
-
Zuffardi O, Bonaglia M, Ciccone R, Giorda R: Inverted duplications deletions: under-diagnosed rearrangements? Clin Genet 2009; 75: 505-513.
-
(2009)
Clin Genet
, vol.75
, pp. 505-513
-
-
Zuffardi, O.1
Bonaglia, M.2
Ciccone, R.3
Giorda, R.4
-
24
-
-
70349656642
-
U-type exchange is the most frequent mechanism for inverted duplication with terminal deletion rearrangements
-
Rowe LR, Lee JY, Rector L et al: U-type exchange is the most frequent mechanism for inverted duplication with terminal deletion rearrangements. J Med Genet 2009; 46: 694-702.
-
(2009)
J Med Genet
, vol.46
, pp. 694-702
-
-
Rowe, L.R.1
Lee, J.Y.2
Rector, L.3
-
25
-
-
55949114508
-
On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: Genotype-phenotype correlation analysis of 80 patients and literature review
-
Zollino M, Murdolo M, Marangi G et al: On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review. Am J Med Genet C Semin Med Genet 2008; 148C: 257-269.
-
(2008)
Am J Med Genet C Semin Med Genet
, vol.148 C
, pp. 257-269
-
-
Zollino, M.1
Murdolo, M.2
Marangi, G.3
-
26
-
-
33750420948
-
Prenatal diagnosis of de novo unbalanced transloca-tion 8p;21q using subtelomeric probes
-
Ozkinay F, Kanit H, Onay H et al: Prenatal diagnosis of de novo unbalanced transloca-tion 8p;21q using subtelomeric probes. Genet Couns 2006; 17: 315-320.
-
(2006)
Genet Couns
, vol.17
, pp. 315-320
-
-
Ozkinay, F.1
Kanit, H.2
Onay, H.3
-
27
-
-
27644520395
-
Small supernumerary marker chromosomes-progress towards a genotype-phenotype correlation
-
Liehr T, Mrasek K, Weise A et al: Small supernumerary marker chromosomes-progress towards a genotype-phenotype correlation. Cytogenet Genome Res 2006; 112: 23-34.
-
(2006)
Cytogenet Genome Res
, vol.112
, pp. 23-34
-
-
Liehr, T.1
Mrasek, K.2
Weise, A.3
-
28
-
-
33748558056
-
A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon
-
Fellermann K, Stange DE, Schaeffeler E et al: A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon. Am J Hum Genet 2006; 79: 439-448.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 439-448
-
-
Fellermann, K.1
Stange, D.E.2
Schaeffeler, E.3
-
29
-
-
68949177123
-
Copy number variations associated with idiopathic autism identified by whole-genome microarray-based comparative genomic hybridization
-
Cho SC, Yim SH, Yoo HK et al: Copy number variations associated with idiopathic autism identified by whole-genome microarray-based comparative genomic hybridization. Psychiatr Genet 2009; 19: 177-185.
-
(2009)
Psychiatr Genet
, vol.19
, pp. 177-185
-
-
Cho, S.C.1
Yim, S.H.2
Yoo, H.K.3
-
30
-
-
37549033125
-
Psoriasis is associated with increased beta-defensin genomic copy number
-
Hollox EJ, Huffmeier U, Zeeuwen PL et al: Psoriasis is associated with increased beta-defensin genomic copy number. Nat Genet 2008; 40: 23-25.
-
(2008)
Nat Genet
, vol.40
, pp. 23-25
-
-
Hollox, E.J.1
Huffmeier, U.2
Zeeuwen, P.L.3
-
31
-
-
69849085073
-
Validation of the Agilent 244K oligonucleotide array-based comparative genomic hybridization platform for clinical cytogenetic diagnosis
-
Yu S, Bittel DC, Kibiryeva N, Zwick DL, Cooley LD: Validation of the Agilent 244K oligonucleotide array-based comparative genomic hybridization platform for clinical cytogenetic diagnosis. Am J Clin Pathol 2009; 132: 349-360.
-
(2009)
Am J Clin Pathol
, vol.132
, pp. 349-360
-
-
Yu, S.1
Bittel, D.C.2
Kibiryeva, N.3
Zwick, D.L.4
Cooley, L.D.5
-
32
-
-
75649134266
-
Quantitative real-time polymerase chain reaction for the verification of genomic imbalances detected by microarray-based comparative genomic hybridization
-
Yu S, Kielt M, Stegner AL, Kibiryeva N, Bittel DC, Cooley LD: Quantitative real-time polymerase chain reaction for the verification of genomic imbalances detected by microarray-based comparative genomic hybridization. Genet Test Mol Biomarkers 2009; 13: 751-760.
-
(2009)
Genet Test Mol Biomarkers
, vol.13
, pp. 751-760
-
-
Yu, S.1
Kielt, M.2
Stegner, A.L.3
Kibiryeva, N.4
Bittel, D.C.5
Cooley, L.D.6
-
33
-
-
51249083916
-
The array CGH and its clinical applications
-
Shinawi M, Cheung SW: The array CGH and its clinical applications. Drug Discov Today 2008; 13: 760-770.
-
(2008)
Drug Discov Today
, vol.13
, pp. 760-770
-
-
Shinawi, M.1
Cheung, S.W.2
-
34
-
-
33745963779
-
Inversion polymorphisms and non-contiguous terminal deletions: The cause and the (unpredicted) effect of our genome architecture
-
Ciccone R, Mattina T, Giorda R et al: Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture. J Med Genet 2006; 43: e19.
-
(2006)
J Med Genet
, vol.43
-
-
Ciccone, R.1
Mattina, T.2
Giorda, R.3
-
35
-
-
1542373558
-
Monosomy 1p36 breakpoints indicate repetitive DNA sequence elements may be involved in generating and/or stabilizing some terminal deletions
-
Ballif BC, Gajecka M, Shaffer LG: Monosomy 1p36 breakpoints indicate repetitive DNA sequence elements may be involved in generating and/or stabilizing some terminal deletions. Chromosome Res 2004; 12: 133-141.
-
(2004)
Chromosome Res
, vol.12
, pp. 133-141
-
-
Ballif, B.C.1
Gajecka, M.2
Shaffer, L.G.3
-
36
-
-
1042269551
-
Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements
-
Ballif BC, Wakui K, Gajecka M, Shaffer LG: Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements. Hum Genet 2004; 114: 198-206.
-
(2004)
Hum Genet
, vol.114
, pp. 198-206
-
-
Ballif, B.C.1
Wakui, K.2
Gajecka, M.3
Shaffer, L.G.4
-
37
-
-
34247216070
-
Molecular characterisation of a mosaicism with a complex chromosome rearrangement: Evidence for coincident chromosome healing by telomere capture and neo-telomere formation
-
Chabchoub E, Rodriguez L, Galan E et al: Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation. J Med Genet 2007; 44: 250-256.
-
(2007)
J Med Genet
, vol.44
, pp. 250-256
-
-
Chabchoub, E.1
Rodriguez, L.2
Galan, E.3
-
38
-
-
34247639066
-
Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion
-
Knijnenburg J, van Haeringen A, Hansson KB et al: Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion. Eur J Hum Genet 2007; 15: 548-555.
-
(2007)
Eur J Hum Genet
, vol.15
, pp. 548-555
-
-
Knijnenburg, J.1
Van Haeringen, A.2
Hansson, K.B.3
-
39
-
-
0036988394
-
Stabilization of a terminal inversion duplication of 8p by telomere capture from 18q
-
Kostiner DR, Nguyen H, Cox VA, Cotter PD: Stabilization of a terminal inversion duplication of 8p by telomere capture from 18q. Cytogenet Genome Res 2002; 98: 9-12.
-
(2002)
Cytogenet Genome Res
, vol.98
, pp. 9-12
-
-
Kostiner, D.R.1
Nguyen, H.2
Cox, V.A.3
Cotter, P.D.4
-
40
-
-
0035889325
-
Inherited duplication, dup (8) (p23.1p23.1) pat, in a father and daughter with congenital heart defects
-
Kennedy SJ, Teebi AS, Adatia I, Teshima I: Inherited duplication, dup (8) (p23.1p23.1) pat, in a father and daughter with congenital heart defects. Am J Med Genet 2001; 104: 79-80.
-
(2001)
Am J Med Genet
, vol.104
, pp. 79-80
-
-
Kennedy, S.J.1
Teebi, A.S.2
Adatia, I.3
Teshima, I.4
-
41
-
-
0036795904
-
8p23 duplication reconsideredis it a true euchromatic variant with no clinical manifestation?
-
Tsai CH, Graw SL, McGavran L: 8p23 duplication reconsidered: is it a true euchromatic variant with no clinical manifestation? J Med Genet 2002; 39: 769-774.
-
(2002)
J Med Genet
, vol.39
, pp. 769-774
-
-
Tsai, C.H.1
Graw, S.L.2
McGavran, L.3
-
42
-
-
27144474963
-
Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level
-
Barber JC, Maloney V, Hollox EJ et al: Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level. Eur J Hum Genet 2005; 13: 1131-1136.
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 1131-1136
-
-
Barber, J.C.1
Maloney, V.2
Hollox, E.J.3
-
43
-
-
24944579579
-
Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1
-
Slavotinek A, Lee SS, Davis R et al: Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1. J Med Genet 2005; 42: 730-736.
-
(2005)
J Med Genet
, vol.42
, pp. 730-736
-
-
Slavotinek, A.1
Lee, S.S.2
Davis, R.3
-
44
-
-
0029552859
-
Terminal deletion in chromosome region 8p23.1-8pter in a child with features of velo-cardio-facial syndrome
-
Devriendt K, De Mars K, De Cock P, Gewillig M, Fryns JP: Terminal deletion in chromosome region 8p23.1-8pter in a child with features of velo-cardio-facial syndrome. Ann Genet 1995; 38: 228-230.
-
(1995)
Ann Genet
, vol.38
, pp. 228-230
-
-
Devriendt, K.1
De Mars, K.2
De Cock, P.3
Gewillig, M.4
Fryns, J.P.5
-
45
-
-
17344370150
-
Duplication of 8p23.1: A cytogenetic anomaly with no established clinical significance
-
Barber JC, Joyce CA, Collinson MN et al: Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance. J Med Genet 1998; 35: 491-496.
-
(1998)
J Med Genet
, vol.35
, pp. 491-496
-
-
Barber, J.C.1
Joyce, C.A.2
Collinson, M.N.3
-
46
-
-
0034089182
-
Duplication of chromosome region 8p23.1-p23.3 a benign variant?
-
Engelen JJ, Moog U, Evers JL, Dassen H, Albrechts JC, Hamers AJ: Duplication of chromosome region 8p23.1-p23.3: a benign variant? Am J Med Genet 2000; 91: 18-21.
-
(2000)
Am J Med Genet
, vol.91
, pp. 18-21
-
-
Engelen, J.J.1
Moog, U.2
Evers, J.L.3
Dassen, H.4
Albrechts, J.C.5
Hamers, A.J.6
-
47
-
-
57749094931
-
Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties
-
Glancy M, Barnicoat A, Vijeratnam R et al: Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties. Eur J Hum Genet 2009; 17: 37-43.
-
(2009)
Eur J Hum Genet
, vol.17
, pp. 37-43
-
-
Glancy, M.1
Barnicoat, A.2
Vijeratnam, R.3
-
48
-
-
41149106868
-
Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project
-
Higgins AW, Alkuraya FS, Bosco AF et al: Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. Am J Hum Genet 2008; 82: 712-722.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 712-722
-
-
Higgins, A.W.1
Alkuraya, F.S.2
Bosco, A.F.3
-
49
-
-
67349088574
-
Clinical and molecular characterization of two patients with a 6.75 Mb overlapping deletion in 8p12p21 with two candidate loci for congenital heart defects
-
Willemsen MH, de Leeuw N, Pfundt R, de Vries BB, Kleefstra T: Clinical and molecular characterization of two patients with a 6.75 Mb overlapping deletion in 8p12p21 with two candidate loci for congenital heart defects. Eur J Med Genet 2009; 52: 134-139.
-
(2009)
Eur J Med Genet
, vol.52
, pp. 134-139
-
-
Willemsen, M.H.1
De Leeuw, N.2
Pfundt, R.3
De Vries, B.B.4
Kleefstra, T.5
-
50
-
-
33645575044
-
A novel 8Mb interstitial deletion of chromosome 8p12-p21.2
-
Klopocki E, Fiebig B, Robinson P et al: A novel 8Mb interstitial deletion of chromosome 8p12-p21.2. Am J Med Genet A 2006; 140: 873-877.
-
(2006)
Am J Med Genet A
, vol.140
, pp. 873-877
-
-
Klopocki, E.1
Fiebig, B.2
Robinson, P.3
-
51
-
-
37849027249
-
Molecular cytogenetic and clinical findings in a patient with a small supernumerary r(8) mosaicism
-
Bettio D, Baldwin EL, Carrozzo R et al: Molecular cytogenetic and clinical findings in a patient with a small supernumerary r(8) mosaicism. Am J Med Genet A 2008; 146A: 247-250.
-
(2008)
Am J Med Genet A
, vol.146 A
, pp. 247-250
-
-
Bettio, D.1
Baldwin, E.L.2
Carrozzo, R.3
-
52
-
-
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
-
53
-
-
33947220222
-
Structural variation in the human genome
-
Lupski JR: Structural variation in the human genome. N Engl J Med 2007; 356: 1169-1171.
-
(2007)
N Engl J Med
, vol.356
, pp. 1169-1171
-
-
Lupski, J.R.1
-
54
-
-
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
-
55
-
-
51849167741
-
Small deletion variants have stable breakpoints commonly associated with alu elements
-
De Smith AJ, Walters RG, Coin LJ et al: Small deletion variants have stable breakpoints commonly associated with alu elements. PLoS One 2008; 3: e3104.
-
(2008)
PLoS One
, vol.3
-
-
De Smith, A.J.1
Walters, R.G.2
Coin, L.J.3
-
56
-
-
59249105978
-
A microhomology-mediated break-induced replication model for the origin of human copy number variation
-
Hastings PJ, Ira G, Lupski JR: A microhomology-mediated break-induced replication model for the origin of human copy number variation. PLoS Genet 2009; 5: e1000327.
-
(2009)
PLoS Genet
, vol.5
-
-
Hastings, P.J.1
Ira, G.2
Lupski, J.R.3
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