-
1
-
-
4444291843
-
Detection of large-scale variation in the human genome
-
Iafrate AJ, Feuk L, Rivera MN et al: Detection of large-scale variation in the human genome. Nat Genet 2004; 36: 949-951.
-
(2004)
Nat Genet
, vol.36
, pp. 949-951
-
-
Iafrate, A.J.1
Feuk, L.2
Rivera, M.N.3
-
2
-
-
3242808027
-
Large-scale copy number polymorphism in the human genome
-
Sebat J, Lakshmi B, Troge J et al: Large-scale copy number polymorphism in the human genome. Science 2004; 305: 525-528.
-
(2004)
Science
, vol.305
, pp. 525-528
-
-
Sebat, J.1
Lakshmi, B.2
Troge, J.3
-
3
-
-
22844451617
-
Fine-scale structural variation of the human genome
-
Tuzun E, Sharp AJ, Bailey JA et al: Fine-scale structural variation of the human genome. Nat Genet 2005; 37: 727-732.
-
(2005)
Nat Genet
, vol.37
, pp. 727-732
-
-
Tuzun, E.1
Sharp, A.J.2
Bailey, J.A.3
-
4
-
-
70350221909
-
Copy number variation in human health, disease, and evolution
-
Zhang F, Gu W, Hurles ME et al: Copy number variation in human health, disease, and evolution. Annu Rev Genomics Hum Genet 2009; 10: 451-481.
-
(2009)
Annu Rev Genomics Hum Genet
, vol.10
, pp. 451-481
-
-
Zhang, F.1
Gu, W.2
Hurles, M.E.3
-
5
-
-
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
-
6
-
-
80055003130
-
Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome
-
Carvalho CM, Ramocki MB, Pehlivan D et al: Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome. Nat Genet 2011; 43: 1074-1081.
-
(2011)
Nat Genet
, vol.43
, pp. 1074-1081
-
-
Carvalho, C.M.1
Ramocki, M.B.2
Pehlivan, D.3
-
7
-
-
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
-
8
-
-
84858434210
-
CNVs: Harbingers of a rare variant revolution in psychiatric genetics
-
Malhotra D, Sebat J: CNVs: harbingers of a rare variant revolution in psychiatric genetics. Cell 2012; 148: 1223-1241.
-
(2012)
Cell
, vol.148
, pp. 1223-1241
-
-
Malhotra, D.1
Sebat, J.2
-
9
-
-
79953057217
-
Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia
-
Vacic V, McCarthy S, Malhotra D et al: Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia. Nature 2011; 471: 499-503.
-
(2011)
Nature
, vol.471
, pp. 499-503
-
-
Vacic, V.1
McCarthy, S.2
Malhotra, D.3
-
10
-
-
79952710338
-
Copy number variants in schizophrenia: Confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications
-
Levinson DF, Duan J, Oh S et al: Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications. Am J Psychiatry 2011; 168: 302-316.
-
(2011)
Am J Psychiatry
, vol.168
, pp. 302-316
-
-
Levinson, D.F.1
Duan, J.2
Oh, S.3
-
11
-
-
33750431676
-
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome
-
Bonaglia MC, Giorda R, Mani E et al: Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. J Med Genet 2006; 43: 822-828.
-
(2006)
J Med Genet
, vol.43
, pp. 822-828
-
-
Bonaglia, M.C.1
Giorda, R.2
Mani, E.3
-
12
-
-
66549096195
-
Inverted duplications deletions: Under-diagnosed rearrangements?
-
Zuffardi O, Bonaglia M, Ciccone R et al: 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
-
13
-
-
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
-
14
-
-
0035179436
-
A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome
-
Osborne LR, Li M, Pober B 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
-
15
-
-
0036071427
-
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation
-
Giglio S, Calvari V, Gregato G et al: Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. Am J Hum Genet 2002; 71: 276-285.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 276-285
-
-
Giglio, S.1
Calvari, V.2
Gregato, G.3
-
16
-
-
33745226965
-
Subtelomere FISH analysis of 11 688 cases: An evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities
-
Ravnan JB, Tepperberg JH, Papenhausen P et al: Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. J Med Genet 2006; 43: 478-489.
-
(2006)
J Med Genet
, vol.43
, pp. 478-489
-
-
Ravnan, J.B.1
Tepperberg, J.H.2
Papenhausen, P.3
-
17
-
-
0027477150
-
Physical mapping of the holoprosencephaly critical region on chromosome 7q36
-
Gurrieri F, Trask BJ, van den Engh G et al: Physical mapping of the holoprosencephaly critical region on chromosome 7q36. Nat Genet 1993; 3: 247-251.
-
(1993)
Nat Genet
, vol.3
, pp. 247-251
-
-
Gurrieri, F.1
Trask, B.J.2
Van Den Engh, G.3
-
18
-
-
0029115664
-
A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36
-
Lynch SA, Bond PM, Copp AJ et al: A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36. Nat Genet 1995; 11: 93-95.
-
(1995)
Nat Genet
, vol.11
, pp. 93-95
-
-
Lynch, S.A.1
Bond, P.M.2
Copp, A.J.3
-
20
-
-
37549060687
-
Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis
-
Bartsch O, Vlcková Z, Erdogan F et al: Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis. Cytogenet Genome Res 2007; 119: 158-164.
-
(2007)
Cytogenet Genome Res
, vol.119
, pp. 158-164
-
-
Bartsch, O.1
Vlcková, Z.2
Erdogan, F.3
-
21
-
-
70349147884
-
Severe phenotype in a girl with partial tetrasomy 7, karyotype 46, XX, trp(7)(q35q36)
-
Lehnen H, Maiwald R, Neyzen S et al: Severe phenotype in a girl with partial tetrasomy 7, karyotype 46, XX, trp(7)(q35q36). Cytogenet Genome Res 2009; 125: 248-252.
-
(2009)
Cytogenet Genome Res
, vol.125
, pp. 248-252
-
-
Lehnen, H.1
Maiwald, R.2
Neyzen, S.3
-
22
-
-
0032844818
-
Structure of the human VIPR2 gene for vasoactive intestinal peptide receptor type 2
-
Lutz EM, Shen S, Mackay M et al: Structure of the human VIPR2 gene for vasoactive intestinal peptide receptor type 2. FEBS Lett 1999; 458: 197-203.
-
(1999)
FEBS Lett
, vol.458
, pp. 197-203
-
-
Lutz, E.M.1
Shen, S.2
MacKay, M.3
-
23
-
-
79953747267
-
Origin-dependent inverted-repeat amplification: A replication-based model for generating palindromic amplicons
-
Brewer BJ, Payen C, Raghuraman MK et al: Origin-dependent inverted-repeat amplification: a replication-based model for generating palindromic amplicons. PLoS Genet 2011; 7: e1002016.
-
(2011)
PLoS Genet
, vol.7
-
-
Brewer, B.J.1
Payen, C.2
Raghuraman, M.K.3
-
24
-
-
80054915899
-
Common structural features characterize interstitial intrachromosomal Xp and 18q triplications
-
Giorda R, Beri S, Bonaglia MC et al: Common structural features characterize interstitial intrachromosomal Xp and 18q triplications. Am J Med Genet 2011; 155A: 2681-2687.
-
(2011)
Am J Med Genet
, vol.155 A
, pp. 2681-2687
-
-
Giorda, R.1
Beri, S.2
Bonaglia, M.C.3
-
26
-
-
0033590671
-
Intrachromosomal triplication of 2q11.2-q21 in a severely malformed infant: Case report and review of triplications and their possible mechanism
-
Wang J, Reddy KS, Wang E et al: Intrachromosomal triplication of 2q11.2-q21 in a severely malformed infant: case report and review of triplications and their possible mechanism. Am J Med Genet 1999; 82: 312-317.
-
(1999)
Am J Med Genet
, vol.82
, pp. 312-317
-
-
Wang, J.1
Reddy, K.S.2
Wang, E.3
-
27
-
-
0035136724
-
Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14
-
Ungaro P, Christian SL, Fantes JA et al: 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
-
28
-
-
0036523933
-
Characterisation of interstitial duplications and triplications of chromosome 15q11-q13
-
Roberts SE, Dennis NR, Browne CE et al: Characterisation of interstitial duplications and triplications of chromosome 15q11-q13. Hum Genet 2002; 110: 227-234.
-
(2002)
Hum Genet
, vol.110
, pp. 227-234
-
-
Roberts, S.E.1
Dennis, N.R.2
Browne, C.E.3
-
29
-
-
0041320721
-
Mechanism of intrachromosomal triplications 15q11-q13: A new clinical report
-
Vialard F, Mignon-Ravix C, Parain D et al: Mechanism of intrachromosomal triplications 15q11-q13: a new clinical report. Am J Med Genet 2003; 118A: 229-234.
-
(2003)
Am J Med Genet
, vol.118 A
, pp. 229-234
-
-
Vialard, F.1
Mignon-Ravix, C.2
Parain, D.3
-
30
-
-
70350626873
-
Microduplications of 16p11.2 are associated with schizophrenia
-
McCarthy SE, Makarov V, Kirov G et al: Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet 2009; 41: 1223-1227.
-
(2009)
Nat Genet
, vol.41
, pp. 1223-1227
-
-
McCarthy, S.E.1
Makarov, V.2
Kirov, G.3
-
31
-
-
18444412562
-
The VPAC(2) receptor is essential for circadian function in the mouse suprachiasmatic nuclei
-
Harmar AJ, Marston HM, Shen S et al: The VPAC(2) receptor is essential for circadian function in the mouse suprachiasmatic nuclei. Cell 2002; 109: 497-508.
-
(2002)
Cell
, vol.109
, pp. 497-508
-
-
Harmar, A.J.1
Marston, H.M.2
Shen, S.3
|