-
1
-
-
0141994858
-
Genomic microarrays in human genetic disease and cancer
-
Albertson DG, Pinkel D. 2003. Genomic microarrays in human genetic disease and cancer. Hum Mol Genet 12:R145-R152.
-
(2003)
Hum Mol Genet
, vol.12
-
-
Albertson, D.G.1
Pinkel, D.2
-
2
-
-
0033597384
-
No evidence for chromosomal microdeletions at the second DiGeorge syndrome locus on 10p near D10 S585
-
Bartsch O, Wagner A, Hinkel GK, Lichtner P, Murken J, Schuffenhauer S. 1999. No evidence for chromosomal microdeletions at the second DiGeorge syndrome locus on 10p near D10 S585. Am J Med Genet 83:425-426.
-
(1999)
Am J Med Genet
, vol.83
, pp. 425-426
-
-
Bartsch, O.1
Wagner, A.2
Hinkel, G.K.3
Lichtner, P.4
Murken, J.5
Schuffenhauer, S.6
-
3
-
-
0038074204
-
DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion
-
Bartsch O, Nemeckova M, Kocarek E, Wagner A, Puchmajerova A, Poppe M, Ounap K, Goetz P. 2003. DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion. Am J Med Genet Part A 117A:1-5.
-
(2003)
Am J Med Genet
, vol.117 A
, Issue.PART A
, pp. 1-5
-
-
Bartsch, O.1
Nemeckova, M.2
Kocarek, E.3
Wagner, A.4
Puchmajerova, A.5
Poppe, M.6
Ounap, K.7
Goetz, P.8
-
5
-
-
16944364251
-
Molecular definition of 22q11 deletions in 151 velo-cardiofacial syndrome patients
-
Carlson C, Sirotkin H, Pandita R, Goldberg R, McKie J, Wadey R, Patanjali SR, Weissman SM, Anyane-Yeboa K, Warburton D, Scambler P, Shprintzen R, Kucherlapati R, Morrow BE. 1997. Molecular definition of 22q11 deletions in 151 velo-cardiofacial syndrome patients. Am J Hum Genet 61:620-629.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 620-629
-
-
Carlson, C.1
Sirotkin, H.2
Pandita, R.3
Goldberg, R.4
McKie, J.5
Wadey, R.6
Patanjali, S.R.7
Weissman, S.M.8
Anyane-Yeboa, K.9
Warburton, D.10
Scambler, P.11
Shprintzen, R.12
Kucherlapati, R.13
Morrow, B.E.14
-
6
-
-
0035865257
-
-
Cheung VG, Nowak N, Jang W, Kirsch IR, Zhao S, Chen XN, Furey TS, Kim UJ, Kuo WL, Olivier M, Conroy J, Kasprzyk A, Massa H, Yonescu R, Sait S, Thoreen C, Snijders A, Lemyre E, Bailey JA, Bruzel A, Burrill WD, Clegg SM, Collins S, Dhami P, Friedman C, Han CS, Herrick S, Lee J, Ligon AH, Lowry S, Morley M, Narasimhan S, Osoegawa K, Peng Z, Plajzer-Frick I, Quade BJ, Scott D, Sirotkin K, Thorpe AA, Gray JW, Hudson J, Pinkel D, Ried T, Rowen L, Shen-Ong GL, Strausberg RL, Birney E, Callen DF, Cheng JF, Cox DR, Doggett NA, Carter NP, Eichler EE, Haussler D, Korenberg JR, Morton CC, Albertson D, Schuler G, de Jong PJ, Trask BJ. 2001. Integration of cytogenetic landmarks into the draft sequence of the human genome. Nature 409:953-958.
-
Cheung VG, Nowak N, Jang W, Kirsch IR, Zhao S, Chen XN, Furey TS, Kim UJ, Kuo WL, Olivier M, Conroy J, Kasprzyk A, Massa H, Yonescu R, Sait S, Thoreen C, Snijders A, Lemyre E, Bailey JA, Bruzel A, Burrill WD, Clegg SM, Collins S, Dhami P, Friedman C, Han CS, Herrick S, Lee J, Ligon AH, Lowry S, Morley M, Narasimhan S, Osoegawa K, Peng Z, Plajzer-Frick I, Quade BJ, Scott D, Sirotkin K, Thorpe AA, Gray JW, Hudson J, Pinkel D, Ried T, Rowen L, Shen-Ong GL, Strausberg RL, Birney E, Callen DF, Cheng JF, Cox DR, Doggett NA, Carter NP, Eichler EE, Haussler D, Korenberg JR, Morton CC, Albertson D, Schuler G, de Jong PJ, Trask BJ. 2001. Integration of cytogenetic landmarks into the draft sequence of the human genome. Nature 409:953-958.
-
-
-
-
7
-
-
15844403609
-
A common region of 10p deleted in DiGeorge and velocardiofacial syndromes
-
Daw SC, Taylor C, Kraman M, Call K, Mao J, Schuffenhauer S, Meitinger T, Lipson T, Goodship J, Scambler P. 1996. A common region of 10p deleted in DiGeorge and velocardiofacial syndromes. Nat Genet 13:458-460.
-
(1996)
Nat Genet
, vol.13
, pp. 458-460
-
-
Daw, S.C.1
Taylor, C.2
Kraman, M.3
Call, K.4
Mao, J.5
Schuffenhauer, S.6
Meitinger, T.7
Lipson, T.8
Goodship, J.9
Scambler, P.10
-
8
-
-
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. 1995. Terminal deletion in chromosome region 8p23.1-8pter in a child with features of velo-cardio-facial syndrome. Ann Genet 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
-
9
-
-
0012218859
-
Digeorge syndrome with del(4)(q21.3q25): Possibility of the fourth chromosome region responsible for Digeorge syndrome
-
Fukushima Y, Ohashi H, Wakui K, Nishida T, Nakamura Y, Hoshino K, Ogawa K, Oh-ishi T. 1992. Digeorge syndrome with del(4)(q21.3q25): Possibility of the fourth chromosome region responsible for Digeorge syndrome. Am J Hum Genet 51:A80.
-
(1992)
Am J Hum Genet
, vol.51
-
-
Fukushima, Y.1
Ohashi, H.2
Wakui, K.3
Nishida, T.4
Nakamura, Y.5
Hoshino, K.6
Ogawa, K.7
Oh-ishi, T.8
-
10
-
-
0042387792
-
Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster
-
Hollox EJ, Armour JA, Barber JC. 2003. Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster. Am J Hum Genet 73:591-600.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 591-600
-
-
Hollox, E.J.1
Armour, J.A.2
Barber, J.C.3
-
11
-
-
4444291843
-
Detection of large-scale variation in the human genome
-
Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW, Lee C. 2004. Detection of large-scale variation in the human genome. Nat Genet 36:949-951.
-
(2004)
Nat Genet
, vol.36
, pp. 949-951
-
-
Iafrate, A.J.1
Feuk, L.2
Rivera, M.N.3
Listewnik, M.L.4
Donahoe, P.K.5
Qi, Y.6
Scherer, S.W.7
Lee, C.8
-
12
-
-
10744233914
-
A tiling resolution DNA microarray with complete coverage of the human genome
-
Ishkanian AS, Malloff CA, Watson SK, DeLeeuw RJ, Chi B, Coe BP, Snijders A, Albertson DG, Pinkel D, Marra MA, Ling V, MacAulay C, Lam WL. 2004. A tiling resolution DNA microarray with complete coverage of the human genome. Nat Genet 36:299-303.
-
(2004)
Nat Genet
, vol.36
, pp. 299-303
-
-
Ishkanian, A.S.1
Malloff, C.A.2
Watson, S.K.3
DeLeeuw, R.J.4
Chi, B.5
Coe, B.P.6
Snijders, A.7
Albertson, D.G.8
Pinkel, D.9
Marra, M.A.10
Ling, V.11
MacAulay, C.12
Lam, W.L.13
-
13
-
-
0036180003
-
Fully automatic quantification of microarray image data
-
Jain AN, Tokuyasu TA, Snijders AM, Segraves R, Albertson DG, Pinkel D. 2002. Fully automatic quantification of microarray image data. Genome Res 12:325-332.
-
(2002)
Genome Res
, vol.12
, pp. 325-332
-
-
Jain, A.N.1
Tokuyasu, T.A.2
Snijders, A.M.3
Segraves, R.4
Albertson, D.G.5
Pinkel, D.6
-
14
-
-
0025938419
-
Expressed hypervariable polymorphism of apolipoprotein (a)
-
Kamboh MI, Ferrell RE, Kottke BA. 1991. Expressed hypervariable polymorphism of apolipoprotein (a). Am J Hum Genet 49:1063-1074.
-
(1991)
Am J Hum Genet
, vol.49
, pp. 1063-1074
-
-
Kamboh, M.I.1
Ferrell, R.E.2
Kottke, B.A.3
-
15
-
-
2942746722
-
Prader-Willi syndrome resulting from an unbalanced translocation: Characterization by array comparative genomic hybridization
-
Klein OD, Cotter PD, Albertson DG, Pinkel D, Tidyman WE, Moore MW, Rauen KA. 2004. Prader-Willi syndrome resulting from an unbalanced translocation: Characterization by array comparative genomic hybridization. Clin Genet 65:477-482.
-
(2004)
Clin Genet
, vol.65
, pp. 477-482
-
-
Klein, O.D.1
Cotter, P.D.2
Albertson, D.G.3
Pinkel, D.4
Tidyman, W.E.5
Moore, M.W.6
Rauen, K.A.7
-
16
-
-
0028029094
-
Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence
-
Lindgren V, Rosinsky B, Chin J, Berry-Kravis E. 1994. Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence. Am J Med Genet 49:67-73.
-
(1994)
Am J Med Genet
, vol.49
, pp. 67-73
-
-
Lindgren, V.1
Rosinsky, B.2
Chin, J.3
Berry-Kravis, E.4
-
17
-
-
0035514706
-
Chromosomal microdeletions: Dissecting del22q11 syndrome
-
Lindsay EA. 2001. Chromosomal microdeletions: Dissecting del22q11 syndrome. Nat Rev Genet 2:858-868.
-
(2001)
Nat Rev Genet
, vol.2
, pp. 858-868
-
-
Lindsay, E.A.1
-
18
-
-
0037351987
-
Large-scale variation among human and great ape genomes determined by array comparative genomic hybridization
-
Locke DP, Segraves R, Carbone L, Archidiacono N, Albertson DG, Pinkel D, Eichler EE. 2003. Large-scale variation among human and great ape genomes determined by array comparative genomic hybridization. Genome Res 13:347-357.
-
(2003)
Genome Res
, vol.13
, pp. 347-357
-
-
Locke, D.P.1
Segraves, R.2
Carbone, L.3
Archidiacono, N.4
Albertson, D.G.5
Pinkel, D.6
Eichler, E.E.7
-
19
-
-
17344371740
-
High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays
-
Pinkel D, Segraves R, Sudar D, Clark S, Poole I, Kowbel D, Collins C, Kuo WL, Chen C, Zhai Y, Dairkee SH, Ljung BM, Gray JW, Albertson DG. 1998. High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet 20:207-211.
-
(1998)
Nat Genet
, vol.20
, pp. 207-211
-
-
Pinkel, D.1
Segraves, R.2
Sudar, D.3
Clark, S.4
Poole, I.5
Kowbel, D.6
Collins, C.7
Kuo, W.L.8
Chen, C.9
Zhai, Y.10
Dairkee, S.H.11
Ljung, B.M.12
Gray, J.W.13
Albertson, D.G.14
-
20
-
-
1842607847
-
-
R Development Core Team, Vienna, Austria: R Foundation for Statistical Computing
-
R Development Core Team. 2004. R: A language and environment for statistical computing. Vienna, Austria: R Foundation for Statistical Computing. http://www.R-project.org.
-
(2004)
R: A language and environment for statistical computing
-
-
-
21
-
-
0036605189
-
Additional patient with del(12)(q21.2q22): Further evidence for a candidate region for cardio-facio-cutaneous syndrome?
-
Rauen KA, Albertson DG, Pinkel D, Cotter PD. 2002. Additional patient with del(12)(q21.2q22): Further evidence for a candidate region for cardio-facio-cutaneous syndrome? Am J Med Genet 110:51-56.
-
(2002)
Am J Med Genet
, vol.110
, pp. 51-56
-
-
Rauen, K.A.1
Albertson, D.G.2
Pinkel, D.3
Cotter, P.D.4
-
23
-
-
13144252168
-
Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2)
-
Schuffenhauer S, Lichtner P. Peykar-Derakhshandeh P, Murken J, Haas OA, Back E, Wolff G, Zabel B, Barisic I, Rauch A, Borochowitz Z, Dallapiccola B, Ross M, Meitinger T. 1998. Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2). Eur J Hum Genet 6:213-225.
-
(1998)
Eur J Hum Genet
, vol.6
, pp. 213-225
-
-
Schuffenhauer, S.1
Lichtner, P.2
Peykar-Derakhshandeh, P.3
Murken, J.4
Haas, O.A.5
Back, E.6
Wolff, G.7
Zabel, B.8
Barisic, I.9
Rauch, A.10
Borochowitz, Z.11
Dallapiccola, B.12
Ross, M.13
Meitinger, T.14
-
24
-
-
3242808027
-
Large-scale copy number polymorphism in the human genome
-
Sebat J, Lakshmi B, Troge J, Alexander J, Young J, Lundin P, Maner S, Massa H, Walker M, Chi M, Navin N, Lucito R, Healy J, Hicks J, Ye K, Reiner A, Gilliam TC, Trask B. Patterson N, Zetterberg A, Wigler M. 2004. Large-scale copy number polymorphism in the human genome. Science 305:525-528.
-
(2004)
Science
, vol.305
, pp. 525-528
-
-
Sebat, J.1
Lakshmi, B.2
Troge, J.3
Alexander, J.4
Young, J.5
Lundin, P.6
Maner, S.7
Massa, H.8
Walker, M.9
Chi, M.10
Navin, N.11
Lucito, R.12
Healy, J.13
Hicks, J.14
Ye, K.15
Reiner, A.16
Gilliam, T.C.17
Trask, B.18
Patterson, N.19
Zetterberg, A.20
Wigler, M.21
more..
-
25
-
-
0034161932
-
Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: Genomic organization and deletion endpoint analysis
-
Shaikh TH, Kurahashi H, Saitta SC, O'Hare AM, Hu P, Roe BA, Driscoll DA, McDonald-McGinn DM, Zackai EH, Budarf ML, Emanuel BS. 2000. Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: Genomic organization and deletion endpoint analysis. Hum Mol Genet 9:489-501.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 489-501
-
-
Shaikh, T.H.1
Kurahashi, H.2
Saitta, S.C.3
O'Hare, A.M.4
Hu, P.5
Roe, B.A.6
Driscoll, D.A.7
McDonald-McGinn, D.M.8
Zackai, E.H.9
Budarf, M.L.10
Emanuel, B.S.11
-
26
-
-
20544462642
-
Segmental duplications and copy-number variation in the human genome
-
Sharp AJ, Locke DP, McGrath SD, Cheng Z, Bailey JA, Vallente RU, Pertz LM, Clark RA, Schwartz S, Segraves R, Oseroff W, Albertson DG, Pinkel D, Eichler EE. 2005. Segmental duplications and copy-number variation in the human genome. Am J Hum Genet 77:78-88.
-
(2005)
Am J Hum Genet
, vol.77
, pp. 78-88
-
-
Sharp, A.J.1
Locke, D.P.2
McGrath, S.D.3
Cheng, Z.4
Bailey, J.A.5
Vallente, R.U.6
Pertz, L.M.7
Clark, R.A.8
Schwartz, S.9
Segraves, R.10
Oseroff, W.11
Albertson, D.G.12
Pinkel, D.13
Eichler, E.E.14
-
27
-
-
11144356173
-
Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/ mental retardation and dysmorphic features
-
Shaw-Smith C, Redon R, Rickman L, Rio M, Willatt L, Fiegler H, Firth H, Sanlaville D, Winter R, Colleaux L, Bobrow M, Carter NP. 2004. Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/ mental retardation and dysmorphic features. J Med Genet 41:241-248.
-
(2004)
J Med Genet
, vol.41
, pp. 241-248
-
-
Shaw-Smith, C.1
Redon, R.2
Rickman, L.3
Rio, M.4
Willatt, L.5
Fiegler, H.6
Firth, H.7
Sanlaville, D.8
Winter, R.9
Colleaux, L.10
Bobrow, M.11
Carter, N.P.12
-
28
-
-
0035179871
-
Assembly of microarrays for genomewide measurement of DNA copy number
-
Snijders AM, Nowak N, Segraves R, Blackwood S, Brown N, Conroy J, Hamilton G, Hindle AK, Huey B, Kimura K, Law S, Myambo K, Palmer J, Ylstra B, Yue JP, Gray JW, Jain AN, Pinkel D, Albertson DG. 2001. Assembly of microarrays for genomewide measurement of DNA copy number. Nat Genet 29:263-264.
-
(2001)
Nat Genet
, vol.29
, pp. 263-264
-
-
Snijders, A.M.1
Nowak, N.2
Segraves, R.3
Blackwood, S.4
Brown, N.5
Conroy, J.6
Hamilton, G.7
Hindle, A.K.8
Huey, B.9
Kimura, K.10
Law, S.11
Myambo, K.12
Palmer, J.13
Ylstra, B.14
Yue, J.P.15
Gray, J.W.16
Jain, A.N.17
Pinkel, D.18
Albertson, D.G.19
-
29
-
-
0033590681
-
Child with velocardiofacial syndrome and del (4)(q34.2): Another critical region associated with a velocardiofacial syndrome-like phenotype
-
Tsai CH, Van Dyke DL, Feldman GL. 1999. Child with velocardiofacial syndrome and del (4)(q34.2): Another critical region associated with a velocardiofacial syndrome-like phenotype. Am J Med Genet 82:336-339.
-
(1999)
Am J Med Genet
, vol.82
, pp. 336-339
-
-
Tsai, C.H.1
Van Dyke, D.L.2
Feldman, G.L.3
-
30
-
-
22844451617
-
Fine-scale structural variation of the human genome
-
Tuzun E, Sharp AJ, Bailey JA, Kaul R, Morrison VA, Pertz LM, Haugen E, Hayden H, Albertson D, Pinkel D, Olson MV, Eichler EE. 2005. Fine-scale structural variation of the human genome. Nat Genet 37:727-732.
-
(2005)
Nat Genet
, vol.37
, pp. 727-732
-
-
Tuzun, E.1
Sharp, A.J.2
Bailey, J.A.3
Kaul, R.4
Morrison, V.A.5
Pertz, L.M.6
Haugen, E.7
Hayden, H.8
Albertson, D.9
Pinkel, D.10
Olson, M.V.11
Eichler, E.E.12
-
31
-
-
19944430321
-
Construction and application of a full-coverage, high-resolution, human chromosome 8q genomic microarray for comparative genomic hybridization
-
van Duin M, van Marion R, Watson JE, Paris PL, Lapuk A, Brown N, Oseroff W, Albertson DG, Pinkel D, de Jong P, Nacheva EP, Dinjens W, van Dekken H, Collins C. 2005. Construction and application of a full-coverage, high-resolution, human chromosome 8q genomic microarray for comparative genomic hybridization. Cytometry A 63A:10-19.
-
(2005)
Cytometry A
, vol.63 A
, pp. 10-19
-
-
van Duin, M.1
van Marion, R.2
Watson, J.E.3
Paris, P.L.4
Lapuk, A.5
Brown, N.6
Oseroff, W.7
Albertson, D.G.8
Pinkel, D.9
de Jong, P.10
Nacheva, E.P.11
Dinjens, W.12
van Dekken, H.13
Collins, C.14
-
32
-
-
20044362567
-
Molecular karyotyping: Array CGH quality criteria for constitutional genetic diagnosis
-
Vermeesch JR, Melotte C, Froyen G, Van Vooren S, Dutta B, Maas N, Vermeulen S, Menten B, Speleman F, De Moor B, Van Hummelen P, Marynen P, Fryns JP, Devriendt K. 2005. Molecular karyotyping: Array CGH quality criteria for constitutional genetic diagnosis. J Histochem Cytochem 53:413-422.
-
(2005)
J Histochem Cytochem
, vol.53
, pp. 413-422
-
-
Vermeesch, J.R.1
Melotte, C.2
Froyen, G.3
Van Vooren, S.4
Dutta, B.5
Maas, N.6
Vermeulen, S.7
Menten, B.8
Speleman, F.9
De Moor, B.10
Van Hummelen, P.11
Marynen, P.12
Fryns, J.P.13
Devriendt, K.14
-
33
-
-
9144240478
-
Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities
-
Vissers LE, de Vries BB, Osoegawa K, Janssen IM, Feuth T, Choy CO, Straatman H, van der Vliet W, Huys EH, van Rijk A, Smeets D, van Ravenswaaij-Arts CM, Knoers NV, van der Burgt I, de Jong PJ, Brunner HG, van Kessel AG, Schoenmakers EF, Veltman JA. 2003. Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet 73:1261-1270.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 1261-1270
-
-
Vissers, L.E.1
de Vries, B.B.2
Osoegawa, K.3
Janssen, I.M.4
Feuth, T.5
Choy, C.O.6
Straatman, H.7
van der Vliet, W.8
Huys, E.H.9
van Rijk, A.10
Smeets, D.11
van Ravenswaaij-Arts, C.M.12
Knoers, N.V.13
van der Burgt, I.14
de Jong, P.J.15
Brunner, H.G.16
van Kessel, A.G.17
Schoenmakers, E.F.18
Veltman, J.A.19
-
34
-
-
4444239112
-
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
-
Vissers LE, van Ravenswaaij CM, Admiraal R, Hurst JA, de Vries BB, Janssen IM, van der Vliet WA, Huys EH, de Jong PJ, Hamel BC, Schoenmakers EF, Brunner HG, Veltman JA, van Kessel AG. 2004. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 36:955-957.
-
(2004)
Nat Genet
, vol.36
, pp. 955-957
-
-
Vissers, L.E.1
van Ravenswaaij, C.M.2
Admiraal, R.3
Hurst, J.A.4
de Vries, B.B.5
Janssen, I.M.6
van der Vliet, W.A.7
Huys, E.H.8
de Jong, P.J.9
Hamel, B.C.10
Schoenmakers, E.F.11
Brunner, H.G.12
Veltman, J.A.13
van Kessel, A.G.14
-
35
-
-
10744223651
-
Role of TBX1 in human del22q11.2 syndrome
-
Yagi H, Furutani Y, Hamada H, Sasaki T, Asakawa S, Minoshima S, Ichida F, Joo K, Kimura M, Imamura S, Kamatani N, Momma K, Takao A, Nakazawa M, Shimizu N, Matsuoka R. 2003. Role of TBX1 in human del22q11.2 syndrome. Lancet 362:1366-1373.
-
(2003)
Lancet
, vol.362
, pp. 1366-1373
-
-
Yagi, H.1
Furutani, Y.2
Hamada, H.3
Sasaki, T.4
Asakawa, S.5
Minoshima, S.6
Ichida, F.7
Joo, K.8
Kimura, M.9
Imamura, S.10
Kamatani, N.11
Momma, K.12
Takao, A.13
Nakazawa, M.14
Shimizu, N.15
Matsuoka, R.16
-
36
-
-
18444371140
-
Presence of large deletions in kindreds with autism
-
Yu CE, Dawson G, Munson J, D'Souza I, Osterling J, Estes A, Leutenegger AL, Flodman P, Smith M, Raskind WH, Spence MA, McMahon W, Wijsman EM, Schellenberg GD. 2002. Presence of large deletions in kindreds with autism. Am J Hum Genet 71:100-115.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 100-115
-
-
Yu, C.E.1
Dawson, G.2
Munson, J.3
D'Souza, I.4
Osterling, J.5
Estes, A.6
Leutenegger, A.L.7
Flodman, P.8
Smith, M.9
Raskind, W.H.10
Spence, M.A.11
McMahon, W.12
Wijsman, E.M.13
Schellenberg, G.D.14
-
37
-
-
19944430269
-
High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization
-
Zhang X, Snijders A, Segraves R, Niebuhr A, Albertson D, Yang H, Gray J, Niebuhr E, Bolund L, Pinkel D. 2005. High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization. Am J Hum Genet 76:312-326.
-
(2005)
Am J Hum Genet
, vol.76
, pp. 312-326
-
-
Zhang, X.1
Snijders, A.2
Segraves, R.3
Niebuhr, A.4
Albertson, D.5
Yang, H.6
Gray, J.7
Niebuhr, E.8
Bolund, L.9
Pinkel, D.10
|