-
1
-
-
0020679232
-
Medical progress. Congenital malformations: Etiologic factors and their role in prevention (first of two parts)
-
Kalter H, Warkany J. Medical progress. Congenital malformations: etiologic factors and their role in prevention (first of two parts). N Engl J Med 1983;308:424-31.
-
(1983)
N Engl J Med
, vol.308
, pp. 424-431
-
-
Kalter, H.1
Warkany, J.2
-
2
-
-
0020702232
-
Congenital malformations (second of two parts)
-
Kalter H, Warkany J. Congenital malformations (second of two parts). N Engl J Med 1983;308:491-7.
-
(1983)
N Engl J Med
, vol.308
, pp. 491-497
-
-
Kalter, H.1
Warkany, J.2
-
4
-
-
0024533230
-
Malformations due to presumed spontaneous mutations in newborn infants
-
Nelson K, Holmes LB. Malformations due to presumed spontaneous mutations in newborn infants. N Engl J Med 1989;320:19-23.
-
(1989)
N Engl J Med
, vol.320
, pp. 19-23
-
-
Nelson, K.1
Holmes, L.B.2
-
5
-
-
0003406652
-
The genetic basis of human anomalies
-
Stevenson RE, Hall JG, Goodman RM, eds. New York: Oxford University Press
-
Stevenson RE. The genetic basis of human anomalies. In: Stevenson RE, Hall JG, Goodman RM, eds. Human malformations and related anomalies, Vol 1. New York: Oxford University Press, 1993:115-36.
-
(1993)
Human Malformations and Related Anomalies
, vol.1
, pp. 115-136
-
-
Stevenson, R.E.1
-
6
-
-
0002361240
-
Causes of congenital anomalies: An overview and historical perspective
-
Stevenson RE, Hall JG, Goodman RM, eds. New York: Oxford University Press
-
Stevenson RE. Causes of congenital anomalies: an overview and historical perspective. In: Stevenson RE, Hall JG, Goodman RM, eds. Human malformations and related anomalies, Vol 1. New York: Oxford University Press, 1993:3-20.
-
(1993)
Human Malformations and Related Anomalies
, vol.1
, pp. 3-20
-
-
Stevenson, R.E.1
-
7
-
-
0036467131
-
The end of the beginning of chromosome ends
-
Biesecker LG. The end of the beginning of chromosome ends. Am J Med Genet 2002;107:263-6.
-
(2002)
Am J Med Genet
, vol.107
, pp. 263-266
-
-
Biesecker, L.G.1
-
8
-
-
0033552424
-
Subtle chromosomal rearrangements in children with unexplained mental retardation
-
Knight SJ, Regan R, Nicod A, Horsley SW, Kearney L, Homfray T, Winter RM, Bolton P, Flint J. Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet 1999;354:1676-81.
-
(1999)
Lancet
, vol.354
, pp. 1676-1681
-
-
Knight, S.J.1
Regan, R.2
Nicod, A.3
Horsley, S.W.4
Kearney, L.5
Homfray, T.6
Winter, R.M.7
Bolton, P.8
Flint, J.9
-
9
-
-
0033851883
-
An optimized set of human telomere clones for studying telomere integrity and architecture
-
Knight SJ, Lese CM, Precht KS, Kuc J, Ning Y, Lucas S, Regan R, Brenan M, Nicod A, Lawrie NM, Cardy DL, Nguyen H, Hudson TJ, Riethman HC, Ledbetter DH, Flint J. An optimized set of human telomere clones for studying telomere integrity and architecture. Am J Hum Genet 2000;67:320-32.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 320-332
-
-
Knight, S.J.1
Lese, C.M.2
Precht, K.S.3
Kuc, J.4
Ning, Y.5
Lucas, S.6
Regan, R.7
Brenan, M.8
Nicod, A.9
Lawrie, N.M.10
Cardy, D.L.11
Nguyen, H.12
Hudson, T.J.13
Riethman, H.C.14
Ledbetter, D.H.15
Flint, J.16
-
11
-
-
0032901062
-
Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres
-
Slavotinek A, Rosenberg M, Knight S, Gaunt L, Fergusson W, Killoran C, Clayton-Smith J, Kingston H, Campbell RH, Flint J, Donnai D, Biesecker L. Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres. J Med Genet 1999;36:405-11.
-
(1999)
J Med Genet
, vol.36
, pp. 405-411
-
-
Slavotinek, A.1
Rosenberg, M.2
Knight, S.3
Gaunt, L.4
Fergusson, W.5
Killoran, C.6
Clayton-Smith, J.7
Kingston, H.8
Campbell, R.H.9
Flint, J.10
Donnai, D.11
Biesecker, L.12
-
12
-
-
0033912695
-
Detection of chromosomal aberrations by a whole-genome microsatellite screen
-
Rosenberg MJ, Vaske D, Killoran CE, Ning Y, Wargowski D, Hudgins L, Tifft CJ, Meck J, Blancato JK, Rosenbaum K, Pauli RM, Weber J, Biesecker LG. Detection of chromosomal aberrations by a whole-genome microsatellite screen. Am J Hum Genet 2000;66:419-27.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 419-427
-
-
Rosenberg, M.J.1
Vaske, D.2
Killoran, C.E.3
Ning, Y.4
Wargowski, D.5
Hudgins, L.6
Tifft, C.J.7
Meck, J.8
Blancato, J.K.9
Rosenbaum, K.10
Pauli, R.M.11
Weber, J.12
Biesecker, L.G.13
-
13
-
-
0034754559
-
High resolution comparative genomic hybridisation in clinical cytogenetics
-
Kirchhoff M, Rose H, Lundsteen C. High resolution comparative genomic hybridisation in clinical cytogenetics. J Med Genet 2001;38:740-4.
-
(2001)
J Med Genet
, vol.38
, pp. 740-744
-
-
Kirchhoff, M.1
Rose, H.2
Lundsteen, C.3
-
14
-
-
0037159479
-
Usefulness of high-resolution comparative genomic hybridization (CGH) for detecting and characterizing constitutional chromosome abnormalities
-
Ness GO, Lybaek H, Houge G. Usefulness of high-resolution comparative genomic hybridization (CGH) for detecting and characterizing constitutional chromosome abnormalities. Am J Med Genet 2002;113:125-36.
-
(2002)
Am J Med Genet
, vol.113
, pp. 125-136
-
-
Ness, G.O.1
Lybaek, H.2
Houge, G.3
-
15
-
-
0034805155
-
Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations
-
Rosenberg MJ, Killoran C, Dziadzio L, Chang S, Stone DL, Meck J, Aughton D, Bird LM, Bodurtha J, Cassidy SB, Graham JM Jr, Grix A, Guttmacher AE, Hudgins L, Kozma C, Michaelis RC, Pauli R, Peters KF, Rosenbaum KN, Tifft CJ, Wargowski D, Williams MS, Biesecker LG. Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations. Hum Genef 2001;109:311-8.
-
(2001)
Hum Genef
, vol.109
, pp. 311-318
-
-
Rosenberg, M.J.1
Killoran, C.2
Dziadzio, L.3
Chang, S.4
Stone, D.L.5
Meck, J.6
Aughton, D.7
Bird, L.M.8
Bodurtha, J.9
Cassidy, S.B.10
Graham Jr., J.M.11
Grix, A.12
Guttmacher, A.E.13
Hudgins, L.14
Kozma, C.15
Michaelis, R.C.16
Pauli, R.17
Peters, K.F.18
Rosenbaum, K.N.19
Tifft, C.J.20
Wargowski, D.21
Williams, M.S.22
Biesecker, L.G.23
more..
-
16
-
-
0026495364
-
Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors
-
Kallioniemi A, Kallioniemi OP, Sudar D, Rutovitz D, Gray JW, Waldman F, Pinkel D. Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science 1992;258:818-21.
-
(1992)
Science
, vol.258
, pp. 818-821
-
-
Kallioniemi, A.1
Kallioniemi, O.P.2
Sudar, D.3
Rutovitz, D.4
Gray, J.W.5
Waldman, F.6
Pinkel, D.7
-
17
-
-
0030701970
-
Matrix-based comparative genomic hybridization: Biochips to screen for genomic imbalances
-
Solinas-Toldo S, Lampel S, Stilgenbauer S, Nickolenko J, Benner A, Dohner H, Cremer T, Lichter P. Matrix-based comparative genomic hybridization: biochips to screen for genomic imbalances. Genes Chromosomes Cancer 1997;20:399-407.
-
(1997)
Genes Chromosomes Cancer
, vol.20
, pp. 399-407
-
-
Solinas-Toldo, S.1
Lampel, S.2
Stilgenbauer, S.3
Nickolenko, J.4
Benner, A.5
Dohner, H.6
Cremer, T.7
Lichter, P.8
-
18
-
-
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. High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet 1998;20:207-11.
-
(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
-
19
-
-
0035179871
-
Assembly of microarrays for genome-wide 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. Assembly of microarrays for genome-wide measurement of DNA copy number. Nat Genef 2001;29:263-4.
-
(2001)
Nat Genef
, 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
-
20
-
-
0034129516
-
Quantitative mapping of amplicon structure by array CGH identifies CYP24 as a candidate oncogene
-
Albertson DG, Ylstra B, Segraves R, Collins C, Dairkee SH, Kowbel D, Kuo WL, Gray JW, Pinkel D. Quantitative mapping of amplicon structure by array CGH identifies CYP24 as a candidate oncogene. Nat Genet 2000;25:144-6.
-
(2000)
Nat Genet
, vol.25
, pp. 144-146
-
-
Albertson, D.G.1
Ylstra, B.2
Segraves, R.3
Collins, C.4
Dairkee, S.H.5
Kowbel, D.6
Kuo, W.L.7
Gray, J.W.8
Pinkel, D.9
-
21
-
-
0035252636
-
High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH
-
Bruder CE, Hirvela C, Tapia-Paez I, Fransson I, Segraves R, Hamilton G, Zhang XX, Evans DG, Wallace AJ, Baser ME, Zucman-Rossi J, Hergersberg M, Boltshauser E, Papi L, Rouleau GA, Poptodorov G, Jordanova A, Rask-Andersen H, Kluwe L, Mautner V, Sainio M, Hung G, Mathiesen T, Moller C, Pulst SM, Harder H, Heiberg A, Honda M, Niimura M, Sahlen S, Blennow E, Albertson DG, Pinkel D, Dumanski JP. High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH. Hum Mol Genet 2001;10:271-82.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 271-282
-
-
Bruder, C.E.1
Hirvela, C.2
Tapia-Paez, I.3
Fransson, I.4
Segraves, R.5
Hamilton, G.6
Zhang, X.X.7
Evans, D.G.8
Wallace, A.J.9
Baser, M.E.10
Zucman-Rossi, J.11
Hergersberg, M.12
Boltshauser, E.13
Papi, L.14
Rouleau, G.A.15
Poptodorov, G.16
Jordanova, A.17
Rask-Andersen, H.18
Kluwe, L.19
Mautner, V.20
Sainio, M.21
Hung, G.22
Mathiesen, T.23
Moller, C.24
Pulst, S.M.25
Harder, H.26
Heiberg, A.27
Honda, M.28
Niimura, M.29
Sahlen, S.30
Blennow, E.31
Albertson, D.G.32
Pinkel, D.33
Dumanski, J.P.34
more..
-
22
-
-
18144445946
-
A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications
-
Buckley PG, Mantripragada KK, Benetkiewicz M, Tapia-Paez I, Diaz De Stahl T, Rosenquist M, Ali H, Jarbo C, De Bustos C, Hirvela C, Sinder Wilen B, Fransson I, Thyr C, Johnsson BI, Bruder CE, Menzel U, Hergersberg M, Mandahl N, Blennow E, Wedell A, Beare DM, Collins JE, Dunham I, Albertson D, Pinkel D, Bastian BC, Faruqi AF, Lasken RS, Ichimura K, Collins VP, Dumanski JP. A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications. Hum Mol Genet 2002;11:3221-9.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 3221-3229
-
-
Buckley, P.G.1
Mantripragada, K.K.2
Benetkiewicz, M.3
Tapia-Paez, I.4
Diaz De Stahl, T.5
Rosenquist, M.6
Ali, H.7
Jarbo, C.8
De Bustos, C.9
Hirvela, C.10
Sinder Wilen, B.11
Fransson, I.12
Thyr, C.13
Johnsson, B.I.14
Bruder, C.E.15
Menzel, U.16
Hergersberg, M.17
Mandahl, N.18
Blennow, E.19
Wedell, A.20
Beare, D.M.21
Collins, J.E.22
Dunham, I.23
Albertson, D.24
Pinkel, D.25
Bastian, B.C.26
Faruqi, A.F.27
Lasken, R.S.28
Ichimura, K.29
Collins, V.P.30
Dumanski, J.P.31
more..
-
23
-
-
0036173663
-
Array-based comparative genomic hybridization for the differential diagnosis of renal cell cancer
-
Wilhelm M, Veltman JA, Olshen AB, Jain AN, Moore DH, Presti JC Jr, Kovacs G, Waldman FM. Array-based comparative genomic hybridization for the differential diagnosis of renal cell cancer. Cancer Res 2002;62:957-60.
-
(2002)
Cancer Res
, vol.62
, pp. 957-960
-
-
Wilhelm, M.1
Veltman, J.A.2
Olshen, A.B.3
Jain, A.N.4
Moore, D.H.5
Presti Jr., J.C.6
Kovacs, G.7
Waldman, F.M.8
-
24
-
-
0037905690
-
Array-based comparative genomic hybridization for genome-wide screening of DNA copy number in bladder tumors
-
Veltman JA, Fridlyand J, Pejavar S, Olshen AB, Korkola JE, DeVries S, Carroll P, Kuo WL, Pinkel D, Albertson D, Cordon-Cardo C, Jain AN, Waldman FM. Array-based comparative genomic hybridization for genome-wide screening of DNA copy number in bladder tumors. Cancer Res 2003;63:2872-80.
-
(2003)
Cancer Res
, vol.63
, pp. 2872-2880
-
-
Veltman, J.A.1
Fridlyand, J.2
Pejavar, S.3
Olshen, A.B.4
Korkola, J.E.5
DeVries, S.6
Carroll, P.7
Kuo, W.L.8
Pinkel, D.9
Albertson, D.10
Cordon-Cardo, C.11
Jain, A.N.12
Waldman, F.M.13
-
25
-
-
10744221541
-
Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions
-
Yu W, Ballif BC, Kashork CD, Heilstedt HA, Howard LA, Cai WW, White LD, Liu W, Beaudet AL, Bejjani BA, Shaw CA, Shaffer LG. Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions. Hum Mol Genet 2003;12:2145-52.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 2145-2152
-
-
Yu, W.1
Ballif, B.C.2
Kashork, C.D.3
Heilstedt, H.A.4
Howard, L.A.5
Cai, W.W.6
White, L.D.7
Liu, W.8
Beaudet, A.L.9
Bejjani, B.A.10
Shaw, C.A.11
Shaffer, L.G.12
-
26
-
-
1542721515
-
BAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplications
-
Locke DP, Segraves R, Nicholls RD, Schwartz S, Pinkel D, Albertson DG, Eichler EE. BAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplications. J Med Genet 2004;41:175-82.
-
(2004)
J Med Genet
, vol.41
, pp. 175-182
-
-
Locke, D.P.1
Segraves, R.2
Nicholls, R.D.3
Schwartz, S.4
Pinkel, D.5
Albertson, D.G.6
Eichler, E.E.7
-
27
-
-
18344379676
-
High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization
-
Veltman JA, Schoenmakers EF, Eussen BH, Janssen I, Merkx G, van Cleef B, van Ravenswaaij CM, Brunner HG, Smeets D, van Kessel AG. High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization. Am J Hum Genet 2002;70:1269-76.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 1269-1276
-
-
Veltman, J.A.1
Schoenmakers, E.F.2
Eussen, B.H.3
Janssen, I.4
Merkx, G.5
Van Cleef, B.6
Van Ravenswaaij, C.M.7
Brunner, H.G.8
Smeets, D.9
Van Kessel, A.G.10
-
28
-
-
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. Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet 2003;73:1261-70.
-
(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
-
29
-
-
10744231004
-
Subtelomere specific microarray based comparative genomic hybridisation: A rapid detection system for cryptic rearrangements in idiopathic mental retardation
-
Harada N, Hatchwell E, Okamoto N, Tsukahara M, Kurosawa K, Kawame H, Kondoh T, Ohashi H, Tsukino R, Kondoh Y, Shimokawa O, Ida T, Nagai T, Fukushima Y, Yoshiura K, Niikawa N, Matsumoto N. Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation. J Med Genet 2004;41:130-6.
-
(2004)
J Med Genet
, vol.41
, pp. 130-136
-
-
Harada, N.1
Hatchwell, E.2
Okamoto, N.3
Tsukahara, M.4
Kurosawa, K.5
Kawame, H.6
Kondoh, T.7
Ohashi, H.8
Tsukino, R.9
Kondoh, Y.10
Shimokawa, O.11
Ida, T.12
Nagai, T.13
Fukushima, Y.14
Yoshiura, K.15
Niikawa, N.16
Matsumoto, N.17
-
30
-
-
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. 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 2004;41:241-8.
-
(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
-
31
-
-
2442666390
-
Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages
-
Schaeffer AJ, Chung J, Heretis K, Wong A, Ledbetter DH, Lese Martin C. Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages. Am J Hum Genet 2004;74:1108-74.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 1108-1174
-
-
Schaeffer, A.J.1
Chung, J.2
Heretis, K.3
Wong, A.4
Ledbetter, D.H.5
Lese Martin, C.6
-
32
-
-
0002496513
-
Purification of nucleic acids
-
Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press, appendix E.3
-
Sambrook J, Fritsch EF, Maniatis T. Purification of nucleic acids. In: Molecular cloning: a laboratory manual, 2nd ed. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press, 1989:appendix E.3.
-
(1989)
Molecular Cloning: A Laboratory Manual, 2nd Ed.
-
-
Sambrook, J.1
Fritsch, E.F.2
Maniatis, T.3
-
33
-
-
0034213622
-
Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments
-
Charbonnier F, Raux G, Wang Q, Drouot N, Cordier F, Limacher JM, Saurin JC, Puisieux A, Olschwang S, Frebourg T. Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments. Cancer Res 2000;60:2760-3.
-
(2000)
Cancer Res
, vol.60
, pp. 2760-2763
-
-
Charbonnier, F.1
Raux, G.2
Wang, Q.3
Drouot, N.4
Cordier, F.5
Limacher, J.M.6
Saurin, J.C.7
Puisieux, A.8
Olschwang, S.9
Frebourg, T.10
-
34
-
-
0035058520
-
Detection of heterozygous SMN1 deletions in SMA families using a simple fluorescent multiplex PCR method
-
Saugier-Veber P, Drouot N, Lefebvre S, Charbonnier F, Vial E, Munnich A, Frebourg T. Detection of heterozygous SMN1 deletions in SMA families using a simple fluorescent multiplex PCR method. J Med Genet 2001;38:240-3.
-
(2001)
J Med Genet
, vol.38
, pp. 240-243
-
-
Saugier-Veber, P.1
Drouot, N.2
Lefebvre, S.3
Charbonnier, F.4
Vial, E.5
Munnich, A.6
Frebourg, T.7
-
35
-
-
0036468254
-
MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer
-
Charbonnier F, Olschwang S, Wang Q, Boisson C, Martin C, Buisine MP, Puisieux A, Frebourg T. MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer. Cancer Res 2002;62:848-53.
-
(2002)
Cancer Res
, vol.62
, pp. 848-853
-
-
Charbonnier, F.1
Olschwang, S.2
Wang, Q.3
Boisson, C.4
Martin, C.5
Buisine, M.P.6
Puisieux, A.7
Frebourg, T.8
-
36
-
-
18544366528
-
PRODH mutations and hyperprolinemia in a subset of schizophrenic patients
-
Jacquet H, Raux G, Thibaut F, Hecketsweiler B, Houy E, Demilly C, Haouzir S, Allio G, Fouldrin G, Drouin V, Bou J, Petit M, Campion D, Frebourg T. PRODH mutations and hyperprolinemia in a subset of schizophrenic patients. Hum Mol Genet 2002;11:2243-9.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2243-2249
-
-
Jacquet, H.1
Raux, G.2
Thibaut, F.3
Hecketsweiler, B.4
Houy, E.5
Demilly, C.6
Haouzir, S.7
Allio, G.8
Fouldrin, G.9
Drouin, V.10
Bou, J.11
Petit, M.12
Campion, D.13
Frebourg, T.14
-
37
-
-
0348108093
-
Prenatal diagnosis of sacrococcygeal teratoma with constitutional partial monosomy 7q/trisomy 2p
-
Le Caignec C, Winer N, Boceno M, Delnatte C, Podevin G, Liet JM, Quere MP, Joubert M, Rival JM. Prenatal diagnosis of sacrococcygeal teratoma with constitutional partial monosomy 7q/trisomy 2p. Prenat Diagn 2003;23:981-4.
-
(2003)
Prenat Diagn
, vol.23
, pp. 981-984
-
-
Le Caignec, C.1
Winer, N.2
Boceno, M.3
Delnatte, C.4
Podevin, G.5
Liet, J.M.6
Quere, M.P.7
Joubert, M.8
Rival, J.M.9
-
38
-
-
0030927637
-
Chromosome 22q11 deletion presenting as the Polter sequence
-
Devriendt K, Moerman P, Van Schoubroeck D, Vandenberghe K, Fryns JP. Chromosome 22q11 deletion presenting as the Polter sequence. J Med Genet 1997;34:423-5.
-
(1997)
J Med Genet
, vol.34
, pp. 423-425
-
-
Devriendt, K.1
Moerman, P.2
Van Schoubroeck, D.3
Vandenberghe, K.4
Fryns, J.P.5
-
39
-
-
0028882547
-
Insulin-like growth factor I receptor expression and function in fibroblasts from two patients with deletion of the distal long arm of chromosome 15
-
Siebler T, Lopaczynski W, Terry CL, Casella SJ, Munson P, De Leon DD, Phang L, Blakemore KJ, McEvoy RC, Kelley RI. Insulin-like growth factor I receptor expression and function in fibroblasts from two patients with deletion of the distal long arm of chromosome 15. J Clin Endocrinol Metab 1995;80:3447-57.
-
(1995)
J Clin Endocrinol Metab
, vol.80
, pp. 3447-3457
-
-
Siebler, T.1
Lopaczynski, W.2
Terry, C.L.3
Casella, S.J.4
Munson, P.5
De Leon, D.D.6
Phang, L.7
Blakemore, K.J.8
McEvoy, R.C.9
Kelley, R.I.10
-
40
-
-
0034840314
-
De novo terminal deletion of chromosome 15q26.1 characterised by comparative genomic hybridisation and FISH with locus specific probes
-
Tonnies H, Schulze I, Hennies H, Neumann LM, Keitzer R, Neitzel H. De novo terminal deletion of chromosome 15q26.1 characterised by comparative genomic hybridisation and FISH with locus specific probes. J Med Genet 2001;38:617-21.
-
(2001)
J Med Genet
, vol.38
, pp. 617-621
-
-
Tonnies, H.1
Schulze, I.2
Hennies, H.3
Neumann, L.M.4
Keitzer, R.5
Neitzel, H.6
-
41
-
-
0027496895
-
Mice carrying null mutations of the genes encoding insulin-like growth factor I (Igf-1) and type 1 IGF receptor (Igf1r)
-
Liu JP, Baker J, Perkins AS, Robertson EJ, Efstratiadis A. Mice carrying null mutations of the genes encoding insulin-like growth factor I (Igf-1) and type 1 IGF receptor (Igf1r). Cell 1993;75:59-72.
-
(1993)
Cell
, vol.75
, pp. 59-72
-
-
Liu, J.P.1
Baker, J.2
Perkins, A.S.3
Robertson, E.J.4
Efstratiadis, A.5
-
42
-
-
0028829102
-
Insulin-like growth factor I and its binding proteins in the cardiovascular system
-
Delafontaine P. Insulin-like growth factor I and its binding proteins in the cardiovascular system. Cardiovasc Res 1995;30:825-34.
-
(1995)
Cardiovasc Res
, vol.30
, pp. 825-834
-
-
Delafontaine, P.1
-
43
-
-
0026088502
-
An infant with deletion of the distal long arm of chromosome 15 (q26.1 -qter) and loss of insulin-like growth factor 1 receptor gene
-
Roback EW, Barakat AJ, Dev VG, Mbikay M, Chretien M, Butler MG. An infant with deletion of the distal long arm of chromosome 15 (q26.1 -qter) and loss of insulin-like growth factor 1 receptor gene. Am J Med Genet 1991;38:74-9.
-
(1991)
Am J Med Genet
, vol.38
, pp. 74-79
-
-
Roback, E.W.1
Barakat, A.J.2
Dev, V.G.3
Mbikay, M.4
Chretien, M.5
Butler, M.G.6
-
44
-
-
4243778263
-
Interstitial deletion 16q in two patients: Confirmation of cytogenetics by analysis of haptoglobin levels
-
McDonald DM, Spinner NB, King MC, Emanuell BS, Zackai EH. Interstitial deletion 16q in two patients: confirmation of cytogenetics by analysis of haptoglobin levels. Am J Hum Genet 1987;41:A132.
-
(1987)
Am J Hum Genet
, vol.41
-
-
McDonald, D.M.1
Spinner, N.B.2
King, M.C.3
Emanuell, B.S.4
Zackai, E.H.5
-
45
-
-
0027426003
-
High resolution mapping of interstitial long arm deletions of chromosome 16: Relationship to phenotype
-
Callen DF, Eyre H, Lane S, Shen Y, Hansmann I, Spinner N, Zackai E, McDonald-McGinn D, Schuffenhauer S, Wauters J. High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype. J Med Genet 1993;30:828-32.
-
(1993)
J Med Genet
, vol.30
, pp. 828-832
-
-
Callen, D.F.1
Eyre, H.2
Lane, S.3
Shen, Y.4
Hansmann, I.5
Spinner, N.6
Zackai, E.7
McDonald-McGinn, D.8
Schuffenhauer, S.9
Wauters, J.10
-
46
-
-
0030734494
-
Cytogenetic and clinical findings in a patient with a deletion of 16q23. 1: First report of bilateral cataracts and a 16q deletion
-
Monaghan KG, Van Dyke DL, Wiktor A, Feldman GL. Cytogenetic and clinical findings in a patient with a deletion of 16q23. 1: first report of bilateral cataracts and a 16q deletion, Am J Med Genet 1997;73:180-3.
-
(1997)
Am J Med Genet
, vol.73
, pp. 180-183
-
-
Monaghan, K.G.1
Van Dyke, D.L.2
Wiktor, A.3
Feldman, G.L.4
-
47
-
-
0030900462
-
A small deletion of 16q23.1→16q24.2 [del(16)(q23.1q24.2).ish del(16)(q23.1q24.2)(D16S395+, D10S348-, P5432+)] in a boy with iris coloboma and minor anomalies
-
Werner W, Kraft S, Callen DF, Bartsch O, Hinkel GK. A small deletion of 16q23.1→16q24.2 [del(16)(q23.1q24.2).ish del(16)(q23.1q24.2)(D16S395+, D10S348-, P5432+)] in a boy with iris coloboma and minor anomalies. Am J Med Genet 1997;70:371-6.
-
(1997)
Am J Med Genet
, vol.70
, pp. 371-376
-
-
Werner, W.1
Kraft, S.2
Callen, D.F.3
Bartsch, O.4
Hinkel, G.K.5
-
48
-
-
0017757317
-
Trisomy 18qter and trisomy mapping of chromosome 18
-
Turleau C, de Grouchy J. Trisomy 18qter and trisomy mapping of chromosome 18. Clin Genet 1977;12:361-71.
-
(1977)
Clin Genet
, vol.12
, pp. 361-371
-
-
Turleau, C.1
De Grouchy, J.2
-
50
-
-
0025376405
-
Terminal deletion of 6q and Fryns syndrome: A microdeletion/syndrome pair?
-
Krassikoff N, Sekhon GS. Terminal deletion of 6q and Fryns syndrome: a microdeletion/syndrome pair? Am J Med Genet 1990;36:363-4.
-
(1990)
Am J Med Genet
, vol.36
, pp. 363-364
-
-
Krassikoff, N.1
Sekhon, G.S.2
-
51
-
-
13444288462
-
The 10q telomere region is a common site mediating polymorphic and pathogenic telomere rearrangements
-
Waggoner D, Eash D, Ilkin Y, Surti U, McPherson E, Siegler M, Tepperberg J, Lese-Martin C. The 10q telomere region is a common site mediating polymorphic and pathogenic telomere rearrangements. Am J Hum Genet 2003;73:307, A806.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 307
-
-
Waggoner, D.1
Eash, D.2
Ilkin, Y.3
Surti, U.4
McPherson, E.5
Siegler, M.6
Tepperberg, J.7
Lese-Martin, C.8
-
52
-
-
11144354654
-
Genomic imbalances in mental retardation
-
Kriek M, White SJ, Bouma MC, Dauwerse HG, Hansson KB, Nijhuis JV, Bakker B, van Ommen GJ, den Dunnen JT, Breuning MH. Genomic imbalances in mental retardation. J Med Genet 2004;41:249-55.
-
(2004)
J Med Genet
, vol.41
, pp. 249-255
-
-
Kriek, M.1
White, S.J.2
Bouma, M.C.3
Dauwerse, H.G.4
Hansson, K.B.5
Nijhuis, J.V.6
Bakker, B.7
Van Ommen, G.J.8
Den Dunnen, J.T.9
Breuning, M.H.10
-
53
-
-
1542616279
-
The performance of CGH array for the detection of cryptic constitutional chromosome imbalances
-
Schoumans J, Anderlid BM, Blennow E, Teh BT, Nordenskjold M. The performance of CGH array for the detection of cryptic constitutional chromosome imbalances. J Med Genet 2004;41:198-202.
-
(2004)
J Med Genet
, vol.41
, pp. 198-202
-
-
Schoumans, J.1
Anderlid, B.M.2
Blennow, E.3
Teh, B.T.4
Nordenskjold, M.5
-
54
-
-
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. A tiling resolution DNA microarray with complete coverage of the human genome. Nat Genet 2004;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
|