-
1
-
-
0028939240
-
Duplication 3q syndrome: Molecular delineation of the critical region
-
Aqua MS, Rizzu P, Lindsay EA, Shaffer LG, Zackai EH, Overhauser J, Baldini A. 1995. Duplication 3q syndrome: Molecular delineation of the critical region. Am J Med Genet 55:33-37.
-
(1995)
Am J Med Genet
, vol.55
, pp. 33-37
-
-
Aqua, M.S.1
Rizzu, P.2
Lindsay, E.A.3
Shaffer, L.G.4
Zackai, E.H.5
Overhauser, J.6
Baldini, A.7
-
2
-
-
0034047585
-
Molecular cytogenetic studies in three patients with partial trisomy 2p, including CGH from paraffin-embedded tissue
-
Aviram-Goldring A, Fritz B, Bartsch C, Steuber E, Daniely M, Lev D, Chaki R, Barkai G, Frydman M, Rehder H. 2000. Molecular cytogenetic studies in three patients with partial trisomy 2p, including CGH from paraffin-embedded tissue. Am J Med Genet 91:74-82.
-
(2000)
Am J Med Genet
, vol.91
, pp. 74-82
-
-
Aviram-Goldring, A.1
Fritz, B.2
Bartsch, C.3
Steuber, E.4
Daniely, M.5
Lev, D.6
Chaki, R.7
Barkai, G.8
Frydman, M.9
Rehder, H.10
-
3
-
-
0033926363
-
An optimized probe set for the detection of small interchromosomal aberrations by use of 24-color FISH
-
Azofeifa J, Fauth C, Kraus J, Maierhofer C, Langer S, Bolzer A, Reichman J, Schuffenhauer S, Speicher MR. 2000. An optimized probe set for the detection of small interchromosomal aberrations by use of 24-color FISH. Am J Hum Genet 66:1684-1688.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1684-1688
-
-
Azofeifa, J.1
Fauth, C.2
Kraus, J.3
Maierhofer, C.4
Langer, S.5
Bolzer, A.6
Reichman, J.7
Schuffenhauer, S.8
Speicher, M.R.9
-
4
-
-
0030902026
-
The inv dup(15) syndrome: A clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy
-
Battaglia A, Gurrieri F, Bertini E, Bellacosa A, Pomponi MG, Paravatou-Petsotas M, Mazza S, Neri G. 1997. The inv dup(15) syndrome: A clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy. Neurology 48:1081-1086.
-
(1997)
Neurology
, vol.48
, pp. 1081-1086
-
-
Battaglia, A.1
Gurrieri, F.2
Bertini, E.3
Bellacosa, A.4
Pomponi, M.G.5
Paravatou-Petsotas, M.6
Mazza, S.7
Neri, G.8
-
5
-
-
0031939328
-
Minimal sizes of deletions detected by comparative genomic hybridization
-
Bentz M, Plesch A, Stilgenbauer S, Dohner H, Lichter P. 1998. Minimal sizes of deletions detected by comparative genomic hybridization. Genes Chromosomes Cancer 21:172-175.
-
(1998)
Genes Chromosomes Cancer
, vol.21
, pp. 172-175
-
-
Bentz, M.1
Plesch, A.2
Stilgenbauer, S.3
Dohner, H.4
Lichter, P.5
-
6
-
-
0034015899
-
Individuals with abnormal phenotype and normal G-banding karyotype: Improvement and limitations in the diagnosis by the use of 24-colour FISH
-
Bezrookove V, Hansson K, van der BM, van der Smagt JJ, Hilhorst-Hofstee Y, Wiegant J, Beverstock GC, Raap AK, Tanke H, Breuning MH, Rosenberg C. 2000. Individuals with abnormal phenotype and normal G-banding karyotype: Improvement and limitations in the diagnosis by the use of 24-colour FISH. Hum Genet 106:392-398.
-
(2000)
Hum Genet
, vol.106
, pp. 392-398
-
-
Bezrookove, V.1
Hansson, K.2
Van der, B.M.3
Van der Smagt, J.J.4
Hilhorst-Hofstee, Y.5
Wiegant, J.6
Beverstock, G.C.7
Raap, A.K.8
Tanke, H.9
Breuning, M.H.10
Rosenberg, C.11
-
7
-
-
0031853939
-
Characterization of two add(4qter) chromosomes by comparative genomic hybridization
-
Boceno M, Rival JM, Nomballais MF, David A, Avet-Loiseau H. 1998. Characterization of two add(4qter) chromosomes by comparative genomic hybridization. Ann Genet 41:83-86.
-
(1998)
Ann Genet
, vol.41
, pp. 83-86
-
-
Boceno, M.1
Rival, J.M.2
Nomballais, M.F.3
David, A.4
Avet-Loiseau, H.5
-
8
-
-
0032965397
-
Applications of comparative genomic hybridisation in constitutional chromosome studies
-
Breen CJ, Barton L, Carey A, Dunlop A, Glancy M, Hall K, Hegarty AM, Khokhar MT, Power M, Ryan K, Green AJ, Stallings RL. 1999. Applications of comparative genomic hybridisation in constitutional chromosome studies. J Med Genet 36:511-517.
-
(1999)
J Med Genet
, vol.36
, pp. 511-517
-
-
Breen, C.J.1
Barton, L.2
Carey, A.3
Dunlop, A.4
Glancy, M.5
Hall, K.6
Hegarty, A.M.7
Khokhar, M.T.8
Power, M.9
Ryan, K.10
Green, A.J.11
Stallings, R.L.12
-
9
-
-
0035052768
-
Subtelomeric chromosome rearrangements are detected using an innovative 12-color FISH assay (M-TEL)
-
Brown J, Saracoglu K, Uhrig S, Speicher MR, Eils R, Kearney L. 2001. Subtelomeric chromosome rearrangements are detected using an innovative 12-color FISH assay (M-TEL). Nat Med 7:497-501.
-
(2001)
Nat Med
, vol.7
, pp. 497-501
-
-
Brown, J.1
Saracoglu, K.2
Uhrig, S.3
Speicher, M.R.4
Eils, R.5
Kearney, L.6
-
10
-
-
0033981939
-
Refinement of the 6q chromosomal region implicated in transient neonatal diabetes
-
Cave H, Polak M, Drunat S, Denamur E, Czernichow P. 2000. Refinement of the 6q chromosomal region implicated in transient neonatal diabetes. Diabetes 49:108-113.
-
(2000)
Diabetes
, vol.49
, pp. 108-113
-
-
Cave, H.1
Polak, M.2
Drunat, S.3
Denamur, E.4
Czernichow, P.5
-
11
-
-
16944364326
-
Autism or atypical autism in maternally but not paternally derived proximal 15q duplication
-
Cook EH Jr, Lindgren V, Leventhal BL, Courchesne R, Lincoln A, Shulman C, Lord C, Courchesne E. 1997. Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. Am J Hum Genet 60:928-934.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 928-934
-
-
Cook E.H., Jr.1
Lindgren, V.2
Leventhal, B.L.3
Courchesne, R.4
Lincoln, A.5
Shulman, C.6
Lord, C.7
Courchesne, E.8
-
12
-
-
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
-
13
-
-
0035083998
-
Clinical studies on submicroscopic subtelomeric rearrangements: A checklist
-
de Vries BB, White SM, Knight SJ, Regan R, Homfray T, Young ID, Super M, McKeown C, Splitt M, Quarrell OW, Trainer AH, Niermeijer MF, Malcolm S, Flint J, Hurst JA, Winter RM. 2001. Clinical studies on submicroscopic subtelomeric rearrangements: A checklist. J Med Genet 38:145-150.
-
(2001)
J Med Genet
, vol.38
, pp. 145-150
-
-
De Vries, B.B.1
White, S.M.2
Knight, S.J.3
Regan, R.4
Homfray, T.5
Young, I.D.6
Super, M.7
McKeown, C.8
Splitt, M.9
Quarrell, O.W.10
Trainer, A.H.11
Niermeijer, M.F.12
Malcolm, S.13
Flint, J.14
Hurst, J.A.15
Winter, R.M.16
-
14
-
-
0031052450
-
Segregation of a familial balanced (12;10) insertion resulting in Dup(10)(q21.2q22.1) and Del(10)(q21.2q22.1) in first cousins
-
Doheny KF, Rasmussen SA, Rutberg J, Semenza GL, Stamberg J, Schwartz M, Batista DA, Stetten G, Thomas GH. 1997. Segregation of a familial balanced (12;10) insertion resulting in Dup(10)(q21.2q22.1) and Del(10)(q21.2q22.1) in first cousins. Am J Med Genet 69:188-193.
-
(1997)
Am J Med Genet
, vol.69
, pp. 188-193
-
-
Doheny, K.F.1
Rasmussen, S.A.2
Rutberg, J.3
Semenza, G.L.4
Stamberg, J.5
Schwartz, M.6
Batista, D.A.7
Stetten, G.8
Thomas, G.H.9
-
15
-
-
0032425161
-
An optimized, fully automated system for fast and accurate identification of chromosomal rearrangements by multiplex-FISH (M-FISH)
-
Eils R, Uhrig S, Saracoglu K, Satzler K, Bolzer A, Petersen I, Chassery J, Ganser M, Speicher MR. 1998. An optimized, fully automated system for fast and accurate identification of chromosomal rearrangements by multiplex-FISH (M-FISH). Cytogenet Cell Genet 82:160-171.
-
(1998)
Cytogenet Cell Genet
, vol.82
, pp. 160-171
-
-
Eils, R.1
Uhrig, S.2
Saracoglu, K.3
Satzler, K.4
Bolzer, A.5
Petersen, I.6
Chassery, J.7
Ganser, M.8
Speicher, M.R.9
-
16
-
-
0030897814
-
Comparative genomic hybridization reveals a partial de novo trisomy 6q23-qter in an infant with congenital malformations: Delineation of the phenotype
-
Erdel M, Duba HC, Verdorfer I, Lingenhel A, Geiger R, Gutenberger KH, Ludescher E, Utermann B, Utermann G. 1997. Comparative genomic hybridization reveals a partial de novo trisomy 6q23-qter in an infant with congenital malformations: Delineation of the phenotype. Hum Genet 99:596-601.
-
(1997)
Hum Genet
, vol.99
, pp. 596-601
-
-
Erdel, M.1
Duba, H.C.2
Verdorfer, I.3
Lingenhel, A.4
Geiger, R.5
Gutenberger, K.H.6
Ludescher, E.7
Utermann, B.8
Utermann, G.9
-
18
-
-
0034016185
-
Genome changes and gene expression in human solid tumors
-
Gray JW, Collins C. 2000. Genome changes and gene expression in human solid tumors. Carcinogenesis 21:443-452.
-
(2000)
Carcinogenesis
, vol.21
, pp. 443-452
-
-
Gray, J.W.1
Collins, C.2
-
19
-
-
0031769001
-
Identification of de novo chromosomal markers and derivatives by spectral karyotyping
-
Haddad BR, Schrock E, Meck J, Cowan J, Young H, Ferguson-Smith MA, du MS, Ried T. 1998. Identification of de novo chromosomal markers and derivatives by spectral karyotyping. Hum Genet 103:619-625.
-
(1998)
Hum Genet
, vol.103
, pp. 619-625
-
-
Haddad, B.R.1
Schrock, E.2
Meck, J.3
Cowan, J.4
Young, H.5
Ferguson-Smith, M.A.6
Du, M.S.7
Ried, T.8
-
20
-
-
0035169682
-
Application of multicolor fluorescent in situ hybridization for enhanced characterization of chromosomal abnormalities in congenital disorders
-
Jalal SM, Law ME, Lindor NM, Thompson KJ, Sekhon GS. 2001. Application of multicolor fluorescent in situ hybridization for enhanced characterization of chromosomal abnormalities in congenital disorders. Mayo Clin Proc 76:16-21.
-
(2001)
Mayo Clin Proc
, vol.76
, pp. 16-21
-
-
Jalal, S.M.1
Law, M.E.2
Lindor, N.M.3
Thompson, K.J.4
Sekhon, G.S.5
-
21
-
-
0033013456
-
Comparative genomic hybridization as a tool in tumour cytogenetics
-
James LA. 1999. Comparative genomic hybridization as a tool in tumour cytogenetics. J Pathol 187:385-395.
-
(1999)
J Pathol
, vol.187
, pp. 385-395
-
-
James, L.A.1
-
22
-
-
0027966172
-
Optimizing comparative genomic hybridization for analysis of DNA sequence copy number changes in solid tumors
-
Kallioniemi OP, Kallioniemi A, Piper J, Isola J, Waldman FM, Gray JW, Pinkel D. 1994. Optimizing comparative genomic hybridization for analysis of DNA sequence copy number changes in solid tumors. Genes Chromosomes Cancer 10:231-243.
-
(1994)
Genes Chromosomes Cancer
, vol.10
, pp. 231-243
-
-
Kallioniemi, O.P.1
Kallioniemi, A.2
Piper, J.3
Isola, J.4
Waldman, F.M.5
Gray, J.W.6
Pinkel, D.7
-
23
-
-
0032032471
-
Detection of chromosomal gains and losses in comparative genomic hybridization analysis based on standard reference intervals
-
Kirchhoff M, Gerdes T, Rose H, Maahr J, Ottesen AM, Lundsteen C. 1998. Detection of chromosomal gains and losses in comparative genomic hybridization analysis based on standard reference intervals. Cytometry 31:163-173.
-
(1998)
Cytometry
, vol.31
, pp. 163-173
-
-
Kirchhoff, M.1
Gerdes, T.2
Rose, H.3
Maahr, J.4
Ottesen, A.M.5
Lundsteen, C.6
-
24
-
-
0032792821
-
Deletions below 10 megabasepairs are detected in comparative genomic hybridization by standard reference intervals
-
Kirchhoff M, Gerdes T, Maahr J, Rose H, Bentz M, Dohner H, Lundsteen C. 1999. Deletions below 10 megabasepairs are detected in comparative genomic hybridization by standard reference intervals. Genes Chromosomes Cancer 25:410-413.
-
(1999)
Genes Chromosomes Cancer
, vol.25
, pp. 410-413
-
-
Kirchhoff, M.1
Gerdes, T.2
Maahr, J.3
Rose, H.4
Bentz, M.5
Dohner, H.6
Lundsteen, C.7
-
25
-
-
0033822498
-
High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes
-
Kirchhoff M, Rose H, Maahr J, Gerdes T, Bugge M, Tommerup N, Tumer Z, Lespinasse J, Jensen PK, Wirth J, Lundsteen C. 2000. High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes. Eur J Hum Genet 8:661-668.
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 661-668
-
-
Kirchhoff, M.1
Rose, H.2
Maahr, J.3
Gerdes, T.4
Bugge, M.5
Tommerup, N.6
Tumer, Z.7
Lespinasse, J.8
Jensen, P.K.9
Wirth, J.10
Lundsteen, C.11
-
26
-
-
0002813573
-
Screening for submicroscopic chromosomal imbalances by comparative genomic hybridization
-
Kirchhoff M, Rose H, Gerdes T, Lundsteen C. 2001. Screening for submicroscopic chromosomal imbalances by comparative genomic hybridization. ECA Newsletter No 8; 3-7.
-
(2001)
ECA Newsletter
, vol.8
, pp. 3-7
-
-
Kirchhoff, M.1
Rose, H.2
Gerdes, T.3
Lundsteen, C.4
-
27
-
-
0033888037
-
Identification of an unbalanced cryptic translocation between the chromosomes 8 and 13 in two sisters with mild mental retardation accompanied by mild dysmorphic features
-
Kleefstra T, van de ZG, Merkx G, Mieloo H, Hoovers JM, Smeets D. 2000. Identification of an unbalanced cryptic translocation between the chromosomes 8 and 13 in two sisters with mild mental retardation accompanied by mild dysmorphic features. Eur J Hum Genet 8:637-640.
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 637-640
-
-
Kleefstra, T.1
Van de, Z.G.2
Merkx, G.3
Mieloo, H.4
Hoovers, J.M.5
Smeets, D.6
-
28
-
-
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. 1999. Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet 354:1676-1681.
-
(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
-
30
-
-
0031714587
-
Molecular characterization and delineation of subtle deletions in de novo "balanced" chromosomal rearrangements
-
Kumar A, Becker LA, Depinet TW, Haren JM, Kurtz CL, Robin NH, Cassidy SB, Wolff DJ, Schwartz S. 1998. Molecular characterization and delineation of subtle deletions in de novo "balanced" chromosomal rearrangements. Hum Genet 103:173-178.
-
(1998)
Hum Genet
, vol.103
, pp. 173-178
-
-
Kumar, A.1
Becker, L.A.2
Depinet, T.W.3
Haren, J.M.4
Kurtz, C.L.5
Robin, N.H.6
Cassidy, S.B.7
Wolff, D.J.8
Schwartz, S.9
-
31
-
-
0035074295
-
Limitations of chromosome classification by multicolor karyotyping
-
Lee C, Gisselsson D, Jin C, Nordgren A, Ferguson DO, Blennow E, Fletcher JA, Morton CC. 2001. Limitations of chromosome classification by multicolor karyotyping. Am J Hum Genet 68:1043-1047.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 1043-1047
-
-
Lee, C.1
Gisselsson, D.2
Jin, C.3
Nordgren, A.4
Ferguson, D.O.5
Blennow, E.6
Fletcher, J.A.7
Morton, C.C.8
-
32
-
-
0032195407
-
Clinical applications of comparative genomic hybridization
-
Levy B, Dunn TM, Kaffe S, Kardon N, Hirschhorn K. 1998. Clinical applications of comparative genomic hybridization. Genet Med 1:4-12.
-
(1998)
Genet Med
, vol.1
, pp. 4-12
-
-
Levy, B.1
Dunn, T.M.2
Kaffe, S.3
Kardon, N.4
Hirschhorn, K.5
-
33
-
-
0026518336
-
Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21
-
McGinniss MJ, Kazazian HH Jr, Stetten G, Petersen MB, Boman H, Engel E, Greenberg F, Hertz JM, Johnson A, Laca Z. 1992. Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21. Am J Hum Genet 50:15-28.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 15-28
-
-
McGinniss, M.J.1
Kazazian H.H., Jr.2
Stetten, G.3
Petersen, M.B.4
Boman, H.5
Engel, E.6
Greenberg, F.7
Hertz, J.M.8
Johnson, A.9
Laca, Z.10
-
34
-
-
0030908305
-
Deletion 4q21/4q22 syndrome: Two patients with de novo 4q21.3q23 and 4q13.2q23 deletions
-
Nowaczyk MJ, Teshima IE, Siegel-Bartelt J, Clarke JT. 1997. Deletion 4q21/4q22 syndrome: Two patients with de novo 4q21.3q23 and 4q13.2q23 deletions. Am J Med Genet 69:400-405.
-
(1997)
Am J Med Genet
, vol.69
, pp. 400-405
-
-
Nowaczyk, M.J.1
Teshima, I.E.2
Siegel-Bartelt, J.3
Clarke, J.T.4
-
35
-
-
0034487876
-
A distinctive phenotype associated with an interstitial deletion 6q14 contained within a de novo pericentric inversion 6 (p11.2q15)
-
Passarge E. 2000. A distinctive phenotype associated with an interstitial deletion 6q14 contained within a de novo pericentric inversion 6 (p11.2q15). Cytogenet Cell Genet 91:192-198.
-
(2000)
Cytogenet Cell Genet
, vol.91
, pp. 192-198
-
-
Passarge, E.1
-
36
-
-
0035105786
-
Identification of two de novo partial trisomies by comparative genomic hybridization
-
Rigola MA, Carrera M, Ribas I, De La Iglesia C, Mendez B, Egozcue J, Fuster C. 2001. Identification of two de novo partial trisomies by comparative genomic hybridization. Clin Genet 59:106-110.
-
(2001)
Clin Genet
, vol.59
, pp. 106-110
-
-
Rigola, M.A.1
Carrera, M.2
Ribas, I.3
De La Iglesia, C.4
Mendez, B.5
Egozcue, J.6
Fuster, C.7
-
37
-
-
0031037329
-
Delineation of a duplication map of chromosome 3q: A new case confirms the exclusion of 3q25-q26.2 from the duplication 3q syndrome critical region
-
Rizzu P, Haddad BR, Vallcorba I, Alonso A, Ferro MT, Garcia-Sagredo JM, Baldini A. 1997. Delineation of a duplication map of chromosome 3q: a new case confirms the exclusion of 3q25-q26.2 from the duplication 3q syndrome critical region. Am J Med Genet 68:428-432.
-
(1997)
Am J Med Genet
, vol.68
, pp. 428-432
-
-
Rizzu, P.1
Haddad, B.R.2
Vallcorba, I.3
Alonso, A.4
Ferro, M.T.5
Garcia-Sagredo, J.M.6
Baldini, A.7
-
38
-
-
0027304749
-
Familial complex chromosomal rearrangement resulting in duplication/deletion of 6q14 to 6q16
-
Roland B, Lowry RB, Cox DM, Ferreira P, Lin CC. 1993. Familial complex chromosomal rearrangement resulting in duplication/deletion of 6q14 to 6q16. Clin Genet 43:117-121.
-
(1993)
Clin Genet
, vol.43
, pp. 117-121
-
-
Roland, B.1
Lowry, R.B.2
Cox, D.M.3
Ferreira, P.4
Lin, C.C.5
-
40
-
-
2642683176
-
Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities
-
Schrock E, Veldman T, Padilla-Nash H, Ning Y, Spurbeck J, Jalal S, Shaffer LG, Papenhausen P, Kozma C, Phelan MC, Kjeldsen E, Schonberg SA, O'Brien P, Biesecker L, du MS, Ried T. 1997. Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities. Hum Genet 101:255-262.
-
(1997)
Hum Genet
, vol.101
, pp. 255-262
-
-
Schrock, E.1
Veldman, T.2
Padilla-Nash, H.3
Ning, Y.4
Spurbeck, J.5
Jalal, S.6
Shaffer, L.G.7
Papenhausen, P.8
Kozma, C.9
Phelan, M.C.10
Kjeldsen, E.11
Schonberg, S.A.12
O'Brien, P.13
Biesecker, L.14
Du, M.S.15
Ried, T.16
-
41
-
-
0035080163
-
Partial distal trisomy 3p. A partial autosomal trisomy without major dysmorphic features
-
Smeets E, Vandenbossche L, Fryns JP. 2001. Partial distal trisomy 3p. A partial autosomal trisomy without major dysmorphic features. Genet Couns 12:85-89.
-
(2001)
Genet Couns
, vol.12
, pp. 85-89
-
-
Smeets, E.1
Vandenbossche, L.2
Fryns, J.P.3
-
42
-
-
0033362090
-
Multiplex-FISH for pre- and postnatal diagnostic applications
-
Uhrig S, Schuffenhauer S, Fauth C, Wirtz A, Daumer-Haas C, Apacik C, Cohen M, Muller-Navia J, Cremer T, Murken J, Speicher MR. 1999. Multiplex-FISH for pre- and postnatal diagnostic applications. Am J Hum Genet 65:448-462.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 448-462
-
-
Uhrig, S.1
Schuffenhauer, S.2
Fauth, C.3
Wirtz, A.4
Daumer-Haas, C.5
Apacik, C.6
Cohen, M.7
Muller-Navia, J.8
Cremer, T.9
Murken, J.10
Speicher, M.R.11
-
43
-
-
0026678157
-
Interstitial deletion of the long arm of chromosome 11: Report of a case and review of the literature
-
Wakazono A, Masuno M, Yamaguchi S, Tsubouchi K, Kondo N, Orii T. 1992. Interstitial deletion of the long arm of chromosome 11: Report of a case and review of the literature. Jpn J Hum Genet 37:229-234.
-
(1992)
Jpn J Hum Genet
, vol.37
, pp. 229-234
-
-
Wakazono, A.1
Masuno, M.2
Yamaguchi, S.3
Tsubouchi, K.4
Kondo, N.5
Orii, T.6
-
44
-
-
0034130656
-
Delineation of a complex karyotypic rearrangement by microdissection and CGH in a family affected with split foot
-
Weimer J, Kiechle M, Wiedemann U, Tonnies H, Neitzel H, Ruhenstroth E, Ovens-Raeder A, Arnold N. 2000. Delineation of a complex karyotypic rearrangement by microdissection and CGH in a family affected with split foot. J Med Genet 37:442-445.
-
(2000)
J Med Genet
, vol.37
, pp. 442-445
-
-
Weimer, J.1
Kiechle, M.2
Wiedemann, U.3
Tonnies, H.4
Neitzel, H.5
Ruhenstroth, E.6
Ovens-Raeder, A.7
Arnold, N.8
-
45
-
-
0032904148
-
Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: Cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes
-
Wirth J, Nothwang HG, van der MS, Menzel C, Borck G, Lopez-Pajares I, Brondum-Nielsen K, Tommerup N, Bugge M, Ropers HH, HaafT. 1999. Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: Cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes. J Med Genet 36:271-278.
-
(1999)
J Med Genet
, vol.36
, pp. 271-278
-
-
Wirth, J.1
Nothwang, H.G.2
Van der, M.S.3
Menzel, C.4
Borck, G.5
Lopez-Pajares, I.6
Brondum-Nielsen, K.7
Tommerup, N.8
Bugge, M.9
Ropers, H.H.10
Haaf, T.11
|