-
1
-
-
0026574505
-
Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding
-
Jacobs P.A., Browne C., Gregson N., Joyce C., and White H. Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding. J. Med. Genet. 29 (1992) 103-108
-
(1992)
J. Med. Genet.
, vol.29
, pp. 103-108
-
-
Jacobs, P.A.1
Browne, C.2
Gregson, N.3
Joyce, C.4
White, H.5
-
2
-
-
0025941775
-
De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints
-
Warburton D. De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am. J. Hum. Genet. 49 (1991) 995-1013
-
(1991)
Am. J. Hum. Genet.
, vol.49
, pp. 995-1013
-
-
Warburton, D.1
-
3
-
-
0031714587
-
Molecular characterization and delineation of subtle deletions in de novo "balanced" chromosomal rearrangements
-
Kumar A., Becker L.A., Depinet T.W., Haren J.M., Kurtz C.L., Robin N.H., Cassidy S.B., Wolff D.J., and Schwartz S. Molecular characterization and delineation of subtle deletions in de novo "balanced" chromosomal rearrangements. Hum. Genet. 103 (1998) 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
-
4
-
-
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 H.G., van der Maarel S., Menzel C., Borck G., Lopez-Pajares I., Brondum-Nielsen K., Tommerup N., Bugge M., and Robers H.H. 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 (1999) 271-279
-
(1999)
J. Med. Genet.
, vol.36
, pp. 271-279
-
-
Wirth, J.1
Nothwang, H.G.2
van der Maarel, S.3
Menzel, C.4
Borck, G.5
Lopez-Pajares, I.6
Brondum-Nielsen, K.7
Tommerup, N.8
Bugge, M.9
Robers, H.H.10
-
5
-
-
18444382034
-
A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocation
-
Borg I., Squire M., Menzel C., Stout K., Morgan D., Willatt L., O'Brien P.C., Ferguson-Smith M.A., Ropers H.H., Tommerup N., et al. A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocation. J. Med. Genet. 39 (2002) 391-399
-
(2002)
J. Med. Genet.
, vol.39
, pp. 391-399
-
-
Borg, I.1
Squire, M.2
Menzel, C.3
Stout, K.4
Morgan, D.5
Willatt, L.6
O'Brien, P.C.7
Ferguson-Smith, M.A.8
Ropers, H.H.9
Tommerup, N.10
-
6
-
-
0037335978
-
Identification of a 650 kb duplication at the X chromosome breakpoint in a patient with 46,X,t(X;8)(q28;q12) and non-syndromic mental retardation
-
Cox J.J., Holden S.T., Dee S., Burbridge J.I., and Raymond F.L. Identification of a 650 kb duplication at the X chromosome breakpoint in a patient with 46,X,t(X;8)(q28;q12) and non-syndromic mental retardation. J. Med. Genet. 40 (2003) 169-174
-
(2003)
J. Med. Genet.
, vol.40
, pp. 169-174
-
-
Cox, J.J.1
Holden, S.T.2
Dee, S.3
Burbridge, J.I.4
Raymond, F.L.5
-
7
-
-
0344953586
-
Mutations in SOX2 cause anophthalmia
-
Fantes J., Ragge N.K., Lynch S.A., McGill N.I., Collin J.R., Howard-Peebles P.N., Hayward C., Vivian A.J., Williamson K., van Heyningen V., et al. Mutations in SOX2 cause anophthalmia. Nat. Genet. 33 (2003) 461-463
-
(2003)
Nat. Genet.
, vol.33
, pp. 461-463
-
-
Fantes, J.1
Ragge, N.K.2
Lynch, S.A.3
McGill, N.I.4
Collin, J.R.5
Howard-Peebles, P.N.6
Hayward, C.7
Vivian, A.J.8
Williamson, K.9
van Heyningen, V.10
-
8
-
-
1942476904
-
Detection of deletions in de novo "balanced" chromosome rearrangements: further evidence for their role in phenotypic abnormalities
-
Astbury C., Christ L.A., Aughton D.J., Cassidy S.B., Kumar A., Eichler E.E., and Schwartz S. Detection of deletions in de novo "balanced" chromosome rearrangements: further evidence for their role in phenotypic abnormalities. Genet. Med. 6 (2004) 81-89
-
(2004)
Genet. Med.
, vol.6
, pp. 81-89
-
-
Astbury, C.1
Christ, L.A.2
Aughton, D.J.3
Cassidy, S.B.4
Kumar, A.5
Eichler, E.E.6
Schwartz, S.7
-
9
-
-
19944432367
-
The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes
-
Gribble S.M., Prigmore E., Burford D.C., Porter K.M., Ng B.L., Douglas E.J., Fiegler H., Carr P., Kalaitzopoulos D., Clegg S., et al. The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes. J. Med. Genet. 42 (2005) 8-16
-
(2005)
J. Med. Genet.
, vol.42
, pp. 8-16
-
-
Gribble, S.M.1
Prigmore, E.2
Burford, D.C.3
Porter, K.M.4
Ng, B.L.5
Douglas, E.J.6
Fiegler, H.7
Carr, P.8
Kalaitzopoulos, D.9
Clegg, S.10
-
10
-
-
37249022297
-
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients
-
De Gregori M., Ciccone R., Magini P., Pramparo T., Gimelli S., Messa J., Novara F., Vetro A., Rossi E., Maraschio P., et al. Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients. J. Med. Genet. 44 (2007) 750-762
-
(2007)
J. Med. Genet.
, vol.44
, pp. 750-762
-
-
De Gregori, M.1
Ciccone, R.2
Magini, P.3
Pramparo, T.4
Gimelli, S.5
Messa, J.6
Novara, F.7
Vetro, A.8
Rossi, E.9
Maraschio, P.10
-
11
-
-
27544490144
-
Reciprocal translocations: a trap for cytogenetists?
-
Ciccone R., Giorda R., Gregato G., Guerrini R., Giglio S., Carrozzo R., Bonaglia M.C., Priolo E., Lagana C., Tenconi R., et al. Reciprocal translocations: a trap for cytogenetists?. Hum. Genet. 117 (2005) 571-582
-
(2005)
Hum. Genet.
, vol.117
, pp. 571-582
-
-
Ciccone, R.1
Giorda, R.2
Gregato, G.3
Guerrini, R.4
Giglio, S.5
Carrozzo, R.6
Bonaglia, M.C.7
Priolo, E.8
Lagana, C.9
Tenconi, R.10
-
12
-
-
0038577171
-
Disruption of the neuronal PAS3 gene in a family affected with schizophrenia
-
Kamnasaran D., Muir W.J., Ferguson-Smith M.A., and Cox D.W. Disruption of the neuronal PAS3 gene in a family affected with schizophrenia. J. Med. Genet. 40 (2003) 325-332
-
(2003)
J. Med. Genet.
, vol.40
, pp. 325-332
-
-
Kamnasaran, D.1
Muir, W.J.2
Ferguson-Smith, M.A.3
Cox, D.W.4
-
13
-
-
4444331256
-
Fluorescence in situ hybridization characterization of apparently balanced translocation reveals cryptic complex chromosomal rearrangements with unexpected level of complexity
-
Patsalis P.C., Evangelidou P., Charalambous S., and Sismani C. Fluorescence in situ hybridization characterization of apparently balanced translocation reveals cryptic complex chromosomal rearrangements with unexpected level of complexity. Eur. J. Hum. Genet. 12 (2004) 647-653
-
(2004)
Eur. J. Hum. Genet.
, vol.12
, pp. 647-653
-
-
Patsalis, P.C.1
Evangelidou, P.2
Charalambous, S.3
Sismani, C.4
-
14
-
-
27544496495
-
Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly
-
Shoichet S.A., Kunde S.A., Viertel P., Schell-Apacik C., von Voss H., Tommerup N., Ropers H.H., and Kalscheuer V.M. Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly. Hum. Genet. 117 (2005) 536-544
-
(2005)
Hum. Genet.
, vol.117
, pp. 536-544
-
-
Shoichet, S.A.1
Kunde, S.A.2
Viertel, P.3
Schell-Apacik, C.4
von Voss, H.5
Tommerup, N.6
Ropers, H.H.7
Kalscheuer, V.M.8
-
15
-
-
0030906960
-
Recombination in a balanced complex translocation of a mother leading to a balanced reciprocal translocation in the child. Review of 60 cases of balanced complex translocations
-
Madan K., Nieuwint A.W., and van Bever Y. Recombination in a balanced complex translocation of a mother leading to a balanced reciprocal translocation in the child. Review of 60 cases of balanced complex translocations. Hum. Genet. 99 (1997) 806-815
-
(1997)
Hum. Genet.
, vol.99
, pp. 806-815
-
-
Madan, K.1
Nieuwint, A.W.2
van Bever, Y.3
-
16
-
-
0034927366
-
Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome
-
Bonaglia M.C., Giorda R., Borgatti R., Felisari G., Gagliardi C., Selicorni A., and Zuffardi O. Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome. Am. J. Hum. Genet. 69 (2001) 261-268
-
(2001)
Am. J. Hum. Genet.
, vol.69
, pp. 261-268
-
-
Bonaglia, M.C.1
Giorda, R.2
Borgatti, R.3
Felisari, G.4
Gagliardi, C.5
Selicorni, A.6
Zuffardi, O.7
-
17
-
-
23644441933
-
Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome
-
Borg I., Freude K., Kubart S., Hoffmann K., Menzel C., Laccone F., Firth H., Ferguson-Smith M.A., Tommerup N., Ropers H.H., et al. Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome. Eur. J. Hum. Genet. 13 (2005) 921-927
-
(2005)
Eur. J. Hum. Genet.
, vol.13
, pp. 921-927
-
-
Borg, I.1
Freude, K.2
Kubart, S.3
Hoffmann, K.4
Menzel, C.5
Laccone, F.6
Firth, H.7
Ferguson-Smith, M.A.8
Tommerup, N.9
Ropers, H.H.10
-
18
-
-
10744227687
-
Identification of SATB2 as the cleft palate gene on 2q32-q33
-
FitzPatrick D.R., Carr I.M., McLaren L., Leek J.P., Wightman P., Williamson K., Gautier P., McGill N., Hayward C., Firth H., et al. Identification of SATB2 as the cleft palate gene on 2q32-q33. Hum. Mol. Genet. 12 (2003) 2491-2501
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 2491-2501
-
-
FitzPatrick, D.R.1
Carr, I.M.2
McLaren, L.3
Leek, J.P.4
Wightman, P.5
Williamson, K.6
Gautier, P.7
McGill, N.8
Hayward, C.9
Firth, H.10
-
19
-
-
33645121876
-
Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins
-
Johnson D., Morrison N., Grant L., Turner T., Fantes J., Connor J.M., and Murday V. Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins. J. Med. Genet. 43 (2006) 280-284
-
(2006)
J. Med. Genet.
, vol.43
, pp. 280-284
-
-
Johnson, D.1
Morrison, N.2
Grant, L.3
Turner, T.4
Fantes, J.5
Connor, J.M.6
Murday, V.7
-
20
-
-
23644444150
-
Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation
-
Mansouri M.R., Marklund L., Gustavsson P., Davey E., Carlsson B., Larsson C., White I., Gustavson K.H., and Dahl N. Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation. Eur. J. Hum. Genet. 13 (2005) 970-977
-
(2005)
Eur. J. Hum. Genet.
, vol.13
, pp. 970-977
-
-
Mansouri, M.R.1
Marklund, L.2
Gustavsson, P.3
Davey, E.4
Carlsson, B.5
Larsson, C.6
White, I.7
Gustavson, K.H.8
Dahl, N.9
-
21
-
-
0036523934
-
A candidate gene for congenital bilateral isolated ptosis identified by molecular analysis of a de novo balanced translocation
-
McMullan T.W., Crolla J.A., Gregory S.G., Carter N.P., Cooper R.A., Howell G.R., and Robinson D.O. A candidate gene for congenital bilateral isolated ptosis identified by molecular analysis of a de novo balanced translocation. Hum. Genet. 110 (2002) 244-250
-
(2002)
Hum. Genet.
, vol.110
, pp. 244-250
-
-
McMullan, T.W.1
Crolla, J.A.2
Gregory, S.G.3
Carter, N.P.4
Cooper, R.A.5
Howell, G.R.6
Robinson, D.O.7
-
22
-
-
0033968407
-
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation
-
Zemni R., Bienvenu T., Vinet M.C., Sefiani A., Carrie A., Billuart P., McDonell N., Couvert P., Francis F., Chafey P., et al. A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation. Nat. Genet. 24 (2000) 167-170
-
(2000)
Nat. Genet.
, vol.24
, pp. 167-170
-
-
Zemni, R.1
Bienvenu, T.2
Vinet, M.C.3
Sefiani, A.4
Carrie, A.5
Billuart, P.6
McDonell, N.7
Couvert, P.8
Francis, F.9
Chafey, P.10
-
23
-
-
11144339384
-
Long-range control of gene expression: emerging mechanisms and disruption in disease
-
Kleinjan D.A., and van Heyningen V. Long-range control of gene expression: emerging mechanisms and disruption in disease. Am. J. Hum. Genet. 76 (2005) 8-32
-
(2005)
Am. J. Hum. Genet.
, vol.76
, pp. 8-32
-
-
Kleinjan, D.A.1
van Heyningen, V.2
-
24
-
-
0027219422
-
Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders
-
Tommerup N. Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders. J. Med. Genet. 30 (1993) 713-727
-
(1993)
J. Med. Genet.
, vol.30
, pp. 713-727
-
-
Tommerup, N.1
-
25
-
-
33644551803
-
Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individuals
-
Baptista J., Prigmore E., Gribble S.M., Jacobs P.A., Carter N.P., and Crolla J.A. Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individuals. Eur. J. Hum. Genet. 13 (2005) 1205-1212
-
(2005)
Eur. J. Hum. Genet.
, vol.13
, pp. 1205-1212
-
-
Baptista, J.1
Prigmore, E.2
Gribble, S.M.3
Jacobs, P.A.4
Carter, N.P.5
Crolla, J.A.6
-
26
-
-
0041328509
-
Array painting: a method for the rapid analysis of aberrant chromosomes using DNA microarrays
-
Fiegler H., Gribble S.M., Burford D.C., Carr P., Prigmore E., Porter K.M., Clegg S., Crolla J.A., Dennis N.R., Jacobs P., et al. Array painting: a method for the rapid analysis of aberrant chromosomes using DNA microarrays. J. Med. Genet. 40 (2003) 664-670
-
(2003)
J. Med. Genet.
, vol.40
, pp. 664-670
-
-
Fiegler, H.1
Gribble, S.M.2
Burford, D.C.3
Carr, P.4
Prigmore, E.5
Porter, K.M.6
Clegg, S.7
Crolla, J.A.8
Dennis, N.R.9
Jacobs, P.10
-
27
-
-
0037376804
-
DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones
-
Fiegler H., Carr P., Douglas E.J., Burford D.C., Hunt S., Scott C.E., Smith J., Vetrie D., Gorman P., Tomlinson I.P., et al. DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones. Genes Chromosomes Cancer 36 (2003) 361-374
-
(2003)
Genes Chromosomes Cancer
, vol.36
, pp. 361-374
-
-
Fiegler, H.1
Carr, P.2
Douglas, E.J.3
Burford, D.C.4
Hunt, S.5
Scott, C.E.6
Smith, J.7
Vetrie, D.8
Gorman, P.9
Tomlinson, I.P.10
-
28
-
-
33751349817
-
Accurate and reliable high-throughput detection of copy number variation in the human genome
-
Fiegler H., Redon R., Andrews D., Scott C., Andrews R., Carder C., Clark R., Dovey O., Ellis P., Feuk L., et al. Accurate and reliable high-throughput detection of copy number variation in the human genome. Genome Res. 16 (2006) 1566-1574
-
(2006)
Genome Res.
, vol.16
, pp. 1566-1574
-
-
Fiegler, H.1
Redon, R.2
Andrews, D.3
Scott, C.4
Andrews, R.5
Carder, C.6
Clark, R.7
Dovey, O.8
Ellis, P.9
Feuk, L.10
-
29
-
-
20344361929
-
De novo t(7;10)(q33;q23) translocation and closely juxtaposed microdeletion in a patient with macrocephaly and developmental delay
-
Yue Y., Grossmann B., Holder S.E., and Haaf T. De novo t(7;10)(q33;q23) translocation and closely juxtaposed microdeletion in a patient with macrocephaly and developmental delay. Hum. Genet. 117 (2005) 1-8
-
(2005)
Hum. Genet.
, vol.117
, pp. 1-8
-
-
Yue, Y.1
Grossmann, B.2
Holder, S.E.3
Haaf, T.4
-
30
-
-
34249904395
-
Fortuitous detection of a submicroscopic deletion at 1q25 in a girl with Cornelia-de Lange syndrome carrying t(5;13)(p13.1;q12.1) by array-based comparative genomic hybridization
-
Hayashi S., Ono M., Makita Y., Imoto I., Mizutani S., and Inazawa J. Fortuitous detection of a submicroscopic deletion at 1q25 in a girl with Cornelia-de Lange syndrome carrying t(5;13)(p13.1;q12.1) by array-based comparative genomic hybridization. Am. J. Med. Genet. A. 143 (2007) 1191-1197
-
(2007)
Am. J. Med. Genet. A.
, vol.143
, pp. 1191-1197
-
-
Hayashi, S.1
Ono, M.2
Makita, Y.3
Imoto, I.4
Mizutani, S.5
Inazawa, J.6
-
31
-
-
15944402131
-
Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia
-
Velagaleti G.V., Bien-Willner G.A., Northup J.K., Lockhart L.H., Hawkins J.C., Jalal S.M., Withers M., Lupski J.R., and Stankiewicz P. Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia. Am. J. Hum. Genet. 76 (2005) 652-662
-
(2005)
Am. J. Hum. Genet.
, vol.76
, pp. 652-662
-
-
Velagaleti, G.V.1
Bien-Willner, G.A.2
Northup, J.K.3
Lockhart, L.H.4
Hawkins, J.C.5
Jalal, S.M.6
Withers, M.7
Lupski, J.R.8
Stankiewicz, P.9
-
32
-
-
14944374438
-
Distributions of exons and introns in the human genome
-
Sakharkar M.K., Chow V.T., and Kangueane P. Distributions of exons and introns in the human genome. In Silico Biol. 4 (2004) 387-393
-
(2004)
In Silico Biol.
, vol.4
, pp. 387-393
-
-
Sakharkar, M.K.1
Chow, V.T.2
Kangueane, P.3
-
33
-
-
27544474679
-
The SNAP25 gene as a susceptibility gene contributing to attention-deficit hyperactivity disorder
-
973
-
Feng Y., Crosbie J., Wigg K., Pathare T., Ickowicz A., Schachar R., Tannock R., Roberts W., Malone M., et al. The SNAP25 gene as a susceptibility gene contributing to attention-deficit hyperactivity disorder. Mol.Psychiatry 10 (2005) 998-1005 973
-
(2005)
Mol.Psychiatry
, vol.10
, pp. 998-1005
-
-
Feng, Y.1
Crosbie, J.2
Wigg, K.3
Pathare, T.4
Ickowicz, A.5
Schachar, R.6
Tannock, R.7
Roberts, W.8
Malone, M.9
-
34
-
-
0348077408
-
X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome
-
Cason A.L., Ikeguchi Y., Skinner C., Wood T.C., Holden K.R., Lubs H.A., Martinez F., Simensen R.J., Stevenson R.E., Pegg A.E., et al. X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome. Eur. J. Hum. Genet. 11 (2003) 937-944
-
(2003)
Eur. J. Hum. Genet.
, vol.11
, pp. 937-944
-
-
Cason, A.L.1
Ikeguchi, Y.2
Skinner, C.3
Wood, T.C.4
Holden, K.R.5
Lubs, H.A.6
Martinez, F.7
Simensen, R.J.8
Stevenson, R.E.9
Pegg, A.E.10
-
35
-
-
34547511449
-
Deletion of the orphan nuclear receptor COUP-TFII in uterus leads to placental deficiency
-
Petit F.G., Jamin S.P., Kurihara I., Behringer R.R., Demayo F.J., Tsai M.J., and Tsai S.Y. Deletion of the orphan nuclear receptor COUP-TFII in uterus leads to placental deficiency. Proc. Natl. Acad. Sci. USA 104 (2007) 6293-6298
-
(2007)
Proc. Natl. Acad. Sci. USA
, vol.104
, pp. 6293-6298
-
-
Petit, F.G.1
Jamin, S.P.2
Kurihara, I.3
Behringer, R.R.4
Demayo, F.J.5
Tsai, M.J.6
Tsai, S.Y.7
|