-
1
-
-
0025325653
-
Prenatal identification of a girl with a t(X;4)(p21;q35) translocation: Molecular characterisation, paternal origin, and association with muscular dystrophy
-
Bodrug S. E., Roberson J. R., Weiss L., Ray P. N., Worton R. G. and van Dyke D. L. 1990 Prenatal identification of a girl with a t(X; 4)(p21; q35) translocation: molecular characterisation, paternal origin, and association with muscular dystrophy. J. Med. Genet. 27, 426-432.
-
(1990)
J. Med. Genet.
, vol.27
, pp. 426-432
-
-
Bodrug, S.E.1
Roberson, J.R.2
Weiss, L.3
Ray, P.N.4
Worton, R.G.5
van Dyke, D.L.6
-
2
-
-
0022577294
-
Prenatal diagnosis and follow-up of a child with a complex chromosome rearrangement
-
Bogart M. H., Bradshaw C. L., Jones O. W. and Schanberger J. E. 1986 Prenatal diagnosis and follow-up of a child with a complex chromosome rearrangement. J. Med. Genet. 23, 180-183.
-
(1986)
J. Med. Genet.
, vol.23
, pp. 180-183
-
-
Bogart, M.H.1
Bradshaw, C.L.2
Jones, O.W.3
Schanberger, J.E.4
-
3
-
-
35948956330
-
Complex balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) and two microdeletions del(1) (p31.1p31.1) and del (7) (p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retardation
-
Borg K., Nowakowska B., Obersztyn E., Cheung S. W., Brycz-Witkowska J., Korniszewski L. et al. 2007 Complex balanced translocation t(1; 5; 7)(p32. 1; q14. 3; p21. 3) and two microdeletions del(1) (p31. 1p31. 1) and del (7) (p14. 1p14. 1) in a patient with features of Greig cephalopolysyndactyly and mental retardation. Am. J. Med. Genet. Part A143A, 2738-2743.
-
(2007)
Am. J. Med. Genet. Part A
, vol.143 A
, pp. 2738-2743
-
-
Borg, K.1
Nowakowska, B.2
Obersztyn, E.3
Cheung, S.W.4
Brycz-Witkowska, J.5
Korniszewski, L.6
-
4
-
-
33344456106
-
Prenatal diagnosis of de novo t(2;18;14) (q33.1;q12.2; q31.2),dup (5) (q34q34),del (7)(p21.1p21.1), and del (10) (q25. 3q25.3) and a review of the prenatally ascertained de novo apparently balanced complex and multiple chromosomal rearrangements
-
Chen C., Chern S., Lee C., Lin C., Li Y., Hsieh L. et al. 2006 Prenatal diagnosis of de novo t(2; 18; 14) (q33. 1; q12. 2; q31. 2), dup (5) (q34q34), del (7)(p21. 1p21. 1), and del (10) (q25. 3q25. 3) and a review of the prenatally ascertained de novo apparently balanced complex and multiple chromosomal rearrangements. Prenat. Diagn. 26, 138-146.
-
(2006)
Prenat. Diagn.
, vol.26
, pp. 138-146
-
-
Chen, C.1
Chern, S.2
Lee, C.3
Lin, C.4
Li, Y.5
Hsieh, L.6
-
5
-
-
23744491866
-
Development and validation of a CGH microarray for clinical cytogenetic diagnosis
-
Cheung S. W., Shaw C. A., Yu W., Li J., Ou Z., Patel A. et al. 2005 Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet. Med. 7, 422-432.
-
(2005)
Genet. Med.
, vol.7
, pp. 422-432
-
-
Cheung, S.W.1
Shaw, C.A.2
Yu, W.3
Li, J.4
Ou, Z.5
Patel, A.6
-
6
-
-
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., Ling N. G., Douglas E. J. et al. 2005 The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes. J. Med. Genet. 42, 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
Ling, N.G.5
Douglas, E.J.6
-
7
-
-
18544391142
-
Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome
-
Hearn T., Renforth G. L., Spalluto C., Hanley N. A., Piper K., Brickwood S. et al. 2002 Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome. Nat. Genet. 31, 79-83.
-
(2002)
Nat. Genet.
, vol.31
, pp. 79-83
-
-
Hearn, T.1
Renforth, G.L.2
Spalluto, C.3
Hanley, N.A.4
Piper, K.5
Brickwood, S.6
-
8
-
-
0023803572
-
Complex chromosomal rearrangement in a woman with multiple miscarriages
-
Kausch K., Haaf T., Köhler J. and Schmid M. 1988 Complex chromosomal rearrangement in a woman with multiple miscarriages. Am. J. Med. Genet. 31, 415-420.
-
(1988)
Am. J. Med. Genet.
, vol.31
, pp. 415-420
-
-
Kausch, K.1
Haaf, T.2
Köhler, J.3
Schmid, M.4
-
9
-
-
11144339384
-
Long-range control of gene expression: Emerging mechanisms and disruption in disease
-
Kleinjan D. A. and van Heyningen V. 2005 Long-range control of gene expression: emerging mechanisms and disruption in disease. Am. J. Hum. Genet. 76, 8-32.
-
(2005)
Am. J. Hum. Genet.
, vol.76
, pp. 8-32
-
-
Kleinjan, D.A.1
van Heyningen, V.2
-
10
-
-
0027537083
-
Complex chromosomal rearrangement with ankyloblepharon filiforme adnatum
-
Kousseff B. G., Papenhausen P., Essig Y. P. and Torres M. P. 1993 Complex chromosomal rearrangement with ankyloblepharon filiforme adnatum. J. Med. Genet. 30, 167-170.
-
(1993)
J. Med. Genet.
, vol.30
, pp. 167-170
-
-
Kousseff, B.G.1
Papenhausen, P.2
Essig, Y.P.3
Torres, M.P.4
-
11
-
-
0037159479
-
Usefulness of high resolution comparative genomic hybridization (CGH) for detecting and characterizing constitutional chromosome abnormalities
-
Ness G. O., Lybaek H. and Houge G. 2002 Usefulness of high resolution comparative genomic hybridization (CGH) for detecting and characterizing constitutional chromosome abnormalities. Am. J. Med. Genet. 113, 125-136.
-
(2002)
Am. J. Med. Genet.
, vol.113
, pp. 125-136
-
-
Ness, G.O.1
Lybaek, H.2
Houge, G.3
-
12
-
-
0019121059
-
Complex chromosome rearrangements. Report of a new case and literature review
-
Pai G. S., Thomas G. H., Mahoney W. and Migeon B. R. 1980 Complex chromosome rearrangements. Report of a new case and literature review. Clin. Genet. 18, 436-444.
-
(1980)
Clin. Genet.
, vol.18
, pp. 436-444
-
-
Pai, G.S.1
Thomas, G.H.2
Mahoney, W.3
Migeon, B.R.4
-
13
-
-
0032730123
-
Analysis of a de novo complex chromosome rearrangement involving chromosomes 4, 11, 12 and 13 and eight breakpoints by conventional cytogenetic, fluorescence in situ hybridization and spectral karyotyping
-
Peschka B., Leygraaf J., Hansmann D., Hansmann M., Schrök E., Ried T. et al. 1999 Analysis of a de novo complex chromosome rearrangement involving chromosomes 4, 11, 12 and 13 and eight breakpoints by conventional cytogenetic, fluorescence in situ hybridization and spectral karyotyping. Prenat. Diagn. 19, 1143-1149.
-
(1999)
Prenat. Diagn.
, vol.19
, pp. 1143-1149
-
-
Peschka, B.1
Leygraaf, J.2
Hansmann, D.3
Hansmann, M.4
Schrök, E.5
Ried, T.6
-
14
-
-
2442686701
-
A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly
-
Pichon B., Vankerckhove S., Bourrouillou G., Duprez L. and Abramowicz M. J. 2004 A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly. Eur. J. Hum. Genet. 12, 419-421.
-
(2004)
Eur. J. Hum. Genet.
, vol.12
, pp. 419-421
-
-
Pichon, B.1
Vankerckhove, S.2
Bourrouillou, G.3
Duprez, L.4
Abramowicz, M.J.5
-
15
-
-
17144375306
-
Array CGH detection of a cryptic deletion in a complex chromosome rearrangement
-
Rosenberg C., Knijnenburg J., Chauffaille M. L., Brunoni D., Catelani A. L., Sloos W. et al. 2005 Array CGH detection of a cryptic deletion in a complex chromosome rearrangement. Hum. Genet. 116, 390-394.
-
(2005)
Hum. Genet.
, vol.116
, pp. 390-394
-
-
Rosenberg, C.1
Knijnenburg, J.2
Chauffaille, M.L.3
Brunoni, D.4
Catelani, A.L.5
Sloos, W.6
-
16
-
-
4444238226
-
Elucidation of a cryptic interstitial 7q31. 3 deletion in a patient with a language disorder and mild mental retardation by array-CGH
-
Tyson C., McGillivray B., Chijiwa C. and Rajcan-Separovic E. 2004 Elucidation of a cryptic interstitial 7q31. 3 deletion in a patient with a language disorder and mild mental retardation by array-CGH. Am. J. Med. Genet. Part A129A, 254-260.
-
(2004)
Am. J. Med. Genet. Part A
, vol.129 A
, pp. 254-260
-
-
Tyson, C.1
McGillivray, B.2
Chijiwa, C.3
Rajcan-Eparovic, E.4
-
17
-
-
23744514147
-
A girl with pervasive developmental disorder and complex chromosome rearrangement involving 8p and 10p
-
Zwaigenbaum L., Sonnenberg L. K., Heshka T., Eastwood S. and Xu J. 2005 A girl with pervasive developmental disorder and complex chromosome rearrangement involving 8p and 10p. J. Autism. Dev. Disord. 35, 393-399.
-
(2005)
J. Autism. Dev. Disord.
, vol.35
, pp. 393-399
-
-
Zwaigenbaum, L.1
Sonnenberg, L.K.2
Heshka, T.3
Eastwood, S.4
Xu, J.5
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