-
1
-
-
0020526912
-
The frequency and mutation rate of balanced autosomal rearrangements in man estimated from prenatal genetic studies for advanced maternal age
-
D. Van Dyke, L. Weiss, J. Roberson, and V. Babu The frequency and mutation rate of balanced autosomal rearrangements in man estimated from prenatal genetic studies for advanced maternal age Am J Hum Genet 35 1983 301 308 (Pubitemid 13111125)
-
(1983)
American Journal of Human Genetics
, vol.35
, Issue.2
, pp. 301-308
-
-
Van Dyke, D.L.1
Weiss, L.2
Roberson, J.R.3
Ramesh Babu, V.4
-
2
-
-
37049012895
-
Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation
-
DOI 10.1002/pd.1841
-
M.J. Simovich, S.A. Yatsenko, S.H.L. Kang, S.W. Cheung, M.E. Dudek, and A. Pursley Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation Prenat Diagn 27 2007 1112 1117 (Pubitemid 350250585)
-
(2007)
Prenatal Diagnosis
, vol.27
, Issue.12
, pp. 1112-1117
-
-
Simovich, M.J.1
Yatsenko, S.A.2
Kang, S.-H.L.3
Cheung, S.W.4
Dudek, M.E.5
Pursley, A.6
Ward, P.A.7
Patel, A.8
Lupski, J.R.9
-
3
-
-
7244255981
-
Detection of an interstitial deletion of 2q21-22 by high resolution comparative genomic hybridization in a child with multiple congenital anomalies and an apparent balanced translocation
-
DOI 10.1002/ajmg.a.30311
-
A.L. Shanske, L. Edelmann, N.B. Kardon, P. Gosset, and B. Levy Detection of an interstitial deletion of 2q21-22 by high resolution comparative genomic hybridization in a child with multiple congenital anomalies and an apparent balanced translocation Am J Med Genet 131A 2004 29 35 (Pubitemid 39434791)
-
(2004)
American Journal of Medical Genetics
, vol.A131
, Issue.1
, pp. 29-35
-
-
Shanske, A.L.1
Edelmann, L.2
Kardon, N.B.3
Gosset, P.4
Levy, B.5
-
4
-
-
1942476904
-
Detection of deletions in de novo 'balanced' chromosome rearrangements: Further evidence for their role in phenotypic abnormalities
-
DOI 10.1097/01.GIM.0000117850.04443.C9
-
C. Astbury, L.A. Christ, D.J. Aughton, S.B. Cassidy, A. Kumar, and E.E. Eichler Detection of deletions in de novo "balance" chromosome rearrangements: further evidence for their role in phenotypic abnormalities Gene Med 6 2004 81 89 (Pubitemid 38523675)
-
(2004)
Genetics in Medicine
, vol.6
, Issue.2
, 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
-
5
-
-
0034754559
-
High resolution comparative genomic hybridisation in clinical cytogenetics
-
M. Kirchhoff, H. Rose, and C. Lundsteen High resolution comparative genomic hybridization in clinical cytogenetics J Med Genet 38 2001 740 744 (Pubitemid 33032928)
-
(2001)
Journal of Medical Genetics
, vol.38
, Issue.11
, pp. 740-744
-
-
Kirchhoff, M.1
Rose, H.2
Lundsteen, C.3
-
6
-
-
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
-
I. Borg, M. Squire, C. Menzel, K. Stout, D. Morgan, and L. Willatt 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 (Pubitemid 34664971)
-
(2002)
Journal of Medical Genetics
, vol.39
, Issue.6
, 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.M.7
Ferguson-Smith, M.A.8
Ropers, H.H.9
Tommerup, N.10
Kalscheuer, V.M.11
Sargan, D.R.12
-
7
-
-
27944474013
-
Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a ∼0.5-Mb submicroscopic deletion in a patient with mild mental retardation
-
DOI 10.1007/s00439-005-0021-0
-
K. Borg, P. Stankiewicz, E. Bocian, A. Kruczek, E. Obersztyn, and J. Lupski Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a ∼0.5-Mb submicroscopic deletion in a patient with mild mental retardation Hum Genet 118 2005 267 275 (Pubitemid 41672089)
-
(2005)
Human Genetics
, vol.118
, Issue.2
, pp. 267-275
-
-
Borg, K.1
Stankiewicz, P.2
Bocian, E.3
Kruczek, A.4
Obersztyn, E.5
Lupski, J.R.6
Mazurczak, T.7
-
8
-
-
9144240478
-
Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal Abnormalities
-
DOI 10.1086/379977
-
L. Vissers, B. de Vries, K. Osoegawa, I. Janssen, T. Feuth, and C. Choy Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities Am J Hum Genet 73 2003 1261 1270 (Pubitemid 38037420)
-
(2003)
American Journal of Human Genetics
, vol.73
, Issue.6
, pp. 1261-1270
-
-
Vissers, L.E.L.M.1
De Vries, B.B.A.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.L.P.G.9
Van Rijk, A.10
Smeets, D.11
Van Ravenswaaij-Arts, C.M.A.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.P.M.18
Veltman, J.A.19
-
9
-
-
4444238226
-
Elucidation of a cryptic interstitial 7q31.3 deletion in a patient with a language disorder and mild mental retardation by array-CGH
-
DOI 10.1002/ajmg.a.30245
-
C. Tyson, B. McGillivray, C. Chijiwa, and E. Rajcan-Separovic Elucidation of a cryptic interstitial 7q31.3 detection in a patient with a language disorder and mild mental retardation by array-CGH Am J Hum Genet Part A 129A 2004 254 260 (Pubitemid 39166190)
-
(2004)
American Journal of Medical Genetics
, vol.A129
, Issue.3
, pp. 254-260
-
-
Tyson, C.1
McGillivray, B.2
Chijiwa, C.3
Rajcan-Separovic, E.4
-
10
-
-
11144356173
-
Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features
-
C. Shaw-Smith, R. Redon, L. Rickman, M. Rio, L. Willatt, and H. Fiegler 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 2004 241 248 (Pubitemid 38496765)
-
(2004)
Journal of Medical Genetics
, vol.41
, Issue.4
, 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
-
11
-
-
19944432367
-
The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes
-
DOI 10.1136/jmg.2004.024141
-
S. Gribble, E. Prigmore, D. Burford, K. Porter, N. Bee Ling, and E. Douglas The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes J Med Genet 42 2005 8 16 (Pubitemid 40187115)
-
(2005)
Journal of Medical Genetics
, vol.42
, Issue.1
, 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
Sandstrom, R.11
Temple, I.K.12
Youings, S.A.13
Thomas, N.S.14
Dennis, N.R.15
Jacobs, P.A.16
Crolla, J.A.17
Carter, N.P.18
-
12
-
-
23744491866
-
Development and validation of a CGH microarray for clinical cytogenetic diagnosis
-
DOI 10.1097/01.GIM.0000170992.63691.32
-
S. Cheung, C. Shaw, W. Yu, J. Li, Z. Ou, and A. Patel Development and validation of a CGH microarray for clinical cytogenetic diagnosis Genet Med 7 2005 422 432 (Pubitemid 41139627)
-
(2005)
Genetics in Medicine
, vol.7
, Issue.6
, pp. 422-432
-
-
Cheung, S.W.1
Shaw, C.A.2
Yu, W.3
Li, J.4
Ou, Z.5
Patel, A.6
Yatsenko, S.A.7
Cooper, M.L.8
Furman, P.9
Stankiewicz, P.10
Lupski, J.R.11
Chinault, A.C.12
Beaudet, A.L.13
-
13
-
-
0030890169
-
Deletions of 20p12 in alagille syndrome: Frequency and molecular characterization
-
DOI 10.1002/(SICI)1096-8628(19970502)70:1<80::AID-AJMG15>3.0.CO;2-T
-
I.D. Krantz, E.B. Rand, A. Genin, P. Hunt, M. Jones, and A.A. Louis Deletions of 20p12 in Alagille syndrome: frequency and molecular characterization Am J Med Genet 70 1997 80 86 (Pubitemid 27183881)
-
(1997)
American Journal of Medical Genetics
, vol.70
, Issue.1
, pp. 80-86
-
-
Krantz, I.D.1
Rand, E.B.2
Genin, A.3
Hunt, P.4
Jones, M.5
Louis, A.A.6
Graham Jr., J.M.7
Bhatt, S.8
Piccoli, D.A.9
Spinner, N.B.10
-
14
-
-
0034221278
-
Identification of a larger than 3 Mb deletion including JAG1 in an Alagille syndrome patient with a translocation t(3;20)(q13.3;p12.2)
-
T. Oda, A.G. Elkahloun, P.S. Meltzer, K. Okajima, K. Sugiyama, and Y. Wada Identification of a larger than 3 Mb deletion including JAG1 in an Alagille syndrome patient with a translocation t(3;20)(q13.3;p12.2) Hum Mutat 16 2000 92
-
(2000)
Hum Mutat
, vol.16
, pp. 92
-
-
Oda, T.1
Elkahloun, A.G.2
Meltzer, P.S.3
Okajima, K.4
Sugiyama, K.5
Wada, Y.6
-
15
-
-
1842364574
-
Alagille syndrome with t(3;20)(q13.3;p12.2)
-
M. Hattori, Y. Miyake, T. Oda, K. Okajima, K. Mizuno, and K. Sugiyama Alagille syndrome with t(3;20)(q13.3;p12.2) Nippon Shonika Gakkai Zasshi 99 1995 1984 1986
-
(1995)
Nippon Shonika Gakkai Zasshi
, vol.99
, pp. 1984-1986
-
-
Hattori, M.1
Miyake, Y.2
Oda, T.3
Okajima, K.4
Mizuno, K.5
Sugiyama, K.6
-
16
-
-
77955162240
-
Accurate single cell 24 chromosome aneuploidy screening using whole genome amplification and single nucleotide polymorphism microarrays
-
N.R. Treff, J. Su, X. Tao, B. Levy, and R.T. Scott Jr. Accurate single cell 24 chromosome aneuploidy screening using whole genome amplification and single nucleotide polymorphism microarrays Fertil Steril 94 2010 2017 2021
-
(2010)
Fertil Steril
, vol.94
, pp. 2017-2021
-
-
Treff, N.R.1
Su, J.2
Tao, X.3
Levy, B.4
Scott, Jr.R.T.5
-
17
-
-
79952987085
-
Single nucleotide polymorphism microarray-based concurrent screening of 24 chromosome aneuploidy and unbalanced translocations in preimplantation human embryos
-
1606-12.e2
-
N.R. Treff, L.E. Northrop, K. Kasabwala, J. Su, B. Levy, and R.T. Scott Jr. Single nucleotide polymorphism microarray-based concurrent screening of 24 chromosome aneuploidy and unbalanced translocations in preimplantation human embryos Fertil Steril 95 2011 1606-12.e2
-
(2011)
Fertil Steril
, vol.95
-
-
Treff, N.R.1
Northrop, L.E.2
Kasabwala, K.3
Su, J.4
Levy, B.5
Scott, Jr.R.T.6
-
18
-
-
77952575549
-
Robust embryo identification using first polar body single nucleotide polymorphism (SNP) microarray-based DNA fingerprinting
-
N.R. Treff, J. Su, N. Kasabwala, K.A. Miller, B. Levy, and R.T. Scott Robust embryo identification using first polar body single nucleotide polymorphism (SNP) microarray-based DNA fingerprinting Fertil Steril 93 2010 2453 2455
-
(2010)
Fertil Steril
, vol.93
, pp. 2453-2455
-
-
Treff, N.R.1
Su, J.2
Kasabwala, N.3
Miller, K.A.4
Levy, B.5
Scott, R.T.6
-
19
-
-
77957778886
-
Karyomapping: A universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes
-
A.H. Handyside, G.L. Harton, B. Mariani, A.R. Thornhill, N.A. Affara, and M.A. Shaw Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes J Med Genet 47 2010 651 658
-
(2010)
J Med Genet
, vol.47
, pp. 651-658
-
-
Handyside, A.H.1
Harton, G.L.2
Mariani, B.3
Thornhill, A.R.4
Affara, N.A.5
Shaw, M.A.6
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