相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation
P. J. Hastings et al.
PLOS GENETICS (2009)
Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: A study of 5,380 cases
Lina Shao et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)
A 400 kb duplication, 2.4 Mb triplication and 130 kb duplication of 9q34.3 in a patient with severe mental retardation
Antoinet C. J. Gijsbers et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2008)
A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders
Jennifer A. Lee et al.
CELL (2007)
Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation
Marcia J. Simovich et al.
PRENATAL DIAGNOSIS (2007)
A second-generation combined linkage-physical map of the human genome
Tara C. Matise et al.
GENOME RESEARCH (2007)
Cryptic telomere imbalance: A 15-year update
David H. Ledbetter et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2007)
Adaptive amplification
P. J. Hastings
CRITICAL REVIEWS IN BIOCHEMISTRY AND MOLECULAR BIOLOGY (2007)
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome
M. C. Bonaglia et al.
JOURNAL OF MEDICAL GENETICS (2006)
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome
Tjitske Kleefstra et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
On the mechanism of gene amplification induced under stress in Escherichia coli
Andrew Slack et al.
PLOS GENETICS (2006)
Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly
SA Yatsenko et al.
JOURNAL OF MEDICAL GENETICS (2005)
9q34.3 deletion syndrome in three unrelated children
M Iwakoshi et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
Non-B DNA conformations, genomic rearrangements, and human disease
A Bacolla et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Monosomy 1p36 breakpoints indicate repetitive DNA sequence elements may be involved in generating and/or stabilizing some terminal deletions
BC Ballif et al.
CHROMOSOME RESEARCH (2004)
A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome
N Harada et al.
JOURNAL OF HUMAN GENETICS (2004)
Mfold web server for nucleic acid folding and hybridization prediction
M Zuker
NUCLEIC ACIDS RESEARCH (2003)
Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome
HA Heilstedt et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Genome architecture, rearrangements and genomic disorders
P Stankiewicz et al.
TRENDS IN GENETICS (2002)
FISHing for mechanisms of cytogenetically defined terminal deletions using chromosome-specific subtelomeric probes
BC Ballif et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2000)
Characterization of terminal deletions at 7q32 and 22q13.3 healed by de novo telomere addition
H Varley et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)