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。European guidelines for constitutional cytogenomic analysis
Marisa Silva et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2019)
Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome
Ryan L. Collins et al.
GENOME BIOLOGY (2017)
Angelman syndrome - insights into a rare neurogenetic disorder
Karin Buiting et al.
NATURE REVIEWS NEUROLOGY (2016)
Human inversions and their functional consequences
Marta Puig et al.
BRIEFINGS IN FUNCTIONAL GENOMICS (2015)
A Common 16p11.2 Inversion Underlies the Joint Susceptibility to Asthma and Obesity
Juan R. Gonzalez et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
Inversion of exons 1-7 of the MSH2 gene is a frequent cause of unexplained Lynch syndrome in one local population
Jennifer Rhees et al.
FAMILIAL CANCER (2014)
Genome-wide association tests of inversions with application to psoriasis
Jianzhong Ma et al.
HUMAN GENETICS (2014)
InvFEST, a database integrating information of polymorphic inversions in the human genome
Alexander Martinez-Fundichely et al.
NUCLEIC ACIDS RESEARCH (2014)
Sequencing of a Patient with Balanced Chromosome Abnormalities and Neurodevelopmental Disease Identifies Disruption of Multiple High Risk Loci by Structural Variation
Jonathon Blake et al.
PLOS ONE (2014)
Detection of Chromosomal Breakpoints in Patients with Developmental Delay and Speech Disorders
Kagistia H. Utami et al.
PLOS ONE (2014)
The Effect of Inversion at 8p23 on BLK Association with Lupus in Caucasian Population
Bahram Namjou et al.
PLOS ONE (2014)
X-Linked Deafness-2 (DFNX2) Phenotype Associated With a Paracentric Inversion Upstream of POU3F4
Gregory J. Anger et al.
AMERICAN JOURNAL OF AUDIOLOGY (2014)
A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications
Jana Drabova et al.
MOLECULAR CYTOGENETICS (2014)
Validation and Genotyping of Multiple Human Polymorphic Inversions Mediated by Inverted Repeats Reveals a High Degree of Recurrence
Cristina Aguado et al.
PLOS GENETICS (2014)
Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2
Matthew L. Jones et al.
BMC MEDICAL GENETICS (2013)
Low-copy repeats at the human VIPR2 gene predispose to recurrent and nonrecurrent rearrangements
Silvana Beri et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2013)
Mechanisms of Formation of Structural Variation in a Fully Sequenced Human Genome
Andy Wing Chun Pang et al.
HUMAN MUTATION (2013)
Common inversion polymorphism at 17q21.31 affects expression of multiple genes in tissue-specific manner
Simone de Jong et al.
BMC GENOMICS (2012)
An Inv(16)(p13.3q24.3)-Encoded CBFA2T3-GLIS2 Fusion Protein Defines an Aggressive Subtype of Pediatric Acute Megakaryoblastic Leukemia
Tanja A. Gruber et al.
CANCER CELL (2012)
The origin, global distribution, and functional impact of the human 8p23 inversion polymorphism
Maximilian P. A. Salm et al.
GENOME RESEARCH (2012)
Structural diversity and African origin of the 17q21.31 inversion polymorphism
Karyn Meltz Steinberg et al.
NATURE GENETICS (2012)
Enhancer-adoption as a mechanism of human developmental disease
Laura A. Lettice et al.
HUMAN MUTATION (2011)
Inversion of the Williams Syndrome Region Is a Common Polymorphism Found More Frequently in Parents of Children With Williams Syndrome
Holly H. Hobart et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2010)
Deletion of an enhancer near DLX5 and DLX6 in a family with hearing loss, craniofacial defects, and an inv(7)(q21.3q35)
Kerry K. Brown et al.
HUMAN GENETICS (2010)
Chromosomal speciation revisited: rearranging theory with pieces of evidence
Rui Faria et al.
TRENDS IN ECOLOGY & EVOLUTION (2010)
No significantly increased frequency of the inversion polymorphism at the WBS-critical region 7q11.23 in German parents of patients with Williams-Beuren syndrome as compared to a population control
Judith Frohnauer et al.
MOLECULAR CYTOGENETICS (2010)
How and Why Chromosome Inversions Evolve
Mark Kirkpatrick
PLOS BIOLOGY (2010)
A Chromosome 10 Variant With a 12 Mb Inversion [inv(10)(q11.22q21.1)] Identical by Descent and Frequent in the Swedish Population
Miriam Entesarian et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
CHROMOSOMAL INVERSIONS AND SPECIES DIFFERENCES: WHEN ARE GENES AFFECTING ADAPTIVE DIVERGENCE AND REPRODUCTIVE ISOLATION EXPECTED TO RESIDE WITHIN INVERSIONS?
Jeffrey L. Feder et al.
EVOLUTION (2009)
Islands of speciation or mirages in the desert? Examining the role of restricted recombination in maintaining species
M. A. F. Noor et al.
HEREDITY (2009)
Characterization of six human disease-associated inversion polymorphisms
Francesca Antonacci et al.
HUMAN MOLECULAR GENETICS (2009)
Mapping and sequencing of structural variation from eight human genomes (Reprinted from Nature, vol 453, pg 56-64, 2008)
Jeffrey M. Kidd et al.
NATURE GENETICS (2009)
Nucleotide, Cytogenetic and Expression Impact of the Human Chromosome 8p23.1 Inversion Polymorphism
Nina Bosch et al.
PLOS ONE (2009)
High-resolution mapping of heterochromatin redistribution in a Drosophila position-effect variegation model
Maartje J. Vogel et al.
EPIGENETICS & CHROMATIN (2009)
Role of the Tau Gene Region Chromosome Inversion in Progressive Supranuclear Palsy, Corticobasal Degeneration, and Related Disorders
Amy Webb et al.
ARCHIVES OF NEUROLOGY (2008)
Defensins and the dynamic genome: What we can learn from structural variation at human chromosome band 8p23.1
Edward J. Hollox et al.
GENOME RESEARCH (2008)
Investigation of the origins of human autosomal inversions
N. Simon Thomas et al.
HUMAN GENETICS (2008)
An Unusual Haplotype Structure on Human Chromosome 8p23 Derived From the Inversion Polymorphism
Libin Deng et al.
HUMAN MUTATION (2008)
Evolutionary toggling of the MAPT 17q21.31 inversion region
Michael C. Zody et al.
NATURE GENETICS (2008)
Mapping and sequencing of structural variation from eight human genomes
Jeffrey M. Kidd et al.
NATURE (2008)
A survey of genetic human cortical gene expression
Amanda J. Myers et al.
NATURE GENETICS (2007)
Paired-end mapping reveals extensive structural variation in the human genome
Jan O. Korbel et al.
SCIENCE (2007)
Identification of the transforming EML4-ALK fusion gene in non-small-cell lung cancer
Manabu Soda et al.
NATURE (2007)
Evidence for large inversion polymorphisms in the human genome from HapMap data
Vikas Bansal et al.
GENOME RESEARCH (2007)
On the association between chromosomal rearrangements and genic evolution in humans and chimpanzees
Tomas Marques-Bonet et al.
GENOME BIOLOGY (2007)
Chromosomal speciation of humans and chimpanzees revisited: studies of DNA divergence within inverted regions
J. M. Szamalek et al.
CYTOGENETIC AND GENOME RESEARCH (2007)
Untangling the tau gene association with neurodegenerative disorders
Alan M. Pittman et al.
HUMAN MOLECULAR GENETICS (2006)
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism
David A. Koolen et al.
NATURE GENETICS (2006)
Assaying chromosomal inversions by single-molecule haplotyping
Daniel J. Turner et al.
NATURE METHODS (2006)
Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)( p11.2q21.2) mutation among northern Europeans
M Gilling et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies
L Feuk et al.
PLOS GENETICS (2005)
The H1c haplotype at the MAPT locus is associated with Alzheimer's disease
AJ Myers et al.
HUMAN MOLECULAR GENETICS (2005)
Chromosomal rearrangements are associated with higher rates of molecular evolution in mammals
T Marques-Bonet et al.
GENE (2005)
Fine-scale structural variation of the human genome
E Tuzun et al.
NATURE GENETICS (2005)
Evolution versus constitution: differences in chromosomal inversion
S Schmidt et al.
HUMAN GENETICS (2005)
A common inversion under selection in Europeans
H Stefansson et al.
NATURE GENETICS (2005)
Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-mb microdeletion
R Visser et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Chromosomal rearrangements and the genomic distribution of gene-expression divergence in humans and chimpanzees
T Marqués-Bonet et al.
TRENDS IN GENETICS (2004)
The tau H2 haplotype is almost exclusively Caucasian in origin
W Evans et al.
NEUROSCIENCE LETTERS (2004)
Linkage disequilibrium and association of MAPT H1 in Parkinson disease
L Skipper et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Testing the chromosomal speciation hypothesis for humans and chimpanzees
JZ Zhang et al.
GENOME RESEARCH (2004)
Speciation and inversions: chimps and humans
J Hey
BIOESSAYS (2003)
Mutational mechanisms of Williams-Beuren syndrome deletions
M Bayés et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions
G Gimelli et al.
HUMAN MOLECULAR GENETICS (2003)
Chromosomal speciation and molecular divergence - Accelerated evolution in rearranged chromosomes
A Navarro et al.
SCIENCE (2003)
Slow molecular clocks in Old World monkeys, apes, and humans
SJ Yi et al.
MOLECULAR BIOLOGY AND EVOLUTION (2002)
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation
S Giglio et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Association between the extended tau haplotype and frontotemporal dementia
P Verpillat et al.
ARCHIVES OF NEUROLOGY (2002)
Genomewide comparison of DNA sequences between humans and chimpanzees
I Ebersberger et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome
LR Osborne et al.
NATURE GENETICS (2001)
Chromosomal inversions and the reproductive isolation of species
MAF Noor et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2001)
Chromosomal rearrangements and speciation
LH Rieseberg
TRENDS IN ECOLOGY & EVOLUTION (2001)
Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements
S Giglio et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
The degeneration of Y chromosomes
B Charlesworth et al.
PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES (2000)