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。DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
Helen V. Firth et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
FOXL2 Mutations and Genomic Rearrangements in BPES
Diane Beysen et al.
HUMAN MUTATION (2009)
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence
Sabina Benko et al.
NATURE GENETICS (2009)
Meeting DNA palindromes head-to-head
Gerald R. Smith
GENES & DEVELOPMENT (2008)
A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb
Dominic Furniss et al.
HUMAN MOLECULAR GENETICS (2008)
Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein
Yongsu Jeong et al.
NATURE GENETICS (2008)
Disruption of an AP-2α binding site in an IRF6 enhancer is associated with cleft lip
Fedik Rahimov et al.
NATURE GENETICS (2008)
Ultraconservation identifies a small subset of extremely constrained developmental enhancers
Axel Visel et al.
NATURE GENETICS (2008)
miRDB: A microRNA target prediction and functional annotation database with a wiki interface
Xiaowei Wang
RNA (2008)
Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells
Catia Attanasio et al.
GENOME BIOLOGY (2008)
A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome
E. Klopocki et al.
JOURNAL OF MEDICAL GENETICS (2008)
Point mutations in a distant sonic hedgehog cis-regulator generate a variable regulatory output responsible for preaxial polydactyly
Laura A. Lettice et al.
HUMAN MOLECULAR GENETICS (2008)
Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer
M. Sun et al.
JOURNAL OF MEDICAL GENETICS (2008)
miRBase: tools for microRNA genomics
Sam Griffiths-Jones et al.
NUCLEIC ACIDS RESEARCH (2008)
NONCODE v2.0: decoding the non-coding
Shunmin He et al.
NUCLEIC ACIDS RESEARCH (2008)
miRNAMap 2.0: genomic maps of microRNAs in metazoan genomes
Sheng-Da Hsu et al.
NUCLEIC ACIDS RESEARCH (2008)
Clustal W and clustal X version 2.0
M. A. Larkin et al.
BIOINFORMATICS (2007)
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
Ewan Birney et al.
NATURE (2007)
Hairpin- and cruciform-mediated chromosome breakage: causes and consequences in eukaryotic cells
Kirill S. Lobachev et al.
FRONTIERS IN BIOSCIENCE-LANDMARK (2007)
qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data
Jan Hellemans et al.
GENOME BIOLOGY (2007)
RNAdb 2.0-an expanded database of mammalian non-coding RNAs
Ken C. Pang et al.
NUCLEIC ACIDS RESEARCH (2007)
Non-B DNA conformations, mutagenesis and disease
Robert D. Wells
TRENDS IN BIOCHEMICAL SCIENCES (2007)
In vivo enhancer analysis of human conserved non-coding sequences
Len A. Pennacchio et al.
NATURE (2006)
A systematic analysis of disease-associated variants in the 3′ regulatory regions of human protein-coding genes I:: general principles and overview
Jian-Min Chen et al.
HUMAN GENETICS (2006)
Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions
C Howald et al.
JOURNAL OF MEDICAL GENETICS (2006)
The three 'C's of chromosome conformation capture: controls, controls, controls
J Dekker
NATURE METHODS (2006)
Sequence variants in SLITRK1 are associated with Tourette's syndrome
JF Abelson et al.
SCIENCE (2005)
A novel class of pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis
S Benito-Sanz et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes
A Siepel et al.
GENOME RESEARCH (2005)
Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in Blepharophimosis syndrome
D Beysen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Identification of an unbalanced X-autosome translocation by array CGH in a boy with a syndromic form of chondrodysplasia punctata brachytelephalangic type
B Menten et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2005)
In vivo characterization of a vertebrate ultraconserved enhancer
F Poulin et al.
GENOMICS (2005)
Ovarian-specific expression of a new gene regulated by the goat PIS region and transcribed by a FOXL2 bidirectional promoter
M Pannetier et al.
GENOMICS (2005)
arrayCGHbase: an analysis platform for comparative genomic hybridization microarrays
B Menten et al.
BMC BIOINFORMATICS (2005)
Conserved non-genic sequences - an unexpected feature of mammalian genomes
ET Dermitzakis et al.
NATURE REVIEWS GENETICS (2005)
Long-range control of gene expression: Emerging mechanisms and disruption in disease
DA Kleinjan et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Highly conserved non-coding sequences are associated with vertebrate development
A Woolfe et al.
PLOS BIOLOGY (2005)
FOXL2 inactivation by a translocation 171 kb away:: analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequences
L Crisponi et al.
GENOMICS (2004)
Aligning multiple genomic sequences with the threaded blockset aligner
M Blanchette et al.
GENOME RESEARCH (2004)
Naturally occurring H-DNA-forming sequences are mutagenic in mammalian cells
GL Wang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
Detection of large-scale variation in the human genome
AJ Iafrate et al.
NATURE GENETICS (2004)
A novel insertion mutation in the FOXL2 gene is detected in a big Chinese family with blepharophimosis-ptosis-epicanthus inversus
XQ Qian et al.
MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS (2004)
Conserved patterns of gene expression in mice and goats in the vicinity of the Polled Intersex Syndrome (PIS) locus
S Nikic et al.
CHROMOSOME RESEARCH (2004)
Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs)
ET Dermitzakis et al.
SCIENCE (2003)
Scanning human gene deserts for long-range enhancers
MA Nobrega et al.
SCIENCE (2003)
A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly
LA Lettice et al.
HUMAN MOLECULAR GENETICS (2003)
mreps: efficient and flexible detection of tandem repeats in DNA
R Kolpakov et al.
NUCLEIC ACIDS RESEARCH (2003)
MATCH™:: a tool for searching transcription factor binding sites in DNA sequences
AE Kel et al.
NUCLEIC ACIDS RESEARCH (2003)
GALA, a database for genomic sequence alignments and annotations
B Giardine et al.
GENOME RESEARCH (2003)
DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones
H Fiegler et al.
GENES CHROMOSOMES & CANCER (2003)
TRANSFAC (R): transcriptional regulation, from patterns to profiles
V Matys et al.
NUCLEIC ACIDS RESEARCH (2003)
Translocation and gross deletion breakpolints in human inherited disease and cancer I: Nucleotide composition and recomblination-assocliated motifs
SS Abeysinghe et al.
HUMAN MUTATION (2003)
Numerous potentially functional but non-genic conserved sequences on human chromosome 21
ET Dermitzakis et al.
NATURE (2002)
A 11.7-kb deletion triggers intersexuality and polledness in goats
E Pailhoux et al.
NATURE GENETICS (2001)
A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA→AAUGAA) leads to the IPEX syndrome
CL Bennett et al.
IMMUNOGENETICS (2001)
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
L Crisponi et al.
NATURE GENETICS (2001)
Identification of BPESC1, a novel gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPES
E De Baere et al.
GENOMICS (2000)
Molecular cytogenetic evaluation in a patient with a translocation (3;21) associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)
V Praphanphoj et al.
GENOMICS (2000)
分享论文
