4.6 Article

Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray

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。
Article Medicine, General & Internal

Association between microdeletion and microduplication at 16p11.2 and autism

Lauren A. Weiss et al.

NEW ENGLAND JOURNAL OF MEDICINE (2008)

Article Biochemistry & Molecular Biology

Recurrent 16p11.2 microdeletions in autism

Ravinesh A. Kumar et al.

HUMAN MOLECULAR GENETICS (2008)

Article Genetics & Heredity

The identification of microdeletion syndromes and other chromosome abnormalities: Cytogenetic methods of the past, new technologies for the future

Lisa G. Shaffer et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2007)

Article Biochemistry & Molecular Biology

Guidelines for molecular karyotyping in constitutional genetic diagnosis

Joris Robert Vermeesch et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2007)

Article Genetics & Heredity

Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism

Christa Lese Martin et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2007)

Article Genetics & Heredity

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2

Blake C. Ballif et al.

NATURE GENETICS (2007)

Letter Genetics & Heredity

An inherited atypical 1 Mb 22q11.2 deletion within the DGS/VCFS 3 Mb region in a child with obesity and aggressive behavior

Carla S. D'Angelo et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)

Review Genetics & Heredity

MECP2 mutations in males

Laurent Villard

JOURNAL OF MEDICAL GENETICS (2007)

Article Biotechnology & Applied Microbiology

Resolving the resolution of array CGH

Bradley P. Coe et al.

GENOMICS (2007)

Article Genetics & Heredity

Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1

E. Rajcan-Separovic et al.

JOURNAL OF MEDICAL GENETICS (2007)

Article Genetics & Heredity

A comprehensive analysis of common copy-number variations in the human genome

Kendy K. Wong et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2007)

Article Multidisciplinary Sciences

Global variation in copy number in the human genome

Richard Redon et al.

NATURE (2006)

Review Pathology

Application of array-based comparative genomic hybridization to clinical diagnostics

Bassem A. Bejjani et al.

JOURNAL OF MOLECULAR DIAGNOSTICS (2006)

Article Biochemical Research Methods

The UCSC Known Genes

F Hsu et al.

BIOINFORMATICS (2006)

Article Genetics & Heredity

A high-resolution survey of deletion polymorphism in the human genome

DF Conrad et al.

NATURE GENETICS (2006)

Article Genetics & Heredity

Diagnostic genome profiling in mental retardation

BBA de Vries et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2005)

Review Genetics & Heredity

Directly transmitted unbalanced chromosome abnormalities and euchromatic variants

JCK Barber

JOURNAL OF MEDICAL GENETICS (2005)

Article Genetics & Heredity

Fine-scale structural variation of the human genome

E Tuzun et al.

NATURE GENETICS (2005)

Article Genetics & Heredity

Segmental duplications and copy-number variation in the human genome

AJ Sharp et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2005)

Article Genetics & Heredity

Array comparative genomic hybridization and its applications in cancer

D Pinkel et al.

NATURE GENETICS (2005)

Review Biochemistry & Molecular Biology

Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease

CJ Shaw et al.

HUMAN MOLECULAR GENETICS (2004)

Article Genetics & Heredity

A tiling resolution DNA microarray with complete coverage of the human genome

AS Ishkanian et al.

NATURE GENETICS (2004)

Article Genetics & Heredity

Detection of large-scale variation in the human genome

AJ Iafrate et al.

NATURE GENETICS (2004)

Article Multidisciplinary Sciences

Comparative genomic hybridization using oligonucleotide microarrays and total genomic DNA

MT Barrett et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)

Article Multidisciplinary Sciences

Large-scale copy number polymorphism in the human genome

J Sebat et al.

SCIENCE (2004)

Article Biochemistry & Molecular Biology

A set of BAC clones spanning the human genome

M Krzywinski et al.

NUCLEIC ACIDS RESEARCH (2004)

Article Cardiac & Cardiovascular Systems

Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease

J Christiansen et al.

CIRCULATION RESEARCH (2004)

Article Biochemistry & Molecular Biology

Integration of the cytogenetic map with the draft human genome sequence

TS Furey et al.

HUMAN MOLECULAR GENETICS (2003)

Article Biochemistry & Molecular Biology

The UCSC Genome Browser Database

D Karolchik et al.

NUCLEIC ACIDS RESEARCH (2003)

Article Genetics & Heredity

Molecular rulers for calibrating phenotypic effects of telomere imbalance

CL Martin et al.

JOURNAL OF MEDICAL GENETICS (2002)

Article Genetics & Heredity

Assembly of microarrays for genome-wide measurement of DNA copy number.

AM Snijders et al.

NATURE GENETICS (2001)

Article Biochemistry & Molecular Biology

Segmental duplications: Organization and impact within the current Human Genome Project assembly

JA Bailey et al.

GENOME RESEARCH (2001)

Review Multidisciplinary Sciences

Initial sequencing and analysis of the human genome

ES Lander et al.

NATURE (2001)

Article Biochemistry & Molecular Biology

Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16

RJ Daniels et al.

HUMAN MOLECULAR GENETICS (2001)

Article Genetics & Heredity

An optimized set of human telomere clones for studying telomere integrity and architecture

SJL Knight et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2000)