Identification of Copy Number Variants on Human Chromosome 22 in Patients with a Variety of Clinical Findings
出版年份 2011 全文链接
标题
Identification of Copy Number Variants on Human Chromosome 22 in Patients with a Variety of Clinical Findings
作者
关键词
-
出版物
CYTOGENETIC AND GENOME RESEARCH
Volume 134, Issue 4, Pages 260-268
出版商
S. Karger AG
发表日期
2011-08-17
DOI
10.1159/000330123
参考文献
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。- Mapping copy number variation by population-scale genome sequencing
- (2011) Ryan E. Mills et al. NATURE
- Common recurrent microduplication syndromes: Diagnosis and management in clinical practice
- (2010) Jonathan S. Berg et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- A Human Genome Structural Variation Sequencing Resource Reveals Insights into Mutational Mechanisms
- (2010) Jeffrey M. Kidd et al. CELL
- Genomic profile of copy number variants on the short arm of human chromosome 8
- (2010) Shihui Yu et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Congenital Hypotonia in a Child With a De Novo 22q13 Monosomy and 2pter Duplication: A Clinical and Molecular Genetic Study
- (2010) Antonio Trabacca et al. JOURNAL OF CHILD NEUROLOGY
- Validation of the Agilent 244K Oligonucleotide Array–Based Comparative Genomic Hybridization Platform for Clinical Cytogenetic Diagnosis
- (2009) Shihui Yu et al. AMERICAN JOURNAL OF CLINICAL PATHOLOGY
- Further case of Rubinstein-Taybi syndrome due to a deletion in EP300
- (2009) Patricia Foley et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Goldenhar phenotype in a child with distal 22q11.2 deletion and intracranial atypical teratoid rhabdoid tumor
- (2009) Lucie Lafay-Cousin et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Recurrent Rearrangements in Synaptic and Neurodevelopmental Genes and Shared Biologic Pathways in Schizophrenia, Autism, and Mental Retardation
- (2009) Audrey Guilmatre et al. ARCHIVES OF GENERAL PSYCHIATRY
- A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review
- (2009) Luis Fernández et al. BMC Medical Genetics
- BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1
- (2009) Anna Brunet et al. BMC Medical Genetics
- Duplication hotspots, rare genomic disorders, and common disease
- (2009) Heather C Mefford et al. CURRENT OPINION IN GENETICS & DEVELOPMENT
- Benign and pathogenic copy number variation on the short arm of chromosome 4
- (2009) F. Hannes et al. CYTOGENETIC AND GENOME RESEARCH
- Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH
- (2009) D.C. Bittel et al. CYTOGENETIC AND GENOME RESEARCH
- Microduplication 22q11.2: A new chromosomal syndrome
- (2009) Marie-France Portnoï European Journal of Medical Genetics
- Quantitative Real-Time Polymerase Chain Reaction for the Verification of Genomic Imbalances Detected by Microarray-Based Comparative Genomic Hybridization
- (2009) Shihui Yu et al. Genetic Testing and Molecular Biomarkers
- Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region
- (2009) J. Coppinger et al. HUMAN MOLECULAR GENETICS
- Origins and functional impact of copy number variation in the human genome
- (2009) Donald F. Conrad et al. NATURE
- MAP'ing CNS Development and Cognition: An ERKsome Process
- (2009) Ivy S. Samuels et al. NEURON
- A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation
- (2009) P. J. Hastings et al. PLoS Genetics
- 22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome
- (2008) Shay Ben-Shachar et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome
- (2008) Valérie Bélien et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Novel de novo SHANK3 mutation in autistic patients
- (2008) Julie Gauthier et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
- PRODH variants and risk for schizophrenia
- (2008) Alecia Willis et al. AMINO ACIDS
- Deletion 22q13.3 syndrome
- (2008) Mary C Phelan Orphanet Journal of Rare Diseases
- Small Deletion Variants Have Stable Breakpoints Commonly Associated with Alu Elements
- (2008) Adam J. de Smith et al. PLoS One
- Finishing the finished human chromosome 22 sequence
- (2008) Charlotte G Cole et al. GENOME BIOLOGY
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started