标题
Phenotypic variability and genetic susceptibility to genomic disorders
作者
关键词
-
出版物
HUMAN MOLECULAR GENETICS
Volume 19, Issue R2, Pages R176-R187
出版商
Oxford University Press (OUP)
发表日期
2010-09-01
DOI
10.1093/hmg/ddq366
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。- Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes
- (2010) Erin L. Heinzen et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
- (2010) David T. Miller et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A 15q13.3 homozygous microdeletion associated with a severe neurodevelopmental disorder suggests putative functions of theTRPM1,CHRNA7, and other homozygously deleted genes
- (2010) Jean-Baptiste LePichon et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Familial 3q29 microdeletion syndrome providing further evidence of involvement of the 3q29 region in bipolar disorder
- (2010) Jill Clayton-Smith et al. CLINICAL DYSMORPHOLOGY
- Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?
- (2010) Przemyslaw Szafranski et al. HUMAN MUTATION
- Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes
- (2010) D. L. Bruno et al. JOURNAL OF MEDICAL GENETICS
- Complete Khoisan and Bantu genomes from southern Africa
- (2010) Stephan C. Schuster et al. NATURE
- A new highly penetrant form of obesity due to deletions on chromosome 16p11.2
- (2010) R. G. Walters et al. NATURE
- Functional impact of global rare copy number variation in autism spectrum disorders
- (2010) Dalila Pinto et al. NATURE
- A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk
- (2010) Francesca Antonacci et al. NATURE GENETICS
- A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
- (2010) Santhosh Girirajan et al. NATURE GENETICS
- DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
- (2009) Helen V. Firth et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Genotypeâphenotype correlation in four 15q24 deleted patients identified by array-CGH
- (2009) Joris Andrieux et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- 3q29 microdeletion: A mental retardation disorder unassociated with a recognizable phenotype in two mother-daughter pairs
- (2009) Maria Cristina Digilio et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies
- (2009) C. G. F. de Kovel et al. BRAIN
- Three new patients with dup(17)(p11.2p11.2) without autism
- (2009) D Greco et al. CLINICAL GENETICS
- Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy
- (2009) A-M Bisgaard et al. CLINICAL GENETICS
- Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12
- (2009) Sandesh Chakravarthy Sreenath Nagamani et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader–Willi critical region, possibly associated with behavioural disturbances
- (2009) Marianne Doornbos et al. European Journal of Medical Genetics
- Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals
- (2009) E.K. Bijlsma et al. European Journal of Medical Genetics
- A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease
- (2009) H. C. Mefford et al. GENOME RESEARCH
- Characterization of six human disease-associated inversion polymorphisms
- (2009) Francesca Antonacci et al. HUMAN MOLECULAR GENETICS
- Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance
- (2009) L. M. Dibbens et al. HUMAN MOLECULAR GENETICS
- Support for the involvement of large copy number variants in the pathogenesis of schizophrenia
- (2009) George Kirov et al. HUMAN MOLECULAR GENETICS
- 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
- Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders
- (2009) S Ben-Shachar et al. JOURNAL OF MEDICAL GENETICS
- Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
- (2009) M. Shinawi et al. JOURNAL OF MEDICAL GENETICS
- Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome
- (2009) B W M van Bon et al. JOURNAL OF MEDICAL GENETICS
- Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment
- (2009) S C Sreenath Nagamani et al. JOURNAL OF MEDICAL GENETICS
- Large, rare chromosomal deletions associated with severe early-onset obesity
- (2009) Elena G. Bochukova et al. NATURE
- Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
- (2009) Joseph T. Glessner et al. NATURE
- A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes
- (2009) Marwan Shinawi et al. NATURE GENETICS
- Microduplications of 16p11.2 are associated with schizophrenia
- (2009) Shane E McCarthy et al. NATURE GENETICS
- Personalized copy number and segmental duplication maps using next-generation sequencing
- (2009) Can Alkan et al. NATURE GENETICS
- 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
- (2009) Ingo Helbig et al. NATURE GENETICS
- De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot
- (2009) Steven C Greenway et al. NATURE GENETICS
- Association and Mutation Analyses of 16p11.2 Autism Candidate Genes
- (2009) Ravinesh A. Kumar et al. PLoS One
- Structural Variation of Chromosomes in Autism Spectrum Disorder
- (2008) Christian R. Marshall et al. AMERICAN JOURNAL OF HUMAN 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
- 3q29 interstitial microduplication: A new syndrome in a three-generation family
- (2008) Emily C. Lisi et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Mechanisms of imprinting of the Prader-Willi/Angelman region
- (2008) Bernhard Horsthemke et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Premorbid IQ in Schizophrenia: A Meta-Analytic Review
- (2008) Kristen A. Woodberry et al. AMERICAN JOURNAL OF PSYCHIATRY
- A 15q13.3 microdeletion segregating with autism
- (2008) Alistair T Pagnamenta et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion
- (2008) I. Cusco et al. GENOME RESEARCH
- Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders
- (2008) D T Miller et al. JOURNAL OF MEDICAL GENETICS
- Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
- (2008) F D Hannes et al. JOURNAL OF MEDICAL GENETICS
- Rare chromosomal deletions and duplications increase risk of schizophrenia
- (2008) Jennifer L. Stone et al. NATURE
- Large recurrent microdeletions associated with schizophrenia
- (2008) Hreinn Stefansson et al. NATURE
- Mapping and sequencing of structural variation from eight human genomes
- (2008) Jeffrey M. Kidd et al. NATURE
- Evolutionary toggling of the MAPT 17q21.31 inversion region
- (2008) Michael C Zody et al. NATURE GENETICS
- A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
- (2008) Andrew J Sharp et al. NATURE GENETICS
- Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
- (2008) Nicola Brunetti-Pierri et al. NATURE GENETICS
- Association between Microdeletion and Microduplication at 16p11.2 and Autism
- (2008) Lauren A. Weiss et al. NEW ENGLAND JOURNAL OF MEDICINE
- Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes
- (2008) Heather C. Mefford et al. NEW ENGLAND JOURNAL OF MEDICINE
- Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication
- (2008) Blake C Ballif et al. Molecular Cytogenetics
Become a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get StartedAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started