| scholarly article | Q13442814 |
| P356 | DOI | 10.1016/J.GDE.2013.04.013 |
| P8608 | Fatcat ID | release_5ctgsxqsxbhpnidiinm5hrouoy |
| P932 | PMC publication ID | 3740179 |
| P698 | PubMed publication ID | 23747035 |
| P50 | author | Nicholas Katsanis | Q28037220 |
| Christelle Golzio | Q47502220 | ||
| P2860 | cites work | Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes. | Q50313568 |
| Cardiac defects are infrequent findings in individuals with 8p23.1 genomic duplications containing GATA4. | Q51853465 | ||
| Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion. | Q51892855 | ||
| Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation. | Q51905604 | ||
| 22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes. | Q51928226 | ||
| GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region. | Q51946357 | ||
| 3q29 interstitial microduplication: a new syndrome in a three-generation family. | Q51965745 | ||
| Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome. | Q53166453 | ||
| Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13. | Q53637126 | ||
| DNA deletion associated with hereditary neuropathy with liability to pressure palsies | Q55670941 | ||
| Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A | Q55671003 | ||
| Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome | Q58437149 | ||
| Severe Charcot-Marie-Tooth neuropathy type 1A with 1-base pair deletion and frameshift mutation in the peripheral myelin protein 22 gene | Q58519573 | ||
| Genetic Compensation in a Human Genomic Disorder | Q62059316 | ||
| DNA duplication associated with Charcot-Marie-Tooth disease type 1A | Q68308484 | ||
| Heterozygous peripheral myelin protein 22-deficient mice are affected by a progressive demyelinating tomaculous neuropathy | Q73382782 | ||
| Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits | Q77572380 | ||
| Familial Williams-Beuren syndrome | Q77764778 | ||
| Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia | Q79518248 | ||
| A novel microdeletion at 16p11.2 harbors candidate genes for aortic valve development, seizure disorder, and mild mental retardation | Q80476395 | ||
| The severe end of the spectrum: Hypoplastic left heart in Potocki-Lupski syndrome | Q83309410 | ||
| Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions | Q83593594 | ||
| Rare chromosomal deletions and duplications increase risk of schizophrenia | Q22337245 | ||
| Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions | Q24295078 | ||
| Role of TBX1 in human del22q11.2 syndrome | Q24298685 | ||
| LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition | Q24309104 | ||
| Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity | Q24320361 | ||
| Microduplication and triplication of 22q11.2: a highly variable syndrome | Q24531527 | ||
| Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients | Q24532183 | ||
| 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome | Q24533585 | ||
| Functional impact of global rare copy number variation in autism spectrum disorders | Q24596191 | ||
| Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis | Q24598717 | ||
| A map of human genome variation from population-scale sequencing | Q24617794 | ||
| Clinical and molecular delineation of the 17q21.31 microdeletion syndrome | Q24624737 | ||
| Strong association of de novo copy number mutations with autism | Q24633543 | ||
| Microduplications of 16p11.2 are associated with schizophrenia | Q24634151 | ||
| Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication | Q24646722 | ||
| Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities | Q24647145 | ||
| Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia | Q24650395 | ||
| Large recurrent microdeletions associated with schizophrenia | Q24654741 | ||
| Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes | Q24655755 | ||
| Global variation in copy number in the human genome | Q24658083 | ||
| Autism or atypical autism in maternally but not paternally derived proximal 15q duplication | Q24680506 | ||
| Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype | Q24683002 | ||
| Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models | Q27322785 | ||
| A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men | Q27333802 | ||
| Detection of large-scale variation in the human genome | Q28131803 | ||
| Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion | Q28141491 | ||
| 14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome | Q28178021 | ||
| Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes | Q28254095 | ||
| A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders | Q28262802 | ||
| Association between microdeletion and microduplication at 16p11.2 and autism | Q28264205 | ||
| Large-scale copy number polymorphism in the human genome | Q28273726 | ||
| A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome | Q28275881 | ||
| Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? | Q28283600 | ||
| Psychosis and autism as diametrical disorders of the social brain | Q28285118 | ||
| Interstitial deletion of (17)(p11.2p11.2) in nine patients | Q28302314 | ||
| Copy-number variation and association studies of human disease | Q28307763 | ||
| TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome | Q28512803 | ||
| Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage | Q28585095 | ||
| Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism | Q29013643 | ||
| Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size | Q29544005 | ||
| Genome architecture, rearrangements and genomic disorders | Q29614721 | ||
| A copy number variation morbidity map of developmental delay | Q29616033 | ||
| Copy number variation detection and genotyping from exome sequence data | Q30422583 | ||
| Tbx1: identification of a 22q11.2 gene as a risk factor for autism spectrum disorder in a mouse model | Q30459881 | ||
| Increased LIS1 expression affects human and mouse brain development | Q30639738 | ||
| DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin | Q33611566 | ||
| Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study | Q33679532 | ||
| Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders | Q33874840 | ||
| A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. | Q33892998 | ||
| The 22q11 deletion syndromes | Q33919293 | ||
| The genetic variability and commonality of neurodevelopmental disease | Q33965270 | ||
| Microdeletions of 3q29 confer high risk for schizophrenia | Q34050937 | ||
| Familial Williams-Beuren syndrome showing varying clinical expression | Q34136369 | ||
| Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus | Q34212342 | ||
| De novo rates and selection of large copy number variation | Q34239141 | ||
| Contribution of rare copy number variants to isolated human malformations | Q34440954 | ||
| 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy | Q34519312 | ||
| Detection of copy number variants reveals association of cilia genes with neural tube defects | Q34563191 | ||
| Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning | Q34582831 | ||
| A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features | Q34638615 | ||
| Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive | Q34687380 | ||
| Phenotypic manifestations of copy number variation in chromosome 16p13.11. | Q34705135 | ||
| Recurrent 16p11.2 microdeletions in autism | Q34729775 | ||
| A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes | Q35172094 | ||
| Down syndrome phenotypes: the consequences of chromosomal imbalance | Q35344729 | ||
| Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism | Q35345720 | ||
| Classification of human chromosome 21 gene-expression variations in Down syndrome: impact on disease phenotypes | Q35946317 | ||
| KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant | Q36004324 | ||
| Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome | Q36091184 | ||
| Phenotypic heterogeneity of genomic disorders and rare copy-number variants | Q36387744 | ||
| Copy-number disorders are a common cause of congenital kidney malformations | Q36451480 | ||
| A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures | Q36627230 | ||
| Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes | Q36666974 | ||
| Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases. | Q36835982 | ||
| Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation | Q37067134 | ||
| Essential functions of the Williams-Beuren syndrome-associated TFII-I genes in embryonic development | Q37068339 | ||
| 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. | Q37135729 | ||
| De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot | Q37353964 | ||
| Overproduction of cholesterol and fatty acids causes massive liver enlargement in transgenic mice expressing truncated SREBP-1a | Q37360326 | ||
| Characterization of a recurrent 15q24 microdeletion syndrome. | Q39789768 | ||
| Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome | Q41091241 | ||
| The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A | Q42144462 | ||
| Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly | Q43073303 | ||
| Trembler mouse carries a point mutation in a myelin gene | Q43987147 | ||
| How much is too much? Phenotypic consequences of Rai1 overexpression in mice | Q44936179 | ||
| A 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotype. | Q45229258 | ||
| Mutations in RAI1 associated with Smith-Magenis syndrome | Q48254701 | ||
| PMP22 overexpression causes dysmyelination in mice. | Q48483173 | ||
| A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome. | Q48574743 | ||
| Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome | Q48721610 | ||
| Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders | Q50302375 | ||
| 17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction | Q50307688 | ||
| 16p13.11 duplication is a risk factor for a wide spectrum of neuropsychiatric disorders | Q50310657 | ||
| Narrowing the critical deletion region for autism spectrum disorders on 16p11.2. | Q50312859 | ||
| Copy number variation characteristics in subpopulations of patients with autism spectrum disorders | Q50312875 | ||
| Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region | Q50313009 | ||
| P433 | issue | 3 | |
| P304 | page(s) | 240-248 | |
| P577 | publication date | 2013-06-05 | |
| P1433 | published in | Current Opinion in Genetics & Development | Q13505684 |
| P1476 | title | Genetic architecture of reciprocal CNVs | |
| P478 | volume | 23 |
| Q54060427 | 16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort. |
| Q53085567 | A de novo microtriplication at 4q21.21-q21.22 in a patient with a vascular malignant hemangioma, elongated sigmoid colon, developmental delay, and absence of speech. |
| Q61814671 | An interaction-based model for neuropsychiatric features of copy-number variants |
| Q46976609 | Cellular Phenotypes in Human iPSC-Derived Neurons from a Genetic Model of Autism Spectrum Disorder |
| Q36807618 | Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney. |
| Q47224735 | Genetic basis of human congenital anomalies of the kidney and urinary tract |
| Q38731983 | Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play. |
| Q30849515 | Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data |
| Q35241649 | Interpreting human genetic variation with in vivo zebrafish assays |
| Q53320739 | Interstitial 10p deletion derived from a maternal ins(16;10)(q22;p13p15.2): Report of the first familial case of 10p monosomy affecting to two familial members of different generations. |
| Q52654975 | Investigation of genetic factors underlying typical orofacial clefts: mutational screening and copy number variation. |
| Q26765934 | Mechanisms underlying structural variant formation in genomic disorders |
| Q100736965 | Mutations associated with neuropsychiatric conditions delineate functional brain connectivity dimensions contributing to autism and schizophrenia |
| Q36369958 | Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type |
| Q34067282 | Opposing brain differences in 16p11.2 deletion and duplication carriers |
| Q64088959 | Reciprocal White Matter Changes Associated With Copy Number Variation at 15q11.2 BP1-BP2: A Diffusion Tensor Imaging Study |
| Q53426251 | Recurrent reciprocal copy number variants: Roles and rules in neurodevelopmental disorders. |
| Q37298164 | SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant |
| Q34987854 | Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability. |
| Q55517165 | Survey of Human Chromosome 21 Gene Expression Effects on Early Development in Danio rerio. |
| Q41918222 | The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs |
| Q90712113 | The copy number variation landscape of congenital anomalies of the kidney and urinary tract |
Search more.