| scholarly article | Q13442814 |
| P2093 | author name string | Aaron Theisen | |
| Bassem A Bejjani | |||
| Blake C Ballif | |||
| Christopher A Friedrich | |||
| Elaine H Zackai | |||
| Gordon C Gowans | |||
| Jeffrey E Ming | |||
| Joseph H Hersh | |||
| Justine Coppinger | |||
| Karen R Schmidt | |||
| Lindsey Campbell | |||
| Lisa G Shaffer | |||
| Luis F Escobar | |||
| Marie McDonald | |||
| Raymond Tervo | |||
| Suneeta Madan-Khetarpal | |||
| P2860 | cites work | 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome | Q24533585 |
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| P433 | issue | 1 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | phenotype | Q104053 |
| microdeletion syndrome | Q10329580 | ||
| P304 | page(s) | 8 | |
| P577 | publication date | 2008-01-01 | |
| P1433 | published in | Molecular Cytogenetics | Q15761790 |
| P1476 | title | Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication | |
| P478 | volume | 1 |
| Q51930213 | 3q29 Microdeletion: a mental retardation disorder unassociated with a recognizable phenotype in two mother-daughter pairs. |
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| Q33405662 | Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders |
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| Q50309794 | Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems. |
| Q37831223 | Copy number variants: a new molecular frontier in clinical psychiatry |
| Q50302375 | Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders |
| Q47414979 | Defining the impact of maternal cell contamination on the interpretation of prenatal microarray analysis |
| Q34873887 | Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes |
| Q47816511 | Diagnostic utility of microarray testing in pregnancy loss. |
| Q27015135 | Differential expression of PDZ domain-containing proteins in human diseases - challenging topics and novel issues |
| Q34775497 | Disorders caused by chromosome abnormalities |
| Q34249436 | Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk? |
| Q37499225 | Duplication hotspots, rare genomic disorders, and common disease |
| Q34576300 | Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment |
| Q37396271 | Effects of ozone exposure during microarray posthybridization washes and scanning |
| Q91937024 | Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome |
| Q41049988 | Estimates of penetrance for recurrent pathogenic copy-number variations |
| Q34608117 | Evaluation of chronic lymphocytic leukemia by BAC-based microarray analysis. |
| Q42623377 | Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders |
| Q64078718 | Familial inheritance of the 3q29 microdeletion syndrome: case report and review |
| Q40106100 | Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly |
| Q55279729 | GWAS reveals loci associated with velopharyngeal dysfunction. |
| Q38112901 | Genetic architecture of reciprocal CNVs |
| Q33612782 | Genetic studies in Drosophila and humans support a model for the concerted function of CISD2, PPT1 and CLN3 in disease |
| Q57040399 | Genetic variability in scaffolding proteins and risk for schizophrenia and autism-spectrum disorders: a systematic review |
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| Q34110429 | Genome-wide signatures of 'rearrangement hotspots' within segmental duplications in humans |
| Q37198442 | Genomic disorders ten years on. |
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| Q28265767 | Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations |
| Q34328822 | Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures |
| Q59780534 | High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders |
| Q50309527 | Human copy number variation and complex genetic disease. |
| Q33708603 | Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities |
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| Q84357243 | Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate |
| Q34050937 | Microdeletions of 3q29 confer high risk for schizophrenia |
| Q37042459 | Molecular Cytogenetics: the first impact factor (2.36) |
| Q34060426 | Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting |
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| Q44196200 | Mutation screening of the 3q29 microdeletion syndrome candidate genes DLG1 and PAK2 in schizophrenia |
| Q89695520 | NCBP2 modulates neurodevelopmental defects of the 3q29 deletion in Drosophila and Xenopus laevis models |
| Q51825997 | NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype. |
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| Q36695727 | PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome. |
| Q98894330 | Phenotype Heterogeneity in 3q29 Microduplication Syndrome |
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| Q37784332 | Phenotypic variability and genetic susceptibility to genomic disorders |
| Q33399605 | Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes |
| Q47236320 | Rare copy number variants in neuropsychiatric disorders: Specific phenotype or not? |
| Q64088959 | Reciprocal White Matter Changes Associated With Copy Number Variation at 15q11.2 BP1-BP2: A Diffusion Tensor Imaging Study |
| Q34729624 | Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH. |
| Q50302372 | Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity. |
| Q38616673 | Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications |
| Q36848387 | Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats |
| Q82609088 | Recurrent interstitial 1p36 deletions: Evidence for germline mosaicism and complex rearrangement breakpoints |
| Q35546481 | Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1. |
| Q34079175 | Relative burden of large CNVs on a range of neurodevelopmental phenotypes |
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| Q37272341 | Segmental duplications mediate novel, clinically relevant chromosome rearrangements |
| Q21091190 | Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome |
| Q58488488 | Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array-based comparative genomic hybridization |
| Q35075500 | Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications |
| Q55286694 | Study protocol for The Emory 3q29 Project: evaluation of neurodevelopmental, psychiatric, and medical symptoms in 3q29 deletion syndrome. |
| Q45301359 | Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability. |
| Q30477238 | The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype |
| Q55284056 | The 3q29 microdeletion syndrome: report of three new unrelated patients and in silico "RNA binding" analysis of the 3q29 region. |
| Q37421257 | The Psychological Impact of Prenatal Diagnosis and Disclosure of Susceptibility Loci: First Impressions of Parents' Experiences. |
| Q37704614 | The clinical context of copy number variation in the human genome |
| Q33965270 | The genetic variability and commonality of neurodevelopmental disease |
| Q46209795 | Uncovering recurrent microdeletion syndromes and subtelomeric deletions/duplications through non-selective application of a MLPA-based extended prenatal panel in routine prenatal diagnosis |
| Q33468837 | Whole genome scanning: resolving clinical diagnosis and management amidst complex data |
| Q37700820 | Whole-genome copy number variation analysis in anophthalmia and microphthalmia |
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