ReviewCytogenetic and genome research2008
CNV and nervous system diseases--what's new?
Review in Cytogenetic and genome research, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
17 citing papers in PubMed, 78 citations in OpenAlex.
- Galnt17 loss-of-function leads to developmental delay and abnormal coordination, activity, and social interactions with cerebellar vermis pathology.Developmental biology · 2022Article
- Article
- Copy number variability in Parkinson's disease: assembling the puzzle through a systems biology approach.Human genetics · 2017Review
- Tracking Cancer Genetic Evolution using OncoTrack.Scientific reports · 2016Article
- Article
- MECP2 duplication syndrome in a Chinese family.BMC medical genetics · 2015Article
- Neuron membrane trafficking and protein kinases involved in autism and ADHD.International journal of molecular sciences · 2015Review
- Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.European journal of human genetics : EJHG · 2014Article
- De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features.Molecular cytogenetics · 2013Article
- Article
- Identification of germline genomic copy number variation in familial pancreatic cancer.Human genetics · 2012Article
- Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.Human molecular genetics · 2012Article
- A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature.Journal of applied genetics · 2011Article
- Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy.European journal of human genetics : EJHG · 2011Article
- "Idiopathic" mental retardation and new chromosomal abnormalities.Italian journal of pediatrics · 2010Review
- Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution.Proceedings of the National Academy of Sciences of the United States of America · 2010Review
- Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.Human molecular genetics · 2009Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Several new genomic disorders caused by copy number variation (CNV) of genes whose dosage is critical for the physiological function of the nervous system have been recently identified. Dup(7)(q11.23) patients carry duplications of the genomic region deleted in Williams-Beuren syndrome, they are characterized by prominent speech delay. The phenotypes of Potocki-Lupski syndrome and MECP2 duplication syndrome were neuropsychologically examined in detail, which revealed autism as an endophenotype and a prominent behavioral feature of these disorders. Tandem duplication of LMNB1 was reported to cause adult-onset autosomal dominant leukodystrophy. PAFAH1B1/LIS1 and YWHAE, which were deleted in isolated lissencephaly (PAFAH1B1/LIS1 alone) and Miller-Dieker syndrome (both genes), were found to be duplicated in patients with developmental delay. Finally, two novel microdeletion syndromes affecting 17q21.31 and 15q13.3, as well as their reciprocal duplications, were also identified. In this review, we provide an overview of the phenotypic manifestation of these syndromes and the rearrangements causing them.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.