ArticleJournal of medical genetics1995
Cerebellar atrophy in a patient with velocardiofacial syndrome.
Article in Journal of medical genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 84 citations in OpenAlex.
- Article
- Structural Cerebellar Abnormalities and Parkinsonism in Patients with 22q11.2 Deletion Syndrome.Brain sciences · 2022Article
- Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy.NPJ genomic medicine · 2018Article
- An Adult Case of Chromosome 22q11.2 Deletion Syndrome Associated with a High-positioned Right Aortic Arch.Internal medicine (Tokyo, Japan) · 2017Article
- Article
- Performance on a computerized neurocognitive battery in 22q11.2 deletion syndrome: A comparison between US and Israeli cohorts.Brain and cognition · 2016Article
- Investigation of the involvement of MIR185 and its target genes in the development of schizophrenia.Journal of psychiatry & neuroscience : JPN · 2014Article
- Cortical gyrification in velo-cardio-facial (22q11.2 deletion) syndrome: a longitudinal study.Schizophrenia research · 2012Article
- Bridging the gene-behavior divide through neuroimaging deletion syndromes: Velocardiofacial (22q11.2 Deletion) and Williams (7q11.23 Deletion) syndromes.NeuroImage · 2010Review
- The co-occurrence of early onset Parkinson disease and 22q11.2 deletion syndrome.American journal of medical genetics. Part A · 2009Article
- Structural brain abnormalities in patients with schizophrenia and 22q11 deletion syndrome.Biological psychiatry · 2002Article
- Qualitative MRI findings in adults with 22q11 deletion syndrome and schizophrenia.Biological psychiatry · 1999Article
- Phenotype of adults with the 22q11 deletion syndrome: A review.American journal of medical genetics · 1999Review
- 22q11 deletion syndrome: a genetic subtype of schizophrenia.Biological psychiatry · 1999Review
- 22q11 deletion syndrome in adults with schizophrenia.American journal of medical genetics · 1998Article
- Absence of a del(22q11) in a patient with the 3C (craniocerebellocardiac) syndrome.Journal of medical genetics · 1998Article
- Velocardiofacial syndrome.Postgraduate medical journal · 1997Review
- Radial aplasia and chromosome 22q11 deletion.Journal of medical genetics · 1997Article
- Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.Journal of medical genetics · 1997Article
- Should the 3C (craniocerebellocardiac) syndrome be included in the spectrum of velocardiofacial syndrome and DiGeorge sequence?Journal of medical genetics · 1996Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Velocardiofacial syndrome and DiGeorge syndrome have not previously been associated with central nervous system degeneration. We report a 34 year old man who presented for neurological evaluation with cerebellar atrophy of unknown aetiology. On historical review, he had neonatal hypocalcaemia, an atrial septal defect, and a corrected cleft palate. His physical examination showed the characteristic facies of velocardiofacial syndrome as well as dysmetria and dysdiadocho-kinesia consistent with cerebellar degeneration. Molecular cytogenetic studies showed a deletion of 22q11.2. This man is the first reported patient with the association of a neurodegenerative disorder and 22q11.2 deletion syndrome.
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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.