ArticleAmerican journal of human genetics1996
Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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Who cites it
43 citing papers in PubMed, 128 citations in OpenAlex.
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- Unravelling High Nuclear Genomic Similarity and Mitochondria Linked Epigenetic Divergence in SCNT Derived Buffalo Clones via Long-Read Nanopore Genome Sequencing.International journal of molecular sciences · 2025Article
- RETRACTED: Retinoic Acid Induced 1 and Smith-Magenis Syndrome: From Genetics to Biology and Possible Therapeutic Strategies.International journal of molecular sciences · 2025Review
- A comparative study of structural variant calling in WGS from Alzheimer's disease families.Life science alliance · 2024Article
- Smith-Magenis Syndrome: Clues in the Clinic.Journal of pediatric genetics · 2020Article
- Prenatal diagnosis and neonatal phenotype of aJournal of genetics · 2020Article
- Smith-Magenis Syndrome: Molecular Basis of a Genetic-Driven Melatonin Circadian Secretion Disorder.International journal of molecular sciences · 2019Review
- Reorganization ofThe EMBO journal · 2018Article
- Pronounced maternal parent-of-origin bias for type-1 NF1 microdeletions.Human genetics · 2018Article
- Overview of Social Cognitive Dysfunctions in Rare Developmental Syndromes With Psychiatric Phenotype.Frontiers in pediatrics · 2018Review
- Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.Human genetics · 2017Article
- Review
- Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.Genome medicine · 2016Article
- Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.Human genetics · 2016Article
- Behavioral disturbance and treatment strategies in Smith-Magenis syndrome.Orphanet journal of rare diseases · 2015Article
- Increased expression of retinoic acid-induced gene 1 in the dorsolateral prefrontal cortex in schizophrenia, bipolar disorder, and major depression.Neuropsychiatric disease and treatment · 2015Article
- Immune complex-mediated autoimmunity in a patient With Smith-Magenis syndrome (del 17p11.2).Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases · 2014Review
- Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions.Molecular syndromology · 2014Article
- Genetics of bipolar disorder.The application of clinical genetics · 2014Review
- RAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis Syndrome.PloS one · 2012Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
Abstract
Smith-Magenis syndrome (SMS) is a clinically recognizable, multiple congenital anomalies/mental retardation syndrome caused by an interstitial deletion involving band p11.2 of chromosome 17. Toward the molecular definition of the interval defining this microdeletion syndrome, 62 unrelated SMS patients in conjunction with 70 available unaffected parents were molecularly analyzed with respect to the presence or absence of 14 loci in the proximal region of the short arm of chromosome 17. A multifaceted approach was used to determine deletion status at the various loci that combined (i) FISH analysis, (ii)PCR and Southern analysis of somatic cell hybrids retaining the deleted chromosome 17 from selected patients, and (iii) genotype determination of patients for whom a parent(s) was available at four microsatellite marker loci and at four loci with associated RFLPs. The relative order of two novel anonymous markers and a new microsatellite marker was determined in 17p11.2. The results confirmed that the proximal deletion breakpoint in the majority of SMS patients is located between markers D17S58 (EW301) and D17S446 (FG1) within the 17p11.1-17p11.2 region. The common distal breakpoint was mapped between markers cCI17-638, which lies distal to D17S71, and cCI17-498, which lies proximal to the Charcot Marie-Tooth disease type 1A locus. The locus D17S258 was found to be deleted in all 62 patients, and probes from this region can be used for diagnosis of the SMS deletion by FISH. Ten patients demonstrated molecularly distinct deletions; of these, two patients had smaller deletions and will enable the definition of the critical interval for SMS.
Indexed as
Identifiers
8651284PMC1914618W1541666340What OpenQuestion holds
Registered trials
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