ArticleAmerican journal of human genetics1988
Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome.
Article in American journal of human genetics, 1988. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 94 citations in OpenAlex.
- Nonrecurrent 17p duplications in two patients with developmental and neurological abnormalities.Human genome variation · 2025Article
- Comparative Genomic Mapping Implicates LRRK2 for Intellectual Disability and Autism at 12q12, and HDHD1, as Well as PNPLA4, for X-Linked Intellectual Disability at Xp22.31.Journal of clinical medicine · 2020Article
- Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.American journal of human genetics · 2014Article
- Detection of parent-of-origin effects for quantitative traits using general pedigree data.Journal of genetics · 2014Article
- Miller-Dieker syndrome resulting from rearrangement of a familial chromosome 17 inversion detected by fluorescence in situ hybridisation.Journal of medical genetics · 1996Article
- A gene that regulates DNA replication in response to DNA damage is located on human chromosome 4q.American journal of human genetics · 1995Article
- Assignment of the human peroxisomal palmitoyl-CoA oxidase gene to chromosome 17q23-qter by PCR technique.Journal of inherited metabolic disease · 1995Article
- Subcortical laminar heterotopia and lissencephaly in two families: a single X linked dominant gene.Journal of neurology, neurosurgery, and psychiatry · 1994Article
- Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3.American journal of human genetics · 1994Article
- Genetic factors in lissencephaly syndromes: a review.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 1993Review
- Molecular analysis of the 18q- syndrome--and correlation with phenotype.American journal of human genetics · 1993Review
- Characterization of four VNTR loci on human chromosome 6.Mammalian genome : official journal of the International Mammalian Genome Society · 1993Article
- Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization.American journal of human genetics · 1991Article
- Isolated lissencephaly sequence associated with a microdeletion at chromosome 17p13.Human genetics · 1991Article
- Chromosomal assignment of a large tRNA gene cluster (tRNA(Leu), tRNA(Gln), tRNA(Lys), tRNA(Arg), tRNA(Gly)) to 17p13.1.Human genetics · 1991Article
- Miller-Dieker syndrome with ring chromosome 17.Archives of disease in childhood · 1991Article
- Clinical and molecular diagnosis of Miller-Dieker syndrome.American journal of human genetics · 1991Article
- Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids.American journal of human genetics · 1990Article
- Rapid diagnosis of Miller-Dieker syndrome and isolated lissencephaly sequence by the polymerase chain reaction.Human genetics · 1990Article
- Dinucleotide repeat polymorphisms at the D17S250 and D17S261 loci.Nucleic acids research · 1990Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
Miller-Dieker syndrome (MDS), a disorder manifesting the severe brain malformation lissencephaly ("smooth brain"), is caused, in the majority of cases, by a chromosomal microdeletion of the distal short arm of chromosome 17. Using human chromosome 17-specific DNA probes, we have begun a molecular dissection of the critical region for MDS. To localize cloned DNA sequences to the MDS critical region, a human-rodent somatic cell hybrid panel was constructed which includes hybrids containing the abnormal chromosome 17 from three MDS patients with deletions of various sizes. Three genes (myosin heavy chain 2, tumor antigen p53, and RNA polymerase II) previously mapped to 17p were excluded from the MDS deletion region and therefore are unlikely to play a role in its pathogenesis. In contrast, three highly polymorphic anonymous probes, YNZ22.1 (D17S5), YNH37.3 (D17S28), and 144-D6 (D17S34), were deleted in each of four patients with visible deletions, including one with a ring chromosome 17 that is deleted for a portion of the single telomeric prometaphase subband p13.3. In two MDS patients with normal chromosomes, a combination of somatic cell hybrid, RFLP, and densitometric studies demonstrated deletion for YNZ22.1 and YNH37.3 in the paternally derived 17's of both patients, one of whom is also deleted for 144-D6. The results indicate that MDS can be caused by submicroscopic deletion and raises the possibility that all MDS patients will prove to have deletions at a molecular level. The two probes lie within a critical region of less than 3,000 kb and constitute potential starting points in the isolation of genes implicated in the severe brain maldevelopment in MDS.
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3189330PMC1715542W1486020487What OpenQuestion holds
Registered trials
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