ArticleAmerican journal of human genetics1991
Clinical and molecular diagnosis of Miller-Dieker syndrome.
Article in American journal of human genetics, 1991. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.
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Who cites it
50 citing papers in PubMed, 241 citations in OpenAlex.
- Perioperative Care of a Child With Miller-Dieker Syndrome.Journal of medical cases · 2026Article
- Multi-Omics Approach Reveals Genes and Pathways Affected in Miller-Dieker Syndrome.Molecular neurobiology · 2025Article
- Total callosotomy ameliorates epileptic activity and improves cognitive function in a patient with Miller-Dieker syndrome.Epilepsy & behavior reports · 2024Article
- Infantile epileptic spasms syndrome in a child with lissencephaly associated withEpilepsy & behavior reports · 2024Article
- Anesthetic Management and Bispectral Index in a Child with Miller-Dieker Syndrome: A Case Report.Children (Basel, Switzerland) · 2023Article
- WD40-Repeat Proteins in Ciliopathies and Congenital Disorders of Endocrine System.Endocrinology and metabolism (Seoul, Korea) · 2020Review
- Comprehensive genomic analysis of patients with disorders of cerebral cortical development.European journal of human genetics : EJHG · 2018Article
- Lissencephaly: Expanded imaging and clinical classification.American journal of medical genetics. Part A · 2017Article
- Human iPSC-Derived Cerebral Organoids Model Cellular Features of Lissencephaly and Reveal Prolonged Mitosis of Outer Radial Glia.Cell stem cell · 2017Article
- Management of general anesthesia in a child with Miller-Dieker syndrome: a case report.JA clinical reports · 2015Article
- Of mice and men: molecular genetics of congenital heart disease.Cellular and molecular life sciences : CMLS · 2014Review
- The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.American journal of medical genetics. Part A · 2013Article
- Brain and spinal manifestations of Miller-Dieker syndrome.Neurology. Clinical practice · 2013Article
- A behavioral evaluation of sex differences in a mouse model of severe neuronal migration disorder.PloS one · 2013Article
- A developmental and genetic classification for malformations of cortical development: update 2012.Brain : a journal of neurology · 2012Review
- On the spot: very local chromosomal rearrangements.F1000 biology reports · 2012Article
- Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns.Genome medicine · 2012Review
- Genetic and biologic classification of infantile spasms.Pediatric neurology · 2011Review
- Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly.Acta neuropathologica · 2011Review
- Miller-Dieker syndrome with der(17)t(12;17)(q24.33;p13.3)pat presenting with a potential risk of mis-identification as a de novo submicroscopic deletion of 17p13.3.The Korean journal of laboratory medicine · 2011Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
We report results of clinical, cytogenetic, and molecular studies in 27 patients with Miller-Dieker syndrome (MDS) from 25 families. All had severe type I lissencephaly with grossly normal cerebellum and a distinctive facial appearance consisting of prominent forehead, bitemporal hollowing, short nose with upturned nares, protuberant upper lip, thin vermilion border, and small jaw. Several other abnormalities, especially growth deficiency, were frequent but not constant. Chromosome analysis showed deletion of band 17p13 in 14 of 25 MDS probands. RFLP and somatic cell hybrid studies using probes from the 17p13.3 region including pYNZ22 (D17S5), pYNH37 (D17S28), and p144-D6 (D17S34) detected deletions in 19 of 25 probands tested including seven in whom chromosome analysis was normal. When the cytogenetic and molecular data are combined, deletions were detected in 21 of 25 probands. Parental origin of de novo deletions was determined in 11 patients. Paternal origin occurred in seven and maternal origin in four. Our demonstration of cytogenetic or molecular deletions in 21 of 25 MDS probands proves that deletion of a "critical region" comprising two or more genetic loci within band 17p13.3 is the cause of the MDS phenotype. We suspect that the remaining patients have smaller deletions involving the proposed critical region which are not detected with currently available probes.
Indexed as
Identifiers
1671808PMC1682996W87422297What OpenQuestion holds
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.