ReviewHuman genetics2004
Parents of children with autosomal recessive diseases are not always carriers of the respective mutant alleles.
Review in Human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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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.
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Who cites it
11 citing papers in PubMed, 40 citations in OpenAlex.
- Novel compound heterozygous nonsense variants, p.L150* and p.Y3565*, of the USH2A gene in a Chinese pedigree are associated with Usher syndrome type IIA.Molecular medicine reports · 2020Article
- Family-based germline sequencing in children with cancer.Oncogene · 2019Review
- A Unique Mutational Spectrum of MLC1 in Korean Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: p.Ala275Asp Founder Mutation and Maternal Uniparental Disomy of Chromosome 22.Annals of laboratory medicine · 2017Article
- Uniparental disomy determined by whole-exome sequencing in a spectrum of rare motoneuron diseases and ataxias.Molecular genetics & genomic medicine · 2017Article
- Prenatal diagnosis of complete maternal uniparental isodisomy of chromosome 4 in a fetus without congenital abnormality or inherited disease-associated variations.Molecular cytogenetics · 2015Article
- A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders.Genome research · 2014Article
- Complete maternal isodisomy of chromosome 5 in a Japanese patient with Netherton syndrome.The Journal of investigative dermatology · 2014Article
- Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization.BMC genomics · 2009Article
- Very high birth weight of offspring is associated with an increased risk of leukemia in their mothers: results of a population-based cohort study.Leukemia research · 2008Article
- Hidden Markov models for the assessment of chromosomal alterations using high-throughput SNP arrays.The annals of applied statistics · 2008Article
- The ratio of maternal to paternal UPD associated with recessive diseases.Human genetics · 2005Article
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1 author at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Classically, each parent of a child with an autosomal recessive disease has been considered to carry at least one copy of the abnormal allele. However, with the increasing ability to characterise the molecular basis of genetic diseases, several exceptions have been reported. The most frequent situation is that only one parent is a carrier of the mutation that is present in the patient in two copies either because of uniparental disomy or because of a de-novo mutation on the gene transmitted by the non-carrier parent. In order to give accurate genetic counselling, in particular when prenatal diagnosis is envisaged, molecular analysis of each of the parents of a child affected with an autosomal recessive disease must be routinely performed.
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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.