ArticleAmerican journal of human genetics2000
The novel genetic disorder microhydranencephaly maps to chromosome 16p13.3-12.1.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
9 citing papers in PubMed, 29 citations in OpenAlex.
- Developmental overproduction of cortical superficial neurons impairs adult auditory cortical processing.Scientific reports · 2025Article
- Time is of the essence: the molecular mechanisms of primary microcephaly.Genes & development · 2021Review
- Neurodevelopmental phenotypes in individuals with pathogenic variants inCold Spring Harbor molecular case studies · 2021Article
- Prenatal diagnosis of fetal microhydranencephaly: a case report and literature review.BMC pregnancy and childbirth · 2020Review
- Emerging roles of Axin in cerebral cortical development.Frontiers in cellular neuroscience · 2015Review
- Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly.Neurogenetics · 2012Article
- A developmental and genetic classification for malformations of cortical development: update 2012.Brain : a journal of neurology · 2012Review
- Article
- Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis.American journal of human genetics · 2006Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We studied a large consanguineous Anatolian family with children who exhibited hydranencephaly associated with microcephaly. The children were severely affected. This novel genetic disorder is autosomal recessive. We used autozygosity mapping to identify a locus at chromosome 16p13.3-12.1; it has a LOD score of 4.11. The gene locus is within a maximal 11-cM interval between markers D16S497 and D16S672 and within a minimal critical region of 8 cM between markers D16S748 and D16S490.
Indexed as
Identifiers
What 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.