ArticleAmerican journal of human genetics2003
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation.
Article in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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32 citing papers in PubMed, 95 citations in OpenAlex.
- Single-cell analysis of the epigenome and 3D chromatin architecture in the human retina.Science advances · 2026Article
- TMEM216 Deletion Causes Mislocalization of Cone Opsin and Rhodopsin and Photoreceptor Degeneration in Zebrafish.Investigative ophthalmology & visual science · 2020Article
- Diagnosis of Joubert syndrome via ultrasonography.Journal of medical ultrasonics (2001) · 2017Article
- Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel.Journal of medical genetics · 2016Article
- Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.Science (New York, N.Y.) · 2012Article
- Co-occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers.American journal of medical genetics. Part A · 2011Article
- AHI-1: a novel signaling protein and potential therapeutic target in human leukemia and brain disorders.Oncotarget · 2011Review
- Juvenile nephronophthisis on MRI--a potential case of Joubert syndrome?Pediatric radiology · 2010Article
- Joubert syndrome associated with severe central sleep apnea.Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2010Article
- Uner tan syndrome: history, clinical evaluations, genetics, and the dynamics of human quadrupedalism.The open neurology journal · 2010Article
- Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.Nature genetics · 2010Article
- Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.American journal of human genetics · 2010Article
- Article
- A developmental and genetic classification for midbrain-hindbrain malformations.Brain : a journal of neurology · 2009Review
- Clinical and molecular features of Joubert syndrome and related disorders.American journal of medical genetics. Part C, Seminars in medical genetics · 2009Review
- CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.Human mutation · 2009Article
- OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.American journal of human genetics · 2009Article
- Nephronophthisis.European journal of human genetics : EJHG · 2009Article
- Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.American journal of human genetics · 2008Article
- Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.American journal of human genetics · 2007Article
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cerebello-oculo-renal syndromes (CORSs) and Joubert syndrome (JS) are clinically and genetically heterogeneous autosomal recessive syndromes that share a complex neuroradiological malformation resembling a molar tooth on brain axial images, a condition referred to as "molar tooth on imaging" (MTI) or the "molar tooth sign." The current literature on these syndromes is complex, with overlapping and incomplete phenotypes that complicate the selection of clinically homogeneous cases for genetic purposes. So far, only one locus (JBTS1 on 9q34) has been mapped, in two families with JS. Here, we describe a large consanguineous family with JS and nephronophthisis, representing a novel cerebello-renal phenotype. We have mapped this condition to the pericentromeric region of chromosome 11 and have named the locus "CORS2." The acronym "CORS" is proposed for all loci associated with JS, CORSs, and related phenotypes sharing the MTI, because this neuroradiological sign seems to be the unifying feature of these clinically heterogeneous syndromes.
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