ArticleAmerican journal of human genetics1997
Fine mapping of an imprinted gene for familial nonchromaffin paragangliomas, on chromosome 11q23.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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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
19 citing papers in PubMed, 93 citations in OpenAlex.
- Primary facial nerve paraganglioma: report and review of the literature.BMJ case reports · 2020Review
- Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach.Scientifica · 2016Review
- Counseling patients with succinate dehydrogenase subunit defects: genetics, preventive guidelines, and dealing with uncertainty.Journal of pediatric endocrinology & metabolism : JPEM · 2014Article
- Hereditary paragangliomas.Advances in oto-rhino-laryngology · 2011Review
- SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromes.Journal of internal medicine · 2009Review
- Cervical paragangliomas: is SDH genetic analysis systematically required?European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2008Article
- Cervical paragangliomas: neurovascular surgical risk and therapeutic management.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2006Article
- Familial paraganglioma.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2006Article
- SDHC mutations in hereditary paraganglioma/pheochromocytoma.Familial cancer · 2005Review
- Multiple pheochromocytomas and paragangliomas in a young patient carrying a SDHD gene mutation.European journal of pediatrics · 2004Article
- Article
- Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect.Human genetics · 2003Article
- Hereditary paraganglioma targets diverse paraganglia.Journal of medical genetics · 2002Review
- Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.Journal of medical genetics · 2002Article
- Germline SDHD mutation in paraganglioma of the spinal cord.Oncogene · 2001Article
- Localization of multiple melanoma tumor-suppressor genes on chromosome 11 by use of homozygosity mapping-of-deletions analysis.American journal of human genetics · 2000Article
- Comparative genomic hybridization reveals frequent losses of chromosomes 1p and 3q in pheochromocytomas and abdominal paragangliomas, suggesting a common genetic etiology.The American journal of pathology · 2000Article
- Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: evidence for anticipation and segregation distortion.American journal of human genetics · 1999Article
- Founder effect at PGL1 in hereditary head and neck paraganglioma families from the Netherlands.American journal of human genetics · 1998Article
Corrections and comments
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Authors and funding
17 authors at 1 institution in 1 country.
Funding
Abstract
Hereditary nonchromaffin paragangliomas (PGL; glomus tumors; MIM 168000) are mostly benign, slow-growing tumors of the head and neck region, inherited from carrier fathers in an autosomal dominant fashion subject to genomic imprinting. Genetic linkage analysis in two large, unrelated Dutch families assigned PGL loci to two regions of chromosome 11, at 11q23 (PGL1) and 11q13.1 (PGL2). We ascertained a total of 11 North American PGL families and confirmed maternal imprinting (inactivation). In three of six families, linkage analysis provided evidence of linkage to the PGL1 locus at 11q23. Recombinants narrowed the critical region to an approximately 4.5-Mb interval flanked by markers D11S1647 and D11S622. Partial allelic loss of strictly maternal origin was detected in 5 of 19 tumors. The greatest degree of imbalance was detected at 11q23, distal to D11S1327 and proximal to CD3D. Age at onset of symptoms was significantly different between fathers and children (Wilcoxon rank-sum test, P < .002). Affected children had an earlier age at onset of symptoms in 39 of 57 father-child pairs (chi2 = 7.74, P < .006). However, a more conservative comparison of the number of pairs in which a child had > or = 5 years earlier age at onset (n = 33) vis-a-vis that of complementary pairs (n = 24) revealed no significant difference (chi2 = 1.42, P > .2). Whether these data represent genetic anticipation or ascertainment bias can be addressed only by analysis of a larger number of father-child pairs.
Indexed as
Identifiers
8981955PMC1712548W190284239What 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.