{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T13:38:47Z","timestamp":1791207527678,"version":"4.1.0"},"reference-count":42,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[1999,4,1]],"date-time":"1999-04-01T00:00:00Z","timestamp":922924800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":5223,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[1999,4]]},"DOI":"10.1086\/302339","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T18:47:41Z","timestamp":1027709261000},"page":"1110-1118","source":"Crossref","is-referenced-by-count":61,"title":["Precise Genetic Mapping and Haplotype Analysis of the Familial Dysautonomia Gene on Human Chromosome 9q31"],"prefix":"10.1016","volume":"64","author":[{"given":"Anat","family":"Blumenfeld","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan A.","family":"Slaugenhaupt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher B.","family":"Liebert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Violeta","family":"Temper","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Channa","family":"Maayan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Gill","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diane E.","family":"Lucente","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Idelson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathy","family":"MacCormack","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary Anne","family":"Monahan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Mull","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maire","family":"Leyne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Mendillo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taryn","family":"Schiripo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Mishori","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xandra","family":"Breakefield","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Felicia B.","family":"Axelrod","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Gusella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/302339_bib1","first-page":"951","article-title":"Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population","volume":"51","author":"Abeliovich","year":"1992","journal-title":"Am J Hum Genet"},{"key":"10.1086\/302339_bib2","doi-asserted-by":"crossref","first-page":"856","DOI":"10.1007\/BF02619631","article-title":"Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines","volume":"20","author":"Anderson","year":"1984","journal-title":"In Vitro"},{"key":"10.1086\/302339_bib3","series-title":"Cell and molecular biology of neuronal development","first-page":"331","article-title":"Familial dysautonomia and other congenital and sensory autonomic neuropathies","author":"Axelrod","year":"1984"},{"key":"10.1086\/302339_bib4","first-page":"217","article-title":"Familial dysautonomia","volume":"Vol 5","author":"Axelrod","year":"1995"},{"key":"10.1086\/302339_bib5","series-title":"Primer on the autonomic nervous system","first-page":"242","article-title":"Familial dysautonomia","author":"Axelrod","year":"1996"},{"key":"10.1086\/302339_bib6","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1016\/S0022-3476(82)80130-3","article-title":"Familial dysautonomia: a prospective study of survival","volume":"101","author":"Axelrod","year":"1982","journal-title":"J Pediatr"},{"key":"10.1086\/302339_bib7","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/S0065-3101(22)00845-3","article-title":"Familial dysautonomia: diagnosis, pathogenesis and management","volume":"21","author":"Axelrod","year":"1974","journal-title":"Adv Pediatr"},{"key":"10.1086\/302339_bib8","doi-asserted-by":"crossref","first-page":"947","DOI":"10.1001\/archpedi.1984.02140480049016","article-title":"Congenital sensory neuropathies: diagnostic distinction from familial dysautonomia","volume":"138","author":"Axelrod","year":"1984","journal-title":"Am J Dis Child"},{"key":"10.1086\/302339_bib9","first-page":"85","article-title":"Gaucher disease: gene frequencies in the Ashkenazi Jewish population","volume":"52","author":"Beutler","year":"1993","journal-title":"Am J Hum Genet"},{"key":"10.1086\/302339_bib11","first-page":"97","article-title":"Localization of the familial dysautonomia gene to chromosome 9q31-33 and the development of a genetic test for the disease","volume":"128","author":"Blumenfeld","year":"1995","journal-title":"Harefuah"},{"key":"10.1086\/302339_bib10","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1136\/jmg.30.1.47","article-title":"Exclusion of familial dysautonomia from more than 60% of the genome","volume":"30","author":"Blumenfeld","year":"1993","journal-title":"J Med Genet"},{"key":"10.1086\/302339_bib12","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1038\/ng0693-160","article-title":"Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis","volume":"4","author":"Blumenfeld","year":"1993","journal-title":"Nat Genet"},{"key":"10.1086\/302339_bib14","doi-asserted-by":"crossref","first-page":"4213","DOI":"10.1073\/pnas.81.13.4213","article-title":"Structural gene for beta-nerve growth factor not defective in familial dysautonomia","volume":"81","author":"Breakefield","year":"1984","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/302339_bib15","first-page":"483","article-title":"DNA polymorphisms for the nerve growth factor receptor gene exclude its role in familial dysautonomia","volume":"3","author":"Breakefield","year":"1986","journal-title":"Mol Biol Med"},{"key":"10.1086\/302339_bib16","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1097\/00005792-197009000-00001","article-title":"Familial dysautonomia: a report of genetic and clinical studies, with a review of the literature","volume":"49","author":"Brunt","year":"1970","journal-title":"Medicine (Baltimore)"},{"key":"10.1086\/302339_bib17","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1038\/380152a0","article-title":"A comprehensive genetic map of the human genome based on 5,264 microsatellites","volume":"380","author":"Dib","year":"1996","journal-title":"Nature"},{"key":"10.1086\/302339_bib18","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1002\/ajmg.1320590314","article-title":"Prenatal diagnosis of familial dysautonomia by analysis of linked CA-repeat polymorphisms on chromosome 9q31-q33","volume":"59","author":"Eng","year":"1995","journal-title":"Am J Med Genet"},{"key":"10.1086\/302339_bib19","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/B978-0-12-462003-2.50009-2","article-title":"Hunting for Huntington's disease","volume":"3","author":"Gusella","year":"1993","journal-title":"Mol Genet Med"},{"key":"10.1086\/302339_bib20","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1038\/ng0694supp-246","article-title":"The 1993-94 G\u00e9n\u00e9thon human genetic linkage map","volume":"7","author":"Gyapay","year":"1994","journal-title":"Nat Genet"},{"key":"10.1086\/302339_bib21","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1542\/peds.65.1.107","article-title":"Dysautonomia in an infant with secondary hyperammonemia due to propionyl coenzyme A carboxylase deficiency","volume":"65","author":"Harris","year":"1980","journal-title":"Pediatrics"},{"key":"10.1086\/302339_bib22","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/S0022-3476(80)80334-9","article-title":"Familial dysautonomia associated with recurrent osteomyelitis in a non-Jewish girl","volume":"96","author":"Klebanoff","year":"1980","journal-title":"J Pediatr"},{"key":"10.1086\/302339_bib23","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1016\/0888-7543(92)90370-8","article-title":"Construction of a GT polymorphism map of human 9q","volume":"12","author":"Kwiatkowski","year":"1992","journal-title":"Genomics"},{"key":"10.1086\/302339_bib24","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/S0022-3476(77)80769-5","article-title":"Familial dysautonomia: unusual presentation in an infant of non-Jewish ancestry","volume":"90","author":"Levine","year":"1977","journal-title":"J Pediatr"},{"key":"10.1086\/302339_bib25","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1111\/j.1399-0004.1987.tb03334.x","article-title":"Incidence of familial dysautonomia in Israel 1977-1981","volume":"32","author":"Maayan","year":"1987","journal-title":"Clin Genet"},{"key":"10.1086\/302339_bib26","first-page":"719","article-title":"Familial dysautonomia in a Hindu boy","volume":"132","author":"Mehta","year":"1978","journal-title":"Am J Dis Child"},{"key":"10.1086\/302339_bib27","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1002\/pd.1970150905","article-title":"Prenatal diagnostic testing for familial dysautonomia using linked genetic markers","volume":"15","author":"Oddoux","year":"1995","journal-title":"Prenat Diagn"},{"key":"10.1086\/302339_bib28","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1111\/j.1651-2227.1977.tb07988.x","article-title":"Familial dysautonomia in a non-Jewish child","volume":"66","author":"Orbeck","year":"1977","journal-title":"Acta Paediatr Scand"},{"key":"10.1086\/302339_bib29","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1101\/gr.7.5.483","article-title":"Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium","volume":"7","author":"Ozelius","year":"1997","journal-title":"Genome Res"},{"key":"10.1086\/302339_bib31","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/0022-510X(78)90193-4","article-title":"Quantitative studies of ciliary and sphenopalatine ganglia in familial dysautonomia","volume":"39","author":"Pearson","year":"1978","journal-title":"J Neurol Sci"},{"key":"10.1086\/302339_bib30","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1016\/0022-510X(78)90187-9","article-title":"Quantitative studies of sympathetic ganglia and spinal cord intermedio-lateral gray columns in familial dysautonomia","volume":"39","author":"Pearson","year":"1978","journal-title":"J Neurol Sci"},{"key":"10.1086\/302339_bib32","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/0022-510X(78)90103-X","article-title":"Quantitative studies of dorsal root ganglia and neuropathologic observations on spinal cords in familial dysautonomia","volume":"35","author":"Pearson","year":"1978","journal-title":"J Neurol Sci"},{"key":"10.1086\/302339_bib33","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1046\/j.1469-1809.1997.6130183.x","article-title":"Report on the Fifth International Workshop on Chromosome 9 held at Eynsham, Oxfordshire, UK, September 4-6, 1996","volume":"61","author":"Povey","year":"1997","journal-title":"Ann Hum Genet"},{"key":"10.1086\/302339_bib34","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1542\/peds.3.4.468","article-title":"Central autonomic dysfunction with defective lacrimation","volume":"3","author":"Riley","year":"1949","journal-title":"Pediatrics"},{"key":"10.1086\/302339_bib35","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1038\/ng0295-152","article-title":"Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population","volume":"9","author":"Risch","year":"1995","journal-title":"Nat Genet"},{"key":"10.1086\/302339_bib36","doi-asserted-by":"crossref","first-page":"1154","DOI":"10.1073\/pnas.77.2.1154","article-title":"Altered nerve growth factor in fibroblasts from patients with familial dysautonomia","volume":"77","author":"Schwartz","year":"1980","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/302339_bib38","doi-asserted-by":"crossref","first-page":"730","DOI":"10.1016\/0888-7543(95)80019-I","article-title":"The human gene for neurotrophic tyrosine kinase receptor type 2 is located on chromosome 9 but is not the familial dysautonomia gene","volume":"25","author":"Slaugenhaupt","year":"1995","journal-title":"Genomics"},{"key":"10.1086\/302339_bib37","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1111\/j.1469-1809.1995.tb00756.x","article-title":"Physical map surrounding the familial dysautonomia gene. In: Report and abstracts of the 4th International Workshop on Chromosome 9: Williamsburg, Virginia, USA, April 23-25, 1995","volume":"59","author":"Slaugenhaupt","year":"1995","journal-title":"Ann Hum Genet"},{"key":"10.1086\/302339_bib39","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1159\/000114737","article-title":"A case of new dysautonomia-like disorder found in Japan. I. Clinical and metabolic studies","volume":"14","author":"Suzuki","year":"1976","journal-title":"Eur Neurol"},{"key":"10.1086\/302339_bib40","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1056\/NEJM199007053230102","article-title":"Screening for carriers of Tay-Sachs disease among Ashkenazi Jews: a comparison of DNA-based and enzyme-based tests","volume":"323","author":"Triggs-Raine","year":"1990","journal-title":"New Engl J Med"},{"key":"10.1086\/302339_bib41","first-page":"506","article-title":"Chelex 100 as a medium for simple extraction of DNA for PCR-based typing from forensic material","volume":"10","author":"Walsh","year":"1991","journal-title":"Biotechniques"},{"key":"10.1086\/302339_bib42","doi-asserted-by":"crossref","first-page":"794","DOI":"10.1038\/359794a0","article-title":"A second-generation linkage map of the human genome","volume":"359","author":"Weissenbach","year":"1992","journal-title":"Nature"},{"key":"10.1086\/302339_bib43","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1016\/0006-8993(86)90983-2","article-title":"Reduced neuronotrophic activity of fibroblasts from individuals with dysautonomia in cultures of newborn mouse sensory ganglion cells","volume":"364","author":"Wrathall","year":"1986","journal-title":"Brain Res"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707631760?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707631760?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,1,4]],"date-time":"2024-01-04T19:33:41Z","timestamp":1704396821000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707631760"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1999,4]]},"references-count":42,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1999,4]]}},"alternative-id":["S0002929707631760"],"URL":"https:\/\/doi.org\/10.1086\/302339","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[1999,4]]}}}