{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T12:05:43Z","timestamp":1770984343708,"version":"3.50.1"},"reference-count":32,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2000,7,1]],"date-time":"2000-07-01T00:00:00Z","timestamp":962409600000},"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":4766,"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":[[2000,7]]},"DOI":"10.1086\/302965","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T14:47:54Z","timestamp":1027694874000},"page":"14-22","source":"Crossref","is-referenced-by-count":39,"title":["Additional Copies of the Proteolipid Protein Gene Causing Pelizaeus-Merzbacher Disease Arise by Separate Integration into the X Chromosome"],"prefix":"10.1016","volume":"67","author":[{"given":"M.E.","family":"Hodes","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karen","family":"Woodward","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nancy B.","family":"Spinner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beverly S.","family":"Emanuel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agnes","family":"Enrico-Simon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Kamholz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dwight","family":"Stambolian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elaine H.","family":"Zackai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victoria M.","family":"Pratt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.T.","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kerry","family":"Crandall","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen R.","family":"Dlouhy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sue","family":"Malcolm","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1086\/302965_bib1","doi-asserted-by":"crossref","first-page":"2295","DOI":"10.1212\/WNL.42.12.2295","article-title":"Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: evidence for gene dosage as a mechanism in CMT1A","volume":"42","author":"Chance","year":"1992","journal-title":"Neurology"},{"key":"10.1086\/302965_bib2","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1007\/BF00284707","article-title":"An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region","volume":"77","author":"Cremers","year":"1987","journal-title":"Hum Genet"},{"key":"10.1086\/302965_bib3","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1038\/ng0494-333","article-title":"Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease","volume":"6","author":"Ellis","year":"1994","journal-title":"Nat Genet"},{"key":"10.1086\/302965_bib4","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1093\/brain\/118.3.809","article-title":"From the syndrome of Charcot, Marie and Tooth to disorders of peripheral myelin proteins","volume":"118","author":"Harding","year":"1995","journal-title":"Brain"},{"key":"10.1086\/302965_bib5","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1111\/j.1365-2990.1995.tb01036.x","article-title":"A case of Pelizaeus-Merzbacher disease showing increased dosage of the proteolipid protein gene","volume":"21","author":"Harding","year":"1995","journal-title":"Neuropathol Appl Neurobiol"},{"key":"10.1086\/302965_bib6","series-title":"Neurobase","article-title":"Pelizaeus-Merzbacher disease","author":"Hodes","year":"1998"},{"key":"10.1086\/302965_bib7","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1159\/000111361","article-title":"The genetics of Pelizaeus-Merzbacher disease","volume":"15","author":"Hodes","year":"1993","journal-title":"Dev Neurosci"},{"key":"10.1086\/302965_bib8","doi-asserted-by":"crossref","first-page":"8128","DOI":"10.1073\/pnas.86.20.8128","article-title":"Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder","volume":"86","author":"Hudson","year":"1989","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/302965_bib9","doi-asserted-by":"crossref","first-page":"624","DOI":"10.1002\/1531-8249(199905)45:5<624::AID-ANA11>3.0.CO;2-1","article-title":"Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations","volume":"45","author":"Inoue","year":"1999","journal-title":"Ann Neurol"},{"key":"10.1086\/302965_bib10","first-page":"32","article-title":"A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR","volume":"59","author":"Inoue","year":"1996","journal-title":"Am J Hum Genet"},{"key":"10.1086\/302965_bib11","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1016\/S0959-437X(98)80092-0","article-title":"Mobile elements and disease","volume":"8","author":"Kazazian","year":"1998","journal-title":"Curr Opin Genet Dev"},{"key":"10.1086\/302965_bib12","doi-asserted-by":"crossref","first-page":"2327","DOI":"10.1093\/hmg\/4.12.2327","article-title":"Analysis of the CMT1A-REP repeat: mapping crossover breakpoints in CMT1A and HNPP","volume":"4","author":"Kiyosawa","year":"1995","journal-title":"Hum Mol Genet"},{"key":"10.1086\/302965_bib13","doi-asserted-by":"crossref","first-page":"1611","DOI":"10.1093\/hmg\/7.10.1611","article-title":"Position effect in human genetic disease","volume":"7","author":"Kleinjan","year":"1998","journal-title":"Hum Mol Genet"},{"key":"10.1086\/302965_bib14","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1093\/hmg\/7.1.141","article-title":"Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination","volume":"7","author":"Lopes","year":"1998","journal-title":"Hum Mol Genet"},{"key":"10.1086\/302965_bib15","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1007\/BF00290964","article-title":"The gene encoding for the major brain proteolipid (PLP) maps on the q22 band of the human X chromosome","volume":"72","author":"Mattei","year":"1986","journal-title":"Hum Genet"},{"key":"10.1086\/302965_bib16","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1007\/BF00207388","article-title":"Dinucleotide repeat polymorphism in the proteolipoprotein (PLP) gene","volume":"96","author":"Mimault","year":"1995","journal-title":"Hum Genet"},{"key":"10.1086\/302965_bib17","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1177\/107385849600200111","article-title":"X-linked developmental defects of myelination: from mouse mutants to human genetic diseases","volume":"2","author":"Nave","year":"1996","journal-title":"Neuroscientist"},{"key":"10.1086\/302965_bib18","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1002\/ajmg.1320440414","article-title":"Charcot-Marie-Tooth neuropathy type 1A mutation: apparent crossovers with D17S122 are due to a duplication","volume":"44","author":"Nicholson","year":"1992","journal-title":"Am J Med Genet"},{"key":"10.1086\/302965_bib19","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1086\/302245","article-title":"De novo Alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome","volume":"64","author":"Oldridge","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1086\/302965_bib20","doi-asserted-by":"crossref","first-page":"874","DOI":"10.1016\/0888-7543(89)90129-8","article-title":"Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction","volume":"5","author":"Orita","year":"1989","journal-title":"Genomics"},{"key":"10.1086\/302965_bib21","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1007\/BF00208978","article-title":"MvaI polymorphism in the proteolipid protein (PLP) gene","volume":"95","author":"Osaka","year":"1995","journal-title":"Hum Genet"},{"key":"10.1086\/302965_bib22","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1002\/(SICI)1096-8628(19960202)61:4<377::AID-AJMG13>3.0.CO;2-P","article-title":"Developmental profile in a patient with monosomy 10q and dup(17p) associated with a peripheral neuropathy","volume":"61","author":"Pellegrino","year":"1996","journal-title":"Am J Med Genet"},{"key":"10.1086\/302965_bib23","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1136\/jmg.29.1.5","article-title":"Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group","volume":"29","author":"Raeymaekers","year":"1992","journal-title":"J Med Genet"},{"key":"10.1086\/302965_bib24","first-page":"1355","article-title":"Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease","volume":"49","author":"Raskind","year":"1991","journal-title":"Am J Hum Genet"},{"key":"10.1086\/302965_bib25","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.1086\/301827","article-title":"Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients","volume":"62","author":"Reiter","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1086\/302965_bib26","series-title":"Molecular cloning","author":"Sambrook","year":"1989"},{"key":"10.1086\/302965_bib27","doi-asserted-by":"crossref","first-page":"1749","DOI":"10.1212\/WNL.50.6.1749","article-title":"Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease","volume":"50","author":"Sistermans","year":"1998","journal-title":"Neurology"},{"key":"10.1086\/302965_bib28","doi-asserted-by":"crossref","first-page":"9427","DOI":"10.1073\/pnas.86.23.9427","article-title":"Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant","volume":"86","author":"Trofatter","year":"1989","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/302965_bib29","doi-asserted-by":"crossref","first-page":"6057","DOI":"10.1093\/nar\/19.21.6057-a","article-title":"AhaII polymorphism in human X-linked proteolipid protein gene (PLP)","volume":"19","author":"Trofatter","year":"1991","journal-title":"Nucleic Acids Res"},{"key":"10.1086\/302965_bib30","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1007\/BF00217365","article-title":"Charcot-Marie-Tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2\u219212","volume":"91","author":"Upadhyaya","year":"1993","journal-title":"Hum Genet"},{"key":"10.1086\/302965_bib31","doi-asserted-by":"crossref","first-page":"940","DOI":"10.1126\/science.3840606","article-title":"Assignment of the gene for myelin proteolipid protein to the X chromosome: implications for X-linked myelin disorders","volume":"230","author":"Willard","year":"1985","journal-title":"Science"},{"key":"10.1086\/302965_bib32","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1086\/301933","article-title":"Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH","volume":"63","author":"Woodward","year":"1998","journal-title":"Am J Hum Genet"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707624288?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707624288?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,4,11]],"date-time":"2019-04-11T13:26:44Z","timestamp":1554989204000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707624288"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,7]]},"references-count":32,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2000,7]]}},"alternative-id":["S0002929707624288"],"URL":"https:\/\/doi.org\/10.1086\/302965","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2000,7]]}}}