{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T15:46:46Z","timestamp":1759333606751},"reference-count":29,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[1994,1,1]],"date-time":"1994-01-01T00:00:00Z","timestamp":757382400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,12,30]],"date-time":"2015-12-30T00:00:00Z","timestamp":1451433600000},"content-version":"vor","delay-in-days":8033,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Investigative Dermatology"],"published-print":{"date-parts":[[1994,1]]},"DOI":"10.1111\/1523-1747.ep12371723","type":"journal-article","created":{"date-parts":[[2004,7,12]],"date-time":"2004-07-12T11:00:02Z","timestamp":1089630002000},"page":"13-16","source":"Crossref","is-referenced-by-count":55,"title":["Prenatal Diagnosis of Epidermolytic Hyperkeratosis by Direct Gene Sequencing"],"prefix":"10.1016","volume":"102","author":[{"given":"Joseph A.","family":"Rothnagel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary A.","family":"Longley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rhanda A.","family":"Holder","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wolfgang","family":"K\u00fcster","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dennis R.","family":"Roop","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1111\/1523-1747.ep12371723_bb0010","series-title":"In: Mendelian Inheritance in Man, 10th ed","first-page":"170","article-title":"Catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes","author":"McKusick","year":"1992"},{"key":"10.1111\/1523-1747.ep12371723_bb0015","first-page":"1","article-title":"Erythrodermic cong\u00e9nitale ichthyosiforme avec hyper\u00e9pidermotrophic","volume":"4","author":"Brocq","year":"1902","journal-title":"Ann Dermatol Syph"},{"key":"10.1111\/1523-1747.ep12371723_bb0020","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1001\/archderm.1966.01600260005001","article-title":"Ichthyosiform dermatoses. Classification based on anatomic and biometric observations","volume":"94","author":"Frost","year":"1966","journal-title":"Arch Dermatol"},{"key":"10.1111\/1523-1747.ep12371723_bb0025","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1007\/BF00517258","article-title":"Zur ultrastrukrur und histochemic der granul\u00f6sen degeneration bei bull\u00f6ser erythrodermie cong\u00e9nitale ichthyosiforme","volume":"255","author":"Weibel","year":"1966","journal-title":"Arch Klin Exp Dermatol"},{"key":"10.1111\/1523-1747.ep12371723_bb0030","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1007\/BF00561188","article-title":"Ultrastructure of inborn errors of keratinization","volume":"250","author":"Anton-Lamprecht","year":"1974","journal-title":"Arch Dermatol Res"},{"key":"10.1111\/1523-1747.ep12371723_bb0035","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1111\/1523-1747.ep12540961","article-title":"Genetically induced abnormalities of epidermal differentiation and ultrastructure in ichthyoses and epidermolyses: pathogenesis, heterogeneity, fetal manifestation, and prenatal diagnosis","volume":"81","author":"Anton-Lamprecht","year":"1983","journal-title":"J Invest Dermatol"},{"key":"10.1111\/1523-1747.ep12371723_bb0040","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1111\/1523-1747.ep12611391","article-title":"Selective involvement of keratins K1 and K10 in the cytoskeletal abnormality of epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma)","volume":"99","author":"Ishida-Yamamoto","year":"1992","journal-title":"J Invest Dermatol"},{"key":"10.1111\/1523-1747.ep12371723_bb0045","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1111\/1523-1747.ep12658061","article-title":"Linkage of epidermolytic hyperkeratosis phenotype and the region of the type II keratin gene cluster on chromosome 12","volume":"99","author":"Bonifas","year":"1992","journal-title":"J Invest Dermatol"},{"key":"10.1111\/1523-1747.ep12371723_bb0050","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1038\/ng0792-301","article-title":"Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q","volume":"1","author":"Compton","year":"1992","journal-title":"Nature Genet"},{"key":"10.1111\/1523-1747.ep12371723_bb0055","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1172\/JCI116193","article-title":"Epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma). Genetic linkage to chromosome 12q in the region of the type II keratin gene cluster","volume":"91","author":"Pulkkinen","year":"1993","journal-title":"J Clin Invest"},{"key":"10.1111\/1523-1747.ep12371723_bb0060","doi-asserted-by":"crossref","first-page":"1128","DOI":"10.1126\/science.257.5073.1128","article-title":"Mutations in the rod domain of keratin 1 and 10 in epidermolytic hyperkeratosis","volume":"257","author":"Rothnagel","year":"1992","journal-title":"Science"},{"key":"10.1111\/1523-1747.ep12371723_bb0065","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1016\/0092-8674(92)90314-3","article-title":"The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes","volume":"70","author":"Cheng","year":"1992","journal-title":"Cell"},{"key":"10.1111\/1523-1747.ep12371723_bb0070","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1016\/0092-8674(92)90315-4","article-title":"A leucine to proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis","volume":"70","author":"Chipev","year":"1992","journal-title":"Cell"},{"key":"10.1111\/1523-1747.ep12371723_bb0075","doi-asserted-by":"crossref","unstructured":"Rothnagel J.A., Fisher M.P., Axtell S.M., Pittelkow M.R., Anton-Lamprecht I., Huber M., Hohl D., Roop D.R.: A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis. Hum Mol Genet, in press","DOI":"10.1093\/hmg\/2.12.2147"},{"key":"10.1111\/1523-1747.ep12371723_bb0080","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1111\/1523-1747.ep12475665","article-title":"Structure, function and dynamics of keratin intermediate filaments","volume":"100","author":"Steinert","year":"1993","journal-title":"J Invest Dermatol"},{"key":"10.1111\/1523-1747.ep12371723_bb0085","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1056\/NEJM198001103020205","article-title":"Prenatal diagnosis of congenital bullous ichthyosiform erythroderma (epidermolytic hyperkeratosis) by fetal skin biopsy","volume":"302","author":"Golbus","year":"1980","journal-title":"N Engl J Med"},{"key":"10.1111\/1523-1747.ep12371723_bb0090","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1007\/BF00295479","article-title":"Prenatal diagnosis of genetic disorders of the skin by means of electron microscopy","volume":"59","author":"Anton-Lamprecht","year":"1981","journal-title":"Hum Genet"},{"key":"10.1111\/1523-1747.ep12371723_bb0095","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1111\/1523-1747.ep12534504","article-title":"Epidermolytic hyperkeratosis: ultrastructure and biochemistry of skin and amniotic fluid cells from two affected fetuses and a newborn infant","volume":"80","author":"Holbrook","year":"1983","journal-title":"J Invest Dermatol"},{"key":"10.1111\/1523-1747.ep12371723_bb0100","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1136\/jmg.23.1.46","article-title":"Prenatal diagnosis of bullous ichthyosiform erythroderma: detection of tonofilament clumps in fetal epidermal and amniotic fluid cells","volume":"23","author":"Eady","year":"1986","journal-title":"J Med Genet"},{"key":"10.1111\/1523-1747.ep12371723_bb0105","first-page":"179","article-title":"Prenatal diagnosis of severe dermatologic diseases","volume":"7","author":"Sybert","year":"1992","journal-title":"Adv Dermatol"},{"key":"10.1111\/1523-1747.ep12371723_bb0110","doi-asserted-by":"crossref","first-page":"1257","DOI":"10.1083\/jcb.101.4.1257","article-title":"Expression of epidermal keratins and filaggrin during human fetal skin development","volume":"101","author":"Dale","year":"1985","journal-title":"J Cell Biol"},{"key":"10.1111\/1523-1747.ep12371723_bb0115","series-title":"Molecular Cloning, a Laboratory Manual, 2nd ed","author":"Sambrook","year":"1989"},{"key":"10.1111\/1523-1747.ep12371723_bb0120","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1016\/0022-2836(88)90045-9","article-title":"Identification of an orthologous mammalian cytokeratin gene","volume":"204","author":"Rieger","year":"1988","journal-title":"J Mol Biol"},{"key":"10.1111\/1523-1747.ep12371723_bb0125","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1016\/0888-7543(90)90545-6","article-title":"Multiplex DNA deletion, detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in lesch-nyhan families","volume":"7","author":"Gibbs","year":"1990","journal-title":"Genomics"},{"key":"10.1111\/1523-1747.ep12371723_bb0130","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1016\/0014-4827(92)90412-2","article-title":"Characterization of human cytokeratin 2, an epidermal cytoskeletal protein synthesized late during differentiation","volume":"202","author":"Collin","year":"1992","journal-title":"Exp Cell Res"},{"key":"10.1111\/1523-1747.ep12371723_bb0135","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/0141-8130(88)90015-3","article-title":"Intermediate filament structure: 3. Analysis of sequence homologies","volume":"10","author":"Conway","year":"1988","journal-title":"Int J Biol Macromol"},{"key":"10.1111\/1523-1747.ep12371723_bb0140","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1006\/jmbi.1993.1161","article-title":"Keratin intermediate filament structure. Crosslinking studies yield quantitative information on molecular dimensions and mechanism of assembly","volume":"230","author":"Steinert","year":"1993","journal-title":"J Mol Biol"},{"key":"10.1111\/1523-1747.ep12371723_bb0145","unstructured":"Langbein L., Heid H.W., Moll I.: Franke W.W. Molecular characterization of the body site-specific human epidermal cytokeratin 9: cDNA cloning, amino acid sequence, and tissue specificity of gene expression Differentiation, in press"},{"key":"10.1111\/1523-1747.ep12371723_bb0150","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1056\/NEJM199209243271301","article-title":"Birth of a normal girl after in vitro fertilization and preimplanatation diagnostic testing for cystic fibrosis","volume":"327","author":"Handyside","year":"1992","journal-title":"N Engl J Med"}],"container-title":["Journal of Investigative Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X94925534?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X94925534?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,2,5]],"date-time":"2019-02-05T19:28:37Z","timestamp":1549394917000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022202X94925534"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,1]]},"references-count":29,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1994,1]]}},"alternative-id":["S0022202X94925534"],"URL":"https:\/\/doi.org\/10.1111\/1523-1747.ep12371723","relation":{},"ISSN":["0022-202X"],"issn-type":[{"value":"0022-202X","type":"print"}],"subject":[],"published":{"date-parts":[[1994,1]]}}}