DOI: 10.1111/1523-1747.ep12371723. Prenatal Diagnosis of Epidermolytic Hyperkeratosis by Direct Gene Sequencing

Prenatal Diagnosis of Epidermolytic Hyperkeratosis by Direct Gene Sequencing

10.1111/1523-1747.ep12371723

Crossref journal-article

Elsevier BV

Journal of Investigative Dermatology (78)

Bibliography

Rothnagel, J. A., Longley, M. A., Holder, R. A., KÃ¼ster, W., & Roop, D. R. (1994). Prenatal Diagnosis of Epidermolytic Hyperkeratosis by Direct Gene Sequencing. Journal of Investigative Dermatology, 102(1), 13â16.

Authors 5

Joseph A. Rothnagel (first)
Mary A. Longley (additional)
Rhanda A. Holder (additional)
Wolfgang Küster (additional)
Dennis R. Roop (additional)

References 29 Referenced 54

{'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'} / In: Mendelian Inheritance in Man, 10th ed / Catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes by McKusick (1992)
{'key': '10.1111/1523-1747.ep12371723_bb0015', 'first-page': '1', 'article-title': 'Erythrodermic congénitale ichthyosiforme avec hyperépidermotrophic', 'volume': '4', 'author': 'Brocq', 'year': '1902', 'journal-title': 'Ann Dermatol Syph'} / Ann Dermatol Syph / Erythrodermic congénitale ichthyosiforme avec hyperépidermotrophic by Brocq (1902)
10.1001/archderm.1966.01600260005001 / Arch Dermatol / Ichthyosiform dermatoses. Classification based on anatomic and biometric observations by Frost (1966)
10.1007/BF00517258 / Arch Klin Exp Dermatol / Zur ultrastrukrur und histochemic der granulösen degeneration bei bullöser erythrodermie congénitale ichthyosiforme by Weibel (1966)
10.1007/BF00561188 / Arch Dermatol Res / Ultrastructure of inborn errors of keratinization by Anton-Lamprecht (1974)
10.1111/1523-1747.ep12540961 / J Invest Dermatol / Genetically induced abnormalities of epidermal differentiation and ultrastructure in ichthyoses and epidermolyses: pathogenesis, heterogeneity, fetal manifestation, and prenatal diagnosis by Anton-Lamprecht (1983)
10.1111/1523-1747.ep12611391 / J Invest Dermatol / Selective involvement of keratins K1 and K10 in the cytoskeletal abnormality of epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma) by Ishida-Yamamoto (1992)
10.1111/1523-1747.ep12658061 / J Invest Dermatol / Linkage of epidermolytic hyperkeratosis phenotype and the region of the type II keratin gene cluster on chromosome 12 by Bonifas (1992)
10.1038/ng0792-301 / Nature Genet / Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q by Compton (1992)
10.1172/JCI116193 / J Clin Invest / Epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma). Genetic linkage to chromosome 12q in the region of the type II keratin gene cluster by Pulkkinen (1993)
10.1126/science.257.5073.1128 / Science / Mutations in the rod domain of keratin 1 and 10 in epidermolytic hyperkeratosis by Rothnagel (1992)
10.1016/0092-8674(92)90314-3 / Cell / The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes by Cheng (1992)
10.1016/0092-8674(92)90315-4 / Cell / A leucine to proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis by Chipev (1992)
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 (10.1093/hmg/2.12.2147)
10.1111/1523-1747.ep12475665 / J Invest Dermatol / Structure, function and dynamics of keratin intermediate filaments by Steinert (1993)
10.1056/NEJM198001103020205 / N Engl J Med / Prenatal diagnosis of congenital bullous ichthyosiform erythroderma (epidermolytic hyperkeratosis) by fetal skin biopsy by Golbus (1980)
10.1007/BF00295479 / Hum Genet / Prenatal diagnosis of genetic disorders of the skin by means of electron microscopy by Anton-Lamprecht (1981)
10.1111/1523-1747.ep12534504 / J Invest Dermatol / Epidermolytic hyperkeratosis: ultrastructure and biochemistry of skin and amniotic fluid cells from two affected fetuses and a newborn infant by Holbrook (1983)
10.1136/jmg.23.1.46 / J Med Genet / Prenatal diagnosis of bullous ichthyosiform erythroderma: detection of tonofilament clumps in fetal epidermal and amniotic fluid cells by Eady (1986)
{'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'} / Adv Dermatol / Prenatal diagnosis of severe dermatologic diseases by Sybert (1992)
10.1083/jcb.101.4.1257 / J Cell Biol / Expression of epidermal keratins and filaggrin during human fetal skin development by Dale (1985)
{'key': '10.1111/1523-1747.ep12371723_bb0115', 'series-title': 'Molecular Cloning, a Laboratory Manual, 2nd ed', 'author': 'Sambrook', 'year': '1989'} / Molecular Cloning, a Laboratory Manual, 2nd ed by Sambrook (1989)
10.1016/0022-2836(88)90045-9 / J Mol Biol / Identification of an orthologous mammalian cytokeratin gene by Rieger (1988)
10.1016/0888-7543(90)90545-6 / Genomics / Multiplex DNA deletion, detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in lesch-nyhan families by Gibbs (1990)
10.1016/0014-4827(92)90412-2 / Exp Cell Res / Characterization of human cytokeratin 2, an epidermal cytoskeletal protein synthesized late during differentiation by Collin (1992)
10.1016/0141-8130(88)90015-3 / Int J Biol Macromol / Intermediate filament structure: 3. Analysis of sequence homologies by Conway (1988)
10.1006/jmbi.1993.1161 / J Mol Biol / Keratin intermediate filament structure. Crosslinking studies yield quantitative information on molecular dimensions and mechanism of assembly by Steinert (1993)
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
10.1056/NEJM199209243271301 / N Engl J Med / Birth of a normal girl after in vitro fertilization and preimplanatation diagnostic testing for cystic fibrosis by Handyside (1992)

Dates

Type	When
Created	21 years, 1 month ago (July 12, 2004, 7 a.m.)
Deposited	6 years, 6 months ago (Feb. 5, 2019, 2:28 p.m.)
Indexed	1 year, 4 months ago (April 13, 2024, 9:33 a.m.)
Issued	31 years, 7 months ago (Jan. 1, 1994)
Published	31 years, 7 months ago (Jan. 1, 1994)
Published Print	31 years, 7 months ago (Jan. 1, 1994)

Funders 0

None

BibTeX

@article{Rothnagel_1994, title={Prenatal Diagnosis of Epidermolytic Hyperkeratosis by Direct Gene Sequencing}, volume={102}, ISSN={0022-202X}, url={http://dx.doi.org/10.1111/1523-1747.ep12371723}, DOI={10.1111/1523-1747.ep12371723}, number={1}, journal={Journal of Investigative Dermatology}, publisher={Elsevier BV}, author={Rothnagel, Joseph A. and Longley, Mary A. and Holder, Rhanda A. and Küster, Wolfgang and Roop, Dennis R.}, year={1994}, month=jan, pages={13–16} }

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        1994,
        1
      ]
    ]
  }
}