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Literatur
Rothnagel, J. A., H. Traupe, S. Wojcik, M. Huber, D. Hohl, M.R. Pittelkow, H. Saeki, Y. Ishibashi and D.R. Roop, Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens. Nature Genetics 7 (1994) 485–489.
Williams, M. L. and P.M. Elias, Ichthyosis. Genetic heterogeneity, genodermatoses and genetic counselling. Arch. Derm. 122 (1986) 529–531.
Basler, E., M. Grompe, G. Parenti, J. Yates and A. Ballabio, Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis. Am.J.Hum. Genet. 50 (1992) 483–491.
Bonifas, J.M. and E.H. Epstein jr., Detection of carriers for X-linked ichthyosis by Southern blot analysis and identification of one family with a de novo mutation. J.Invest. Dermatol. 95 (1990) 16–19.
Newman,R.S., N.A. Affara, J.R.W. Yates et al., Physical mapping of deletion breakpoints in patients with X-linked ichthyosis: Evidence for clustering of distal and proximal breakpoints. Proc.Roy.Soc. London B. Biol.Sci. 242 (1990) 231–239.
Voß, M., Was ist aus der Ichthyosis congenita geworden ? Derm.Mschr. 177 (1991) 349–353.
Arnold, M. L. and I. Anton-Lamprecht, Problems in prenatal diagnosis of the ichthyosis congenita group. Hum.Genet. 71 (1985) 301–311.
Lawlor,F., Progress of a harlequin fetus to non-bullous ichthyosiform erythroderma. Pediatrics 82 (1988) 870–873.
Schnyder, U.W., Die hereditaren Iehthyosen. Schweiz. Rundschau Med. 75 (1986) 185–191.
Williams, M. L. and P.M. Elias, Ichthyosis: genetic heterogeneity, genodermatoses, and genetic counselling. Arch. Derm. 122 (1986) 529–531.
Levy, M., Do genetic factors play a role in Bergers’s disease ? Pediat.Nephrol. 1 (1987) 447–454.
Li, P.K.-T., A.P. Burns, A.K.L. So et al., Familial IgA nephropathy: A study of HLA class II allogenotypes in a Chinese kindred. Am.J.Kidney Dis. 20 (1992) 458–462.
Waldo, F.B., L. Beischel and C.J. West, IgA synthesis by lymphocytes from patients with IgA nephropathy and their relatives. Kidney Int. 29 (1986) 1229–1233
Welch, T.R., A. Berry and L.S. Beischel, C4 isotype deficiency in IgA nephropathy. Pediat. Nephrol. 1 (1987) 136–139.
Wyatt, R.J., M.L. Rivas, B.A. Julian et al. Regionalization in hereditary IgA nephropathy. Am.J.Hum.Genet. 4 (1987) 3650.
Ledoux, P., Ch. Scriver and P. Hechtman, Four novel PEPD allels causing prolidase deficiency. Am.J.Hum.Genet. 54 (1994) 1014–1021.
Tanoue, A., F. Endo, A. Kitano and I. Matsuda, A single nucleotide change in the prolidase gene in fibroblasts from two patients with polypeptide positive prolidase deficiency. Expression of the mutant enzyme in NIH 3T3 cells. J.Clin.Invest. 86 (1990) 351–355.
Tanoue, A., F. Endo and I. Matsuda, Structural organization of the gene for human prolidase (peptidase D) and demonstration of a partial gene deletion in a patient with prolidase deficiency. J.Biol.Chem. 265 (1990) 11306–11311.
Gimelli, G., P. Varone, A. Pezzolo, M. Lerone and V. Pistoia, ICF syndrome with variable expression in sibs. J.Med.Genet. 30 (1993) 429–432.
Gupta, S., New concepts in immunodeficieny disease. Immunol.Today. 11 (1990) 344–346.
Brooks, E.G., F.C. Schalstieg, D.P. Wirt et al., A novel X-linked combined immunodeficiency disease. J.Clin.Invest. 56 (1990) 1623–1631.
Gougeon, M.L., G. Drean, F. Le Deist et al., Human severe combined immunodeficiency disease: Phenotypic and functional characteristics of peripheral В lymphocytes. J.Immunol. 145 (1990) 2873–2879.
Levinsky, R. J. and K. Tiedemann, Successful bone-marrow transplantation for reticular dysgenesis. Lancet 1983, 1, 671–673.
McDermot, K.D., R.M. Winter, J.S. Wigglesworth and S. Schwaber, J. and F.S. Rosen, X chromosome linked immunodeficiency. Immunodefic.Rev. 2 (1990) 233–251.
Puck, J.M., Molecular and genetic basis of X- linked immunodeficiency disorder. J.Clin.Immunol. 14 (1994) 81–89.
Puck, J.M., S.M. Deschenes, J.C. Porter et al., The interleukin-2 receptor gamma chain maps to Xql3.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. Hum. Mol.Genet. 2 (1993) 1099–1104.
Strobel, Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora: Report of two patients and review. J.Med.Genet. 28 (1991) 10–17.
Battistelle, PA., A. Peserico, P. Bertoli et al., Hypomelanosis of Ito and hemimegalencephaly. Child’s Nerv.Syst. 6 (1990) 421–423.
Ritter, C.L., M.W. Steele, S.L. Wenger and B.A. Cohen, Chromosome mosaicism in hypomelanosis of Ito. Am.J.Med.Ge net. 35 (1990) 14–17.
Rott, H.D., G.E. Lang, W. Huk and R.A. Pfeiffer, Hypomelanosis of Ito (incontinentia pigmenti achromians). Ophthalmological evidence for somatic mosaicism. Ophthalmic Paediatr. Genet. 11 (1990) 273–279.
Vormittag, W., C. Ensinger and M. Raff, Cytogenetic and dermatoglyphic findings in a familial case of hypomelanosis of Ito (incontinentia pigmenti achromians). Clin.Genet. 41 (1992) 309–314.
Willliams, D.W. II and A.D. Elster, Cranial MR imaging in hypomelanosis of Ito. J.Comput.Ass.Tomogr. 14 (1990) 981–983.
Medori, R., P. Montagna, H.J. Trischler et al., Fatal familial insomnia: A second kindred with mutation of prion gene at codon 178. Neurology 42 (1992) 669–670.
Glass, LA., E.M. White, M.J. Pope et al., Linkage analysis in a large family with nonspecific X-linked mental retardation. Am. J. Med. Genet. 38 (1991) 240–243.
Miles, J.H., and N.J. Carpenter, Unique X-linked mental retardation syndrome with fingertip arches and contractures linked to Xq21.31. Am. J. Med. Genet. 38 (1991) 215–223.
Neri, G., F. Gurrieri, A. Gal and H.A. Lubs, XLMR genes: Update 1990. Am. J. Med. Genet. 38 (1991) 186–189.
Pettigrew, A.L., L.G. Jackson and D.H. Ledbetter, New X-linked mental retardation disorder with Dandy-Walker malformation, basal ganglia disease, and seizures. Am. J. Med. Genet. 38 (1991) 200–207.
Samanns,C., R.Albrecht, M.Neugebauer et al., Gene for non-specific mental retardation maps in the pericentric region. Am. J. Med. Genet. 38 (1991) 224–227.
Watty, A., F. Prieto, M. Beneyto et al., Gene localization in a family with X-linked syndromal mental retardation (Prieto syndrome). Am. J. Med. Genet. 38 (1991) 234–239.
Blum, M., D.M. Grant, W. McBride, M. Heim and U.A. Meyer, Human arylamine N-aeetyltransferase genes: isolation, chromosomal localization, and functional expression. DNA Cell Biol. 9 (1990) 193–203.
Vatsis, K.P., K.J. Martell and W.W. Weber, Diverse point mutations in the human gene for polymorphic N-acetyltransferase. Proc. Nat. Acad. Sci. USA 88 (1991) 6333–6337.
Vockley, J., M. Nagao, B. Parimoo and K. Tanaka, The variant human isovaleryl-CoA dehydrogenase gene responsible for type II isovaleric acidemia determines an RNA splicing error leading to the deletion of the entire second coding exon and the production of a truncated precursor protein that interacts poorly with mitochondrial important receptors. J.Biol. Chem. 267 (1992) 2494–2501.
Baumgartner, A. und G. Grzejszezyk, Das Ivemark-Syndrom. Zbl. Gynakol. 108 (1986) 990–994.
Distefano, G.M.G. Romero, S. Grasso et al., Dextrocardia with and without situs viscerum inversus in two sibs. Am.J. Med. Genet. 27 (1987) 929–934.
Ben-Yoseph, Y., D.A. Mitchell, R.M. Jager, J.T. Wei, T.-H. Chen and L.Y. Shih, Mucolipidoses II and III variants with normal N-acetylglucosamine I-phosphotransferase activity toward amethylmannoside are due to nonallelic mutations. Am.J.Hum.Genet. 50 (1992) 137–144.
Poenaru, L., C. Mezard, S. Akli et al., Prenatal diagnosis of mucolipidosis type II on first-trimester amniotic fluid. Prenatal Diagn. 70 (1990) 231–235.
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Witkowski, R., Prokop, O., Ullrich, E. (1995). I. In: Lexikon der Syndrome und Fehlbildungen. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-97628-5_13
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