Anton-Lamprecht I - Search Results

1

Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis.

Dahlqvist J, Klar J, Hausser I, Anton-Lamprecht I, Pigg MH, Gedde-Dahl T Jr, Gånemo A, Vahlquist A, Dahl N. Dahlqvist J, et al. Among authors: anton lamprecht i. J Med Genet. 2007 Oct;44(10):615-20. doi: 10.1136/jmg.2007.050542. Epub 2007 Jun 8. J Med Genet. 2007. PMID: 17557927 Free PMC article.

2

Ullrich congenital muscular dystrophy: connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes.

Kirschner J, Hausser I, Zou Y, Schreiber G, Christen HJ, Brown SC, Anton-Lamprecht I, Muntoni F, Hanefeld F, Bönnemann CG. Kirschner J, et al. Among authors: anton lamprecht i. Am J Med Genet A. 2005 Jan 30;132A(3):296-301. doi: 10.1002/ajmg.a.30443. Am J Med Genet A. 2005. PMID: 15690374

3

Analysis of the LAMB3 gene in a junctional epidermolysis bullosa patient reveals exonic splicing and allele-specific nonsense-mediated mRNA decay.

Buchroithner B, Klausegger A, Ebschner U, Anton-Lamprecht I, Pohla-Gubo G, Lanschuetzer CM, Laimer M, Hintner H, Bauer JW. Buchroithner B, et al. Among authors: anton lamprecht i. Lab Invest. 2004 Oct;84(10):1279-88. doi: 10.1038/labinvest.3700164. Lab Invest. 2004. PMID: 15311214 Free article.

4

A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations.

Koss-Harnes D, Høyheim B, Anton-Lamprecht I, Gjesti A, Jørgensen RS, Jahnsen FL, Olaisen B, Wiche G, Gedde-Dahl T Jr. Koss-Harnes D, et al. Among authors: anton lamprecht i. J Invest Dermatol. 2002 Jan;118(1):87-93. doi: 10.1046/j.0022-202x.2001.01591.x. J Invest Dermatol. 2002. PMID: 11851880 Free article.

5

Cathepsin L deficiency as molecular defect of furless: hyperproliferation of keratinocytes and pertubation of hair follicle cycling.

Roth W, Deussing J, Botchkarev VA, Pauly-Evers M, Saftig P, Hafner A, Schmidt P, Schmahl W, Scherer J, Anton-Lamprecht I, Von Figura K, Paus R, Peters C. Roth W, et al. Among authors: anton lamprecht i. FASEB J. 2000 Oct;14(13):2075-86. doi: 10.1096/fj.99-0970com. FASEB J. 2000. PMID: 11023992

6

[Sjögren-Larsson syndrome].

Möhrenschlager M, Rizzo WB, Kraus CS, Limbrock J, Cohen M, Anton-Lamprecht I, Abeck D, Ring J. Möhrenschlager M, et al. Among authors: anton lamprecht i. Hautarzt. 2000 Apr;51(4):250-5. doi: 10.1007/s001050051113. Hautarzt. 2000. PMID: 10810660 German.

7

[Epidermolysis bullosa simplex: genotype-phenotype correlation in Danish patients].

Sørensen CB, Ladekjaer-Mikkelsen AS, Andresen BS, Brandrup F, Veien NK, Buus SK, Anton-Lamprecht I, Kruse T, Jensen PK, Eiberg H, Bolund L, Gregersen N. Sørensen CB, et al. Among authors: anton lamprecht i. Ugeskr Laeger. 2000 Mar 27;162(13):1873-6. Ugeskr Laeger. 2000. PMID: 10765693 Danish.

8

A premature stop codon mutation in the 2B helix termination peptide of keratin 5 in a German epidermolysis bullosa simplex Dowling-Meara case.

Müller FB, Anton-Lamprecht I, Küster W, Korge BP. Müller FB, et al. Among authors: anton lamprecht i. J Invest Dermatol. 1999 Jun;112(6):988-90. doi: 10.1046/j.1523-1747.1999.00615.x. J Invest Dermatol. 1999. PMID: 10383750 Free article.

9

A novel substitution in keratin 10 in epidermolytic hyperkeratosis.

Arin MJ, Longley MA, Anton-Lamprecht I, Kurze G, Huber M, Hohl D, Rothnagel JA, Roop DR. Arin MJ, et al. Among authors: anton lamprecht i. J Invest Dermatol. 1999 Apr;112(4):506-8. doi: 10.1046/j.1523-1747.1999.00557.x. J Invest Dermatol. 1999. PMID: 10201536 Free article.

10

Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.

Sørensen CB, Ladekjaer-Mikkelsen AS, Andresen BS, Brandrup F, Veien NK, Buus SK, Anton-Lamprecht I, Kruse TA, Jensen PK, Eiberg H, Bolund L, Gregersen N. Sørensen CB, et al. Among authors: anton lamprecht i. J Invest Dermatol. 1999 Feb;112(2):184-90. doi: 10.1046/j.1523-1747.1999.00495.x. J Invest Dermatol. 1999. PMID: 9989794 Free article.

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