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Quoted phrase not found in phrase index: "Rothmund-Thomson syndrome type 1"
Page 1
Immunohistochemical, ultrastructural, and molecular features of Kindler syndrome distinguish it from dystrophic epidermolysis bullosa.
Shimizu H, Sato M, Ban M, Kitajima Y, Ishizaki S, Harada T, Bruckner-Tuderman L, Fine JD, Burgeson R, Kon A, McGrath JA, Christiano AM, Uitto J, Nishikawa T. Shimizu H, et al. Arch Dermatol. 1997 Sep;133(9):1111-7. Arch Dermatol. 1997. PMID: 9301588 Review.
OBSERVATIONS: Two unrelated patients with Kindler syndrome were studied. ...CONCLUSIONS: These results suggest that the bullous component of Kindler syndrome is distinct from dystrophic epidermolysis bullosa caused by mutations in the type VII collagen …
OBSERVATIONS: Two unrelated patients with Kindler syndrome were studied. ...CONCLUSIONS: These results suggest that the bullou …
Systematic search for neutropenia should be part of the first screening in patients with poikiloderma.
Piard J, Holder-Espinasse M, Aral B, Gigot N, Rio M, Tardieu M, Puzenat E, Goldenberg A, Toutain A, Franques J, MacDermot K, Bessis D, Boute O, Callier P, Gueneau L, Huet F, Vabres P, Catteau B, Faivre L, Thauvin-Robinet C. Piard J, et al. Eur J Med Genet. 2012 Jan;55(1):8-11. doi: 10.1016/j.ejmg.2011.07.004. Epub 2011 Aug 18. Eur J Med Genet. 2012. PMID: 21872685
Poikiloderma occurs in a number of hereditary syndromes, the best known of which is Rothmund-Thomson syndrome (RTS). Differential diagnoses include Dyskeratosis Congenita (DC) with high genetic heterogeneity and Clericuzio-type Poikiloderma with Neutro …
Poikiloderma occurs in a number of hereditary syndromes, the best known of which is Rothmund-Thomson syndrome (RTS). Di …
Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene.
Volpi L, Roversi G, Colombo EA, Leijsten N, Concolino D, Calabria A, Mencarelli MA, Fimiani M, Macciardi F, Pfundt R, Schoenmakers EF, Larizza L. Volpi L, et al. Am J Hum Genet. 2010 Jan;86(1):72-6. doi: 10.1016/j.ajhg.2009.11.014. Epub 2009 Dec 10. Am J Hum Genet. 2010. PMID: 20004881 Free PMC article.
Autozygosity mapping was performed on a five-generation inbred Italian family with three siblings affected with Clericuzio-type poikiloderma with neutropenia (PN [MIM %604173]), a rare autosomal-recessive genodermatosis characterised by poikiloderma, pachyonychia, and chro …
Autozygosity mapping was performed on a five-generation inbred Italian family with three siblings affected with Clericuzio-type poiki …
Excretion of glucose-containing oligosaccharides in urines of orthopedic patients.
Tokunaga M, Wakamatsu E, Yosizawa Z. Tokunaga M, et al. Tohoku J Exp Med. 1979 May;128(1):71-9. doi: 10.1620/tjem.128.71. Tohoku J Exp Med. 1979. PMID: 287216 Free article.
Urinary neutral oligosaccharides of various connective tissue diseases were studied by gel-filtration through Sephadex G--10 after treatments with cetylpyridinium chloride (CPC), Dowex 50 (H+ form) and Dowex 1 (Cl- form), in succession. Increased excretion of urinary gluco …
Urinary neutral oligosaccharides of various connective tissue diseases were studied by gel-filtration through Sephadex G--10 after treatment …
Abnormal kinetics of induction of UV-stimulated recombination in human DNA repair disorders.
Abrahams PJ, Houweling A, Schouten R, van der Eb AJ, Terleth C. Abrahams PJ, et al. DNA Repair (Amst). 2003 Nov 21;2(11):1211-25. doi: 10.1016/s1568-7864(03)00141-1. DNA Repair (Amst). 2003. PMID: 14599743
Here we describe the occurrence of UV-stimulated recombination called enhanced recombination (EREC), measured with the use of Herpes Simplex Viruses type 1 mutants. In normal diploid human cells, EREC is induced by UV-C, mitomycin C and ENU, but not by X-ray or MMS. …
Here we describe the occurrence of UV-stimulated recombination called enhanced recombination (EREC), measured with the use of Herpes Simplex …
Cytokeratin profiles in dyskeratosis congenita: an immunocytochemical investigation of lingual hyperkeratosis.
Ogden GR, Chisholm DM, Leigh IM, Lane EB. Ogden GR, et al. J Oral Pathol Med. 1992 Sep;21(8):353-7. doi: 10.1111/j.1600-0714.1992.tb01364.x. J Oral Pathol Med. 1992. PMID: 1383502
In dyskeratosis congenita, the hyperkeratotic lesions affecting the mucous membranes have a propensity to undergo malignant change. Unfortunately there is presently no reliable method for predicting such an outcome. Oral mucosal biopsies were obtained from a case of dysker …
In dyskeratosis congenita, the hyperkeratotic lesions affecting the mucous membranes have a propensity to undergo malignant change. Unfortun …