close
       

Publikationsliste Dr. sc. nat. ETH Fabrizio Dutly

  • Zimmermann-Baer U, Capalo R, Dutly F, Saller E, Troxler H, Kohler M, Frischknecht H. Neonatal Cyanosis Due to a New (G)γ-Globin Variant Causing Low Oxygen Affinity: Hb F-Sarajevo [(G)γ102(G4)Asn→Thr, AAC>ACC]. Hemoglobin 2012; 36:109-113.
  • Saller E, Moradkhani K, Dutly F, Vinatier I, Préhu C, Frischknecht H, Goossens M. Comparison of Two Known Chromosomal Rearrangements in the δβ-Globin Complex with Identical DNA Breakpoints But Causing Different Hb A(2) Levels. Hemoglobin 2012; 36:177-182.
  • Verweij SP, Catsburg A, Ouburg S, Lombardi A, Heijmans R, Dutly F, Frei R, Morré SA, Goldenberger D. Lymphogranuloma venereum variant L2b-specific polymerase chain reaction: insertion used to close an epidemiological gap. Clin Microbiol Infect 2011; 17: 1727–1730.
  • Frischknecht H, Troxler H, Dutly F, Walker L, Hohenadel BA, Eng B, Waye JS. Characterization of Three Novel delta Chain Hemoglobin Variants and Two delta-Thalassemia Alleles. Hemoglobin 2010; 34:374-382.
  • Waye JS, Eng B, Dutly F, Frischknecht H. alpha-Thalassemia Caused by Two Novel Splice Mutations of the alpha2-Globin Gene: IVS-I-1 (G>A and G>T). Hemoglobin 2009; 33:519-522.
  • Frischknecht H, Dutly F, Walker L, Nakamura-Garrett LM, Eng B, Waye JS. Three new beta-thalassemia mutations with varying degrees of severity. Hemoglobin 2009; 33:220-225.
  • Frischknecht H, Troxler H, Greiner J, Hengartner H, Dutly F. Compound heterozygosity for Hb S [beta6(A3)GluVal, GAG-->GTG] and a new thalassemic mutation [beta132(H10)Lys-->term, AAA-->TAA] detected in a family from West Africa. Hemoglobin 2008; 32:309-313.
  • Frischknecht H, Dutly F. A 65 bp duplication/insertion in exon II of the ß globin gene causing ß°-thalassemia. Hematologica 2007; 92:423-424.
  • Goldenberger D, Dutly F, Gebhardt M. Analysis of 721 Chlamydia trachomatis-positive urogenital specimens from men and women using lymphogranuloma venereum L2-specific real-time PCR assay. Euro Surveill. 2006; 11: E061018.4.
  • Frischknecht H, Troxler H, Forster C, Dutly F. A new electrophoretically silent ß-globin variant in a Portuguese family: Hb Viseu [ß57(E1)Asn->Thr]. Hemoglobin 2006; 30:23-27.
  • Frischknecht H, Dutly F. Two new delta-globin mutations: Hb A2-Ninive [delta133(H11)Val->Ala] and a delta(+)-Thalassemia mutation [-31 (A -> G)] in the TATA box of the delta-globin gene. Hemoglobin 2005; 29:151-154.
  • Dutly F, Fehr J, Goede JS, Morf M, Troxler H, Frischknecht H. A new highly unstable chain variant causing alpha-thalassemia: Hb Zurich Albisrieden [59(E8)Gly -> Arg (alpha2)]. Hemoglobin 2004; 28:347-351.
  • Krafft A, Dutly F, Breymann C, Frischknecht H. Philippinische Familie mit kombinierter Alpha- und Beta-Thalassämie. Schweiz Med Forum 2004;4:960–962.
  • Dutly F, Grubenmann M, Goldenberger D. Eye infection in a young patient caused by Corynebacterium bovis: microbiological methods and 16S rRNA sequencing. Clin Microbiol Newsl 2004; 26:5-7.
  • Maibach RC, Dutly F, Altwegg M. Detection of Tropheryma whipplei DNA in feces by PCR using a target capture method. J Clin Microbiol 2002; 40(7): 2466-2471.
  • Dutly F, Altwegg M. Whipple‘s disease and "Tropheryma whippelii". Clin Microbiol Rev 2001; 14(3):561-583.
  • Brecevic L, Basaran S, Dutly F, Röthlisberger B, Schinzel A. Tandem triplication of chromosome 13q14 with inverted interstitial segment in a 4 year old girl. J Med Genet 2000; 37:964-967.
  • Dutly F, Hinrikson HP, Seidel T, Morgenegg S, Altwegg M, Bauerfeind P. Tropheryma whippelii DNA in saliva of patients without Whipple's disease. Infection 2000; 28:219-222.
  • Hinrikson, HP, Dutly F, Altwegg M. Analysis of the actinobacterial insertion in domain III of the 23S rRNA gene of uncultured variants of the bacterium associated with Whipple's disease using broad-range and "Tropheryma whippelii"-specific PCR. Int J Syst Evol Microbiol 2000; 50:1007-1011.
  • Hardegger D, Nadal D, Bossart W, Altwegg M, Dutly F. Rapid detection of Mycoplasma pneumoniae in clinical samples by real-time PCR. J Microbiol Methods 2000; 41:45-51.
  • Morgenegg S, Dutly F, Altwegg M. Cloning and sequencing of a part of the heat shock protein 60 (groEL) gene of "Tropheryma whippelii". J Clin Microbiol 2000; 38(6):2248-2253.
  • Kotzot D, Martinez MJ, Bagci G, Basaran S, Baumer A, Binkert F, Brecevic L, Castellan C, Chrzanowska K, Dutly F, Gutkowska A, Karauzum SB, Krajewska-Walasek M, Luleci G, Miny P, Riegel M, Schuffenhauer S, Seidel H, Schinzel A. Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications. J Med Genet 2000; 37:281-286.
  • Hinrikson HP, Dutly F, Altwegg M. Evaluation of a specific nested PCR targeting domain III of the 23S rRNA gene of "Tropheryma whippelii" and proposal of a classification system for its molecular variants. J Clin Microbiol 2000; 38:595-599.
  • Dutly F, Altwegg M. Maladie de Whipple et Tropheryma whippelii: nuveaux diagnostic et caracteristiques epidemiologiques. Med Hyg 1999; 57:1920-1924.
  • Hinrikson HP, Dutly F, Nair S, Altwegg M. Detection of three different types of "Tropheryma whippelii" directly from clinical specimens by sequencing, single-strand conformation polymorphism (SSCP) analysis and type-specific PCR of their 16S-23S ribosomal intergenic spacer region. Int J Syst Bacteriol 1999; 49:1701-1706.
  • Gubler JG, Kuster M, Dutly F, Bannwart F, Krause M, Vogelin HP, Garzoli G, Altwegg M. Whipple endocarditis without overt gastrointestinal disease: report of four cases. Ann Intern Med 1999; 131:112-116.
  • Ehrbar HU, Bauerfeind P, Dutly F, Koelz HR, Altwegg M. PCR-positive tests for Tropheryma whippelii in patients without Whipple's disease. Lancet 1999; 353:2214.
  • Brändle M, Ammann P, Spinas GA, Dutly F, Galeazzi RL, Schmid C, Altwegg M. Relapsing Whipple's disease presenting with hypopituitarism. Clin Endocrinol 1999; 50:399-403.
  • Hinrikson HP, Dutly F, Altwegg M. Homogeneity of 16S-23S ribosomal intergenic spacer regions of Tropheryma whippelii in Swiss patients with Whipple's disease. Clin Microbiol 1999; 37:152-156.
  • Dutly F, Hinrikson HP, and Altwegg M. Morbus Whipple und Tropheryma whippelii - Bedeutung der molekularen Diagnostik [Review]. Immun Infekt 1998; 2:11-15.
  • Dutly F, Balmer D, Baumer A, Binkert F, Schinzel A. Isochromosomes 12p and 9p: parental origin and possible mechanisms of formation. Eur J Hum Genet 1998; 6:140-144.
  • Baumer A, Dutly F, Balmer D, Riegel M, Tukel T, Krajewska-Walasek M, Schinzel AA. High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions. Hum Mol Genet 1998; 7:887-894.
  • Dutly F, Baumer A, Kayserili H, Yuksel-Apak M, Zerova T, Hebisch G, Schinzel A. Seven cases of Wiedmann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11. Am J Med Genet 1998; 79:347-353.
  • Schinzel A, Gundelfinger R, Dutly F, Baumer A, Binkert F. A 5-year-old girl with interstitial deletion of 3p14: clinical, psychologic, cytogenetic, and molecular studies. Am J Med Genet 1998; 77:302-305.
  • Robinson WP, Dutly F, Nicholls RD, Bernasconi F, Penaherrera M, Michaelis RC, Abeliovich D, Schinzel AA. The mechanisms involved in formation of deletions and duplications of 15q11-q13. Med Genet 1998; 35:130-136.
  • Fokstuen S, Arbenz U, Artan S, Dutly F, Bauersfeld U, Brecevic L, Fasnacht M, Rothlisberger B, Schinzel A. 22q11.2 deletions in a series of patients with non-selective congenital heart defects: incidence, type of defects and parental origin. Clin Genet 1998; 53:63-69.
  • Schinzel A, Brecevic L, Dutly F, Baumer A, Binkert F, Largo RH. Multiple congenital anomalies including the Rieger eye malformation in a boy with interstitial deletion of (4) (q25-->q27) secondary to a balanced insertion in his normal father: evidence for haplotype insufficiency causing the Rieger malformation. J Med Genet 1997; 34:1012-1014.
  • Schinzel A, Kotzot D, Brecevic L, Robinson WP, Dutly F, Dauwerse H, Binkert F, Baumer A, Ausserer B. Trisomy first, translocation second, uniparental disomy and partial trisomy third: a new mechanism for complex chromosomal aneuploidy. Eur J Hum Genet 1997; 5:308-314.
  • Schoedon G, Goldenberger D, Forrer R, Gunz A, Dutly F, Hochli M, Altwegg M, Schaffner A. Deactivation of macrophages with interleukin-4 is the key to the isolation of Tropheryma whippelii. J Infect Dis 1997; 176:672-677.
  • Schinzel A, Braegger CP, Brecevic L, Dutly F, Binkert F. Interstitial deletion, del(4)(q12q21.1), owing to de novo unbalanced translocation in a 2 year old girl: further evidence that the piebald trait maps to proximal 4q12. J Med Genet 1997; 34:692-695.
  • Dutly F, Schinzel A. Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome. Hum Mol Genet 1996; 5:1893-1898.
  • Bernasconi F, Karaguzel A, Celep F, Keser I, Luleci G, Dutly F, Schinzel AA. Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q). Am J Hum Genet 1996; 59:1114-1118.
  • Robinson WP, Bernasconi F, Dutly F, Lefort G, Romain DR, Binkert F, Schinzel AA. Molecular studies of translocations and trisomy involving chromosome 13. Am J Med Genet 1996; 61:158-163.
  • Ottiger HP, Gerfin-Moser A, Del Principe F, Dutly F, Streit P. Molecular cloning and differential expression patterns of avian glutamate receptor mRNAs. Neurochem 1995; 64:2413-2426.
  • McDermott JM, Brändle U, Dutly F, Haemmerli UA, Keller S, Müller KE, Wolf MS. Genetic variation in powdery mildew of Barley: development of RAPD, SCAR, and VNTR markers. Phytopathology 1994; 84:1316-1321.
  • Gaul G, Dutly F, Frei K, Foguet M, Lubbert H. APP RNA splicing is not affected by differentiation of neurons and glia in culture. FEBS Lett 1992; 307:329-332.
  • Dutly F, Schwab ME. Neurons and astrocytes influence the development of purified O-2A progenitor cells. Glia 1991; 4:559-571.
  • Dutly F, Schwab ME. How is oligodendrocyte differentiation and myelin formation regulated? Schweiz Arch Neurol Psychiatr 1989; 140:19-21.
  • Nigg EA, Hilz H, Eppenberger HM, Dutly F. Rapid and reversible translocation of the catalytic subunit of cAMP-dependent protein kinase type II from the Golgi complex to the nucleus. EMBO J 1985; 4:2801-2806.

Nach oben