Search Results - "Floderus, Y"

Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria.

Authors: Wiman, Å. Floderus, Y. Harper, P.

Source: Journal of Human Genetics. 2003, Vol. 48 Issue 2, p70. 7p.

Two novel mutations and coexistence of the 991C.T and the 1339C.T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyria.

Authors: Wiman, Å. Floderus, Y. Harper, P.

Source: Journal of Human Genetics. 2002, Vol. 47 Issue 8, p407. 6p.

The W198X and R173W mutations in the porphobilinogen deaminase gene in acute intermittent porphyria have higher clinical penetrance than R167W. A population-based study.

Authors: Andersson, C. Floderus, Y. Wikberg, A. et al.

Source: Scandinavian Journal of Clinical & Laboratory Investigation. 11/27/2000, Vol. 60 Issue 7, p643-648. 6p. 5 Charts, 2 Graphs.

Erythropoietic protoporphyria in Sweden: demographic, clinical, biochemical and genetic characteristics.

Authors: Wahlin, S. Floderus, Y. Stål, P. et al.

Source: Journal of Internal Medicine. Mar2011, Vol. 269 Issue 3, p278-288. 11p. 2 Charts, 4 Graphs.

Enrichment of HFE mutations in Swedish patients with familial and sporadic form of porphyria cutanea tarda.

Authors: Harper, P. Floderus, Y. Holmström, P. et al.

Source: Journal of Internal Medicine. Jun2004, Vol. 255 Issue 6, p684-687. 4p.

Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene.

Authors: Floderus, Y Shoolingin-Jordan, PM Harper, P

Source: Clinical Genetics. Oct2002, Vol. 62 Issue 4, p288-297. 10p.

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Nine novel mutations in the protoporphyrinogen oxidase gene in Swedish families with variegate porphyria.

Authors: Wiman, Å Harper, P Floderus, Y

Source: Clinical Genetics. Aug2003, Vol. 64 Issue 2, p122-130. 9p.

Identification of an AluY-mediated deletion of exon 5 in the CPOX gene by MLPA analysis in patients with hereditary coproporphyria.

Authors: Barbaro, M Kotajärvi, M Harper, P et al.

Source: Clinical Genetics. Mar2012, Vol. 81 Issue 3, p249-256. 8p. 2 Diagrams, 3 Charts, 1 Graph.

Porphyrin precursors and risk of primary liver cancer in acute intermittent porphyria: A case-control study of 188 patients.

Authors: Lissing M Wester A Vassiliou D et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2023 Nov; Vol. 46 (6), pp. 1186-1194. Date of Electronic Publication: 2023 Sep 08.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Risk for incident comorbidities, nonhepatic cancer and mortality in acute hepatic porphyria: A matched cohort study in 1244 individuals.

Authors: Lissing M Vassiliou D Floderus Y et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2023 Mar; Vol. 46 (2), pp. 286-299. Date of Electronic Publication: 2022 Dec 30.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Risk of primary liver cancer in acute hepatic porphyria patients: A matched cohort study of 1244 individuals.

Authors: Lissing M Vassiliou D Floderus Y et al.

Source: Journal of internal medicine [J Intern Med] 2022 Jun; Vol. 291 (6), pp. 824-836. Date of Electronic Publication: 2022 Mar 02.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 8904841 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2796 (Electronic) Linking ISSN: 09546820 NLM ISO Abbreviation: J Intern Med Subsets: MEDLINE

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.

Authors: van Loggerenberg W Sowlati-Hashjin S Weile J et al.

Source: American journal of human genetics [Am J Hum Genet] 2023 Oct 05; Vol. 110 (10), pp. 1769-1786. Date of Electronic Publication: 2023 Sep 19.

Publication Type: Journal Article

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria.

Authors: Barbaro M Kotajärvi M Harper P et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2013 Jan 16; Vol. 8, pp. 13. Date of Electronic Publication: 2013 Jan 16.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.

Authors: Chen B Whatley S Badminton M et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Nov; Vol. 21 (11), pp. 2605-2613. Date of Electronic Publication: 2019 May 10.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

The difficult clinical diagnosis of erythropoietic protoporphyria.

Authors: Wahlin S Floderus Y Ros AM et al.

Source: Physiological research [Physiol Res] 2006; Vol. 55 Suppl 2, pp. S155-157.

Publication Type: Journal Article

Journal Info: Publisher: Published for the Institute of Physiology of the Czechoslovak Academy of Sciences by Academia, Pub. House of the Academy Country of Publication: Czech Republic NLM ID: 9112413 Publication Model: Print Cited Medium: Print ISSN: 0862-8408 (Print) Linking ISSN: 08628408 NLM ISO Abbreviation: Physiol Res Subsets: MEDLINE

Porphyria in Sweden.

Authors: Thunell S Floderus Y Henrichson A et al.

Source: Physiological research [Physiol Res] 2006; Vol. 55 Suppl 2, pp. S109-118.

Publication Type: Journal Article; Review

Journal Info: Publisher: Published for the Institute of Physiology of the Czechoslovak Academy of Sciences by Academia, Pub. House of the Academy Country of Publication: Czech Republic NLM ID: 9112413 Publication Model: Print Cited Medium: Print ISSN: 0862-8408 (Print) Linking ISSN: 08628408 NLM ISO Abbreviation: Physiol Res Subsets: MEDLINE

The prevalence of hepatitis C in patients with porphyria cutanea tarda in Stockholm, Sweden.

Authors: Linde Y Harper P Floderus Y et al.

Source: Acta dermato-venereologica [Acta Derm Venereol] 2005; Vol. 85 (2), pp. 164-6.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: MJS Publishing Country of Publication: Sweden NLM ID: 0370310 Publication Model: Print Cited Medium: Print ISSN: 0001-5555 (Print) Linking ISSN: 00015555 NLM ISO Abbreviation: Acta Derm Venereol Subsets: MEDLINE

Porphyrin status in aluminum foundry workers exposed to hexachlorobenzene and octachlorostyrene.

Authors: Seldén AI Floderus Y Bodin LS et al.

Source: Archives of environmental health [Arch Environ Health] 1999 Jul-Aug; Vol. 54 (4), pp. 248-53.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Heldref Publications Country of Publication: United States NLM ID: 0212627 Publication Model: Print Cited Medium: Print ISSN: 0003-9896 (Print) Linking ISSN: 00039896 NLM ISO Abbreviation: Arch Environ Health Subsets: MEDLINE

A recurrent mutation in variegate porphyria patients from Chile and Sweden: Evidence for a common genetic background?

Authors: van Serooskerken AM Ernst M Bladergroen RS et al.

Source: Journal of dermatological science [J Dermatol Sci] 2011 Jan; Vol. 61 (1), pp. 75-7. Date of Electronic Publication: 2010 Jul 30.

Publication Type: Letter; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 9011485 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-569X (Electronic) Linking ISSN: 09231811 NLM ISO Abbreviation: J Dermatol Sci Subsets: MEDLINE