459 related articles for article (PubMed ID: 16819399)
21. Functional associations of genetic variants involved in the clinical manifestation of erythropoietic protoporphyria in the Argentinean population.
Colombo FP; Rossetti MV; Méndez M; Martínez JE; Enríquez de Salamanca R; del C Batlle AM; Parera VE
J Eur Acad Dermatol Venereol; 2013 Jun; 27(6):754-62. PubMed ID: 22591014
[TBL] [Abstract][Full Text] [Related]
22. Biochemical and molecular diagnosis of erythropoietic protoporphyria in an Ashkenazi Jewish family.
Schneider-Yin X; Mamet R; Minder EI; Schoenfeld N
J Inherit Metab Dis; 2008 Dec; 31 Suppl 2():S363-7. PubMed ID: 18758989
[TBL] [Abstract][Full Text] [Related]
23. Genetic study in a Singaporean patient with erythropoietic protoporphyria.
Chuah SY; Tee SI; Pramono ZA; Theng CT
Photodermatol Photoimmunol Photomed; 2012 Oct; 28(5):269-71. PubMed ID: 22971195
[TBL] [Abstract][Full Text] [Related]
24. The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH.
Gouya L; Puy H; Robreau AM; Bourgeois M; Lamoril J; Da Silva V; Grandchamp B; Deybach JC
Nat Genet; 2002 Jan; 30(1):27-8. PubMed ID: 11753383
[TBL] [Abstract][Full Text] [Related]
25. Erythropoietic protoporphyria.
Lecha M; Puy H; Deybach JC
Orphanet J Rare Dis; 2009 Sep; 4():19. PubMed ID: 19744342
[TBL] [Abstract][Full Text] [Related]
26. Incomplete erythropoietic protoporphyria caused by a splice site modulator homozygous IVS3-48C polymorphism in the ferrochelatase gene.
Mizawa M; Makino T; Nakano H; Sawamura D; Shimizu T
Br J Dermatol; 2016 Jan; 174(1):172-5. PubMed ID: 26280465
[TBL] [Abstract][Full Text] [Related]
27. Molecular epidemiology of erythropoietic protoporphyria in the U.K.
Whatley SD; Mason NG; Holme SA; Anstey AV; Elder GH; Badminton MN
Br J Dermatol; 2010 Mar; 162(3):642-6. PubMed ID: 20105171
[TBL] [Abstract][Full Text] [Related]
28. Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria.
Balwani M; Naik H; Anderson KE; Bissell DM; Bloomer J; Bonkovsky HL; Phillips JD; Overbey JR; Wang B; Singal AK; Liu LU; Desnick RJ
JAMA Dermatol; 2017 Aug; 153(8):789-796. PubMed ID: 28614581
[TBL] [Abstract][Full Text] [Related]
29. Prevention of murine erythropoietic protoporphyria-associated skin photosensitivity and liver disease by dermal and hepatic ferrochelatase.
Pawliuk R; Tighe R; Wise RJ; Mathews-Roth MM; Leboulch P
J Invest Dermatol; 2005 Jan; 124(1):256-62. PubMed ID: 15654982
[TBL] [Abstract][Full Text] [Related]
30. Modeling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice.
Barman-Aksözen J; C Wiek P; Bansode VB; Koentgen F; Trüb J; Pelczar P; Cinelli P; Schneider-Yin X; Schümperli D; Minder EI
Dis Model Mech; 2017 Mar; 10(3):225-233. PubMed ID: 28093505
[TBL] [Abstract][Full Text] [Related]
31. Erythropoietic protoporphyria: identification of novel mutations in the ferrochelatase gene and comparison of biochemical markers versus molecular analysis as diagnostic strategies.
Frank J; Nelson J; Wang X; Yang L; Ahmad W; Lam H; Jugert FK; Kalka K; Poh-Fitzpatrick MB; Goerz G; Merk HF; Christiano AM
J Investig Med; 1999 Jul; 47(6):278-84. PubMed ID: 10431482
[TBL] [Abstract][Full Text] [Related]
32. Exonic deletions as a cause of erythropoietic protoporphyria.
Wood LH; Whatley SD; McKenna K; Badminton MN
Ann Clin Biochem; 2006 May; 43(Pt 3):229-32. PubMed ID: 16704762
[TBL] [Abstract][Full Text] [Related]
33. Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance.
Holme SA; Whatley SD; Roberts AG; Anstey AV; Elder GH; Ead RD; Stewart MF; Farr PM; Lewis HM; Davies N; White MI; Ackroyd RS; Badminton MN
J Invest Dermatol; 2009 Mar; 129(3):599-605. PubMed ID: 18787536
[TBL] [Abstract][Full Text] [Related]
34. Erythropoietic protoporphyria a clinical and molecular study from Lebanon: Ferrochelatase a potential tumor suppressor gene in colon cancer.
Kadara H; Nemer G; Safi R; Rebeiz N; Daou L; Delbani D; Btadini W; Abbas O; Tofaili M; Bitar F; Kibbi AG; Shimomura Y; Kurban M
Clin Genet; 2017 Nov; 92(5):495-502. PubMed ID: 28075030
[TBL] [Abstract][Full Text] [Related]
35. A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratoderma.
Minder EI; Schneider-Yin X; Mamet R; Horev L; Neuenschwander S; Baumer A; Austerlitz F; Puy H; Schoenfeld N
J Eur Acad Dermatol Venereol; 2010 Nov; 24(11):1349-53. PubMed ID: 20337824
[TBL] [Abstract][Full Text] [Related]
36. Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.
Weiss Y; Balwani M; Chen B; Yasuda M; Nazarenko I; Desnick RJ
Mol Genet Metab; 2019 Nov; 128(3):358-362. PubMed ID: 30454868
[TBL] [Abstract][Full Text] [Related]
37. Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.
Gouya L; Martin-Schmitt C; Robreau AM; Austerlitz F; Da Silva V; Brun P; Simonin S; Lyoumi S; Grandchamp B; Beaumont C; Puy H; Deybach JC
Am J Hum Genet; 2006 Jan; 78(1):2-14. PubMed ID: 16385445
[TBL] [Abstract][Full Text] [Related]
38. Novel null-allele mutations and genotype-phenotype correlation in Argentinean patients with erythropoietic protoporphyria.
Parera VE; Koole RH; Minderman G; Edixhoven A; Rossetti MV; Batlle A; de Rooij FW
Mol Med; 2009; 15(11-12):425-31. PubMed ID: 19693296
[TBL] [Abstract][Full Text] [Related]
39. Photosensitivity and acute liver injury in myeloproliferative disorder secondary to late-onset protoporphyria caused by deletion of a ferrochelatase gene in hematopoietic cells.
Goodwin RG; Kell WJ; Laidler P; Long CC; Whatley SD; McKinley M; Badminton MN; Burnett AK; Williams GT; Elder GH
Blood; 2006 Jan; 107(1):60-2. PubMed ID: 16150949
[TBL] [Abstract][Full Text] [Related]
40. A 10376 bp deletion of FECH gene responsible for erythropoietic protoporphyria.
Di Pierro E; Brancaleoni V; Besana V; Ausenda S; Drury S; Cappellini MD
Blood Cells Mol Dis; 2008; 40(2):233-6. PubMed ID: 17888693
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]