A
Anne Blomhoff
Researcher at Oslo University Hospital
Publications - 11
Citations - 607
Anne Blomhoff is an academic researcher from Oslo University Hospital. The author has contributed to research in topics: Haplotype & Genotype. The author has an hindex of 10, co-authored 11 publications receiving 532 citations. Previous affiliations of Anne Blomhoff include University of Oslo.
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Journal ArticleDOI
A single-nucleotide polymorphism in the gene encoding lymphoid protein tyrosine phosphatase (PTPN22) confers susceptibility to generalised vitiligo.
I Cantón,Samia Akhtar,Nikos G. Gavalas,David J. Gawkrodger,Anne Blomhoff,Philip F. Watson,Anthony P. Weetman,E.H. Kemp +7 more
TL;DR: The results indicate that the LYP missense R620W polymorphism may have an influence on the development of generalised vitiligo and provide further evidence for autoimmunity as an aetiological factor with respect to this disease.
Journal ArticleDOI
Polymorphisms in the cytotoxic T lymphocyte antigen-4 gene region confer susceptibility to Addison's disease.
Anne Blomhoff,Benedicte A. Lie,Anne Grethe Myhre,E. Helen Kemp,Anthony P. Weetman,Hanne E. Akselsen,Eystein S. Huseby,Dag E. Undlien +7 more
TL;DR: This finding suggests that polymorphisms in CTLA4 confer general risk to develop autoimmunity and identifies a potential therapeutic target in the prevention of autoimmune endocrine disorders.
Journal ArticleDOI
Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease.
Beate Skinningsrud,Eystein S. Husebye,Eystein S. Husebye,Kristina Gervin,Kristian Løvås,Kristian Løvås,Anne Blomhoff,Anette S. B. Wolff,E. Helen Kemp,Thore Egeland,Dag E. Undlien +10 more
TL;DR: It is concluded that the 1858T-allele is a PTPN22 genetic susceptibility factor for autoimmune AD, and other rare variants in PTPn22 do occur, and may also be involved in the pathogenesis.
Journal ArticleDOI
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants
Joanna Kennedy,David Goudie,Edward Blair,Edward Blair,Kate Chandler,Shelagh Joss,Victoria McKay,Andrew Green,Andrew Green,Ruth Armstrong,Melissa Lees,Benjamin Kamien,Bruce Hopper,Tiong Yang Tan,Patrick Yap,Zornitza Stark,Nobuhiko Okamoto,Noriko Miyake,Naomichi Matsumoto,Ellen Macnamara,Jennifer L. Murphy,Elizabeth M. McCormick,Hakon Hakonarson,Marni J. Falk,Dong Li,Patrick R. Blackburn,Eric W. Klee,Dusica Babovic-Vuksanovic,Susan Schelley,Louanne Hudgins,Sarina G. Kant,Bertrand Isidor,Benjamin Cogné,Kimberley Bradbury,Mark Williams,Chirag Patel,Helen Heussler,Celia Duff-Farrier,Phillis Lakeman,Ingrid Scurr,Usha Kini,Usha Kini,Mariet W. Elting,Margot R.F. Reijnders,Janneke H M Schuurs-Hoeijmakers,Mohamed Wafik,Mohamed Wafik,Anne Blomhoff,Claudia A. L. Ruivenkamp,Esther A. R. Nibbeling,Alexander J. M. Dingemans,Emilie D. Douine,Stanley F. Nelson,Valerie A. Arboleda,Ruth Newbury-Ecob +54 more
TL;DR: Genotype– phenotype correlations show that late-truncating pathogenic variants (exons 16–17) are significantly more prevalent in KAT6A syndrome and the genotypic and phenotypic spectrum is expanded to include missense and splicing mutations.
Journal ArticleDOI
CTLA4 polymorphisms are associated with vitiligo, in patients with concomitant autoimmune diseases.
Anne Blomhoff,E. Helen Kemp,David J. Gawkrodger,Anthony P. Weetman,Eystein S. Husebye,Hanne E. Akselsen,Benedicte A. Lie,Dag E. Undlien +7 more
TL;DR: The results indicate that the polymorphisms in the CTLA4 gene region confer susceptibility to vitiligo when occurring together with other autoimmune diseases, but not in patients with isolated vitILigo, raising the possibility that there are two distinct forms of vitiliga where only a subgroup of patients may have a disease caused by the autoimmune destruction of melanocytes.