Blomhoff A - Search Results

1

Linkage disequilibrium and haplotype blocks in the MHC vary in an HLA haplotype specific manner assessed mainly by DRB1*03 and DRB1*04 haplotypes.

Blomhoff A, Olsson M, Johansson S, Akselsen HE, Pociot F, Nerup J, Kockum I, Cambon-Thomsen A, Thorsby E, Undlien DE, Lie BA. Blomhoff A, et al. Genes Immun. 2006 Mar;7(2):130-40. doi: 10.1038/sj.gene.6364272. Genes Immun. 2006. PMID: 16395395

2

Reproducible association with type 1 diabetes in the extended class I region of the major histocompatibility complex.

Viken MK, Blomhoff A, Olsson M, Akselsen HE, Pociot F, Nerup J, Kockum I, Cambon-Thomsen A, Thorsby E, Undlien DE, Lie BA. Viken MK, et al. Among authors: blomhoff a. Genes Immun. 2009 Jun;10(4):323-33. doi: 10.1038/gene.2009.13. Epub 2009 Mar 19. Genes Immun. 2009. PMID: 19295542

3

Polymorphisms in the cytotoxic T lymphocyte antigen-4 gene region confer susceptibility to Addison's disease.

Blomhoff A, Lie BA, Myhre AG, Kemp EH, Weetman AP, Akselsen HE, Huseby ES, Undlien DE. Blomhoff A, et al. J Clin Endocrinol Metab. 2004 Jul;89(7):3474-6. doi: 10.1210/jc.2003-031854. J Clin Endocrinol Metab. 2004. PMID: 15240634

4

CTLA4 polymorphisms are associated with vitiligo, in patients with concomitant autoimmune diseases.

Blomhoff A, Kemp EH, Gawkrodger DJ, Weetman AP, Husebye ES, Akselsen HE, Lie BA, Undlien DE. Blomhoff A, et al. Pigment Cell Res. 2005 Feb;18(1):55-8. doi: 10.1111/j.1600-0749.2004.00196.x. Pigment Cell Res. 2005. PMID: 15649153

5

Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease.

Skinningsrud B, Husebye ES, Gervin K, Løvås K, Blomhoff A, Wolff AB, Kemp EH, Egeland T, Undlien DE. Skinningsrud B, et al. Among authors: blomhoff a. Eur J Hum Genet. 2008 Aug;16(8):977-82. doi: 10.1038/ejhg.2008.33. Epub 2008 Feb 27. Eur J Hum Genet. 2008. PMID: 18301444

6

A single-nucleotide polymorphism in the gene encoding lymphoid protein tyrosine phosphatase (PTPN22) confers susceptibility to generalised vitiligo.

Cantón I, Akhtar S, Gavalas NG, Gawkrodger DJ, Blomhoff A, Watson PF, Weetman AP, Kemp EH. Cantón I, et al. Among authors: blomhoff a. Genes Immun. 2005 Oct;6(7):584-7. doi: 10.1038/sj.gene.6364243. Genes Immun. 2005. PMID: 16015369

7

Homozygous KIDINS220 loss-of-function variants in fetuses with cerebral ventriculomegaly and limb contractures.

Mero IL, Mørk HH, Sheng Y, Blomhoff A, Opheim GL, Erichsen A, Vigeland MD, Selmer KK. Mero IL, et al. Among authors: blomhoff a. Hum Mol Genet. 2017 Oct 1;26(19):3792-3796. doi: 10.1093/hmg/ddx263. Hum Mol Genet. 2017. PMID: 28934391

8

Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability.

Barøy T, Misceo D, Strømme P, Stray-Pedersen A, Holmgren A, Rødningen OK, Blomhoff A, Helle JR, Stormyr A, Tvedt B, Fannemel M, Frengen E. Barøy T, et al. Among authors: blomhoff a. Orphanet J Rare Dis. 2013 Jan 7;8:3. doi: 10.1186/1750-1172-8-3. Orphanet J Rare Dis. 2013. PMID: 23294540 Free PMC article.

9

Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B.

Pedurupillay CR, Barøy T, Holmgren A, Blomhoff A, Vigeland MD, Sheng Y, Frengen E, Strømme P, Misceo D. Pedurupillay CR, et al. Among authors: blomhoff a. Am J Med Genet A. 2015 Mar;167A(3):657-63. doi: 10.1002/ajmg.a.36944. Am J Med Genet A. 2015. PMID: 25691420

10

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.

Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy JL, McCormick E, Hakonarson H, Falk MJ, Li D, Blackburn P, Klee E, Babovic-Vuksanovic D, Schelley S, Hudgins L, Kant S, Isidor B, Cogne B, Bradbury K, Williams M, Patel C, Heussler H, Duff-Farrier C, Lakeman P, Scurr I, Kini U, Elting M, Reijnders M, Schuurs-Hoeijmakers J, Wafik M, Blomhoff A, Ruivenkamp CAL, Nibbeling E, Dingemans AJM, Douine ED, Nelson SF; DDD Study,; Hempel M, Bierhals T, Lessel D, Johannsen J, Arboleda VA, Newbury-Ecob R. Kennedy J, et al. Among authors: blomhoff a. Genet Med. 2019 Apr;21(4):850-860. doi: 10.1038/s41436-018-0259-2. Epub 2018 Sep 24. Genet Med. 2019. PMID: 30245513 Free PMC article.

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