Publications by Anne Blomhoff
15 publications found
Original articles
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
Genet Med, 23 (6), 1028-1040
DOI 10.1038/s41436-021-01114-z, PubMed 33658631
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants
Genet Med, 21 (4), 850-860
DOI 10.1038/s41436-018-0259-2, PubMed 30245513
Homozygous KIDINS220 loss-of-function variants in fetuses with cerebral ventriculomegaly and limb contractures
Hum Mol Genet, 26 (19), 3792-3796
DOI 10.1093/hmg/ddx263, PubMed 28934391
Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2
Neuromuscul Disord, 26 (9), 570-5
DOI 10.1016/j.nmd.2016.06.457, PubMed 27450922
Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B
Am J Med Genet A, 167A (3), 657-63
DOI 10.1002/ajmg.a.36944, PubMed 25691420
Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability
Orphanet J Rare Dis, 8, 3
DOI 10.1186/1750-1172-8-3, PubMed 23294540
Reproducible association with type 1 diabetes in the extended class I region of the major histocompatibility complex
Genes Immun, 10 (4), 323-33
DOI 10.1038/gene.2009.13, PubMed 19295542
Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease
Eur J Hum Genet, 16 (8), 977-82
DOI 10.1038/ejhg.2008.33, PubMed 18301444
Linkage disequilibrium and haplotype blocks in the MHC vary in an HLA haplotype specific manner assessed mainly by DRB1*03 and DRB1*04 haplotypes
Genes Immun, 7 (2), 130-40
DOI 10.1038/sj.gene.6364272, PubMed 16395395
A single-nucleotide polymorphism in the gene encoding lymphoid protein tyrosine phosphatase (PTPN22) confers susceptibility to generalised vitiligo
Genes Immun, 6 (7), 584-7
DOI 10.1038/sj.gene.6364243, PubMed 16015369
CTLA4 polymorphisms are associated with vitiligo, in patients with concomitant autoimmune diseases
Pigment Cell Res, 18 (1), 55-8
DOI 10.1111/j.1600-0749.2004.00196.x, PubMed 15649153
Polymorphisms in the cytotoxic T lymphocyte antigen-4 gene region confer susceptibility to Addison's disease
J Clin Endocrinol Metab, 89 (7), 3474-6
DOI 10.1210/jc.2003-031854, PubMed 15240634
Other articles
[Correction: More accurate fetal diagnostics]
Tidsskr Nor Laegeforen, 141 (16)
DOI 10.4045/tidsskr.21.0728, PubMed 34758600
[More accurate fetal diagnostics]
Tidsskr Nor Laegeforen, 141 (2021-14)
DOI 10.4045/tidsskr.21.0424, PubMed 34641655
Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants
Genet Med, 22 (11), 1920
DOI 10.1038/s41436-020-00944-7, PubMed 32814847