about
A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease lociMutations in the pre-replication complex cause Meier-Gorlin syndromeInactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndromeGenome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathwaysA unique set of centrosome proteins requires pericentrin for spindle-pole localization and spindle orientationGenetic variants in GPR126 are associated with adolescent idiopathic scoliosisAssociation of TALS developmental disorder with defect in minor splicing component U4atac snRNAMeta-analysis of shared genetic architecture across ten pediatric autoimmune diseasesGenome-wide association analysis of juvenile idiopathic arthritis identifies a new susceptibility locus at chromosomal region 3q13A family-based likelihood ratio test for general pedigree structures that allows for genotyping error and missing data.Extreme growth failure is a common presentation of ligase IV deficiency.Common polymorphisms in human lysyl oxidase genes are not associated with the adolescent idiopathic scoliosis phenotype.TDT-HET: a new transmission disequilibrium test that incorporates locus heterogeneity into the analysis of family-based association data.ptk7 mutant zebrafish models of congenital and idiopathic scoliosis implicate dysregulated Wnt signalling in disease.The susceptibility loci juvenile idiopathic arthritis shares with other autoimmune diseases extend to PTPN2, COG6, and ANGPT1Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis.Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes.Neurofibromin deficiency-associated transcriptional dysregulation suggests a novel therapy for tibial pseudoarthrosis in NF1.A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in femalesHierarchy of risk of childhood-onset rheumatoid arthritis conferred by HLA-DRB1 alleles encoding the shared epitope.CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis.Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous DysplasiaMeier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosisBlood leukocyte microarrays to diagnose systemic onset juvenile idiopathic arthritis and follow the response to IL-1 blockade.Genetic sharing and heritability of paediatric age of onset autoimmune diseases.Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly.A YAC contig of approximately 3 Mb from human chromosome 5q31-->q33.Mutations responsible for Larsen syndrome cluster in the FLNB protein.Susceptibility to childhood-onset rheumatoid arthritis: investigation of a weighted genetic risk score that integrates cumulative effects of variants at five genetic loci.Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutationUnderstanding genetic factors in idiopathic scoliosis, a complex disease of childhood.Autoinflammatory genes and susceptibility to psoriatic juvenile idiopathic arthritis.Whole-exome sequencing: discovering genetic causes of orthopaedic disorders.The infevers autoinflammatory mutation online registry: update with new genes and functions.Infevers: an evolving mutation database for auto-inflammatory syndromes.The association of PTPN22 rs2476601 with juvenile idiopathic arthritis is specific to females.Epistasis amongst PTPN2 and genes of the vitamin D pathway contributes to risk of juvenile idiopathic arthritis.Evaluation of GPR50, hMel-1B, and ROR-alpha melatonin-related receptors and the etiology of adolescent idiopathic scoliosis.Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome.Identification of a homozygous PSTPIP1 mutation in a patient with a PAPA-like syndrome responding to canakinumab treatment.
P50
Q21145042-5B17F41E-4FCC-4DE1-BE42-65B2E7787186Q24629357-41E85965-3B32-4DDA-BBB8-9CBB11D7F6C0Q24653357-82AFC9CF-039A-4DCC-9DFA-2DAFA8438803Q24653432-125B528D-B0EB-4458-B2FA-48027B96CAA0Q28116262-04EDAA8F-C298-4AE5-A71F-6E9514B8AAA5Q28290491-EA99F157-C0D9-4118-8B2B-C547BEE81FE6Q28308281-5A4A4895-957F-40F3-8F8B-C2B5F27C2993Q28394008-1F463AB3-A5C2-4600-B559-2B0C656F3543Q28943486-21C95FB1-C7BA-4F87-85C3-59F9C730C4C7Q31151246-6813B6DB-C796-40FF-9DCA-1BC8E796F4DBQ33410904-427AC791-49E2-4C8C-9725-980FF7C9F6E8Q33955932-F3535E48-DA2B-4FFF-9E50-02262C59D69FQ34134550-C4190553-147F-4EB2-8130-1F51BE32C7B0Q34138284-45B749D2-D34F-4F65-93E0-192B874E8E30Q34268514-D76D2478-F322-41E1-A0A6-3E7468032BA5Q34269865-96968BE4-B7C6-44E7-BAAB-B1744BEA57B5Q34627021-87A02E2C-48E5-4EEE-A5E1-7E33D7ACEC67Q34715844-96C9E3B0-4FC7-4763-AE50-FFFFFEAD14EFQ35193960-2C6BC96F-D8EC-4C33-8BBB-623E6CB86B9EQ35748732-C973F5F1-50F5-4EA2-A06F-B1B9CC56D524Q35752651-937BD8F2-493C-49A6-89D5-CB1B1ED898EEQ35861489-ADD049C8-5F84-4ADE-8214-0D7188AFA422Q35969087-2009AF1C-09E2-435C-86A0-15D4010EE53AQ36229664-B88440DC-BBF5-4EE2-935B-6D18DF02C80AQ36249776-210F1E0E-8812-476C-ACAB-F680F5C5A465Q36525854-0DAE86D0-10DF-434A-BC6F-20D13B5E8891Q36750635-58EEB775-6610-4959-8716-41931947E85FQ36930071-F3CA0478-4D60-4C18-9E84-FDE791BE2384Q36932698-FB74F55D-5218-4D7F-B7F4-0108E4A8EDCCQ37156177-AA53B500-C796-405E-A399-1699A63771ADQ37172140-A656EB39-79F8-4E81-9F05-0211DE0640D4Q37208079-7490D9A2-4130-4D80-B5E9-F207C9387AB8Q38168753-C8929B29-B251-4F06-BC50-C677A4EF2E70Q40421899-53427322-36EE-48ED-96E9-02D7508D8DC2Q40528366-FC470337-3E4D-4204-8FF5-A9E957D5641FQ41467604-DB65409A-4A38-4A2E-8454-4C21FFED751EQ41742958-BC9E2F06-7F32-4023-B91D-11C787153036Q41879556-15D833D4-4134-49EA-802E-5EA97EBBA801Q41935686-64A8AF63-DEB2-4B7C-BE1C-F9C8A525B8B5Q42274196-3808A9C8-13C8-4402-9D95-40B286337F7D
P50
description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
researcher
@en-gb
հետազոտող
@hy
name
Carol Wise
@ast
Carol Wise
@br
Carol Wise
@ca
Carol Wise
@cs
Carol Wise
@cy
Carol Wise
@da
Carol Wise
@de
Carol Wise
@de-at
Carol Wise
@de-ch
Carol Wise
@en
type
label
Carol Wise
@ast
Carol Wise
@br
Carol Wise
@ca
Carol Wise
@cs
Carol Wise
@cy
Carol Wise
@da
Carol Wise
@de
Carol Wise
@de-at
Carol Wise
@de-ch
Carol Wise
@en
prefLabel
Carol Wise
@ast
Carol Wise
@br
Carol Wise
@ca
Carol Wise
@cs
Carol Wise
@cy
Carol Wise
@da
Carol Wise
@de
Carol Wise
@de-at
Carol Wise
@de-ch
Carol Wise
@en
P106
P1153
7102100021
P21
P31
P496
0000-0002-6790-2194