about
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutationsLeiden Open Variation Database of the MUTYH gene.Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.GSTM1 gene expression correlates to leiomyoma volume regression in response to mifepristone treatment.New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.A novel duplication in the HOXA13 gene in a family with atypical hand-foot-genital syndrome.Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis.DNA repair genes are selectively mutated in diffuse large B cell lymphomasAbsence of motilin gene mutations in infantile hypertrophic pyloric stenosis.Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status.Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.The valine allele of the V89L polymorphism in the 5-alpha-reductase gene confers a reduced risk for hypospadias.Genetic anticipation in Swedish Lynch syndrome families.Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation.Double-strand breaks may initiate the inversion mutation causing the Hunter syndrome.A case with bladder exstrophy and unbalanced X chromosome rearrangement.Concurrent microdeletion and duplication of 22q11.2.Partial tetrasomy 14 associated with multiple malformations.Polymorphisms of estrogen receptor beta gene are associated with hypospadias.Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemiaChimerism resulting from parthenogenetic activation and dispermic fertilizationMutational study of the MAMLD1-gene in hypospadiasNo association between a promoter NOS1 polymorphism (rs41279104) and Infantile Hypertrophic Pyloric StenosisDoublede novomutations ofELANE(ELA2) in a patient with severe congenital neutropenia requiring high-dose G-CSF therapyDystrophia Helsinglandica: a new type of hereditary corneal recurrent erosions with late subepithelial fibrosisA new corneal disease with recurrent erosive episodes and autosomal-dominant inheritanceA new susceptibility locus for hypospadias on chromosome 7q32.2-q36.1FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadiasThe added value of PMS2 immunostaining in the diagnosis of hereditary nonpolyposis colorectal cancerLoss of mismatch repair protein immunostaining in colorectal adenomas from patients with hereditary nonpolyposis colorectal cancerThe BRCA1 exon 13 duplication in the Swedish populationMicrosatellite instability analysis and/or immunostaining for the diagnosis of hereditary nonpolyposis colorectal cancer?Analysis of a 43.6 kb deletion in a patient with Hunter syndrome (MPSII): identification of a fusion transcript including sequences from the gene W and the IDS geneThe Apparent Genetic Anticipation in PMS2-Associated Lynch Syndrome Families Is Explained by Birth-cohort EffectGenetic analyses supporting colorectal, gastric, and prostate cancer syndromes
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
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name
Kristina Lagerstedt Robinson
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Kristina Lagerstedt Robinson
@en
Kristina Lagerstedt Robinson
@es
Kristina Lagerstedt Robinson
@nl
Kristina Lagerstedt Robinson
@sl
type
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Kristina Lagerstedt Robinson
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Kristina Lagerstedt Robinson
@en
Kristina Lagerstedt Robinson
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Kristina Lagerstedt Robinson
@nl
Kristina Lagerstedt Robinson
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prefLabel
Kristina Lagerstedt Robinson
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Kristina Lagerstedt Robinson
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Kristina Lagerstedt Robinson
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Kristina Lagerstedt Robinson
@nl
Kristina Lagerstedt Robinson
@sl
P106
P31
P496
0000-0001-9848-0468