List of works - Kristina Lagerstedt Robinson

A case with bladder exstrophy and unbalanced X chromosome rearrangement

scientific article published on 25 June 2013

A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1

scientific article published on 18 November 2020

A new corneal disease with recurrent erosive episodes and autosomal-dominant inheritance

A new susceptibility locus for hypospadias on chromosome 7q32.2-q36.1

A novel duplication in the HOXA13 gene in a family with atypical hand-foot-genital syndrome.

scientific article

Absence of motilin gene mutations in infantile hypertrophic pyloric stenosis

scientific article

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 gene

article

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

scientific article

Chimerism resulting from parthenogenetic activation and dispermic fertilization

Concurrent microdeletion and duplication of 22q11.2.

scientific article published on 28 April 2008

DNA repair genes are selectively mutated in diffuse large B cell lymphomas

scientific article published on 19 August 2013

Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.

scientific article published on 7 November 2013

Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status

scientific article published on 4 August 2004

Double-strand breaks may initiate the inversion mutation causing the Hunter syndrome.

scientific article published in April 1997

Doublede novomutations ofELANE(ELA2) in a patient with severe congenital neutropenia requiring high-dose G-CSF therapy

Dystrophia Helsinglandica: a new type of hereditary corneal recurrent erosions with late subepithelial fibrosis

FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias

article

GSTM1 gene expression correlates to leiomyoma volume regression in response to mifepristone treatment

scientific article

Genetic analyses supporting colorectal, gastric, and prostate cancer syndromes

scientific article published on 07 August 2019

Genetic anticipation in Swedish Lynch syndrome families.

scientific article published on 31 October 2017

Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation.

scientific article published on 29 December 2017

Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia

scholarly article by Göran Carlsson et al published 25 May 2012 in British Journal of Haematology

Leiden Open Variation Database of the MUTYH gene

scientific article

Loss of mismatch repair protein immunostaining in colorectal adenomas from patients with hereditary nonpolyposis colorectal cancer

Microsatellite instability analysis and/or immunostaining for the diagnosis of hereditary nonpolyposis colorectal cancer?

article

Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis

scientific article published on 28 February 2012

Mutational study of the MAMLD1-gene in hypospadias

article

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update

scientific article

No association between a promoter NOS1 polymorphism (rs41279104) and Infantile Hypertrophic Pyloric Stenosis

article

Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability

scientific article

Partial tetrasomy 14 associated with multiple malformations.

scientific article published on 23 April 2013

PatientMatcher: A customizable Python‐based open‐source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network

scientific article published on 22 February 2022

Polymorphisms of estrogen receptor beta gene are associated with hypospadias.

scientific article

SLC1A3 variant associated with hemiplegic migraine and acetazolamide-responsive MRS changes

scientific article published on 07 July 2020

Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients

scientific article published on 24 February 2010

The Apparent Genetic Anticipation in PMS2-Associated Lynch Syndrome Families Is Explained by Birth-cohort Effect

scientific article published on 01 March 2019

The BRCA1 exon 13 duplication in the Swedish population

The added value of PMS2 immunostaining in the diagnosis of hereditary nonpolyposis colorectal cancer

The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations

scientific article

The valine allele of the V89L polymorphism in the 5-alpha-reductase gene confers a reduced risk for hypospadias

scientific article published on 20 September 2005

Two Distinct Deletions in theIDSGene and the GeneW: A Novel Type of Mutation Associated with the Hunter Syndrome ⬇️

scientific article published on July 15, 1997

List of works by Kristina Lagerstedt Robinson

A case with bladder exstrophy and unbalanced X chromosome rearrangement

A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1

A new corneal disease with recurrent erosive episodes and autosomal-dominant inheritance

A new susceptibility locus for hypospadias on chromosome 7q32.2-q36.1

A novel duplication in the HOXA13 gene in a family with atypical hand-foot-genital syndrome.

Absence of motilin gene mutations in infantile hypertrophic pyloric stenosis

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 gene

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

Chimerism resulting from parthenogenetic activation and dispermic fertilization

Concurrent microdeletion and duplication of 22q11.2.

DNA repair genes are selectively mutated in diffuse large B cell lymphomas

Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.

Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status

Double-strand breaks may initiate the inversion mutation causing the Hunter syndrome.

Doublede novomutations ofELANE(ELA2) in a patient with severe congenital neutropenia requiring high-dose G-CSF therapy

Dystrophia Helsinglandica: a new type of hereditary corneal recurrent erosions with late subepithelial fibrosis

FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias

GSTM1 gene expression correlates to leiomyoma volume regression in response to mifepristone treatment

Genetic analyses supporting colorectal, gastric, and prostate cancer syndromes

Genetic anticipation in Swedish Lynch syndrome families.

Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation.

Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia

Leiden Open Variation Database of the MUTYH gene

Loss of mismatch repair protein immunostaining in colorectal adenomas from patients with hereditary nonpolyposis colorectal cancer

Microsatellite instability analysis and/or immunostaining for the diagnosis of hereditary nonpolyposis colorectal cancer?

Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis

Mutational study of the MAMLD1-gene in hypospadias

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update

No association between a promoter NOS1 polymorphism (rs41279104) and Infantile Hypertrophic Pyloric Stenosis

Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability

Partial tetrasomy 14 associated with multiple malformations.

PatientMatcher: A customizable Python‐based open‐source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network

Polymorphisms of estrogen receptor beta gene are associated with hypospadias.

SLC1A3 variant associated with hemiplegic migraine and acetazolamide-responsive MRS changes

Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients

The Apparent Genetic Anticipation in PMS2-Associated Lynch Syndrome Families Is Explained by Birth-cohort Effect

The BRCA1 exon 13 duplication in the Swedish population

The added value of PMS2 immunostaining in the diagnosis of hereditary nonpolyposis colorectal cancer

The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations

The valine allele of the V89L polymorphism in the 5-alpha-reductase gene confers a reduced risk for hypospadias

Two Distinct Deletions in theIDSGene and the GeneW: A Novel Type of Mutation Associated with the Hunter Syndrome ⬇️