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List of works by Tommy Martinsson

423 RNA helicase A is essential for 1p36 gene KIF1Bβ tumor suppression in neuroblastomas

article

A Founder Mutation of the BRCA1-Gene in Western Sweden

scientific article published in January 1999

A cluster of genes located in 1p36 are down-regulated in neuroblastomas with poor prognosis, but not due to CpG island methylation

scientific article

A founder mutation of the BRCA1 gene in Western Sweden associated with a high incidence of breast and ovarian cancer

scientific article published on October 2001

A genome-wide search for genes predisposing to familial psoriasis by using a stratification approach

scientific article published on 01 December 1999

A high frequency of germline BRCA1/2 mutations in western Sweden detected with complementary screening techniques

scientific article published on 01 January 2005

A large deletion disrupts the exon 3 transcription activation domain of the BRCA2 gene in a breast/ovarian cancer family

scientific article published on 01 April 1998

A multilocus technique for risk evaluation of patients with neuroblastoma

scientific article published on February 2011

A mutation in POLE predisposing to a multi-tumour phenotype

scientific article

A new GTF2I-BRAF fusion mediating MAPK pathway activation in pilocytic astrocytoma

scientific article

A novel 1p36.2 located gene, APITD1, with tumour-suppressive properties and a putative p53-binding domain, shows low expression in neuroblastoma tumours.

scientific article published on September 2004

A population genetic study of psoriasis

scientific article published on 01 July 1994

A population genetic study of psoriasis

scientific article published on 01 January 1994

Absence of somatostatin receptor expression in vivo is correlated to di- or tetraploid 1p36-deleted neuroblastomas

scientific article published on 01 January 2001

Age at onset and different types of psoriasis.

scientific article published in November 1995

Age dependence of tumor genetics in unfavorable neuroblastoma: arrayCGH profiles of 34 consecutive cases, using a Swedish 25-year neuroblastoma cohort for validation

scientific article

Aggressive neuroblastomas have high p110alpha but low p110delta and p55alpha/p50alpha protein levels compared to low stage neuroblastomas.

scientific article published on 18 April 2013

Alternative lengthening of telomeres--an enhanced chromosomal instability in aggressive non-MYCN amplified and telomere elongated neuroblastomas.

scientific article published on 14 January 2011

Amplification and enhanced expression of the c-myc oncogene in mouse SEWA tumour cells

scientific article

Amplification and overexpression of the P-glycoprotein genes and differential amplification of three other genes in SEWA murine multidrug-resistant cells

scientific article

An improved technique for chromosome preparations from human lymphocytes

scientific article published on 01 January 1991

Analyses of apoptotic regulators CASP9 and DFFA at 1P36.2, reveal rare allele variants in human neuroblastoma tumours

scientific article

Analysis of ALK, MYCN, and the ALK ligand ALKAL2 (FAM150B/AUGα) in neuroblastoma patient samples with chromosome arm 2p rearrangements

scientific article published on 24 July 2019

Analysis of chromosome band 1p36 alterations by chromosomal in situ suppression hybridization with a microclone DNA bank

scientific article

Analysis of location and integrity of the human PITSLRE (p58(cdc2L1)) genes in neuroblastoma cell genomes

scientific article published on 01 June 1996

Analysis of neuroblastoma tumour progression; loss of PHOX2B on 4p13 and 17q gain are early events in neuroblastoma tumourigenesis

scientific article published on 01 March 2008

Analysis of three suggested psoriasis susceptibility loci in a large Swedish set of families: confirmation of linkage to chromosome 6p (HLA region), and to 17q, but not to 4q

scientific article published on 01 January 1999

Anaplastic Lymphoma Kinase (ALK) regulates initiation of transcription of MYCN in neuroblastoma cells

scientific article published on 30 January 2012

Aneuploidy in neuroblastoma tumors is not associated with inactivating point mutations in the STAG2 gene

scientific article

Appearance of the novel activating F1174S ALK mutation in neuroblastoma correlates with aggressive tumor progression and unresponsiveness to therapy

scientific article published on 8 November 2010

Autism associated with marker chromosome

scientific article published in May 1991

Autosomal dominant myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles

scientific article published on 01 August 1998

Autosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in the myosin heavy chain IIa gene

scientific article

COX/mPGES-1/PGE2 pathway depicts an inflammatory-dependent high-risk neuroblastoma subset

scientific article published on 15 June 2015

Cell culture and Drosophila model systems define three classes of anaplastic lymphoma kinase mutations in neuroblastoma.

scientific article published on 25 October 2012

Characterization of four melanoma cell lines with electron microscopy, immunocytochemistry, cytogenetics, flow cytometry, and southern analysis

scientific article published on September 1992

Characterization of multidrug resistance in SEWA mouse tumor cells: increased glutathione transferase activity and reversal of resistance with verapamil

scientific article published on 01 January 1987

Chromosome 1 deletions in human neuroblastomas: generation and fine mapping of microclones from the distal 1p region

scientific article published on September 1989

Clinical response of the novel activating ALK-I1171T mutation in neuroblastoma to the ALK inhibitor ceritinib

scientific article published on 01 August 2018

Collecting a set of psoriasis family material through a patient organisation; clinical characterisation and presence of additional disorders.

scientific article

Combined111In-pentetreotide scintigraphy and123I-mIBG scintigraphy in neuroblastoma provides prognostic information

scientific article published on 01 December 2000

Comparative genetic study of intratumoral heterogenous MYCN amplified neuroblastoma versus aggressive genetic profile neuroblastic tumors

scientific article published on 29 June 2015

Comprehensive SNP array study of frequently used neuroblastoma cell lines; copy neutral loss of heterozygosity is common in the cell lines but uncommon in primary tumors

scientific article published on 07 September 2011

Congenital variant Rett syndrome in a girl with terminal deletion of chromosome 3p

scientific article

Constitutional 11q14-q22 chromosome deletion syndrome in a child with neuroblastoma MYCN single copy.

scientific article published on 13 September 2013

Correction: A new GTF2I-BRAF fusion mediating MAPK pathway activation in pilocytic astrocytoma

scientific article published on 7 September 2017

Cytogenetic analysis of 477 psoriatics revealed an increased frequency of aberrations involving chromosome region 11q

scientific article published on 01 April 1999

DNA microarray analysis of chromosomal susceptibility regions to identify candidate genes for allergic disease: a pilot study

scientific article published in September 2004

Deletion of chromosome 1p loci and microsatellite instability in neuroblastomas analyzed with short-tandem repeat polymorphisms

scientific article published on 01 December 1995

Deletion of the MGMT gene in familial melanoma

scientific article published on 06 May 2014

Delimitation of a critical tumour suppressor region at distal 1p in neuroblastoma tumours

scientific article published on 01 October 1997

Denaturing high-performance liquid chromatography is a suitable method for PMM2 mutation screening in carbohydrate-deficient glycoprotein syndrome type IA patients

scientific article published on 01 January 2000

Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families

scientific article

Dilated cardiomyopathy and the dystrophin gene: an illustrated review

scientific article

Dominant hereditary inclusion-body myopathy gene (IBM3) maps to chromosome region 17p13.1.

scientific article

Duchenne muscular dystrophy and spinal muscular atrophy type I segregating in the same family

scientific article published on 01 February 1994

Emergence of new ALK mutations at relapse of neuroblastoma

scientific article

Epigenetic inactivation of the candidate 3p21.3 suppressor gene BLU in human cancers.

scientific article

Essential fatty acid deficiency in relation to genotype in patients with cystic fibrosis

scientific article published in November 2001

Estimation of copy number aberrations: Comparison of exome sequencing data with SNP microarrays identifies homozygous deletions of 19q13.2 and CIC in neuroblastoma

scientific article

Evidence that HLA-Cw6 determines early onset of psoriasis, obtained using sequence-specific primers (PCR-SSP)

scientific article published on 01 July 1997

Expression of trkB in human neuroblastoma in relation to MYCN expression and retinoic acid treatment

scientific article

Failure of short-term mannose therapy of patients with carbohydrate-deficient glycoprotein syndrome type 1A.

scientific article

Fine mapping of a tumour suppressor candidate gene region in 1p36.2-3, commonly deleted in neuroblastomas and germ cell tumours

article

Fine mapping of the gene for carbohydrate-deficient glycoprotein syndrome, type I (CDG1): linkage disequilibrium and founder effect in Scandinavian families

scientific article published on 01 February 1997

Fine mapping of the human preprocortistatin gene (CORT) to neuroblastoma consensus deletion region 1p36.3-->p36.2, but absence of mutations in primary tumors.

scientific article published in January 2000

Foxe3 haploinsufficiency in mice: a model for Peters' anomaly

scientific article

Frequency of four cystic fibrosis mutations in a Swedish population

scientific article published on 01 June 1993

Frequent detection of human cytomegalovirus in neuroblastoma: a novel therapeutic target?

scientific article published on 13 July 2013

Fructose 1,6-bisphosphatase deficiency: enzyme and mutation analysis performed on calcitriol-stimulated monocytes with a note on long-term prognosis

scientific article published on 12 February 2010

Gain of chromosome arm 17q is associated with unfavourable prognosis in neuroblastoma, but does not involve mutations in the somatostatin receptor 2(SSTR2) gene at 17q24.

scientific article published on December 1999

Genetic and epigenetic changes in the common 1p36 deletion in neuroblastoma tumours

scientific article

Genetic counselling in psoriasis: empirical data on psoriasis among first-degree relatives of 3095 psoriatic probands

scientific article

Genetic instability and intratumoral heterogeneity in neuroblastoma with MYCN amplification plus 11q deletion

scientific article

Genome-wide linkage analysis of Scandinavian affected sib-pairs supports presence of susceptibility loci for celiac disease on chromosomes 5 and 11

scientific article published on 01 December 2001

Genome-wide linkage scan for breast cancer susceptibility loci in Swedish hereditary non-BRCA1/2 families: suggestive linkage to 10q23.32-q25.3.

scientific article published on 01 March 2007

Genome-wide methylation profiling identifies novel methylated genes in neuroblastoma tumors

scientific article published on 19 January 2016

Genomic organization and chromosomal localization of the human CTP synthetase gene (CTPS).

scientific article

Germline mutation in the FGFR3 gene in a TWIST1-negative family with Saethre-Chotzen syndrome and breast cancer

article

Germline mutation screening of the Saethre-Chotzen-associated genes TWIST1 and FGFR3 in families with BRCA1/2-negative breast cancer.

scientific article

HLA and prognosis in multiple sclerosis

scientific article published in May 1994

Hereditary multiple and isolated sporadic exostoses in the same kindred: identification of the causative gene (EXT2) and detection of a new mutation, nt112delAT, that distinguishes the two phenotypes

scientific article published on 01 January 2004

Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin

scientific article

High incidence of DNA mutations and gene amplifications of theALKgene in advanced sporadic neuroblastoma tumours

article

High-resolution array copy number analyses for detection of deletion, gain, amplification and copy-neutral LOH in primary neuroblastoma tumors: four cases of homozygous deletions of the CDKN2A gene

scientific article

High-resolution copy number array in the molecular cytogenetic diagnostics of pediatric malignant hematological disorders

scientific article published on 16 February 2012

High-risk neuroblastoma tumors with 11q-deletion display a poor prognostic, chromosome instability phenotype with later onset

scientific article

Homozygous deletion of the neurofibromatosis-1 gene in the tumor of a patient with neuroblastoma

scientific article published on 01 June 1997

Identification of a psoriasis susceptibility candidate gene by linkage disequilibrium mapping with a localized single nucleotide polymorphism map.

scientific article

Identification of epigenetically regulated genes that predict patient outcome in neuroblastoma

scientific article

Imbalance of the mitochondrial pro- and anti-apoptotic mediators in neuroblastoma tumours with unfavourable biology

scientific article published on 01 March 2005

Increased recurrence risk in congenital disorders of glycosylation type Ia (CDG-Ia) due to a transmission ratio distortion

scientific article published in November 2004

Influence of segmental chromosome abnormalities on survival in children over the age of 12 months with unresectable localised peripheral neuroblastic tumours without MYCN amplification.

scientific article published on 4 November 2014

Intragenic anaplastic lymphoma kinase (ALK) rearrangements: translocations as a novel mechanism of ALK activation in neuroblastoma tumors.

scientific article published on 23 September 2014

Introduction of in vitro transcribed ENO1 mRNA into neuroblastoma cells induces cell death

scientific article

Inverse relation between nasal fluid Clara Cell Protein 16 levels and symptoms and signs of rhinitis in allergen-challenged patients with intermittent allergic rhinitis

scientific article published on 01 February 2007

Investigation of the role of SDHB inactivation in sporadic phaeochromocytoma and neuroblastoma.

scientific article published on November 2004

Isolation of selectively amplified DNA sequences from multidrug-resistant SEWA cells

scientific article

Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406

scientific article (publication date: November 1994)

Localization of a gene for autosomal dominant Larsen syndrome to chromosome region 3p21.1-14.1 in the proximity of, but distinct from, the COL7A1 locus

scientific article

Localization of the human tripeptidyl peptidase II gene (TPP2) to 13q32-q33 by nonradioactive in situ hybridization and somatic cell hybrids

scientific article

Localization of the multidrug resistance-associated 170 kDa P-glycoprotein gene to mouse chromosome 5 and to homogeneously staining regions in multidrug-resistant mouse cells by in situ hybridization

scientific article

Loss of heterozygosity of 3p markers in neuroblastoma tumours implicate a tumour-suppressor locus distal to the FHIT gene ⬇️

scientific article published on June 1, 1998

Low Frequency ALK Hotspots Mutations In Neuroblastoma Tumours Detected By Ultra-deep Sequencing: Implications For ALK Inhibitor Treatment

MECP2 mutation screening in Swedish classical Rett syndrome females

scientific article published on 01 June 2001

MEDULLOBLASTOMA

MEK inhibitor trametinib does not prevent the growth of anaplastic lymphoma kinase (ALK)-addicted neuroblastomas

scientific article published on 28 November 2017

MYCN amplicon junctions as tumor-specific targets for minimal residual disease detection in neuroblastoma.

scientific article published on 12 July 2011

MYCN-regulated miRNA-92 inhibits secretion of the tumor suppressor DICKKOPF-3 (DKK3) in neuroblastoma

scientific article published on 13 May 2011

Maternal origin of inv dup(15) chromosomes in infantile autism

scientific article published in December 1996

Meta-analysis of neuroblastomas reveals a skewed ALK mutation spectrum in tumors with MYCN amplification

scientific article published on 18 August 2010

Methotrexate resistance and double minutes in a cell line from the SEWA mouse ascites tumor

scientific article published on January 1982

Multiple mitochondrial DNA deletions in hereditary inclusion body myopathy

scientific article published on 01 July 2000

Mutations and sequence variation in the human myosin heavy chain IIa gene (MYH2)

scientific article (publication date: May 2005)

Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)

scientific article (publication date: November 2000)

Mutations in the N-terminal domain of DFF45 in a primary germ cell tumor and in neuroblastoma tumors

scientific article

Myosin heavy chain IIa gene mutation E706K is pathogenic and its expression increases with age

scientific article (publication date: 12 March 2002)

Neuroblastoma after childhood: prognostic relevance of segmental chromosome aberrations, ATRX protein status, and immune cell infiltration

scientific article

Neuroblastoma consensus deletion maps to 1p36.1-2.

scientific article

Neuroblastoma tumors with favorable and unfavorable outcomes: Significant differences in mRNA expression of genes mapped at 1p36.2.

scientific article published on 01 January 2007

No genetic linkage between multiple sclerosis and the interferon alpha/beta locus

scientific article published on 01 April 1996

Novel cytogenetic expression of gene amplification in actinomycin D-resistant somatic cell hybrids: transfer of resistance by centric chromatin bodies

scientific article

Novel germline mutations in Swedish von Hippel-Lindau disease patients

scientific article published on 01 September 1997

Novel mutations in the APC gene and clinical features in Swedish patients with polyposis coli

scientific article published on 01 November 1997

Nuclear accumulation of full-length and truncated adenomatous polyposis coli protein in tumor cells depends on proliferation

scientific article

Occurrence of both breast and ovarian cancer in a woman is a marker for the BRCA gene mutations: a population-based study from western Sweden

scientific article published on January 2007

PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families

scientific article (publication date: November 2000)

PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families

Patched 2, located in 1p32-34, is not mutated in high stage neuroblastoma tumors

scientific article published in May 2000

Patient-Derived Xenograft Models Reveal Intratumor Heterogeneity and Temporal Stability in Neuroblastoma

Periampullary adenomas and adenocarcinomas in familial adenomatous polyposis: cumulative risks and APC gene mutations

scientific article published on 01 November 2001

Pleiotropic drug resistance and gene amplification in a SEWA mouse tumor cell line. Complex relations revealed by drug uptake data, and lipid and protein analysis

scientific article

Pleiotropic drug resistance, protein overexpression, and cytogenetic signs of gene amplification in mouse tumor cells

scientific article published in July 1986

Progress in a genome scan for linkage in schizophrenia in a large Swedish kindred

scientific article published on 01 March 1994

Psoriasis susceptibility locus in chromosome region 3q21 identified in patients from southwest Sweden

scientific article published on 01 October 1999

Quality assessment of genetic markers used for therapy stratification.

scientific article published in June 2003

Quantitative global and gene-specific promoter methylation in relation to biological properties of neuroblastomas

scientific article

RASSF1A promoter region CpG island hypermethylation in phaeochromocytomas and neuroblastoma tumours

scientific article published in November 2001

RNA helicase A is a downstream mediator of KIF1Bβ tumor-suppressor function in neuroblastoma.

scientific article

Representational difference analysis and loss of heterozygosity studies detect 3p deletions in neuroblastoma

scientific article published on 01 October 1997

Resistance to actinomycin D and to vincristine induced in a SEWA mouse tumor cell line with concomitant appearance of double minutes and a low molecular weight protein

scientific article published in June 1984

Rho-associated kinase is a therapeutic target in neuroblastoma

scientific article published on 24 July 2017

S gene (Corneodesmosin) diversity and its relationship to psoriasis; high content of cSNP in the HLA-linked S gene

scientific article published on 01 June 2000

SLIT2 promoter methylation analysis in neuroblastoma, Wilms' tumour and renal cell carcinoma

scientific article published on January 2004

Scandinavian CDG-Ia patients: genotype/phenotype correlation and geographic origin of founder mutations

scientific article published on 01 May 2001

Screening for gene mutations in a 500 kb neuroblastoma tumor suppressor candidate region in chromosome 1p; mutation and stage-specific expression in UBE4B/UFD2.

scientific article

Sense-Antisense lncRNA Pair Encoded by Locus 6p22.3 Determines Neuroblastoma Susceptibility via the USP36-CHD7-SOX9 Regulatory Axis

scientific article published in March 2018

Significantly earlier age at onset for the HLA-Cw6-positive than for the Cw6-negative psoriatic sibling

scientific article published on 01 November 1997

Single-nuclei transcriptomes from human adrenal gland reveal distinct cellular identities of low and high-risk neuroblastoma tumors

scientific article published on 07 September 2021

Stage-dependent expression of PI3K/Akt‑pathway genes in neuroblastoma

scientific article published on 12 December 2012

Stronger association with HLA-Cw6 than with corneodesmosin (S-gene) polymorphisms in Swedish psoriasis patients

scientific article published on 01 November 2000

Structural and immunochemical identification of Le(a), Le(b), H type 1, and related glycolipids in small intestinal mucosa of a group O Le(a-b-) nonsecretor

scientific article published in February 1997

Successful DNA-based prenatal exclusion of juvenile neuronal ceroid lipofuscinosis

scientific article published on 01 July 1993

The 1p36 Tumor Suppressor KIF 1Bβ Is Required for Calcineurin Activation, Controlling Mitochondrial Fission and Apoptosis

scientific article published in January 2016

The ALK inhibitor PF-06463922 is effective as a single agent in neuroblastoma driven by expression of ALK and MYCN

scientific article published on 07 July 2016

The CTLA4/CD28 gene region on chromosome 2q33 confers susceptibility to celiac disease in a way possibly distinct from that of type 1 diabetes and other chronic inflammatory disorders

article

The Phox2 pathway is differentially expressed in neuroblastoma tumors, but no mutations were found in the candidate tumor suppressor gene PHOX2A.

scientific article

The RASSF gene family members RASSF5, RASSF6 and RASSF7 show frequent DNA methylation in neuroblastoma

scientific article

The genetic tumor background is an important determinant for heterogeneous MYCN-amplified neuroblastoma

scientific article published on 22 February 2016

The microenvironment of human neuroblastoma supports the activation of tumor-associated T lymphocytes

scientific article published on March 2013

The risk-associated long noncoding RNA NBAT-1 controls neuroblastoma progression by regulating cell proliferation and neuronal differentiation

scientific article published on 10 November 2014

The two human homologues of yeast UFD2 ubiquitination factor, UBE4A and UBE4B, are located in common neuroblastoma deletion regions and are subject to mutations in tumours

scientific article published on 4 January 2006

The western Swedish BRCA1 founder mutation 3171ins5; a 3.7 cM conserved haplotype of today is a reminiscence of a 1500-year-old mutation

scientific article

Transfer of methotrexate resistance by somatic cell hybridization

scientific article published on January 1983

Tumor development, growth characteristics and spectrum of genetic aberrations in the TH-MYCN mouse model of neuroblastoma

scientific article

Tumorigenicity of SEWA murine cells correlates with degree of c-myc amplification

scientific article published on October 1988

Variable expression and absence of mutations in p73 in primary neuroblastoma tumors argues against a role in neuroblastoma development

scientific article published on 01 June 1999

Verification of genes differentially expressed in neuroblastoma tumours: a study of potential tumour suppressor genes

scientific article published on 17 August 2009

[von Hippel-Lindau hereditary tumor syndrome. Mutational analysis may improve prognosis]

scientific article published on 01 March 1995

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