Division of Clinical Genetics
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- 2018
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Mark
Gastrointestinal microbiota contributes to the development of murine transfusion-related acute lung injury
(
- Contribution to journal › Article
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Mark
Whole-exome sequencing exploration of acquired uniparental disomies in B-cell precursor acute lymphoblastic leukemia
(
- Contribution to journal › Article
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Mark
A field guide for cancer diagnostics using cell-free DNA : From principles to practice and clinical applications
(
- Contribution to journal › Scientific review
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Mark
Utvidgad anlagsbärartestning kan bredda fosterdiagnostiken - Recessiva sjukdomsanlag kan kartläggas hos friska personer inför planerad graviditet
(
- Contribution to journal › Debate/Note/Editorial
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Mark
PREPL deficiency : Delineation of the phenotype and development of a functional blood assay
(
- Contribution to journal › Article
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Mark
Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility
(
- Contribution to journal › Article
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Mark
Identification and characterization of candidate therapeutic targets in acute myeloid leukemia
2018)(
- Thesis › Doctoral thesis (compilation)
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Mark
Generation of an induced pluripotent stem cell line (CSC-41) from a Parkinson's disease patient carrying a p.G2019S mutation in the LRRK2 gene
(
- Contribution to journal › Article
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Mark
Generation of an induced pluripotent stem cell line (CSC-44) from a Parkinson's disease patient carrying a compound heterozygous mutation (c.823C > T and EX6 del) in the PARK2 gene
(
- Contribution to journal › Article
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Mark
Novel subgroups of adult-onset diabetes and their association with outcomes : A data-driven cluster analysis of six variables
(
- Contribution to journal › Article
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Mark
Isolated myelosarcoma is characterized by recurrent NFE2 mutations and concurrent preleukemic clones in the bone marrow
(
- Contribution to journal › Letter
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Mark
BRCAsearch : written pre-test information and BRCA1/2 germline mutation testing in unselected patients with newly diagnosed breast cancer
(
- Contribution to journal › Article
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Mark
Accuracy of self-reported family history of cancer, mutation status and tumor characteristics in patients with early onset breast cancer
(
- Contribution to journal › Article
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Mark
Germline mutations in BRCA1 and BRCA2 incidentally revealed in a biobank research study : experiences from re-contacting mutation carriers and relatives
(
- Contribution to journal › Article
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Mark
The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant : Breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium
(
- Contribution to journal › Article
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Mark
Generation of a human induced pluripotent stem cell line (CSC-40) from a Parkinson's disease patient with a PINK1 p.Q456X mutation
(
- Contribution to journal › Article
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Mark
Inflammatory leiomyosarcoma is a distinct tumor characterized by near-haploidization, few somatic mutations, and a primitive myogenic gene expression signature
(
- Contribution to journal › Article
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Mark
Use of the BOADICEA Web Application in clinical practice : appraisals by clinicians from various countries
(
- Contribution to journal › Article
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Mark
Transcriptional landscape of B cell precursor acute lymphoblastic leukemia based on an international study of 1,223 cases
2018) In Proceedings of the National Academy of Sciences of the United States of America 115(50). p.11711-11720(
- Contribution to journal › Article
- 2017
-
Mark
From Mendel to Medical Genetics
(
- Contribution to journal › Scientific review
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Mark
Functional screen of MSI2 interactors identifies an essential role for SYNCRIP in myeloid leukemia stem cells
(
- Contribution to journal › Article
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Mark
Increased proportion of mature NK cells is associated with successful imatinib discontinuation in chronic myeloid leukemia
(
- Contribution to journal › Article
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Mark
Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers
(
- Contribution to journal › Article
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Mark
Neuroblastoma patient-derived xenograft cells cultured in stem-cell promoting medium retain tumorigenic and metastatic capacities but differentiate in serum
(
- Contribution to journal › Article
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Mark
Molecular Interrogation and Functional Studies of Acute Leukemia
2017)(
- Thesis › Doctoral thesis (compilation)
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Mark
Agonistic targeting of TLR1/TLR2 induces p38 MAPK-dependent apoptosis and NFκB-dependent differentiation of AML cells
(
- Contribution to journal › Article
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Mark
Genetic anticipation in Swedish Lynch syndrome families
(
- Contribution to journal › Article
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Mark
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer
(
- Contribution to journal › Article
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Mark
Somatic Genetic Variation in Children: from Mosaicism to Cancer
2017)(
- Thesis › Doctoral thesis (compilation)
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Mark
Transgenic expression of human cytokines in immunodeficient mice does not facilitate myeloid expansion of BCR-ABL1 transduced human cord blood cells
(
- Contribution to journal › Article
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Mark
Soft tissue angiofibroma : Clinicopathologic, immunohistochemical and molecular analysis of 14 cases
(
- Contribution to journal › Article
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Mark
Primary cells in BCR/FGFR1-positive 8p11 myeloproliferative syndrome are sensitive to dovitinib, ponatinib, and dasatinib
(
- Contribution to journal › Article
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Mark
Corticotroph Pituitary Carcinoma in a Patient With Lynch Syndrome (LS) and Pituitary Tumors in a Nationwide LS Cohort
(
- Contribution to journal › Article
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Mark
In-depth genetic analysis of sclerosing epithelioid fibrosarcoma reveals recurrent genomic alterations and potential treatment targets
(
- Contribution to journal › Article
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Mark
Frequent miRNA-convergent fusion gene events in breast cancer
(
- Contribution to journal › Article
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Mark
New oncogenic subtypes in pediatric B-cell precursor acute lymphoblastic leukemia
(
- Contribution to journal › Scientific review
-
Mark
FNA Cytology of Soft Tissue and Bone Tumors
(
- Book/Report › Book
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Mark
Pathogenetic Mechanisms in Soft Tissue Tumors
2017)(
- Thesis › Doctoral thesis (compilation)
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Mark
Distinct global binding patterns of the Wilms' tumor gene 1 (WT1) -KTS and +KTS isoforms in leukemic cells
(
- Contribution to journal › Article
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Mark
Loss of the tumor suppressor gene AIP mediates the browning of human brown fat tumors
(
- Contribution to journal › Article
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Mark
Solide Kindertumoren : Ein Streifzug durch das Raritätenkabinett
(
- Contribution to journal › Article
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Mark
Scattered genomic amplification in dedifferentiated liposarcoma
(
- Contribution to journal › Article
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Mark
Respiratory chain complex III deficiency due to mutated BCS1L : A novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model
(
- Contribution to journal › Article
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Mark
Nollutsläpp i basindustrin - förutsättningar för en ny industripolitik
2017) In IMES/EESS report(
- Book/Report › Report
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Mark
Evolution of antigenic diversity in the tick-transmitted bacterium Borrelia afzelii : a role for host specialization?
(
- Contribution to journal › Article
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Mark
Genomic complexity and targeted genes in anaplastic thyroid cancer cell lines
(
- Contribution to journal › Article
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Mark
Expanding the genotype–phenotype spectrum in hereditary colorectal cancer by gene panel testing
(
- Contribution to journal › Article
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Mark
Incidence and prognostic significance of isolated trisomies in adult acute myeloid leukemia : A population-based study from the Swedish AML registry
(
- Contribution to journal › Article
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Mark
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
(
- Contribution to journal › Article
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Mark
Mosaicism in health and disease — clones picking up speed
(
- Contribution to journal › Article
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Mark
Near-haploid and low hypodiploid acute lymphoblastic leukemia - two distinct subtypes but consistently poor prognosis
(
- Contribution to journal › Article
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Mark
Efficacy versus effectiveness of clinical genetic testing criteria for BRCA1 and BRCA2 hereditary mutations in incident breast cancer
(
- Contribution to journal › Article
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Mark
Cancer - An Insurgency of Clones
(
- Contribution to journal › Article
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Mark
Pediatric T-cell acute lymphoblastic leukemia
(
- Contribution to journal › Scientific review
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Mark
Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS and neurological symptoms
(
- Contribution to journal › Article
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Mark
Frequent low-level mutations of Protein Kinase D2 in angiolipoma
(
- Contribution to journal › Article
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Mark
Genetic and regulatory mechanism of susceptibility to high-hyperdiploid acute lymphoblastic leukaemia at 10p21.2
(
- Contribution to journal › Article
- 2016
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Mark
The clinical value of genetic analyses of bone and soft tissue tumors
(
- Thesis › Doctoral thesis (compilation)
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Mark
BCOR internal tandem duplication and YWHAE-NUTM2B/E fusion are mutually exclusive events in clear cell sarcoma of the kidney.
(
- Contribution to journal › Article
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Mark
An update of a classical textbook.
(
- Contribution to journal › Review (Book/Film/Exhibition/etc.)
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Mark
Methylation and expression analyses of Pallister-Killian syndrome reveal partial dosage compensation of tetrasomy 12p and hypomethylation of gene-poor regions on 12p.
(
- Contribution to journal › Article
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Mark
Familial aggregation of stroke amongst young patients in Lund Stroke Register.
(
- Contribution to journal › Article
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Mark
Genetic heterogeneity in rhabdomyosarcoma revealed by SNP array analysis.
(
- Contribution to journal › Article
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Mark
Cancer in first-degree relatives of women with early-onset breast cancer: a comparison of self-reported and cancer registry data
(
- Contribution to journal › Published meeting abstract
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Mark
High hyperdiploid childhood acute lymphoblastic leukemia : Chromosomal gains as the main driver event
(
- Contribution to journal › Article
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Mark
No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer
(
- Contribution to journal › Article
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Mark
Targeted sequencing of BRCA1 and BRCA2 across a large unselected breast cancer cohort suggests that one-third of mutations are somatic
(
- Contribution to journal › Article
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Mark
Global binding pattern of the Wilms' tumor gene 1 (WT1) +17AA -KTS isoform in leukemic cells
2016) American Association for Cancer Research (AACR) 107th Annual Meeting 2016 In Cancer Research 76(14 Suppl.).(
- Contribution to journal › Published meeting abstract
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Mark
Gain of 1q as a prognostic biomarker in Wilms Tumors (WTs) treated with preoperative chemotherapy in the International Society of Paediatric Oncology (SIOP) WT 2001 trial : A SIOP renal tumours biology consortium study
(
- Contribution to journal › Article
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Mark
Genomic profiling and directed ex vivo drug analysis of an unclassifiable myelodysplastic/myeloproliferative neoplasm progressing into acute myeloid leukemia
(
- Contribution to journal › Article
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Mark
Clonal conversion of B lymphoid leukemia reveals cross-lineage transfer of malignant states
(
- Contribution to journal › Article
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Mark
A New Method for Endoscopic Sampling of Submucosal Tissue in the Gastrointestinal Tract : A Comparison of the Biopsy Forceps and a New Drill Instrument
(
- Contribution to journal › Article
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Mark
Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer
(
- Contribution to journal › Article
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Mark
IL1RAP antibodies block IL-1-induced expansion of candidate CML stem cells and mediate cell killing in xenograft models
(
- Contribution to journal › Article
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Mark
Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus
(
- Contribution to journal › Article
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Mark
Rare novel variants in the ZIC3 gene cause X-linked heterotaxy
(
- Contribution to journal › Article
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Mark
Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations
(
- Contribution to journal › Article
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Mark
The genomic landscape of core-binding factor acute myeloid leukemias
(
- Contribution to journal › Letter
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Mark
Aberrant epigenetic regulation in clear cell sarcoma of the kidney featuring distinct DNA hypermethylation and EZH2 overexpression.
(
- Contribution to journal › Article
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Mark
Comprehensive genetic analysis of a pediatric pleomorphic myxoid liposarcoma reveals near-haploidization and loss of the RB1 gene.
(
- Contribution to journal › Article
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Mark
L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like domains.
2016) In Clinical Genetics(
- Contribution to journal › Article
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Mark
Patterns and Frequencies of Acquired and Constitutional Uniparental Isodisomies in Pediatric and Adult B-Cell Precursor Acute Lymphoblastic Leukemia.
(
- Contribution to journal › Article
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Mark
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.
2016) In Nature Genetics(
- Contribution to journal › Article
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Mark
The fetal thymus has a unique genomic copy number profile resulting from physiological T cell receptor gene rearrangement
(
- Contribution to journal › Article
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Mark
Leukemic stem cell quantification in newly diagnosed chronic myeloid leukemia patients predicts response to nilotinib therapy
(
- Contribution to journal › Article
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Mark
Neuroblastoma patient-derived orthotopic xenografts reflect the microenvironmental hallmarks of aggressive patient tumours
(
- Contribution to journal › Article
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Mark
Single nucleotide polymorphism array analysis of clonal evolution in younger adult acute lymphoblastic leukemia
(
- Contribution to journal › Article
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Mark
Core Circadian Clock Genes Regulate Leukemia Stem Cells in AML
(
- Contribution to journal › Article
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Mark
Detailed gene dose analysis reveals recurrent focal gene deletions in pediatric B-cell precursor acute lymphoblastic leukemia
(
- Contribution to journal › Article
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Mark
Identification of ETV6-RUNX1-like and DUX4-rearranged subtypes in paediatric B-cell precursor acute lymphoblastic leukaemia
(
- Contribution to journal › Article
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Mark
The genetic landscape of paediatric de novo acute myeloid leukaemia as defined by single nucleotide polymorphism array and exon sequencing of 100 candidate genes
(
- Contribution to journal › Article
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Mark
Gene fusions in soft tissue tumors: Recurrent and overlapping pathogenetic themes.
(
- Contribution to journal › Scientific review
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Mark
FN1-EGF gene fusions are recurrent in calcifying aponeurotic fibroma.
(
- Contribution to journal › Article
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Mark
Primary Pseudomyogenic Hemangioendothelioma of Bone.
(
- Contribution to journal › Article
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Mark
PKC activation sensitizes basal-like breast cancer cell lines to Smac mimetics
(
- Contribution to journal › Article
- 2015
-
Mark
Multiple mechanisms of MYCN dysregulation in Wilms tumour.
(
- Contribution to journal › Article
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Mark
Novel gene targets detected by genomic profiling in a consecutive series of 126 adults with acute lymphoblastic leukemia
(
- Contribution to journal › Article
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Mark
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.
(
- Contribution to journal › Article
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Mark
IL1RAP expression as a measure of leukemic stem cell burden at diagnosis of chronic myeloid leukemia predicts therapy outcome.
(
- Contribution to journal › Article
-
Mark
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.
(
- Contribution to journal › Article