World's Best Scientists 2026 revealed!

D-Index & Metrics

Genetics

D-Index
52
Citations
7997
World Ranking
3808
National Ranking
48

Overview

Maria Anvret is affiliated with the Karolinska Institute in Sweden, a prominent institution known for its contributions to medical and life sciences research.

There are no recorded recent papers, co-authors, or listed frequent publication venues associated with Maria Anvret in the provided data. Similarly, information on book publications, main fields of study, subfields, and specific main topics covered by their work is not available.

There are no awards documented as having been received by Maria Anvret based on the given source data.

The absence of detailed publication or research topic information limits the ability to specify the particular areas of scientific focus or contributions made by Maria Anvret. However, affiliation with the Karolinska Institute suggests a connection to biomedical research or related fields inherent to that research environment.

Best Publications

  • Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy.

    J Buxton;P Shelbourne;J Davies;C Jones

  • A human XY female with a frame shift mutation in the candidate testis-determining gene SRY.

    Ralf J. Jäger;Maria Anvret;Kerstin Hall;Gerd Scherer

  • The origin of the major cystic fibrosis mutation (ΔF508) in European populations

    N. Morral;J. Bertranpetit;X. Estivill;V. Nunes

  • Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parent

    H. Telenius;H.P.H. Kremer;J. Thellmann;S.E. Andrew

  • Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy

    M. Anvret;G. Ahlberg;U. Grandell;B. Hedberg

  • DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence

    F. Squitieri;S.E. Andrew;Y.P. Goldberg;B. Kremer

  • ALDH1 mRNA: presence in human dopamine neurons and decreases in substantia nigra in Parkinson's disease and in the ventral tegmental area in schizophrenia.

    Dagmar Galter;Silvia Buervenich;Andrea Carmine;Maria Anvret

  • NURR1 mutations in cases of schizophrenia and manic-depressive disorder.

    Silvia Buervenich;Andrea Carmine;Mariette Arvidsson;Fengqing Xiang

  • Huntington Disease Phenocopy Is a Familial Prion Disease

    Richard C. Moore;Fengqing Xiang;Jeffrey Monaghan;Dong Han

  • Documentation of Epstein-Barr virus infection in immunodeficient patients with life-threatening lymphoproliferative diseases by Epstein-Barr virus complementary RNA/DNA and viral DNA/DNA hybridization.

    Ari K. Saemundsen;David T. Purtilo;Kiyoshi Sakamoto;John L. Sullivan

  • Two genes encoding immune-regulatory molecules (LAG3 and IL7R) confer susceptibility to multiple sclerosis.

    Z Zhang;K Duvefelt;F Svensson;F Svensson;T Masterman

  • Documentation of Epstein-Barr Virus Infection in Immunodeficient Patients with Life-threatening Lymphoproliferative Diseases by Clinical, Virological, and Immunopathological Studies

    David T. Purtilo;Kiyoshi Sakamoto;Ari K. Saemundsen;John L. Sullivan

  • Guidelines for reporting clinical features in cases with MECP2 mutations

    Alison M. Kerr;Yoshiko Nomura;Dawna Armstrong;Maria Anvret

  • Huntington disease without CAG expansion: Phenocopies or errors in assignment

    S E Andrew;Y P Goldberg;B Kremer;F Squitieri

  • Mutation screening in Rett syndrome patients.

    Fengqing Xiang;Silvia Buervenich;Piero Nicolao;Mark E S Bailey

  • Characterization of the von Willebrand factor gene (VWF) in von Willebrand disease type III patients from 24 families of Swedish and Finnish origin.

    Z P Zhang;M Blombäck;N Egberg;G Falk

  • Dopamine D1 receptor number — a sensitive PET marker for early brain degeneration in Huntington's disease

    Göran Sedvall;Per Karlsson;Anders Lundin;Maria Anvret

  • Direct Diagnosis of Myotonic Dystrophy with a Disease-Specific DNA Marker

    Shelbourne P;Davies J;Buxton J;Anvret M

  • Ancestral differences in the distribution of the delta 2642 glutamic acid polymorphism is associated with varying CAG repeat lengths on normal chromosomes : insights into the genetic evolution of Huntington disease.

    E Almqvist;N Spence;K Nichol;S E Andrew

  • Somatic mosaicism in sperm is associated with intergenerational (CAG)n changes in Huntington disease

    H. Telenius;E. Almqvist;B. Kremer;N. Spence

Frequent Co-Authors

Michael R. Hayden
Michael R. Hayden University of British Columbia
Lars Olson
Lars Olson Karolinska Institute
Göran Sedvall
Göran Sedvall Karolinska Institute
Magnus Nordenskjöld
Magnus Nordenskjöld Karolinska Institute
Ulf Pettersson
Ulf Pettersson Uppsala University
Jan Hillert
Jan Hillert Karolinska Institute
George Klein
George Klein Karolinska Institute
Milan Macek
Milan Macek Charles University
Marianne Schwartz
Marianne Schwartz University of Copenhagen
Leena Peltonen
Leena Peltonen University of Helsinki

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Best Scientists Citing Maria Anvret

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