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Marita Lipsanen‐Nyman

Researcher Next ID · RN-039323

Researcher · Biochemistry, Genetics and Molecular Biology

University of Helsinki

Helsinki, Finland

Accepting doctoral researchersFunding unknown
Works count
385
Citation count
2,600
H-index
28
i10-index
45

Research interests

Biochemistry, Genetics and Molecular Biology
Medicine
Metabolism and Genetic Disorders
Genetic Syndromes and Imprinting
Mitochondrial Function and Pathology
Glycogen Storage Diseases and Myoclonus
Epigenetics and DNA Methylation

Publications

  • Submicroscopic genomic alterations in Silver–Russell syndrome and Silver–Russell-like patients

    Journal of Medical Genetics · 2009 · 10.1136/jmg.2009.069427

  • Clinically Distinct Epigenetic Subgroups in Silver-Russell Syndrome: The Degree ofH19Hypomethylation Associates with Phenotype Severity and Genital and Skeletal Anomalies

    The Journal of Clinical Endocrinology & Metabolism · 2008 · 10.1210/jc.2008-1805

  • The mutation spectrum in RECQL4 diseases

    European Journal of Human Genetics · 2008 · https://doi.org/10.1038/ejhg.2008.154

  • Absence of a Paternally Inherited FOXP2 Gene in Developmental Verbal Dyspraxia

    The American Journal of Human Genetics · 2006 · https://doi.org/10.1086/508902

  • A Narrow Segment of Maternal Uniparental Disomy of Chromosome 7q31-qter in Silver-Russell Syndrome Delimits a Candidate Gene Region

    The American Journal of Human Genetics · 2001 · 10.1086/316937

  • Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism

    Nature Genetics · 2000 · https://doi.org/10.1038/77053

  • High frequency of mutations in MODY and mitochondrial genes in Scandinavian patients with familial early-onset diabetes

    Diabetologia · 1999 · https://doi.org/10.1007/s001250051281

Current projects

    No projects listed.