Paternally InheritedIGF2Mutation and Growth Restriction

• Diagnosis and management of Silver–Russell syndrome: second international consensus statement

  2026 Nature Reviews Endocrinology review Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access

  0

  citations
• Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype–Phenotype Correlation

  2026 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access

  1

  citations
• Maternal Effect Mutations: A Novel Cause for Human Reproductive Failure

  2021 Geburtshilfe und Frauenheilkunde article Medicine Reproductive Biology and Fertility Open access

  10

  citations
• Growth failure: ‘idiopathic’ only after a detailed diagnostic evaluation

  2021 Endocrine Connections article Medicine Growth Hormone and Insulin-like Growth Factors Open access

  33

  citations
• One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome

  2021 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access

  25

  citations
• Novel mutation points to a hot spot in CDKN1C causing Silver–Russell syndrome

  2020 Clinical Epigenetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access

  21

  citations
• Disorders of IGFs and IGF-1R signaling pathways

  2020 Molecular and Cellular Endocrinology article Medicine Growth Hormone and Insulin-like Growth Factors Open access

  151

  citations
• HMGA2 Variants in Silver-Russell Syndrome: Homozygous and Heterozygous Occurrence

  2020 The Journal of Clinical Endocrinology & Metabolism article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  27

  citations
• Disturbed genomic imprinting and its relevance for human reproduction: causes and clinical consequences

  2020 Human Reproduction Update article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access

  105

  citations

9 results