A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome

• 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
• Maternal uniparental disomy of chromosome 7: how chromosome 7-encoded imprinted genes contribute to the Silver–Russell phenotype

  2025 Clinical Epigenetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access

  6

  citations
• Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot Study

  2024 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access

  3

  citations
• Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome

  2024 JCI Insight article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access

  9

  citations
• Prenatal testing for Imprinting Disorders: A clinical perspective

  2023 Prenatal Diagnosis article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access

  11

  citations
• Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach

  2023 Clinical Epigenetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access

  15

  citations
• Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives

  2022 Endocrine Connections article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  5

  citations
• Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes

  2022 Molecular Cytogenetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access

  5

  citations
• Growth Restriction and Genomic Imprinting-Overlapping Phenotypes Support the Concept of an Imprinting Network

  2021 Genes article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access

  38

  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
• Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important

  2020 Journal of Molecular Medicine article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access

  20

  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

12 results