Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences

• 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
• Prenatal testing for imprinting disorders: A laboratory perspective

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

  11

  citations
• Further understanding of paternal uniparental disomy in Beckwith-Wiedemann syndrome

  2022 Expert Review of Endocrinology & Metabolism article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting

  7

  citations
• Overgrowth-associated partial trisomy 15q24.3-qter and mosaic 11p15.5 duplication involving Silver-Russell region in a patient with lateralized asymmetry and developmental delay

  2021 Clinical Dysmorphology article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting

  1

  citations
• Unusual deletion of the maternal 11p15 allele in Beckwith–Wiedemann syndrome with an impact on both imprinting domains

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

  10

  citations
• Clinical spectrum and management of imprinting disorders

  2020 Medizinische Genetik article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access

  11

  citations
• Molecular testing for imprinting disorders

  2020 Medizinische Genetik article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access

  6

  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
• 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
• Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 ( H19 / IGF2 : TSS‐DMR ) in 11p15.5

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

  7

  citations
• Paternal 132 bp deletion affecting KCNQ1OT1 in 11p15.5 is associated with growth retardation but does not affect imprinting

  2020 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting

  14

  citations
• Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome

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

  17

  citations

13 results