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Article

Maternally inherited duplication of the possible imprinted 14q31 region.

Journal of medical genetics - 1 May 2001

Mignon-Ravix C, Mugneret F, Stavropoulou C, Depetris D, Khau Van Kien P, Mattei M G

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Share to Chromosome Banding
Share to Chromosome Segregation
Share to Chromosomes, Human, Pair 14
Share to Developmental Disabilities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Duplication

Share to Genomic Imprinting

Share to Mothers

Share to Psychomotor Disorders

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Identifiers

PMID: 11403046
DOI: 10.1136/jmg.38.5.343
PMCID: PMC1734862

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Maternally inherited duplication of the possible imprinted 14q31 region.PMID 11403046Read ↗

Duplication 14(q24.3q31) in a father and daughter: delineation of a possible imprinted region.Semantic proximity Read ↗

Comparative analysis of isodisomic and heterodisomic segments in cases with maternal uniparental disomy 14 suggests more than one imprinted region.Semantic proximity Read ↗

Prenatal genetic testing for a microdeletion at chromosome 14q32.2 imprinted region leading to UPD(14)pat-like phenotype.Semantic proximity Read ↗

Expanding the phenotype of duplication of the Rubinstein-Taybi region on 16p13.3.Semantic proximity Read ↗

Search for imprinted regions on chromosome 14: Comparison of maternal and paternal UPD cases with cases of chromosome 14 deletionSemantic proximity Read ↗

Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32Semantic proximity Read ↗

Transmitted duplication of 12q21.32-12q22 includes 48 genes and has no apparent phenotypic consequences.Semantic proximity Read ↗

Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation.Semantic proximity Read ↗

Clinical features associated with copy number variations of the 14q32 imprinted gene cluster.Semantic proximity Read ↗

A 33-year-old male patient with paternal derived duplication of 14q11.2-14q22.1~22.3: clinical course, phenotypic and genotypic findings.Semantic proximity Read ↗

Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype.Semantic proximity Read ↗

Interstitial deletion 14q31.1q31.3 transmitted from a mother to her daughter, both with features of hemifacial microsomia.Semantic proximity Read ↗

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