Paternal uniparental disomy of chromosome 14
MONDO:0011975Also known as: UPD(14)pat, paternal uniparental disomy of chromosome 14, paternal uniparental disomy of chromosome type 14, KAGAMI-Ogata syndrome, paternal uniparental disomy 14, uniparental disomy, paternal, chromosome 14
7 clinical trials for this condition and its sub-types.
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Scientists map DNA 'Signatures' in rare fetal diseases
Knowledge-focused Recruiting nowThis study looks at DNA methylation patterns (chemical tags on DNA) in fetuses with rare genetic diseases. Researchers will analyze DNA from amniotic fluid and tissue samples to create reference signatures. The goal is to improve diagnosis of these conditions before birth. The st…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:01 UTC
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2000-Patient study aims to uncover hidden metabolic risks in rare genetic disorders
Knowledge-focused Recruiting nowThis observational study will follow 2000 children and adults with imprinting disorders—rare genetic conditions like Silver-Russell and Prader-Willi syndromes. Researchers aim to describe the natural history of these diseases and identify common metabolic profiles, risks for obes…
Sponsor: Institut National de la Santé Et de la Recherche Médicale, France • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:05 UTC
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Gene tests for sick newborns: a lifesaver in the NICU?
Knowledge-focused Recruiting nowThis study is testing whether using rapid genetic sequencing can help doctors diagnose and treat birth defects in newborns in intensive care. Researchers will enroll 2,000 babies and compare death rates, disability rates, and genetic findings. The goal is to see if personalized t…
Sponsor: Children's Hospital of Fudan University • Aim: Knowledge-focused
Last updated Jun 26, 2026 13:36 UTC