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Uniparental disomy of paternal origin

MedGen UID:
1385386
Concept ID:
C4518513
Cell or Molecular Dysfunction
Synonym: Paternal uniparental disomy
SNOMED CT: Paternal uniparental disomy (726402006); Uniparental disomy of paternal origin (726402006)
 
Orphanet: ORPHA98154

Professional guidelines

PubMed

Mackay DJ, Temple IK, Shield JP, Robinson DO
Hum Genet 2005 Mar;116(4):255-61. Epub 2005 Jan 6 doi: 10.1007/s00439-004-1236-1. PMID: 15635480
Chotai KA, Payne SJ
J Med Genet 1998 Jun;35(6):472-5. doi: 10.1136/jmg.35.6.472. PMID: 9643288Free PMC Article
Kubota T, Aradhya S, Macha M, Smith AC, Surh LC, Satish J, Verp MS, Nee HL, Johnson A, Christan SL, Ledbetter DH
J Med Genet 1996 Dec;33(12):1011-4. doi: 10.1136/jmg.33.12.1011. PMID: 9004133Free PMC Article

Recent clinical studies

Diagnosis

Sebire NJ, May PC, Kaur B, Seckl MJ, Fisher RA
Diagn Pathol 2016 Feb 4;11:20. doi: 10.1186/s13000-016-0471-9. PMID: 26846439Free PMC Article

Prognosis

Sebire NJ, May PC, Kaur B, Seckl MJ, Fisher RA
Diagn Pathol 2016 Feb 4;11:20. doi: 10.1186/s13000-016-0471-9. PMID: 26846439Free PMC Article

Clinical prediction guides

Sebire NJ, May PC, Kaur B, Seckl MJ, Fisher RA
Diagn Pathol 2016 Feb 4;11:20. doi: 10.1186/s13000-016-0471-9. PMID: 26846439Free PMC Article

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