Uniparental disomy is a chromosomic disorder in the first place

T Liehr - Molecular Cytogenetics, 2022 - Springer
Background Uniparental disomy (UPD) is well-known to be closely intermingled with
imprinting disorders. Besides, UPD can lead to a disease by 'activation'of a recessive gene …

Cytogenetic contribution to uniparental disomy (UPD)

T Liehr - Molecular cytogenetics, 2010 - Springer
Uniparental disomy (UPD) is often considered as an event to be characterized exclusively
by molecular genetic or epigenetic approaches. This review shows that at least one third of …

[图书][B] Uniparental disomy (UPD) in clinical genetics: A guide for clinicians and patients

T Liehr - 2014 - Springer
Uniparental disomy (UPD) is a topic, which normally is considered to be something
molecular genetics has to take care of exclusively. As UPD is characterized by microsatellite …

Uniparental disomy (UPD). Genomic imprinting and a case for new genetics (prenatal and clinical implications: the" Likon" concept).

E Engel - Annales de Genétique, 1997 - europepmc.org
Uniparental disomy (UPD) is often the result of an aneuploid event masquerading under the
features of diploidy. As such, it may never be recognized, being at 2 opposite phenotypic …

Complex and segmental uniparental disomy updated

D Kotzot - Journal of medical genetics, 2008 - jmg.bmj.com
Objective: To review all cases with segmental and/or complex uniparental disomy (UPD)
and to discuss the impact of these cases on medical genetics. Design: Searching for …

Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated

D Kotzot, G Utermann - … Journal of Medical Genetics Part A, 2005 - Wiley Online Library
Uniparental disomy (UPD) describes the inheritance of a pair of chromosomes from only one
parent. The concept was introduced in Medical Genetics by Engel (1980); Am J Med Genet …

Uniparental disomy: origin, frequency, and clinical significance

P Benn - Prenatal diagnosis, 2021 - Wiley Online Library
Uniparental disomy (UPD) is defined as two copies of a whole chromosome derived from the
same parent. There can be multiple mechanisms that lead to UPD; these are reviewed in the …

Uniparental disomy revisited: the first twelve years

E Engel - American journal of medical genetics, 1993 - Wiley Online Library
Uniparental disomy (UPD), the exceptional derivation of a pair of the offspring chromosomes
from one parent only, may be compatible with normal or abnormal development and can …

Abnormal phenotypes in uniparental disomy (UPD): fundamental aspects and a critical review with bibliography of UPD other than 15

D Kotzot - American journal of medical genetics, 1999 - Wiley Online Library
Uniparental disomy (UPD) is the inheritance of both homologous chromosomes from only
one parent. The bases are always two events, either two meiotic, or one meiotic and one …

Mechanisms leading to uniparental disomy and their clinical consequences

WP Robinson - Bioessays, 2000 - Wiley Online Library
Uniparental disomy (UPD) refers to the situation in which both copies of a chromosome pair
have originated from one parent. In humans, it can result in clinical conditions by producing …