Characterization of prevalence and health consequences of uniparental disomy in four million individuals from the general population
Meiotic nondisjunction and resulting aneuploidy can lead to severe health consequences in
humans. Aneuploidy rescue can restore euploidy but may result in uniparental disomy …
humans. Aneuploidy rescue can restore euploidy but may result in uniparental disomy …
[HTML][HTML] Accurate detection of clinically relevant uniparental disomy from exome sequencing data
K Yauy, N de Leeuw, HG Yntema, R Pfundt… - Genetics in Medicine, 2020 - Elsevier
Purpose Uniparental disomy (UPD) is the rare occurrence of two homologous chromosomes
originating from the same parent and is typically identified by marker analysis or single …
originating from the same parent and is typically identified by marker analysis or single …
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 …
same parent. There can be multiple mechanisms that lead to UPD; these are reviewed in the …
[PDF][PDF] Non-pathological paternal isodisomy of chromosome 2 detected from a genome-wide SNP scan
Uniparental disomy (UPD) occurs when both homologs of a chromosomal pair come from
the father (paternal UPD) or the mother (maternal UPD). Depending on the mechanism by …
the father (paternal UPD) or the mother (maternal UPD). Depending on the mechanism by …
Uniparental disomy in a population of 32,067 clinical exome trios
J Scuffins, J Keller-Ramey, L Dyer, G Douglas… - Genetics in …, 2021 - nature.com
Purpose Data on the clinical prevalence and spectrum of uniparental disomy (UPD) remain
limited. Trio exome sequencing (ES) presents a comprehensive method for detection of UPD …
limited. Trio exome sequencing (ES) presents a comprehensive method for detection of UPD …
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 …
from one parent only, may be compatible with normal or abnormal development and can …
Uniparental disomy and human disease: an overview
K Yamazawa, T Ogata… - American Journal of …, 2010 - Wiley Online Library
Uniparental disomy (UPD) refers to the situation in which both homologues of a
chromosomal region/segment have originated from only one parent. This can involve the …
chromosomal region/segment have originated from only one parent. This can involve the …
Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements
D Kotzot - Journal of medical genetics, 2001 - jmg.bmj.com
OBJECTIVE To review all cases with segmental and/or complex uniparental disomy (UPD),
to study aetiology and mechanisms of formation, and to draw conclusions. DESIGN …
to study aetiology and mechanisms of formation, and to draw conclusions. DESIGN …
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis
LK Conlin, BD Thiel, CG Bonnemann… - Human molecular …, 2010 - academic.oup.com
Mosaic aneuploidy and uniparental disomy (UPD) arise from mitotic or meiotic events. There
are differences between these mechanisms in terms of (i) impact on embryonic …
are differences between these mechanisms in terms of (i) impact on embryonic …
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 …
have originated from one parent. In humans, it can result in clinical conditions by producing …
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