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Uniparental Disomy
Known as:
Disomy, Uniparental
, Uniparental Disomy [Disease/Finding]
, Uniparental Disomies
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The presence in a cell of two paired chromosomes from the same parent, with no chromosome of that pair from the other parent. This chromosome…
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National Institutes of Health
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Related topics
Related topics
11 relations
Narrower (8)
Chromosome 1, uniparental disomy 1q12 q21
Chromosome 15, trisomy mosaicism
Chromosome 8, mosaic trisomy
Chromosome 9, trisomy mosaic
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Pseudovaginal Perineoscrotal Hypospadias
aspects of radiation effects
chemically induced
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Pseudohypoparathyroidism type 1 b due to paternal uniparental disomy of chromosome 20 q : A case report
Ji Hyen Lee
,
H. Kim
,
Gu-Hwan Kim
,
H. Yoo
2017
Corpus ID: 73585146
actions, but also most commonly influence thyroid stimulating hormone and, rarely, gonadotrophins and growth hormone releasing…
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2007
2007
Lenalidomide as induction therapy before allogeneic stem cell transplantation in a patient with proliferative CMML-2 and del(5q) not involving the EGR1 locus
U. Platzbecker
,
B. Mohr
,
+4 authors
M. Bornhäuser
Leukemia
2007
Corpus ID: 12045411
Myelodysplastic syndromes (MDSs) comprise a heterogeneous group of disorders. Recently, the WHO (World Health Organization…
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Review
2003
Review
2003
Presumed mutation in a microsatellite marker mimicking segmental uniparental disomy in a case of a small supernumerary marker chromosome detected at prenatal diagnosis
F. von Eggeling
,
S. Langer
,
+4 authors
D. Kotzot
Clinical Genetics
2003
Corpus ID: 44790440
To the Editor: Engel introduced the concept of uniparental disomy (UPD), the inheritance of a pair of chromosomes from only one…
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2001
2001
Transient Neonatal Diabetes Mellitus in a Child with Paternal Uniparental Disomy of Chromosome 6
T. Milenković
,
D. Zdravković
,
R. Gardner
,
M. Ignjatović
,
B. Janković
Journal of Pediatric Endocrinology & Metabolism…
2001
Corpus ID: 24272320
We report a male infant with transient neonatal diabetes mellitus (TNDM; MIM 601410), macroglossia, hypertelorism, umbilical…
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Review
1999
Review
1999
Search for uniparental disomy 14 in balanced Robertsonian translocation carriers
T. Eggermann
,
Michael Wolf
,
+5 authors
Peter Kaiser
Clinical Genetics
1999
Corpus ID: 38306922
To the Editor: Human carriers of Robertsonian translocations (RT) have been identified as a risk group for uniparental disomy…
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1997
1997
Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3.
V. Greger
,
J. Knoll
,
+6 authors
M. Lalande
American Journal of Human Genetics
1997
Corpus ID: 11838145
Angelman syndrome (AS) most frequently results from large (> or = 5 Mb) de novo deletions of chromosome 15q11-q13. The deletions…
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1994
1994
Maternal uniparental disomy of chromosome 14 in a boy with t(14q14q) associated with a paternal t(13q14q)
Darrell J. Tomkins
,
J. Waye
,
D. Whelan
1994
Corpus ID: 80871381
An 11-year-old boy was referred for chromosomal analysis because of precocious development and behavioral problems suggestive of…
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1991
1991
Chromosome 15 uniparental disomy is not frequent in Angelman syndrome.
E. Engel
American Journal of Human Genetics
1991
Corpus ID: 7522165
1987
1987
Morphometric analysis of uniparental Aphytis reared from chaff scalec Parlatoria pergandii Comstockc on Texas citrus lHymenopterac Aphelinidaes Homopterac Diaspididaer
J. Woolley
,
H. Browning
1987
Corpus ID: 86277519
1980
1980
[A new genetic concept: the uniparental disomy and its potential effect, the isodisomy (author's transl)].
E. Engel
Journal de genetique humaine
1980
Corpus ID: 19803137
In recent years, cytogenetic studies of spontaneous abortion products have disclosed the relatively high frequency of aneuploid…
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