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TEMPLE SYNDROME
Known as:
Maternal Uniparental Disomy Chromosome 14 Syndrome
, UNIPARENTAL DISOMY, MATERNAL, CHROMOSOME 14
, mUPD14 Syndrome
A cause of obesity that results from inheritance of two copies of chromosome 14 from the mother, and no copy of chromosome 14 from the father.
National Institutes of Health
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Maternal uniparental disomy of the chromosome 14: need for growth hormone provocative tests also when a deficiency is not suspected
A. Tortora
,
Domenico La Sala
,
F. Lonardo
,
M. Vitale
BMJ Case Reports
2019
Corpus ID: 153289522
Uniparental disomy (UPD) is a congenital disease characterised by the presence of two homologous chromosomes inherited from one…
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2018
2018
Mild Autistic Spectrum Disorder in a 33 Year-old Male Japanese Patient with Temple Syndrome
S. Yatsuga
,
M. Kagami
,
+5 authors
Y. Koga
2018
Corpus ID: 80967502
Cytogenetic localization Patient Mother Assessment D14S608 14q12 213/221 209/213 Biparental D14S588 14q23-24.1 114 114 N.I…
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2018
2018
Molecular and clinical studies in eight patients with Temple syndrome
G. Gillessen‐Kaesbach
,
Beate Albrecht
,
+8 authors
J. Beygo
2018
Corpus ID: 261968352
Temple syndrome (TS14, #616222) is a rare imprinting disorder characterised by phenotypic features including preand postnatal…
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2017
2017
Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation
V. Bertini
,
A. Fogli
,
+5 authors
A. Valetto
Molecular Syndromology
2017
Corpus ID: 41713750
Maternal uniparental disomy of chromosome 14 (upd(14)mat) or Temple syndrome is an imprinting disorder associated with a…
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2017
2017
A rare cause of temple syndrome.
H. Luk
Clinical Dysmorphology
2017
Corpus ID: 26819780
An 11-year-old girl was referred from the regional paediatric department to the clinical genetic clinic for assessment of…
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2014
2014
UPD Related Syndromes Caused by Imprinting
T. Liehr
2014
Corpus ID: 68453220
UPD-related syndromes caused by imprinting include paternal UPD(6) syndrome (transient neonatal diabetes = TNDM), maternal UPD(7…
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1997
1997
Another case of maternal uniparental disomy chromosome 14 syndrome.
M. Splitt
,
J. Goodship
American journal of medical genetics
1997
Corpus ID: 2552417
1994
1994
Gazali-Temple syndrome.
S. McLeod
,
J. Sugar
,
B. R. Elejalde
,
A. Eng
,
R. Lebel
A M A Archives of Ophthalmology
1994
Corpus ID: 34883983
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