Maternal uniparental disomy 14 revealed by alpha 1 antitrypsin deficiency

2014 ◽  
Vol 38 (5) ◽  
pp. 604-606 ◽  
Author(s):  
Noémie Laverdure ◽  
Alain Dabadie ◽  
Marie Pierre Alex-Cordier ◽  
Sylvie Odent ◽  
Alain Lachaux
Keyword(s):  
Uniparental Disomy ◽  
Maternal Uniparental Disomy ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin ◽  
Maternal Uniparental Disomy 14 ◽  
Uniparental Disomy 14

scholarly journals Maternal Uniparental Disomy 14 (UPD14) Identified by Clinical Exome Sequencing in an Adolescent with Diverticulosis

2019 ◽  
Vol 6 (3) ◽  
pp. e00021 ◽  
Author(s):  
Alvin P. Chan ◽  
Milene Mulatinho ◽  
Paul Iskander ◽  
Hane Lee ◽  
Julian A. Martinez-Agosto ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Uniparental Disomy ◽  
Maternal Uniparental Disomy ◽  
Clinical Exome Sequencing ◽  
Maternal Uniparental Disomy 14 ◽  
Uniparental Disomy 14

scholarly journals Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation

2017 ◽  
Vol 8 (3) ◽  
pp. 131-138 ◽  
Author(s):  
Veronica Bertini ◽  
Antonella Fogli ◽  
Rossella Bruno ◽  
Alessia Azzarà ◽  
Angela Michelucci ◽  
...  
Keyword(s):  
Robertsonian Translocation ◽  
Uniparental Disomy ◽  
Maternal Uniparental Disomy ◽  
Temple Syndrome ◽  
Maternal Uniparental Disomy 14 ◽  
Uniparental Disomy 14

Maternal Uniparental Disomy 14 Syndrome Demonstrates Prader-Willi Syndrome-Like Phenotype

2009 ◽  
Vol 155 (6) ◽  
pp. 900-903.e1 ◽  
Author(s):  
Kana Hosoki ◽  
Masayo Kagami ◽  
Touju Tanaka ◽  
Masaya Kubota ◽  
Kenji Kurosawa ◽  
...  
Keyword(s):  
Uniparental Disomy ◽  
Prader Willi Syndrome ◽  
Maternal Uniparental Disomy ◽  
Maternal Uniparental Disomy 14 ◽  
Uniparental Disomy 14

Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprintedDLK1/GTL2gene cluster

2008 ◽  
Vol 29 (9) ◽  
pp. 1141-1146 ◽  
Author(s):  
Karin Buiting ◽  
Deniz Kanber ◽  
José I. Martín-Subero ◽  
Wolfgang Lieb ◽  
Paulien Terhal ◽  
...  
Keyword(s):  
Clinical Features ◽  
Uniparental Disomy ◽  
Maternal Uniparental Disomy ◽  
Maternal Uniparental Disomy 14 ◽  
Uniparental Disomy 14

scholarly journals Trisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a 15‐year‐old girl

2016 ◽  
Vol 4 (3) ◽  
pp. 265-271 ◽  
Author(s):  
Samuel Balbeur ◽  
Bernard Grisart ◽  
Benoit Parmentier ◽  
Daniel Sartenaer ◽  
Pierre‐Emmanuel Leonard ◽  
...  
Keyword(s):  
Uniparental Disomy ◽  
Maternal Uniparental Disomy ◽  
Rescue Mechanism ◽  
Maternal Uniparental Disomy 14 ◽  
Uniparental Disomy 14 ◽  
Trisomy Rescue ◽  
Mosaic Trisomy
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