The clinical phenotype of mosaicism for genome-wide paternal uniparental disomy: Two new reports

2007 ◽  
Vol 146A (2) ◽  
pp. 137-148 ◽  
Author(s):  
Meredith Wilson ◽  
Gregory Peters ◽  
Bruce Bennetts ◽  
George McGillivray ◽  
Zan He Wu ◽  
...  
Keyword(s):  
Clinical Phenotype ◽  
Uniparental Disomy ◽  
Genome Wide ◽  
Paternal Uniparental Disomy

Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: Diagnostic and management issues

2012 ◽  
Vol 161 (1) ◽  
pp. 13-20 ◽  
Author(s):  
Michal Inbar-Feigenberg ◽  
Sanaa Choufani ◽  
Cheryl Cytrynbaum ◽  
Yi-An Chen ◽  
Leslie Steele ◽  
...  
Keyword(s):  
Uniparental Disomy ◽  
Imprinting Disorders ◽  
Genome Wide ◽  
Paternal Uniparental Disomy ◽  
Management Issues

scholarly journals Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith–Wiedemann syndrome and ovarian steroid cell tumour

2012 ◽  
Vol 21 (7) ◽  
pp. 788-791 ◽  
Author(s):  
Magdalena Gogiel ◽  
Matthias Begemann ◽  
Sabrina Spengler ◽  
Lukas Soellner ◽  
Ulf Göretzlehner ◽  
...  
Keyword(s):  
Uniparental Disomy ◽  
Cell Tumour ◽  
Ovarian Steroid ◽  
Genome Wide ◽  
Paternal Uniparental Disomy

scholarly journals Multiple tumors due to mosaic genome‐wide paternal uniparental disomy

2019 ◽  
Vol 66 (6) ◽  
pp. e27715
Author(s):  
Floor A.M. Postema ◽  
Jet Bliek ◽  
Carel J.M. Noesel ◽  
Laura J.C.M. Zutven ◽  
Jan C. Oosterwijk ◽  
...  
Keyword(s):  
Uniparental Disomy ◽  
Multiple Tumors ◽  
Genome Wide ◽  
Paternal Uniparental Disomy

scholarly journals Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism

2020 ◽  
Vol 63 (1) ◽  
pp. 103632
Author(s):  
Henrik Thybo Christesen ◽  
Lene Gaarsmand Christensen ◽  
Åsa Mattsson Löfgren ◽  
Karen Brøndum-Nielsen ◽  
Johan Svensson ◽  
...  
Keyword(s):  
Uniparental Disomy ◽  
Congenital Hyperinsulinism ◽  
Genome Wide ◽  
Paternal Uniparental Disomy

Genome-Wide Paternal Uniparental Disomy as a Cause of Beckwith-Wiedemann Syndrome Associated with Recurrent Virilizing Adrenocortical Tumors

2014 ◽  
Vol 47 (07) ◽  
pp. 497-503
Author(s):  
F. Bertoin ◽  
E. Letouzé ◽  
P. Grignani ◽  
M. Patey ◽  
S. Rossignol ◽  
...  
Keyword(s):  
Uniparental Disomy ◽  
Adrenocortical Tumors ◽  
Genome Wide ◽  
Paternal Uniparental Disomy

A Case of Angelman Syndrome Arising as a Result of a De Novo Robertsonian Translocation

1996 ◽  
Vol 45 (1-2) ◽  
pp. 255-261 ◽  
Author(s):  
S. Ramsden ◽  
L. Gaunt ◽  
A. Seres-Santamaria ◽  
J. Clayton-Smith
Keyword(s):  
Angelman Syndrome ◽  
Robertsonian Translocation ◽  
De Novo ◽  
Uniparental Disomy ◽  
Male Child ◽  
Paternal Uniparental Disomy

AbstractA male child has been identified with Angelman syndrome. He has been shown to carry a de novo Robertsonian 15/15 translocation where both chromosome 15s have been derived from the father. Consequently the disease in this instance is due to paternal uniparental disomy.

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