Phenotypic consequences of gene disruption by a balanced de novo translocation involving SLC6A1 and NAA15

2018 ◽  
Vol 61 (10) ◽  
pp. 596-601
Author(s):  
Karolina Pesz ◽  
Victor Murcia Pienkowski ◽  
Agnieszka Pollak ◽  
Piotr Gasperowicz ◽  
Maciej Sykulski ◽  
...  
Keyword(s):  
Gene Disruption ◽  
De Novo ◽  
De Novo Translocation

scholarly journals Identification and molecular characterization of de novo translocation t(8;14)(q22.3;q13) associated with a vascular and tissue overgrowth syndrome

2001 ◽  
Vol 95 (3-4) ◽  
pp. 183-188 ◽  
Author(s):  
Q. Wang ◽  
A.A. Timur ◽  
P. Szafranski ◽  
A. Sadgephour ◽  
V. Jurecic ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
De Novo ◽  
Overgrowth Syndrome ◽  
De Novo Translocation

De novo translocation t(5;18)(q33.1;q12.1) associated with autistic disorder

2004 ◽  
Vol 129A (1) ◽  
pp. 98-100 ◽  
Author(s):  
Peter M. Kroisel ◽  
Christian Windpassinger ◽  
Klaus Wagner ◽  
Erwin Petek ◽  
John B. Vincent ◽  
...  
Keyword(s):  
Autistic Disorder ◽  
De Novo ◽  
De Novo Translocation

scholarly journals Breakpoint mapping of a novel de novo translocation t(X;20)(q11.1;p13) by positional cloning and long read sequencing

Genomics ◽  
2019 ◽  
Vol 111 (5) ◽  
pp. 1108-1114 ◽  
Author(s):  
Usha R. Dutta ◽  
Sudha N. Rao ◽  
Vijaya Kumar Pidugu ◽  
Vineeth V.S. ◽  
Amrita Bhattacherjee ◽  
...  
Keyword(s):  
Positional Cloning ◽  
De Novo ◽  
Long Read ◽  
Breakpoint Mapping ◽  
De Novo Translocation

Tuberous sclerosis in a child with de novo translocation t(3; 12) (p26.3; q23.3)

2008 ◽  
Vol 40 (4) ◽  
pp. 326-328 ◽  
Author(s):  
R. Fahsold ◽  
H.-D. Rott ◽  
U. Claussen ◽  
B. Schmalenberger
Keyword(s):  
Tuberous Sclerosis ◽  
De Novo ◽  
De Novo Translocation

De novo translocation t(5;9)(q11.2;p22) associated with hydrops fetalis and cystic hygroma

2012 ◽  
Vol 31 (2) ◽  
pp. 39-42 ◽  
Author(s):  
Kristen Eisbrenner ◽  
Thora S. Steffensen ◽  
Valerie E. Whiteman ◽  
Enid Gilbert-Barness
Keyword(s):  
De Novo ◽  
Cystic Hygroma ◽  
Hydrops Fetalis ◽  
De Novo Translocation

scholarly journals A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome.

1991 ◽  
Vol 28 (9) ◽  
pp. 639-640 ◽  
Author(s):  
M Ireland ◽  
C English ◽  
I Cross ◽  
W T Houlsby ◽  
J Burn
Keyword(s):  
De Novo ◽  
Cornelia De Lange Syndrome ◽  
Cornelia De Lange ◽  
De Novo Translocation
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