scholarly journals Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis

2016 ◽  
Vol 99 (5) ◽  
pp. 1015-1033 ◽  
Author(s):  
Zehra Ordulu ◽  
Tammy Kammin ◽  
Harrison Brand ◽  
Vamsee Pillalamarri ◽  
Claire E. Redin ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Next Generation Sequencing ◽  
Chromosomal Rearrangements ◽  
Next Generation ◽  
Nucleotide Level ◽  
Generation Sequencing

Identification of chromosomal rearrangements by next-generation sequencing in blastocysts derived from couples with balanced translocations

2019 ◽  
Vol 38 ◽  
pp. e43-e44
Author(s):  
Sirimarn Martkamchan ◽  
Sunanta Nabu ◽  
Wanwisa Suksalak ◽  
Chanakarn Jiramongkolrat ◽  
Sujin Chanchamroen ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Chromosomal Rearrangements ◽  
Next Generation ◽  
Balanced Translocations ◽  
Generation Sequencing

Prenatal Diagnosis of Tyrosinemia Type 1 Using Next Generation Sequencing

2016 ◽  
Vol 35 (4) ◽  
pp. 282-285 ◽  
Author(s):  
Maryam Rafati ◽  
Faezeh Mohamadhashem ◽  
Azadeh Hoseini ◽  
Somayeh Darzi Ramandi ◽  
Saeed Reza Ghaffari
Keyword(s):  
Prenatal Diagnosis ◽  
Next Generation Sequencing ◽  
Next Generation ◽  
Tyrosinemia Type 1 ◽  
Generation Sequencing

scholarly journals Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing

2011 ◽  
Vol 21 (10) ◽  
pp. 1720-1727 ◽  
Author(s):  
N. L. M. Sobreira ◽  
V. Gnanakkan ◽  
M. Walsh ◽  
B. Marosy ◽  
E. Wohler ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Chromosomal Rearrangements ◽  
Next Generation ◽  
Complex Chromosomal Rearrangements ◽  
Targeted Capture ◽  
Generation Sequencing

A new approach for Next Generation Sequencing in prenatal diagnosis applied to a case of Charcot-Marie-Tooth syndrome

2015 ◽  
Vol 35 (10) ◽  
pp. 1018-1021 ◽  
Author(s):  
Claudio Dello Russo ◽  
Francesco Padula ◽  
Gianluca Di Giacomo ◽  
Alvaro Mesoraca ◽  
Ivan Gabrielli ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Next Generation Sequencing ◽  
Next Generation ◽  
New Approach ◽  
Charcot Marie Tooth ◽  
Generation Sequencing
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