scholarly journals Copy Number Variation in Patients with Disorders of Sex Development Due to 46,XY Gonadal Dysgenesis

PLoS ONE ◽  
2011 ◽  
Vol 6 (3) ◽  
pp. e17793 ◽  
Author(s):  
Stefan White ◽  
Thomas Ohnesorg ◽  
Amanda Notini ◽  
Kelly Roeszler ◽  
Jacqueline Hewitt ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Copy Number ◽  
Gonadal Dysgenesis ◽  
Disorders Of Sex Development ◽  
Sex Development ◽  
Xy Gonadal Dysgenesis ◽  
Number Variation

Copy number variation of two separate regulatory regions upstream ofSOX9causes isolated 46,XY or 46,XX disorder of sex development

2015 ◽  
Vol 52 (4) ◽  
pp. 240-247 ◽  
Author(s):  
Gwang-Jin Kim ◽  
Elisabeth Sock ◽  
Astrid Buchberger ◽  
Walter Just ◽  
Friederike Denzer ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Copy Number ◽  
Regulatory Regions ◽  
Disorder Of Sex Development ◽  
Sex Development ◽  
Number Variation

scholarly journals Copy number variation in the region harboring SOX9 gene in dogs with testicular/ovotesticular disorder of sex development (78,XX; SRY-negative)

2015 ◽  
Vol 5 (1) ◽  
Author(s):  
Malgorzata Marcinkowska-Swojak ◽  
Izabela Szczerbal ◽  
Hubert Pausch ◽  
Joanna Nowacka-Woszuk ◽  
Krzysztof Flisikowski ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Copy Number ◽  
Disorder Of Sex Development ◽  
Sex Development ◽  
Number Variation ◽  
Sox9 Gene

Identification of Novel Germline and Tumor-Specific Nucleotide Variants and Copy Number Variation in Clival Chordomas by Exome Sequencing

2015 ◽  
Vol 76 (S 01) ◽  
Author(s):  
Georgios Zenonos ◽  
Peter Howard ◽  
Maureen Lyons-Weiler ◽  
Wang Eric ◽  
William LaFambroise ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Exome Sequencing ◽  
Copy Number ◽  
Number Variation ◽  
Specific Nucleotide

The impact of paralog genes: detection of copy number variation in spinal muscle atrophy patients

BIOCELL ◽  
2018 ◽  
Vol 42 (3) ◽  
pp. 87-91 ◽  
Author(s):  
Sergio LAURITO ◽  
Juan A. CUETO ◽  
Jimena PEREZ ◽  
Mar韆 ROQU�
Keyword(s):  
Copy Number Variation ◽  
Muscle Atrophy ◽  
Copy Number ◽  
Number Variation ◽  
The Impact
Sign in / Sign up

Export Citation Format

Share Document