Lumpers or Splitters? The Role of Molecular Diagnosis in Leber Congenital Amaurosis

2006 ◽  
Vol 27 (4) ◽  
pp. 113-115 ◽  
Author(s):  
Elias I. Traboulsi ◽  
Robert Koenekoop ◽  
Edwin M. Stone
Keyword(s):  
Molecular Diagnosis ◽  
Leber Congenital Amaurosis

scholarly journals A Novel SRY Pathogenic Variant from a 46,XY Female Harboring a Nonsense Point Mutation (G to A) in Position 293

2021 ◽  
Author(s):  
Shengfang Qin ◽  
Xueyan Wang ◽  
Yunxing Li
Keyword(s):  
Point Mutation ◽  
Gene Mutation ◽  
Molecular Diagnosis ◽  
Novel Mutation ◽  
Pathogenic Variant ◽  
Sry Gene ◽  
Pathogenic Role ◽  
Common Cause ◽  
Xy Female

SRY gene mutation is a common cause of 46,XY female. We report a 46,XY female with a novel mutation of SRY c.293G>A (p.Trp98ter). Our report provides evidence for a pathogenic role of the SRY gene c.293G>A mutation in an individual and enlarges the spectrum of molecular diagnosis for these patients.

scholarly journals Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort

2015 ◽  
Vol 56 (6) ◽  
pp. 3642 ◽  
Author(s):  
Hui Wang ◽  
Xia Wang ◽  
Xuan Zou ◽  
Shan Xu ◽  
Hui Li ◽  
...  
Keyword(s):  
Molecular Diagnosis ◽  
Leber Congenital Amaurosis

scholarly journals Cataract and myotonic dystrophy: the role of molecular diagnosis.

1993 ◽  
Vol 77 (9) ◽  
pp. 579-583 ◽  
Author(s):  
W Reardon ◽  
J C MacMillan ◽  
J Myring ◽  
H G Harley ◽  
S A Rundle ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Molecular Diagnosis

scholarly journals Primary Immunodeficiencies in India: Molecular Diagnosis and the Role of Next-Generation Sequencing

2020 ◽  
Author(s):  
Arun Kumar Arunachalam ◽  
Madhavi Maddali ◽  
Fouzia N. Aboobacker ◽  
Anu Korula ◽  
Biju George ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Molecular Diagnosis ◽  
Primary Immunodeficiencies ◽  
Next Generation ◽  
Generation Sequencing

Labial lesion in a Portuguese man returned from Brazil – The role of molecular diagnosis

2018 ◽  
Vol 22 ◽  
pp. 80-81
Author(s):  
António Ferreira ◽  
Augusta Silva ◽  
Mariana Cruz ◽  
Raquel Sabino ◽  
Cristina Veríssimo
Keyword(s):  
Molecular Diagnosis
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