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

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.

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 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

scholarly journals Congenital dyserythropoietic anemias: molecular insights and diagnostic approach

Blood ◽  
2013 ◽  
Vol 122 (13) ◽  
pp. 2162-2166 ◽  
Author(s):  
Achille Iolascon ◽  
Hermann Heimpel ◽  
Anders Wahlin ◽  
Hannah Tamary
Keyword(s):  
Transcription Factor ◽  
Molecular Diagnosis ◽  
Critical Role ◽  
Diagnostic Approach ◽  
Transcription Factor Genes ◽  
Hereditary Disorders

Abstract The congenital dyserythropoietic anemias (CDAs) are hereditary disorders characterized by distinct morphologic abnormalities of marrow erythroblasts. The unveiling of the genes mutated in the major CDA subgroups (I-CDAN1 and II-SEC23B) has now been completed with the recent identification of the CDA III gene (KIF23). KIF23 encodes mitotic kinesin-like protein 1, which plays a critical role in cytokinesis, whereas the cellular role of the proteins encoded by CDAN1 and SEC23B is still unknown. CDA variants with mutations in erythroid transcription factor genes (KLF1 and GATA-1) have been recently identified. Molecular diagnosis of CDA is now possible in most patients.

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