Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of theEP300gene

2014 ◽  
Vol 87 (2) ◽  
pp. 148-154 ◽  
Author(s):  
G. Negri ◽  
D. Milani ◽  
P. Colapietro ◽  
F. Forzano ◽  
M. Della Monica ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Novel Mutations

scholarly journals Phenotypic and Molecular Characterization of Optochin-Resistant Streptococcus pneumoniae Isolates from Brazil, with Description of Five Novel Mutations in the atpC Gene

2013 ◽  
Vol 51 (10) ◽  
pp. 3242-3249 ◽  
Author(s):  
T. C. A. Pinto ◽  
A. R. V. Souza ◽  
S. E. C. M. de Pina ◽  
N. S. Costa ◽  
A. A. Borges Neto ◽  
...  
Keyword(s):  
Streptococcus Pneumoniae ◽  
Molecular Characterization ◽  
Novel Mutations

Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder

2010 ◽  
Vol 33 (S3) ◽  
pp. 83-90 ◽  
Author(s):  
Sing-Chung Li ◽  
Chiao-Ming Chen ◽  
Jennifer L. Goldstein ◽  
Jer-Yuarn Wu ◽  
Emmanuelle Lemyre ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Novel Mutations ◽  
Type Iv

Molecular characterization of leukocyte adhesion deficiency-I in Indian patients: Identification of 9 novel mutations

2015 ◽  
Vol 54 (3) ◽  
pp. 217-223 ◽  
Author(s):  
Manisha Madkaikar ◽  
Khushnooma Italia ◽  
Maya Gupta ◽  
Sushant Chavan ◽  
Anju Mishra ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Leukocyte Adhesion ◽  
Leukocyte Adhesion Deficiency ◽  
Novel Mutations ◽  
Indian Patients

scholarly journals Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations

2016 ◽  
Vol 17 (1) ◽  
Author(s):  
Daniel F. Garcia ◽  
José S. Camelo ◽  
Greice A. Molfetta ◽  
Marlene Turcato ◽  
Carolina F. M. Souza ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Clinical Profile ◽  
Novel Mutations

Molecular characterization of 21 X-ALD Portuguese families: identification of eight novel mutations in the ABCD1 gene

2002 ◽  
Vol 76 (1) ◽  
pp. 62-67 ◽  
Author(s):  
Carla P Guimarães ◽  
Manuela Lemos ◽  
Clara Sá-Miranda ◽  
Jorge E Azevedo
Keyword(s):  
Molecular Characterization ◽  
Novel Mutations ◽  
Abcd1 Gene

scholarly journals Molecular Characterization of Fluoroquinolone-Resistant Moraxella catarrhalis Variants Generated In Vitro by Stepwise Selection

2017 ◽  
Vol 61 (10) ◽  
Author(s):  
Kageto Yamada ◽  
Ryoichi Saito ◽  
Saori Muto ◽  
Machiko Kashiwa ◽  
Yoshiko Tamamori ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Moraxella Catarrhalis ◽  
Respiratory Infections ◽  
Fluoroquinolone Resistance ◽  
Novel Mutations ◽  
Content Type ◽  
Stepwise Selection ◽  
Resistant Strains

ABSTRACT Moraxella catarrhalis causes respiratory infections. In this study, fluoroquinolone-resistant strains were selected in vitro to evaluate the mechanism of fluoroquinolone resistance. Strains with reduced fluoroquinolone susceptibility were obtained by stepwise selection in levofloxacin, and fluoroquinolone targets gyr and par were sequenced. Six novel mutations in GyrA (D84Y, T594dup, and A722dup), GyrB (E479K and D439N), and ParE (Q395R) involved in M. catarrhalis resistance to fluoroquinolones were revealed.

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