scholarly journals Mitochondrial fission factor gene mutation: A dilemma for prenatal diagnosis

2021 ◽  
Vol 11 (2) ◽  
pp. 114
Author(s):  
Charu Sharma ◽  
Arunima Saini ◽  
Meenakshi Gothwal ◽  
Manisha Jhirwal ◽  
Payal Patwa
Keyword(s):  
Prenatal Diagnosis ◽  
Gene Mutation ◽  
Mitochondrial Fission ◽  
Factor Gene

An ACVRL1 gene mutation presenting as vein of Galen malformation at prenatal diagnosis

2020 ◽  
Vol 182 (5) ◽  
pp. 1255-1258 ◽  
Author(s):  
Caterina De Luca ◽  
Elisa Bevilacqua ◽  
Dominique A. Badr ◽  
Mieke M. Cannie ◽  
Teresa C. Sanchez ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Gene Mutation ◽  
Vein Of Galen ◽  
Vein Of Galen Malformation

Potential implications of a ciliary neurotrophic factor gene mutation in a german population of patients with motor neuron disease

1998 ◽  
Vol 21 (2) ◽  
pp. 236-238 ◽  
Author(s):  
Ralf Giess ◽  
Rudolf Goetz ◽  
Bertold Schrank ◽  
Guenter Ochs ◽  
Michael Sendtner ◽  
...  
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Gene Mutation ◽  
Neurotrophic Factor ◽  
Ciliary Neurotrophic Factor ◽  
German Population ◽  
Factor Gene

Prenatal Diagnosis of Twin Fetuses with a Novel AR Gene Mutation in a Chinese Family of Complete Androgen Insensitivity Syndrome

2017 ◽  
Vol 36 (6) ◽  
pp. 432-436
Author(s):  
Weiqing Wu ◽  
Qian Geng ◽  
Yang Liu ◽  
Zhiyong Xu ◽  
Peining Li ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Gene Mutation ◽  
Androgen Insensitivity Syndrome ◽  
Chinese Family ◽  
Complete Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity

scholarly journals Gene Mutation Analysis and Prenatal Diagnosis of the Ornithine Transcarbamylase (OTC) Gene in Two Families with Ornithine Transcarbamylase Deficiency

2018 ◽  
Vol 24 ◽  
pp. 7431-7437
Author(s):  
Sitao Li ◽  
Yao Cai ◽  
Congcong Shi ◽  
Mengxian Liu ◽  
Bingqing Liu ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Gene Mutation ◽  
Mutation Analysis ◽  
Ornithine Transcarbamylase ◽  
Ornithine Transcarbamylase Deficiency ◽  
Gene Mutation Analysis

scholarly journals ENCEPHALOPATHY DUE TO MUTATION IN MITOCHONDRIAL FISSION FACTOR GENE

2020 ◽  
Vol 07 (04) ◽  
pp. 184-187
Author(s):  
Ansh Agarwal ◽  
Kashish Goyal ◽  
Priyanshu Mathur ◽  
Avisha Mathur
Keyword(s):  
Mitochondrial Fission ◽  
Factor Gene

scholarly journals Clinical and Biochemical Features in a Patient With Mitochondrial Fission Factor Gene Alteration

2018 ◽  
Vol 9 ◽  
Author(s):  
Alessia Nasca ◽  
Francesca Nardecchia ◽  
Anna Commone ◽  
Michela Semeraro ◽  
Andrea Legati ◽  
...  
Keyword(s):  
Mitochondrial Fission ◽  
Factor Gene ◽  
Gene Alteration ◽  
Biochemical Features

Cystic fibrosis prenatal diagnosis: Confirmation of an equivocal microvillar enzyme result by direct analysis of the common gene mutation

1990 ◽  
Vol 10 (9) ◽  
pp. 613-616 ◽  
Author(s):  
W. F. Carey ◽  
P. V. Nelson ◽  
S. Raymond ◽  
C. P. Morris
Keyword(s):  
Cystic Fibrosis ◽  
Prenatal Diagnosis ◽  
Gene Mutation ◽  
Direct Analysis ◽  
Common Gene ◽  
The Common

Association of the leukemia inhibitory factor gene mutation and the antiphospholipid antibodies in the peripheral blood of infertile women

2007 ◽  
Vol 52 (5) ◽  
pp. 543-548 ◽  
Author(s):  
M. Králíčková ◽  
Z. Ulčová-Gallová ◽  
R. Šíma ◽  
T. Vaněček ◽  
P. Šíma ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Peripheral Blood ◽  
Leukemia Inhibitory Factor ◽  
Antiphospholipid Antibodies ◽  
Inhibitory Factor ◽  
Factor Gene ◽  
Infertile Women

scholarly journals VP16.19: Prenatal diagnosis of a case of Noonan syndrome with RAF1 gene mutation using clinical‐exome sequencing

2021 ◽  
Vol 58 (S1) ◽  
pp. 168-168
Author(s):  
S.T. Vo ◽  
T.T. Le ◽  
C.X. Nguyen ◽  
T.N. Tran
Keyword(s):  
Prenatal Diagnosis ◽  
Exome Sequencing ◽  
Gene Mutation ◽  
Noonan Syndrome ◽  
Clinical Exome Sequencing

Prenatal Diagnosis in Combined Antithrombin and Factor V Gene Mutation

1996 ◽  
Vol 94 (4) ◽  
pp. 753-755 ◽  
Author(s):  
David A. Lane ◽  
Karin Auberger ◽  
Helen Ireland ◽  
Adelbert A. Roscher ◽  
Swee Lay Thein
Keyword(s):  
Prenatal Diagnosis ◽  
Gene Mutation ◽  
Factor V ◽  
Factor V Gene ◽  
V Gene
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