scholarly journals Clinical features and molecular genetics of patients with ABCA4‐retinal dystrophies

2020 ◽  
Author(s):  
Josephine Prener Holtan ◽  
Ingvild Aukrust ◽  
Ragnhild Wivestad Jansson ◽  
Siren Berland ◽  
Ove Bruland ◽  
...  
Keyword(s):  
Molecular Genetics ◽  
Clinical Features ◽  
Retinal Dystrophies

Clinical features and molecular genetics of hereditary peripheral neuropathies

2002 ◽  
Vol 249 (12) ◽  
pp. 1629-1650 ◽  
Author(s):  
Gregor Kuhlenb�umer ◽  
Peter Young ◽  
Gert H�nermund ◽  
Bernd Ringelstein ◽  
Florian St�gbauer
Keyword(s):  
Molecular Genetics ◽  
Clinical Features ◽  
Peripheral Neuropathies

scholarly journals Molecular genetics of infantile-onset retinal dystrophies

Eye ◽  
2007 ◽  
Vol 21 (10) ◽  
pp. 1344-1351 ◽  
Author(s):  
P Moradi ◽  
A T Moore
Keyword(s):  
Molecular Genetics ◽  
Retinal Dystrophies

scholarly journals Molecular genetics of human retinal dystrophies

Eye ◽  
1998 ◽  
Vol 12 (3) ◽  
pp. 571-579 ◽  
Author(s):  
Chris F Inglehearn
Keyword(s):  
Molecular Genetics ◽  
Retinal Dystrophies

scholarly journals FOXG1-Related Syndrome: From Clinical to Molecular Genetics and Pathogenic Mechanisms

2019 ◽  
Vol 20 (17) ◽  
pp. 4176 ◽  
Author(s):  
Lee-Chin Wong ◽  
Shekhar Singh ◽  
Hsin-Pei Wang ◽  
Chia-Jui Hsu ◽  
Su-Ching Hu ◽  
...  
Keyword(s):  
Molecular Genetics ◽  
Clinical Features ◽  
Neural Plasticity ◽  
Brain Magnetic Resonance Imaging ◽  
Cortical Layer ◽  
Normal Brain ◽  
Cerebral Malformation ◽  
Forkhead Box ◽  
Mature Neurons ◽  
The Brain

Individuals with mutations in forkhead box G1 (FOXG1) belong to a distinct clinical entity, termed “FOXG1-related encephalopathy”. There are two clinical phenotypes/syndromes identified in FOXG1-related encephalopathy, duplications and deletions/intragenic mutations. In children with deletions or intragenic mutations of FOXG1, the recognized clinical features include microcephaly, developmental delay, severe cognitive disabilities, early-onset dyskinesia and hyperkinetic movements, stereotypies, epilepsy, and cerebral malformation. In contrast, children with duplications of FOXG1 are typically normocephalic and have normal brain magnetic resonance imaging. They also have different clinical characteristics in terms of epilepsy, movement disorders, and neurodevelopment compared with children with deletions or intragenic mutations. FOXG1 is a transcriptional factor. It is expressed mainly in the telencephalon and plays a pleiotropic role in the development of the brain. It is a key player in development and territorial specification of the anterior brain. In addition, it maintains the expansion of the neural proliferating pool, and also regulates the pace of neocortical neuronogenic progression. It also facilitates cortical layer and corpus callosum formation. Furthermore, it promotes dendrite elongation and maintains neural plasticity, including dendritic arborization and spine densities in mature neurons. In this review, we summarize the clinical features, molecular genetics, and possible pathogenesis of FOXG1-related syndrome.

MELAS: Clinical features, biochemistry, and molecular genetics

1992 ◽  
Vol 31 (4) ◽  
pp. 391-398 ◽  
Author(s):  
E. Ciafaloni ◽  
E. Ricci ◽  
S. Shanske ◽  
C. T. Moraes ◽  
G. Silvestri ◽  
...  
Keyword(s):  
Molecular Genetics ◽  
Clinical Features

scholarly journals The role of molecular genetics in the prenatal diagnosis of retinal dystrophies

Eye ◽  
1995 ◽  
Vol 9 (1) ◽  
pp. 24-28 ◽  
Author(s):  
K Evans ◽  
C Y Gregory ◽  
A Fryer ◽  
J Whittaker ◽  
J Duvall-Young ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Molecular Genetics ◽  
Retinal Dystrophies

P599: McArdle disease: clinical features, electrophysiological studies, muscle biopsy and molecular genetics

2014 ◽  
Vol 125 ◽  
pp. S211
Author(s):  
R. Scola ◽  
P. Lorenzoni ◽  
C. Kay ◽  
R. Arndt ◽  
C. Silvado ◽  
...  
Keyword(s):  
Molecular Genetics ◽  
Clinical Features ◽  
Muscle Biopsy ◽  
Mcardle Disease ◽  
Electrophysiological Studies

Clinical features and molecular genetics of two Tunisian families with abetalipoproteinemia

2014 ◽  
Vol 21 (2) ◽  
pp. 311-315 ◽  
Author(s):  
Monia Benhamed Hammer ◽  
Ghada El Euch-Fayache ◽  
Houda Nehdi ◽  
Moncef Feki ◽  
Wieme Maamouri-Hicheri ◽  
...  
Keyword(s):  
Molecular Genetics ◽  
Clinical Features
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