Live Birth of a Healthy Child in a Couple with Identical mtDNA Carrying a Pathogenic c.471_477delTTTAAAAinsG Variant in the MOCS2 Gene
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Job-related spatial mobility is a subject of great importance in Europe. But how mobile are the Europeans? What are the consequences of professional mobility for quality of life, family life and social relationships? For the first time these questions are ...
The current thesis constitutes an interdisciplinary approach of detecting a selection pressure driven by the environment examining the contribution of Remote Sensing and Spatial Analysis in the field of Landscape Genetics. Even though several studies have ...
Objectives and Methods: To investigate the impact of prenatal diagnosis on trisomy 2 1 live births, we collected all prenatal and postnatal trisomy 2 1 cases (n = 1096) in the eastern half of Switzerland for the years 1980-1996. Results: Despite increasing ...
The G2019S mutation in the leucine-rich repeat kinase 2 (LRRK2) gene is the most common genetic cause of Parkinson's disease (PD), accounting for a significant proportion of both autosomal dominant familial and sporadic PD cases. Our aim in the present stu ...
Highly quantitative biomarkers of neurodegenerative disease remain an important need in the urgent quest for disease-modifying therapies. For Huntington's disease (HD), a genetic test is available (trait marker), but necessary state markers are still in de ...
Velo-cardio-facial syndrome (VCFS), also known as 22q11.2 deletion syndrome, is a common genetic condition associated with increased risk for developing schizophrenia. Given that cortical malformations play an integral role in the pattern of neuroanatomica ...
SHFM3 is a limb malformation characterized by the absence of central digits. It has been shown that this condition is associated with tandem duplications of about 500 kb at 10q24. The Dactylaplasia mice display equivalent limb defects and the two correspon ...