scholarly journals VP16.12: When genetics doesn't explain everything: two pregnancies – the same genetic alteration and different clinical phenotypes

2021 ◽  
Vol 58 (S1) ◽  
pp. 166-166
Author(s):  
M.A. Santos
Keyword(s):  
Genetic Alteration ◽  
Clinical Phenotypes

Dominant negative CaSR mutants: Biochemical function, inheritance and clinical phenotypes

2015 ◽  
Vol 122 (03) ◽  
Author(s):  
S Letz ◽  
M Gllaudo ◽  
M Quinkler ◽  
U Bogner ◽  
C Haag ◽  
...  
Keyword(s):  
Dominant Negative ◽  
Clinical Phenotypes ◽  
Biochemical Function

Vestibular Schwannoma Clinical Phenotypes Are Associated with Differential Methylation Patterns

2020 ◽  
Author(s):  
Avital Perry ◽  
Christopher S. Graffeo ◽  
Lucas P. Carlstrom ◽  
Amanda Munoz Casabella ◽  
Matthew L. Carlson ◽  
...  
Keyword(s):  
Vestibular Schwannoma ◽  
Differential Methylation ◽  
Clinical Phenotypes ◽  
Methylation Patterns

Frequency of common genetic forms of frontotemporal dementia in a Russian cohort of patients

2020 ◽  
pp. 30-32
Author(s):  
Ю.А. Шпилюкова ◽  
Е.Ю. Федотова ◽  
Н.Ю. Абрамычева ◽  
С.Н. Иллариошкин
Keyword(s):  
Frontotemporal Dementia ◽  
Clinical Phenotypes ◽  
Mapt Gene ◽  
First Time

Впервые в российской популяции на когорте пациентов с клиническим диагнозом ЛВД исследована частота встречаемости мутаций в наиболее частых генах, ассоциированных с данным заболеванием. Наибольшая часто мутирующими являются гены C9orf72 и GRN. Реже всего встречаются мутации в гене MAPT, что возможно связано с неравномерным представительством клинических фенотипов в нашей выборке. For the first time in the Russian cohort of FTD patients the frequency of mutations in the most common genes associated with this disease was studied. The most frequently mutating are the genes C9orf72 and GRN. Mutations in the MAPT gene are least likely to occur, which is probably due to the uneven representation of clinical phenotypes in our sample.

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