Phenotypic variability in patients with unique double homozygous mutations causing variant ataxia telangiectasia

2021 ◽  
Vol 32 ◽  
pp. 36-39
Author(s):  
Jacob Bistritzer ◽  
Analia Mijalovsky ◽  
Andreea Nissenkorn ◽  
Hagit Flusser ◽  
Jacov Levy ◽  
...  
Keyword(s):  
Ataxia Telangiectasia ◽  
Phenotypic Variability ◽  
Homozygous Mutations

Ataxia-telangiectasia

1966 ◽  
Vol 94 (2) ◽  
pp. 226a-227
Author(s):  
W. G. Larsen
Keyword(s):  
Ataxia Telangiectasia

Ataxia telangiectasia in dizygotic two year old twins

2011 ◽  
Vol 42 (S 01) ◽  
Author(s):  
M Henrich ◽  
S Lutz ◽  
M Busse ◽  
U Schara
Keyword(s):  
Ataxia Telangiectasia

Large phenotypic variability of diabetes due to ABCC8 gene mutation illustrated by the paradigm of a family

2019 ◽  
Author(s):  
Theocharis Koufakis ◽  
Amalia Sertedaki ◽  
Elizabeth-Barbara Tatsi ◽  
Christina-Maria Trakatelli ◽  
Spyridon Karras ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Phenotypic Variability ◽  
Abcc8 Gene

Twenty-five years of familial glucocorticoid deficiency: genotypic and phenotypic variability

2019 ◽  
Author(s):  
CJ Smith ◽  
AV Maharaj ◽  
R Prasad ◽  
C Hughes ◽  
Y Qamar ◽  
...  
Keyword(s):  
Phenotypic Variability ◽  
Glucocorticoid Deficiency

2118-P: Regulation of Ataxia-Telangiectasia and Rad3-Related (ATR)–Dependent DNA Damage Response by Nitric Oxide in ß-Cells

Diabetes ◽  
2020 ◽  
Vol 69 (Supplement 1) ◽  
pp. 2118-P
Author(s):  
CHAY TENG YEO ◽  
BRYNDON OLESON ◽  
JOHN A. CORBETT ◽  
JAMIE K. SCHNUCK
Keyword(s):  
Nitric Oxide ◽  
Dna Damage ◽  
Dna Damage Response ◽  
Ataxia Telangiectasia ◽  
Damage Response

Features of DNA repair in dermal fibroblasts in ataxia-telangiectasia patients with mosaic type of manifestation of active ATM kinase

2020 ◽  
Vol XV (1) ◽  
Author(s):  
M. Kuranova ◽  
A. Nozdracheva ◽  
R. Ushakov ◽  
T. Ledashcheva ◽  
L. Schugareva ◽  
...  
Keyword(s):  
Dna Repair ◽  
Ataxia Telangiectasia ◽  
Dermal Fibroblasts ◽  
Atm Kinase
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