Dystonia in a female fragile X premutation carrier: a case report

2021 ◽  
Author(s):  
Victoria Ros‐Castelló ◽  
Anna Latorre ◽  
Juan Álvarez‐Linera ◽  
Juan C. Martinez‐Castrillo ◽  
Kailash P. Bhatia ◽  
...  
Keyword(s):  
Case Report ◽  
Fragile X ◽  
Premutation Carrier ◽  
Fragile X Premutation

scholarly journals X-inactivation in the clinical phenotype of fragile X premutation carrier sisters

2016 ◽  
Vol 2 (1) ◽  
pp. e45 ◽  
Author(s):  
Deborah A. Hall ◽  
Erin E. Robertson-Dick ◽  
Joan A. O'Keefe ◽  
Andrew G. Hadd ◽  
Lili Zhou ◽  
...  
Keyword(s):  
Clinical Phenotype ◽  
Fragile X ◽  
X Inactivation ◽  
Premutation Carrier ◽  
Fragile X Premutation

Tissue-specific methylation differences in a fragile X premutation carrier

1999 ◽  
Vol 55 (5) ◽  
pp. 346-352 ◽  
Author(s):  
Flora Tassone ◽  
John Longshore ◽  
Janice Zunich ◽  
Peter Steinbach ◽  
Ulrike Salat ◽  
...  
Keyword(s):  
Fragile X ◽  
Tissue Specific ◽  
Premutation Carrier ◽  
Fragile X Premutation

scholarly journals FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome

2014 ◽  
Vol 2 (1) ◽  
Author(s):  
Ronald AM Buijsen ◽  
Chantal Sellier ◽  
Lies-Anne WFM Severijnen ◽  
Mustapha Oulad-Abdelghani ◽  
Rob FM Verhagen ◽  
...  
Keyword(s):  
Fragile X ◽  
Premutation Carrier ◽  
Fragile X Premutation ◽  
Ataxia Syndrome

Fatigue and body mass index in the Fragile X premutation carrier

2014 ◽  
Vol 2 (2) ◽  
pp. 64-72 ◽  
Author(s):  
Scott M. Summers ◽  
Jennifer Cogswell ◽  
John E. Goodrich ◽  
Yi Mu ◽  
Danh V. Nguyen ◽  
...  
Keyword(s):  
Body Mass Index ◽  
Body Mass ◽  
Fragile X ◽  
Premutation Carrier ◽  
Fragile X Premutation

Emotional Reaction to Fragile X Premutation Carrier Tests Among Infertile Women

2007 ◽  
Vol 17 (1) ◽  
pp. 84-91 ◽  
Author(s):  
Lisa M. Pastore ◽  
Wendy L. Morris ◽  
Logan B. Karns
Keyword(s):  
Fragile X ◽  
Emotional Reaction ◽  
Premutation Carrier ◽  
Infertile Women ◽  
Fragile X Premutation

Fragile X Premutation Carrier Epidemiology and Symptomatology in Israel—Results from a Tertiary Child Developmental Center

2016 ◽  
Vol 15 (5) ◽  
pp. 595-598 ◽  
Author(s):  
Lidia V. Gabis ◽  
Noah Gruber ◽  
Michal Berkenstadt ◽  
Shahar Shefer ◽  
Odelia Leon Attia ◽  
...  
Keyword(s):  
Fragile X ◽  
Premutation Carrier ◽  
Fragile X Premutation
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