scholarly journals MosaicFMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: A case report and review of the literature

2008 ◽  
Vol 146A (10) ◽  
pp. 1358-1367 ◽  
Author(s):  
Bradford Coffee ◽  
Morna Ikeda ◽  
Dejan B. Budimirovic ◽  
Lawrence N. Hjelm ◽  
Walter E. Kaufmann ◽  
...  
Keyword(s):  
Case Report ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Review Of The Literature

Down Syndrome and Fragile X Syndrome in a Colombian Woman: Case Report

2016 ◽  
Vol 30 (5) ◽  
pp. 970-974 ◽  
Author(s):  
Wilmar Saldarriaga ◽  
Fabian Andres Ruiz ◽  
Flora Tassone ◽  
Randi Hagerman
Keyword(s):  
Down Syndrome ◽  
Case Report ◽  
Fragile X Syndrome ◽  
Fragile X

scholarly journals Haemodynamic management using non-invasive cardiac output monitoring for urgent craniotomy in fragile X syndrome: Case report

2016 ◽  
Vol 44 (1) ◽  
pp. 48-51
Author(s):  
Rosana Guerrero-Domínguez ◽  
Daniel López-Herrera-Rodríguez ◽  
Francisco Javier Beato-López ◽  
Ignacio Jiménez
Keyword(s):  
Cardiac Output ◽  
Case Report ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Cardiac Output Monitoring ◽  
Non Invasive ◽  
Output Monitoring

scholarly journals Fragile X Syndrome: case report in two brothers

1997 ◽  
Vol 73 (6) ◽  
Author(s):  
Adriana M. Modesto ◽  
Maria de Fatima M. Aguiar ◽  
Hamilton Barbosa ◽  
Suzete S. Leme Vilela ◽  
Mara Santos ◽  
...  
Keyword(s):  
Case Report ◽  
Fragile X Syndrome ◽  
Fragile X

scholarly journals Fragile X Syndrome in Korea: A Case Series and a Review of the Literature

2008 ◽  
Vol 23 (3) ◽  
pp. 470 ◽  
Author(s):  
Shin-Young Yim ◽  
Bo Hyun Jeon ◽  
Jung A Yang ◽  
Hyon J. Kim
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X ◽  
Case Series ◽  
Review Of The Literature

Early development in males with Fragile X syndrome: A review of the literature

2002 ◽  
Vol 57 (3) ◽  
pp. 174-178 ◽  
Author(s):  
Alice S.M. Kau ◽  
Walter A. Meyer ◽  
Walter E. Kaufmann
Keyword(s):  
Fragile X Syndrome ◽  
Early Development ◽  
Fragile X ◽  
Review Of The Literature

Treating Fragile X syndrome with the diuretic bumetanide: a case report

2013 ◽  
Vol 102 (6) ◽  
pp. e288-e290 ◽  
Author(s):  
Eric Lemonnier ◽  
Gaëlle Robin ◽  
Céline Degrez ◽  
Roman Tyzio ◽  
Marine Grandgeorge ◽  
...  
Keyword(s):  
Case Report ◽  
Fragile X Syndrome ◽  
Fragile X

Neuropsychological and psychosocial effects of the FMR-1 full mutation: Case report of monozygotic twins discordant for the fragile X syndrome.

1995 ◽  
Vol 9 (4) ◽  
pp. 470-480 ◽  
Author(s):  
Michèle M. M. Mazzocco ◽  
Lisa S. Freund ◽  
Thomas L. Baumgardner ◽  
Lisa Forman ◽  
et al
Keyword(s):  
Case Report ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Monozygotic Twins ◽  
Full Mutation ◽  
Psychosocial Effects
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