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Time 18:00
– 19:30 |
Date Sept
17th |
Poster session 2 In
addition to orals presented today the following poster only presentations are
scheduled for this session |
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Old Abstract # |
New Abstract # |
Presenter |
Title Presentation |
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77
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David Godler |
IMPROVED METHODOLOGY FOR ASSESSMENT OF mRNA
LEVELS IN BLOOD OF PATIENTS WITH FMR1 RELATED
DISORDERS |
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78
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Charles Louren¨o |
GENETIC SCREENING TO DETERMINE AN
ETIOLOGICAL DIAGNOSIS IN PATIENTS WITH MENTAL RETARDATION IN A SOUTHEAST
REGION OF BRAZIL |
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79
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Charles Schwartz |
TWO-PERCENT OF PATIENTS SUSPECTED OF HAVING ANGELMAN SYNDROME HAVE
TCF4 MUTATIONS |
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80
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Ilari Meloni |
MUTATIONS IN THE FOXG1 GENE CAUSE THE CONGENITAL VARIANT OF RETT
SYNDROME |
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81
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Pietro Chiurazzi |
A SPLICING MUTATION IN THE OPHN1 GENE CAUSES MENTAL RETARDATION
AND CEREBELLAR HYPOPLASIA IN A THREE GENERATION ITALIAN FAMILY |
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82
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Ted Brown |
Selective Identification of Lymphoblastoid Extracts from Fragile-X
or Control Subjects utilizing Monoclonal Antibodies to FMR1 (FMRP) |
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83
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Karen Usdin |
Different sides of the same coin? Repeat expansion and chromosome
fragility in Fragile X syndrome |
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84
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Montserrat Mila |
NO EVIDENCE FOR SKEWED X-CHROMOSOME INACTIVATION IN FRAGILE X SYNDROME
PREMUTATION CARRIERS |
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85
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Larissa Fontes |
DISTRIBUTION OF FMRP TO GRANULES IN HUMAN GRANULOSA CELLS UPON STRESS |
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86
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Stephanie Sherman |
Co-occurring diagnoses among FMR1 premutation allele carriers |
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87
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Marketa Havlovicova |
FMR1 Gene Expansion, Large Deletion of Xp and Skewed |
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88
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Andrea Schneider |
Prepulse Inhibition in Patients with FXTAS |
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89
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Ana
Krepischi |
2q24.2 microdeletions encompassing the SLC4A10 gene are associated with
idiopathic epilepsy and mental impairment |
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90
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Justin
Cowan |
ESTABLISHING
SYSTEMS FOR EVALUATING TREATMENT EFFECTS ON THE NEURONAL AND BEHAVIOURAL
PHENOTYPE OF FRAGILE X SYNDROME |
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