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

 

 

 

 

Old Abstract #

New Abstract #

Presenter

Title Presentation

1

77

David Godler

IMPROVED METHODOLOGY FOR ASSESSMENT OF mRNA LEVELS IN BLOOD OF PATIENTS

 WITH FMR1 RELATED DISORDERS

5

78

Charles Louren¨o

GENETIC SCREENING TO DETERMINE AN ETIOLOGICAL DIAGNOSIS IN PATIENTS WITH MENTAL RETARDATION IN A SOUTHEAST REGION OF BRAZIL

21

79

Charles Schwartz

TWO-PERCENT OF PATIENTS SUSPECTED OF HAVING ANGELMAN SYNDROME HAVE TCF4 MUTATIONS

22

80

Ilari Meloni

MUTATIONS IN THE FOXG1 GENE CAUSE THE CONGENITAL VARIANT OF RETT SYNDROME

23

81

Pietro Chiurazzi

A SPLICING MUTATION IN THE OPHN1 GENE CAUSES MENTAL RETARDATION AND CEREBELLAR HYPOPLASIA IN A THREE GENERATION ITALIAN FAMILY

25

82

Ted Brown

Selective Identification of Lymphoblastoid Extracts from Fragile-X or Control Subjects utilizing Monoclonal Antibodies to FMR1 (FMRP)

30

83

Karen Usdin

Different sides of the same coin? Repeat expansion and chromosome fragility in Fragile X syndrome

38

84

Montserrat Mila

NO EVIDENCE FOR SKEWED X-CHROMOSOME INACTIVATION IN FRAGILE X SYNDROME PREMUTATION CARRIERS

39

85

Larissa Fontes

DISTRIBUTION OF FMRP TO GRANULES IN HUMAN GRANULOSA CELLS UPON STRESS

40

86

Stephanie Sherman

Co-occurring diagnoses among FMR1 premutation allele carriers

45

87

Marketa Havlovicova

FMR1 Gene Expansion, Large Deletion of Xp and Skewed
X-inactivation in a Girl with Mental Retardation and Autism

65

88

Andrea Schneider

Prepulse Inhibition in Patients with FXTAS

105

89

Ana Krepischi

2q24.2 microdeletions encompassing the SLC4A10 gene are associated with idiopathic epilepsy and mental impairment

101

90

Justin Cowan

ESTABLISHING SYSTEMS FOR EVALUATING TREATMENT EFFECTS ON THE NEURONAL AND BEHAVIOURAL PHENOTYPE OF FRAGILE X SYNDROME