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Old abstract number |
New abstract number |
Session number
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View abstract |
Presenting Author |
Abstract title |
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21
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P2 |
Charles
E. Schwartz |
TWO-PERCENT OF PATIENTS SUSPECTED OF HAVING
ANGELMAN SYNDROME HAVE TCF4
MUTATIONS |
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22
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P2 |
Ilari Meloni |
MUTATIONS IN THE FOXG1 GENE CAUSE THE CONGENITAL VARIANT OF RETT SYNDROME |
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23
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P2 |
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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24
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34
|
9 |
W. Ted Brown |
Fragile X
Prenatal Studies: Molecular
Analyses of 890 pregnancies |
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25
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|
P2 |
W. Ted Brown |
Selective Identification of
Lymphoblastoid Extracts from Fragile-X or Control Subjects utilizing
Monoclonal Antibodies to FMR1 (FMRP) |
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26
|
60
|
14 |
Jozef Gecz |
MUTATIONS IN IQSEC2,
A GUANINE NUCLEOTIDE EXCHANGE FACTOR FOR ARF6, CAUSE NON-SYNDROMIC MENTAL
RETARDATION |
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27
|
|
P3 |
Juliana Mazzeu |
THE ORIGIN OF TRISOMY 21
IN THE OFFSPRING OF FMR1
PREMUTATION CARRIERS |
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28
|
|
P1 |
Merel Oortveld |
MODELLING MENTAL RETARDATION IN FLIES: DISSECTING MOLECULAR NETWORKS
UNDERLYING COGNITIVE FUNCTION |
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29
|
25
|
7 |
Randi Hagerman |
Psychopathology in Premutation Carriers: Should
this be added to Fragile X-associated Disorders? |
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30
|
|
P2 |
Karen Usdin |
Different sides of the same coin? Repeat expansion and chromosome fragility in Fragile X syndrome |
|
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31
|
|
5 |
Karen Usdin |
Insight into Oocytes: the ovaries of Fragile X premutation mice |
|
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32
|
7
|
3 |
Wei Chen |
Chromosome sorting and next generation sequencing in consanguineous families with autosomal recessive mental retardation: separating the wheat from the chaff |
|
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33
|
40
|
10 |
Pietro Chiurazzi |
ANALYSIS OF THE EXPRESSION PROFILE OF mRNAs AND microRNAs IN FRAGILE X SYNDROME |
|
|
34
|
54
|
13 |
Pietro Chiurazzi |
CATALOGUE OF XLMR CONDITIONS (UPDATE 2009)
AND
TRANSCRIPTIONAL PROFILE OF XLMR GENES IN HUMAN TISSUES |
|
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35
|
23
|
7 |
Claudia Greco |
NEUROPATHOLOGICAL ANALYSIS OF FOUR FRAGILE X
SYNDROME (FXS) AUTOPSY BRAINS |
|
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36
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20
|
5 |
Augustini Utari |
TIME FOR A CONTROLLED TRIAL OF MINOCYCLINE FOR FRAGILE X SYNDROME |
|
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37
|
33
|
8 |
Weerasak Chonchaiya |
TOTAL CLINICAL ASCERTAINMENT OF DAUGHTERS WHO HAVE FATHERS WITH FRAGILE X ASSOCIATED TREMOR ATAXIA SYNDROME |
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38
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|
P2 |
Montserrat Mila |
NO EVIDENCE FOR SKEWED X-CHROMOSOME INACTIVATION
IN FRAGILE X SYNDROME PREMUTATION CARRIERS |
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39
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|
P2 |
Larissa Fontes |
DISTRIBUTION OF FMRP TO GRANULES IN HUMAN
GRANULOSA CELLS UPON STRESS |
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40
|
|
P2 |
Stephanie Sherman |
Co-occurring diagnoses
among FMR1 premutation allele
carriers |