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Old abstract number |
New abstract number |
Session number |
View abstract |
Presenting Author |
Abstract title |
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81 |
35
|
9
|
Flora Tassone |
NEWBORN
SCREENING IN FRAGILE X SYNDROME: A PILOT STUDY |
|
|
82 |
97 |
P1 |
Debora Rodrigueiro |
CLINICAL INSIGHTS FROM A
LARGE BRAZILIAN FRAGILE X FAMILY |
|
|
83 |
21 |
5 |
Annette Schenck |
Large-scale approaches to dissect
molecular mechanisms and networks disrupted in Mental Retardation |
|
|
84 |
1 |
1 |
Ype Elgersma |
MOLECULAR
MECHANISMS UNDERLYING MENTAL RETARDATION DISORDERS |
|
|
85 |
12 |
3 |
Janneke Schuurs-Hoeijmakers |
GENES FOR AUTOSOMAL RECESSIVE MENTAL RETARDATION
IN OUTBRED FAMILIES |
|
|
86 |
4 |
2 |
Patrizia DŐAdamo |
MUTATIONS
IN HUMAN RAB39B GENE ARE RESPONSIBLE FOR X-LINKED NON-SPECIFIC MENTAL
RETARDATION |
|
|
87 |
45 |
12 |
Daniela Toniolo |
GDI1 KO MICE SHOW A PRESYNAPTIC DEFICIT AT
CORTICO-LATERAL AMYGDALA SYNAPSES |
|
|
88 |
56 |
14 |
Zafar Iqbal |
IDENTIFICATION OF NOVEL GENES FOR AUTOSOMAL
RECESSIVE MENTAL RETARDATION IN THE PAKISTANI POPULATION |
|
|
89 |
57 |
14 |
Christiane Zweier |
Autosomal recessive, severe mental retardation resembling Pitt-Hopkins syndrome is caused by defects in two novel genes targeting a common synaptic protein in Drosophila |
|
|
90 |
43 |
11 |
Stephen Tapscott |
Micro and macrosatellite repeats in human disease: Similar features and distinct mechanisms |
|
|
91 |
51
|
13
|
Angela Morgante |
EVALUATING THE CONTRIBUTION OF X-CHROMOSOME
MUTATIONS TO MENTAL RETARDATION BASED ON THE PATTERN OF X INACTIVATION IN
MOTHERS OF AFFECTED BOYS |
|
|
92 |
31
|
8
|
Don Bailey |
FROM
PHENOTYPES TO FAMILIES: FINDINGS FROM THE NATIONAL (U.S.) FRAGILE X FAMILY
SURVEY |
|
|
93 |
98 |
P3 |
Eiji Nanba |
FRAGILE X TESTING AND CARRIER SCREENING IN JAPAN |
|
|
94 |
99 |
P1 |
Jenneke vd Ende |
DUPLICATION Xq25-27.1 IN A GIRL WITH SHORT
STATURE AND DYSMORPHIC FEATURES : EMERGING PHENOTYPES OF CRYPTIC DISTAL Xq
DUPLICATIONS |
|
|
95 |
13 |
4 |
Isaac Pessah |
Early Abnormal Growth and Synaptic Architecture in Hippocampal Neurons from Fragile X Premutation Mouse |
|
|
96 |
28
|
8
|
Peter Pearson |
Familial genetic predisposition to menopausal age is a much MORE POTENT Contributant TO FXPOI (POF) than the FMR1 PREMUTATION |
|
|
97 |
100 |
P3 |
Peter Pearson |
Intrafamilial association analyses as an efficient ALTERNATIVE for population association studies TO MAP DISEASE GENES – a POOR manŐs aNSWER to expensive science |
|
|
98 |
22 |
6 |
Paul Hagerman |
FXTAS - RECENT DEVELOPMENTS |
|
|
99 |
101 |
P3 |
Irmgard Martens |
FRAGILE X SYNDROME: A SIMPLE MOLECULAR DIAGNOSIS BY MEANS OF A TRIPLE METHYLATED SPECIFIC PCR ASSAY |
|
|
100 |
41 |
10 |
Patricia |
ROLE OF THE FRAGILE X MENTAL RETARDATION PROTEIN AND BRN-3 DURING NEURONAL MORPHOGENESIS IN THE HABENULO-INTERPEDUNCULAR CIRCUIT IN FRAGILE X SYNDROME MODELS |