|
Old abstract number |
New abstract number |
Session number |
View abstract |
Presenting Author |
Abstract title |
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41 |
39 |
9 |
David Godler |
Novel epigenetic markers of the Fragile X alleles |
|
|
42 |
27 |
7 |
Danuta Loesch |
The role of premutation
and grey zone FMR1 alleles in the origin of parkinsonism |
|
|
43 |
81 |
P3 |
Marcela Gomez |
STUDY OF 5'UTR OF THE FMR-1 GENE IN MEN FROM SALVADOR, BAHIA, BRAZIL |
|
|
44 |
82 |
P3 |
Danilo Moretti-Ferreira |
COGNITIVE AND LANGUAGE PROFILE OF FEMALES WITH FRAGILE-X PREMUTATION |
|
|
45 |
83 |
P2 |
Marketa Havlovicova |
FMR1 Gene Expansion, Large
Deletion of Xp and Skewed |
|
|
46 |
51 |
13 |
Laia Rodrguez-Revenga |
PENETRANCE OF FMR1 PREMUTATION ASSOCIATED PATHOLOGIES IN FRAGILE-X SYNDROME FAMILIES |
|
|
47 |
84 |
P1 |
Temis Felix |
Screening for Fragile X
syndrome in A mentalLY retardED POPULATION |
|
|
48 |
29 |
8 |
Emily Allen |
Verbal
intelligence quotient (VIQ) is associated with FMR1 repeat size and
reproductive cycling characteristics in women |
|
|
49 |
26 |
7 |
Jim Grigsby |
MRI Anomalies among Asymptomatic Male Carriers of
the Fragile X Premutation |
|
|
50 |
47 |
12 |
Eiko de Jong |
USING DROSOPHILA TO SYSTEMATICALLY STUDY THE
ROLE OF ALL MENTAL RETARDATION GENES IN SYNAPTIC DEVELOPMENT |
|
|
51 |
2 |
2 |
Guy Froyen |
A NOVEL RECURRENT COPY
NUMBER GAIN AT Xq28 IN FOUR MR FAMILIES REVEALS A DOSAGE-DEPENDENT SEVERITY
OF THE PHENOTYPE AND SUGGESTS A NOVEL RECOMBINATION MECHANISM |
|
|
52 |
5 |
2 |
Jozef Gecz |
UNDERSTANDING THE MOLECULAR PATHOLOGY OF UPF3B
MUTATIONS |
|
|
53 |
85 |
P1 |
Ilaria meloni |
THE XLMR GENE ACSL4 PLAYS A ROLE IN DENDRITIC SPINE ARCHITECTURE |
|
|
54 |
86 |
P1 |
Magadela Nawara |
MICROdeletion
at xq21 in a patient with nonsyndromic mental
retardation validates the novel XLMR gene
ZNF711 |
|
|
55 |
53 |
13
|
Philippos Patsalis |
SCREENING OF A COHORT OF
100 MALE XLMR PATIENTS USING A NEW FULL COVERAGE CHROMOSOME X EXON-SPECIFIC
ARRAY |
|
|
56 |
87 |
P3 |
Isabel Tejada |
FAMILIAL Xp22 MICRODUPLICATION (INCLUDING THE
RPS6KA3/RSK2 GENE) STUDIED IN THREE GENERATIONS OF A FAMILY AND CAUSING A
BORDERLINE TO MILD NON-SYNDROMIC MENTAL RETARDATION |
|
|
57 |
88 |
P1 |
Cintia Santos-Reboucas |
A NOVEL NONSENSE MUTATION
IN JARID1C GENE IN A BRAZILIAN MENTAL HANDICAPPED MALE |
|
|
58 |
89 |
P1 |
Yu-ichi Goto |
MOLECULAR
GENETIC ANLYSIS OF MENTAL RETARDATION IN JAPANESE COHORT |
|
|
59 |
58 |
14 |
Anna Hackett |
CASK MUTATIONS CAUSE
X-LINKED NYSTAGMUS AND VARIABLE XLMR PHENOTYPES |
|
|
60 |
36 |
9 |
Louise Gane |
Fragile X Newborn Screening in the Clinical Setting |