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Old abstract number |
New abstract number |
Session number
|
View abstract |
Presenting Author |
Abstract title |
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61
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52 |
13 |
Lucy Raymond |
A SYSTEMATIC,
LARGE-SCALE RESEQUENCING AND COPY NUMBER VARIANT SCREEN OF THE X CHROMOSOME
CODING EXONS IN MENTAL RETARDATION |
|
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62
|
|
P1 |
Alzenira Costa |
CGG REPEAT NUMBER AT THE FRAXA AND FRAXE LOCI
DOES NOT SEEM TO BE INVOLVED IN PARKINSON DISEASE |
|
|
63
|
|
P3 |
Ingrid Barbato |
Effect
of an amino acid pool on Fragile X
Syndrome carriers: clinical and neurochemical preclinical study |
|
|
64
|
38 |
9 |
Natalie Marlowe |
DEVELOPMENT OF A HIGH-THROUGHPUT ASSAY FOR DETECTING FRAGILE X EXPANDED ALELLES |
|
|
65
|
|
P2 |
Andrea Schneider |
Prepulse Inhibition in
Patients with FXTAS |
|
|
66
|
|
P1 |
Paula Jorge |
|
|
|
67
|
|
P3 |
Rita Alves |
FRAGILE-X SYNDROME: FRAGILITY IN GUARANTEEING HUMAN RIGHTS
|
|
|
68
|
|
2 |
Hilde Van Esche |
THE MECP2 DUPLICATION SYNDROME: WHATÕS NEW? |
|
|
69
|
24 |
7 |
David Hessl |
ANXIETY IN FRAGILE X SYNDROME: CLINICAL ASSESSMENT,
CHARACTERIZATION AND PREVALENCE |
|
|
70
|
19 |
5 |
Frank Kooy |
The
GABA(A) receptor as a potential target for therapy
of the fragile X syndrome |
|
|
71
|
|
2 |
Marijke Bauters |
X-linked mental retardation
and epigenetics |
|
|
72
|
46 |
12 |
Jamie Kramer |
Cooperative control of dendritic development by chromatin modifying mental retardation genes |
|
|
73
|
17 |
4 |
Samuel Seguin |
FRAGILE X MENTAL RETARDATION PROTEIN AND mRNA AT SYNAPSE |
|
|
74
|
37 |
9 |
Debra Skinner |
PARENTAL DECISIONS FOR ACCEPTING OR DECLINING
NEWBORN SCREENING FOR FRAGILE X: ANTHROPOLOGICAL PERSPECTIVES ON GENETIC RESPONSIBILITY |
|
|
75
|
42 |
10 |
Edmund Jenkins |
SHORTER TELOMERES IN
YOUNGER MALE INDIVIDUALS WITH THE FRAGILE X PREMUTATION |
|
|
76
|
|
P3 |
Luciana Haddad |
Exon 12 of Fragile Mental Retardation 1 rat ortholog is expressed in mature, cytoplasmic FMRP isoforms in rat cerebral neurons |
|
|
77
|
16 |
4 |
Barbara Bardoni |
A NOVEL
FUNCTION OF FRAGILE X MENTAL RETARDATION PROTEIN IN TRANSLATIONAL ACTIVATION |
|
|
78
|
|
P1 |
Charles Schwartz |
MUTATIONS IN MBTPS2
(A ZINC METALLOPROTEASE) RESULTS IN IFAP (ICHTHYOSIS FOLLICULARIS WITH
ATRICHIA AND PHOTOPHOBIA) SYNDROME |
|
|
79
|
49 |
13 |
Vera Kalscheuer |
TOWARDS UNDERSTANDING THE PATHOGENETIC MECHANISM OF PQBP1 MUTATIONS IN X-LINKED MENTAL RETARDATION |
|
|
80
|
50 |
13 |
Rafaella Nascimento |
FUNCTIONAL
ANALYSIS OF UBE2A C.382C-T MUTATION:
INSIGHT INTO THE MECHANISMS LEADING TO MENTAL RETARDATION |