|
Time 18:00 – 19:30 |
Date Sept 16th |
Poster session 1 In addition to orals presented today the following poster
only presentations are scheduled for this session |
|
|
|
|
|
|
|
Old Abstract # |
New Abstract # |
Presenter |
Title Presentation |
|
61
|
Kimia Kahrizi
|
A NOVEL AUTOSOMAL RECESSIVE SYNDROME OF
MENTAL RETARDATION, KYPHOSCOLIOSIS AND HEART DEFECTS MAPS TO CHROMOSOME
REGION 11q14-q23 |
|
|
62
|
Hans-Hilger Roper |
ZC3H14 Mutations Cosegregate with Non-Syndromic
Autosomal Recessive Mental Retardation (NS-ARMR) in Two Iranian families |
|
|
63
|
Charles
Lourenco |
GENETIC ̉METABOLICÓ EVALUATION OF
INTELLECTUAL DISABILITY: INVESTIGATING INBORN ERRORS OF METABOLISM AS CAUSE
OF MENTAL RETARDATION |
|
|
64
|
Merel Oortveld |
MODELLING
MENTAL RETARDATION IN FLIES: DISSECTING MOLECULAR NETWORKS UNDERLYING COGNITIVE
FUNCTION |
|
|
65
|
Temis
Felix |
Screening for Fragile X syndrome in A mentalLY
retardED POPULATION |
|
|
66
|
Ilaria Meloni |
THE
XLMR GENE ACSL4 PLAYS A ROLE IN DENDRITIC SPINE ARCHITECTURE |
|
|
67
|
Magdalena Nawara
|
MICROdeletion at Xq21 in a patient with nonsyndromic
mental retardation validates the novel XLMR gene ZNF711 |
|
|
68
|
Cintia
Santos- Reboucas |
A
NOVEL NONSENSE MUTATION IN JARID1C
GENE IN A BRAZILIAN MENTAL HANDICAPPED MALE |
|
|
69
|
Yu-ichi Goto |
MOLECULAR
GENETIC ANLYSIS OF MENTAL RETARDATION IN JAPANESE COHORT |
|
|
70
|
Alzenira
Costa |
CGG
REPEAT NUMBER AT THE FRAXA AND FRAXE LOCI DOES NOT SEEM TO BE INVOLVED IN
PARKINSON DISEASE |
|
|
71
|
Paula
Jorge |
FRAGILE-X
PORTUGUESE PATIENTS: A COMMON ANCESTOR |
|
|
72
|
Charles
Schwartz |
MUTATIONS
IN MBTPS2 (A ZINC METALLOPROTEASE) RESULTS IN IFAP (ICHTHYOSIS FOLLICULARIS
WITH ATRICHIA AND PHOTOPHOBIA) SYNDROME |
|
|
73
|
Debora
Rodrigueiro |
CLINICAL
INSIGHTS FROM A LARGE BRAZILIAN FRAGILE X FAMILY |
|
|
74
|
Jenneke vd Ende |
DUPLICATION Xq25-27.1 IN A GIRL WITH
SHORT STATURE AND DYSMORPHIC FEATURES : EMERGING
PHENOTYPES OF CRYPTIC DISTAL Xq DUPLICATIONS |
|
|
75
|
Flora Tassone |
DYSFUNCTION
OF PROTEIN SYNTHESIS MEDIATED BY mTOR-DEPENDENT
SIGNALING IN FRAGILE X SYNDROME |
|
|
76
|
Carla Rosenberg |
IS THE EXCESS OF MALE MENTAL RETARDATION CAUSED BY FUNCTIONAL
AND STRUCTURAL PECULIARITIES OF THE X CHROMOSOME |
|
|
|
|
|
|