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Time 17:00
– 18:30 |
Date Sept
18th |
Poster
session 3 In addition to orals presented today the following
poster only presentations are scheduled for this session |
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Old Abstract # |
New Abstract # |
Presenter |
Title
Presentation |
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91
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Marketa Havlovicova |
FMR1 Gene Expansion, Large Deletion of Xp and X-inactivation in a Girl with
Mental Retardation and Autism |
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92
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Charles Loureno |
FRAGILE X SCREENING FOR FRAXA AND FRAXE
MUTATIONS USING PCR BASED STUDIES AMONG MALES WITH MILD/MODERATE MENTAL
RETARDATION OF UNKNOWN ORIGIN: A BRAZILIAN EXPERIENCE OF COMMUNITY GENETICS |
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93
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Charles Loureno |
IN THE HEART OF BRAZIL: CLINICAL
EVALUATION AND ETIOLOGICAL CHARACTERIZATION OF MENTALLY RETARDED
SEMI-INSTITUTIONALIZED PATIENTS IN CENTRAL-WESTERN OF BRAZIL |
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94
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Katrin Mnnik |
GENOMIC ABERRATIONS IN RELATION TO
UNEXPLAINED MENTAL RETARDATION IN ESTONIAN PATIENTS |
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95
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Irene Madrigal |
INVOLVEMENT OF 15q11.2 REARRANGEMENTS IN
MENTAL RETARDATION |
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96
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Juliana Mazzeu |
THE ORIGIN OF TRISOMY 21 IN THE OFFSPRING OF FMR1 PREMUTATION CARRIERS |
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97
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Marcela Gomez |
STUDY OF 5'UTR OF THE FMR-1 GENE IN MEN FROM SALVADOR, BAHIA,
BRAZIL |
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98
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Danilo Moretti- Ferreira |
COGNITIVE AND LANGUAGE PROFILE OF FEMALES WITH FRAGILE-X
PREMUTATION |
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99
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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 |
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100
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Ingrid Barbato |
Effect of an amino acid pool on Fragile X Syndrome carriers:
clinical and neurochemical preclinical study |
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101
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Rita Alves |
FRAGILE-X SYNDROME: FRAGILITY IN GUARANTEEING HUMAN RIGHTS |
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102
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Luciana Haddad |
Exon 12 of Fragile Mental Retardation 1 rat ortholog is expressed
in mature, cytoplasmic FMRP isoforms in rat cerebral neurons |
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103
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Eiji Nanba |
FRAgile X TESTING and CARRIER SCREENING in
JAPAN |
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104
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Peter
Pearson |
Intrafamilial association analyses as an efficient ALTERNATIVE for
population association studies TO MAP DISEASE GENES – a POOR manŐs
aNSWER to expensive science |
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105
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Irmgard Martens |
FRAGILE X SYNDROME: A SIMPLE MOLECULAR DIAGNOSIS BY MEANS OF A
TRIPLE METHYLATED SPECIFIC PCR ASSAY |
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106
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Flora
Tassone |
NOVEL PCR REAGENTS THAT
REPRODUCIBLY AMPLIFY FMR1 EXPANDED ALLELES IN MALES AND FEMALES |
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