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Session 14 |
Date Sept 18th |
Chairman: Bert de Vries |
Title Session MR – Gene identification |
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Time |
Old Abstract # |
New abstract # |
Presenter |
Title
Presentation |
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14:40 – 15:00 |
55 |
Bert de Vries |
Identifying
novel microdeletion mental retardation syndromes and candidate regions for
autosomal mental retardation |
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15:00 – 15:20 |
56 |
Zafar Iqbar |
IDENTIFICATION OF
NOVEL GENES FOR AUTOSOMAL RECESSIVE MENTAL RETARDATION IN PAKISTANI
POPULATION |
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15:20 – 15:40 |
57 |
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 |
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15:40 – 16:00 |
58 |
Anna Hackett |
CASK MUTATIONS CAUSE X-LINKED NYSTAGMUS AND
VARIABLE XLMR PHENOTYPES |
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16:00 – 16:20 |
59 |
Hans-Hilger Ropers |
LOSS OF THE KINETOCHORE PROTEIN BOD1 LEADS TO MENTAL
RETARDATION AND OVARIAN FAILURE |
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16:20 – 16:40 |
60 |
Jozef Gecz |
MUTATIONS
IN IQSEC2, A GUANINE NUCLEOTIDE
EXCHANGE FACTOR FOR ARF6, CAUSE NON-SYNDROMIC MENTAL RETARDATION |
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