Session 14

Date

Sept 18th

Chairman:

Bert de Vries

Title Session

MR – Gene identification

 

 

 

 

Time

Old

Abstract #

New abstract #

Presenter

Title  Presentation

14:40 –

15:00

18

55

Bert de Vries

Identifying novel microdeletion mental retardation syndromes and candidate regions for autosomal mental retardation

15:00 –

15:20

88

56

Zafar Iqbar

IDENTIFICATION OF NOVEL GENES FOR AUTOSOMAL RECESSIVE MENTAL RETARDATION IN PAKISTANI POPULATION

15:20 –

15:40

89

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

15:40 –

16:00

59

58

Anna Hackett

CASK MUTATIONS CAUSE X-LINKED NYSTAGMUS AND VARIABLE XLMR PHENOTYPES

16:00 –

16:20

10

59

Hans-Hilger Ropers

LOSS OF THE KINETOCHORE PROTEIN BOD1 LEADS TO MENTAL RETARDATION AND OVARIAN FAILURE

16:20 –

16:40

26

60

Jozef Gecz

MUTATIONS IN IQSEC2, A GUANINE NUCLEOTIDE EXCHANGE FACTOR FOR ARF6, CAUSE NON-SYNDROMIC MENTAL RETARDATION