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

3

61

Kimia Kahrizi

A NOVEL AUTOSOMAL RECESSIVE SYNDROME OF MENTAL RETARDATION, KYPHOSCOLIOSIS AND HEART DEFECTS MAPS TO CHROMOSOME REGION 11q14-q23

11

62

Hans-Hilger Roper

ZC3H14 Mutations Cosegregate with Non-Syndromic Autosomal Recessive Mental Retardation (NS-ARMR) in Two Iranian families

16

63

Charles Lourenco

GENETIC ̉METABOLICÓ EVALUATION OF INTELLECTUAL DISABILITY: INVESTIGATING INBORN ERRORS OF METABOLISM AS CAUSE OF MENTAL RETARDATION

28

64

Merel Oortveld

MODELLING MENTAL RETARDATION IN FLIES: DISSECTING MOLECULAR NETWORKS UNDERLYING COGNITIVE FUNCTION

47

65

Temis Felix

Screening for Fragile X syndrome in A mentalLY retardED POPULATION

53

66

Ilaria Meloni

THE XLMR GENE ACSL4 PLAYS A ROLE IN DENDRITIC SPINE ARCHITECTURE

54

67

Magdalena Nawara

MICROdeletion at Xq21 in a patient with nonsyndromic mental retardation validates the novel XLMR gene ZNF711

57

68

Cintia Santos- Reboucas

A NOVEL NONSENSE MUTATION IN JARID1C GENE IN A BRAZILIAN MENTAL HANDICAPPED MALE

58

69

Yu-ichi Goto

MOLECULAR GENETIC ANLYSIS OF MENTAL RETARDATION IN JAPANESE COHORT

62

70

Alzenira Costa

CGG REPEAT NUMBER AT THE FRAXA AND FRAXE LOCI DOES NOT SEEM TO BE INVOLVED IN PARKINSON DISEASE

66

71

Paula Jorge

FRAGILE-X PORTUGUESE PATIENTS: A COMMON ANCESTOR

78

72

Charles Schwartz

MUTATIONS IN MBTPS2 (A ZINC METALLOPROTEASE) RESULTS IN IFAP (ICHTHYOSIS FOLLICULARIS WITH ATRICHIA AND PHOTOPHOBIA) SYNDROME

82

73

Debora Rodrigueiro

CLINICAL INSIGHTS FROM A LARGE BRAZILIAN FRAGILE X FAMILY

94

74

Jenneke vd Ende

DUPLICATION Xq25-27.1 IN A GIRL WITH SHORT STATURE AND DYSMORPHIC FEATURES : EMERGING PHENOTYPES OF CRYPTIC DISTAL Xq DUPLICATIONS

103

75

Flora Tassone

DYSFUNCTION OF PROTEIN SYNTHESIS MEDIATED BY mTOR-DEPENDENT SIGNALING IN FRAGILE X SYNDROME

106

76

Carla Rosenberg

IS THE EXCESS OF MALE MENTAL RETARDATION CAUSED BY FUNCTIONAL AND STRUCTURAL PECULIARITIES OF THE X CHROMOSOME