Old abstract number

New abstract number

Session number

View abstract

Presenting Author

Abstract title

61

52

13

Click here

Lucy Raymond

A SYSTEMATIC, LARGE-SCALE RESEQUENCING AND COPY NUMBER VARIANT SCREEN OF THE X CHROMOSOME CODING EXONS IN MENTAL RETARDATION

62

90 

P1

Click here

Alzenira Costa

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

63

91 

P3

Click here

Ingrid Barbato

Effect of an amino acid pool on Fragile X Syndrome carriers: clinical and neurochemical preclinical study

64

38

9

Click here

Natalie Marlowe

DEVELOPMENT OF A HIGH-THROUGHPUT ASSAY FOR DETECTING FRAGILE X EXPANDED ALELLES

65

92 

P2

Click here

Andrea Schneider

Prepulse Inhibition in Patients with FXTAS

 

66

93

P1

Click here

Paula Jorge

FRAGILE-X PORTUGUESE PATIENTS: A COMMON ANCESTOR

67

94 

P3

Click here

Rita Alves

FRAGILE-X SYNDROME: FRAGILITY IN GUARANTEEING HUMAN RIGHTS

 

68

2

Click here

Hilde Van Esche

THE MECP2 DUPLICATION SYNDROME: WHATÕS NEW?

 

69

24

7

Click here

David Hessl

ANXIETY IN FRAGILE X SYNDROME: CLINICAL ASSESSMENT, CHARACTERIZATION AND PREVALENCE

70

19

5

Click here

Frank Kooy

The GABA(A) receptor as a potential target for therapy of the fragile X syndrome

71

  6

2

Click here

Marijke Bauters

X-linked mental retardation and epigenetics

 

72

46

12

Click here

Jamie Kramer

Cooperative control of dendritic development by chromatin modifying mental retardation genes

73

17

4

Click here

Samuel Seguin

FRAGILE X MENTAL RETARDATION PROTEIN AND mRNA AT SYNAPSE

 

74

37

9

Click here

Debra Skinner

PARENTAL DECISIONS FOR ACCEPTING OR DECLINING NEWBORN SCREENING FOR FRAGILE X: ANTHROPOLOGICAL PERSPECTIVES ON GENETIC RESPONSIBILITY 

75

42

10

Click here

Edmund Jenkins

SHORTER TELOMERES IN YOUNGER MALE INDIVIDUALS WITH THE FRAGILE X PREMUTATION

76

95 

P3

Click here

Luciana Haddad

Exon 12 of Fragile Mental Retardation 1 rat ortholog is expressed in mature, cytoplasmic FMRP isoforms in rat cerebral neurons

77

16

4

Click here

Barbara Bardoni

A NOVEL FUNCTION OF FRAGILE X MENTAL RETARDATION PROTEIN IN TRANSLATIONAL ACTIVATION

78

  96

P1

Click here

Charles Schwartz

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

79

49

13

Click here

Vera

Kalscheuer

TOWARDS UNDERSTANDING THE PATHOGENETIC MECHANISM OF PQBP1 MUTATIONS IN X-LINKED MENTAL RETARDATION

80

50

13

Click here

Rafaella

Nascimento

FUNCTIONAL ANALYSIS OF UBE2A C.382C-T MUTATION: INSIGHT INTO THE MECHANISMS LEADING TO MENTAL RETARDATION