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41

39

9

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David Godler

Novel epigenetic markers of the Fragile X alleles

42

27

7

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Danuta Loesch

The role of premutation and grey zone FMR1 alleles in the origin of parkinsonism

43

81

P3

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Marcela Gomez

STUDY OF 5'UTR OF THE FMR-1 GENE IN MEN FROM SALVADOR, BAHIA, BRAZIL

44

82

P3

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Danilo Moretti-Ferreira

COGNITIVE AND LANGUAGE PROFILE OF FEMALES WITH FRAGILE-X PREMUTATION

45

83

P2

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Marketa Havlovicova

FMR1 Gene Expansion, Large Deletion of Xp and Skewed
X-inactivation in a Girl with Mental Retardation and Autism

46

51

13

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Laia Rodrguez-Revenga

PENETRANCE OF FMR1 PREMUTATION ASSOCIATED PATHOLOGIES IN FRAGILE-X SYNDROME FAMILIES

47

84

P1

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Temis Felix

Screening for Fragile X syndrome in A mentalLY retardED POPULATION

48

29

8

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Emily Allen

Verbal intelligence quotient (VIQ) is associated with FMR1 repeat size and reproductive cycling characteristics in women

49

26

7

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Jim Grigsby

MRI Anomalies among Asymptomatic Male Carriers of the Fragile X Premutation

50

47

12

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Eiko de Jong

USING DROSOPHILA TO SYSTEMATICALLY STUDY THE ROLE OF ALL MENTAL RETARDATION GENES IN SYNAPTIC DEVELOPMENT

51

2

2

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Guy Froyen

A NOVEL RECURRENT COPY NUMBER GAIN AT Xq28 IN FOUR MR FAMILIES REVEALS A DOSAGE-DEPENDENT SEVERITY OF THE PHENOTYPE AND SUGGESTS A NOVEL RECOMBINATION MECHANISM

52

5

2

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Jozef Gecz

UNDERSTANDING THE MOLECULAR PATHOLOGY OF UPF3B MUTATIONS

53

85

P1

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Ilaria meloni

THE XLMR GENE ACSL4 PLAYS A ROLE IN DENDRITIC SPINE ARCHITECTURE

54

86

P1

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Magadela Nawara

MICROdeletion at xq21 in a patient with nonsyndromic mental retardation validates the novel XLMR gene ZNF711

55

53

13

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Philippos Patsalis

SCREENING OF A COHORT OF 100 MALE XLMR PATIENTS USING A NEW FULL COVERAGE CHROMOSOME X EXON-SPECIFIC ARRAY

56

87

P3

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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

57

88

P1

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Cintia Santos-Reboucas

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

58

89

P1

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Yu-ichi Goto

MOLECULAR GENETIC ANLYSIS OF MENTAL RETARDATION IN JAPANESE COHORT

59

58

14

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Anna Hackett

CASK MUTATIONS CAUSE X-LINKED NYSTAGMUS AND VARIABLE XLMR PHENOTYPES

60

36

9

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Louise Gane

Fragile X Newborn Screening in the Clinical Setting