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21

71 

P2

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Charles E. Schwartz

TWO-PERCENT OF PATIENTS SUSPECTED OF HAVING ANGELMAN SYNDROME HAVE TCF4 MUTATIONS

22

72 

P2

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Ilari Meloni

MUTATIONS IN THE FOXG1 GENE CAUSE THE CONGENITAL VARIANT OF RETT SYNDROME

23

73 

P2

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Pietro

Chiurazzi

A SPLICING MUTATION IN THE OPHN1 GENE CAUSES MENTAL RETARDATION AND CEREBELLAR HYPOPLASIA IN A THREE GENERATION ITALIAN FAMILY

24

34

9

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W. Ted Brown

Fragile X Prenatal Studies:  Molecular Analyses of 890 pregnancies

 

25

74 

P2

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W. Ted Brown

Selective Identification of Lymphoblastoid Extracts from Fragile-X or Control Subjects utilizing Monoclonal Antibodies to FMR1 (FMRP)

26

60

14

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Jozef Gecz

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

27

75 

P3

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Juliana Mazzeu

THE ORIGIN OF TRISOMY 21 IN THE OFFSPRING OF FMR1 PREMUTATION CARRIERS

 

28

76 

P1

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Merel Oortveld

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

29

25

7

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Randi Hagerman

Psychopathology in Premutation Carriers: Should this be added to Fragile X-associated Disorders?

30

77 

P2

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Karen Usdin

Different sides of the same coin? Repeat expansion and chromosome fragility in Fragile X syndrome

31

14 

5

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Karen Usdin

Insight into Oocytes: the ovaries of Fragile X premutation mice

32

7

3

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Wei Chen

Chromosome sorting and next generation sequencing in consanguineous families with autosomal recessive mental retardation: separating the wheat from the chaff

33

40

10

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Pietro Chiurazzi

ANALYSIS OF THE EXPRESSION PROFILE OF mRNAs AND microRNAs IN FRAGILE X SYNDROME

34

54

13

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Pietro Chiurazzi

CATALOGUE OF XLMR CONDITIONS (UPDATE 2009) AND

TRANSCRIPTIONAL PROFILE OF XLMR GENES IN HUMAN TISSUES

35

23

7

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Claudia Greco

NEUROPATHOLOGICAL ANALYSIS OF FOUR FRAGILE X SYNDROME (FXS) AUTOPSY BRAINS

 

36

20

5

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Augustini Utari

TIME FOR A CONTROLLED TRIAL OF MINOCYCLINE FOR FRAGILE X SYNDROME

37

33

8

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Weerasak Chonchaiya

TOTAL CLINICAL ASCERTAINMENT OF DAUGHTERS WHO HAVE FATHERS WITH FRAGILE X ASSOCIATED TREMOR ATAXIA SYNDROME

38

78 

P2

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Montserrat Mila

NO EVIDENCE FOR SKEWED X-CHROMOSOME INACTIVATION IN FRAGILE X SYNDROME PREMUTATION CARRIERS

39

79 

P2

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Larissa Fontes

DISTRIBUTION OF FMRP TO GRANULES IN HUMAN GRANULOSA CELLS UPON STRESS

40

80 

P2

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Stephanie Sherman

Co-occurring diagnoses among FMR1 premutation allele carriers