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Old abstract number |
New abstract number |
Session number |
View abstract |
Presenting Author |
Abstract title |
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1 |
61 |
P2 |
David Godler |
IMPROVED METHODOLOGY FOR ASSESSMENT OF mRNA LEVELS IN BLOOD OF
PATIENTS WITH FMR1 RELATED DISORDERS. |
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2 |
62 |
P3 |
Marketa Havlovicova |
FMR1 Gene Expansion, Large
Deletion of Xp
and X-inactivation in a Girl with Mental Retardation and Autism |
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3 |
63 |
P1 |
Kimia Kahrizi |
A NOVEL AUTOSOMAL RECESSIVE SYNDROME OF MENTAL
RETARDATION, KYPHOSCOLIOSIS AND HEART DEFECTS MAPS TO CHROMOSOME REGION 11q14-q23 |
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4 |
64 |
P3 |
Charles Loureno |
FRAGILE X SCREENING FOR FRAXA AND FRAXE MUTATIONS
USING PCR BASED STUDIES AMONG MALES WITH MILD/MODERATE MENTAL RETARDATION OF
UNKNOWN ORIGIN: A BRAZILIAN EXPERIENCE OF COMMUNITY GENETICS |
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5 |
65 |
P2 |
Charles Loureno |
GENETIC SCREENING TO DETERMINE AN ETIOLOGICAL
DIAGNOSIS IN PATIENTS WITH MENTAL RETARDATION IN A SOUTHEAST REGION OF BRAZIL |
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6 |
66 |
P3 |
Charles Loureno |
IN THE HEART OF BRAZIL: CLINICAL EVALUATION AND
ETIOLOGICAL CHARACTERIZATION OF MENTALLY RETARDED SEMI-INSTITUTIONALIZED
PATIENTS IN CENTRAL-WESTERN OF BRAZIL |
|
|
7 |
10 |
3 |
Hossein Najmabadi |
HOMOZYGOSITY MAPPING OF PRIMARY MICROCEPHALY IN 86
IRANIAN FAMILIES: NOVEL MUTATIONS AND PHENOTYPES |
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8 |
9 |
3 |
Lia Abbasi Moheb |
Two
independent mutations in the ZNF526 gene cause non-syndromic autosomal
recessive mental retardation |
|
|
9 |
8 |
3 |
Hao Hu |
Homozygosity
mapping in 4 unrelated Iranian families with autosomal recessive mental
retardation identifies overlapping linkage intervals on chromosome REGION 1p34: a frequent cause of ARMR? |
|
|
10 |
59 |
14 |
Hans-Hilger
Ropers |
Loss of the Kinetochore
Protein BOD1 Leads to Mental Retardation and Ovarian Failure |
|
|
11 |
67 |
P1 |
Hans-Hilger
Roper |
ZC3H14 Mutations Cosegregate with Non-Syndromic Autosomal Recessive Mental
Retardation (NS-ARMR) in Two Iranian families |
|
|
12 |
32
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8
|
Stephanie
L. Sherman |
FRAGILE X SYNDROME
DIAGNOSIS EXPERIENCES AMONG FAMILIES OF AFRICAN AMERICAN ETHNICITY |
|
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13 |
11 |
3 |
Andreas Tzschach |
A NOVEL AUTOSOMAL RECESSIVE MR/MCA SYNDROME
COMPRISING SHORT STATURE, BRACHYDACTYLY AND PECTUS EXCAVATUM MAPS TO 5q23-q32 |
|
|
14 |
15 |
4 |
Yong Q. Zhang |
dFMRP REGULATES
MICROTUBULES AND GENETICALLY INTERACTS WITH THE MICROTUBULE SEVERING PROTEIN
SPASTIN |
|
|
15 |
68 |
P3 |
Katrin Mnnik |
GENOMIC ABERRATIONS IN RELATION TO UNEXPLAINED
MENTAL RETARDATION IN ESTONIAN PATIENTS |
|
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16 |
69 |
P1 |
Charles Loureno |
GENETIC METABOLIC EVALUATION OF INTELLECTUAL
DISABILITY: INVESTIGATING INBORN ERRORS OF METABOLISM AS CAUSE OF MENTAL
RETARDATION |
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17 |
48 |
12 |
Monique
C.M. Balemans |
REDUCED EXPLORATION AND
INCREASED ANXIETY: AUTISTIC-LIKE FEATURES IN EHMT1+/- MICE? |
|
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18 |
55 |
14 |
Bert
B.A. de Vries |
IIDENTIFYING NOVEL
MICRODELETION MENTAL RETARDATION SYNDROMES AND CANDIDATE REGIONS FOR
AUTOSOMAL MENTAL RETARDATION |
|
|
19 |
70 |
P3 |
Irene Madrigal |
INVOLVEMENT OF 15q11.2 REARRANGEMENTS IN MENTAL
RETARDATION |
|
|
20 |
18 |
4 |
Inge Heulens |
Role
of LARG in the pathophysiology of Fragile X Syndrome |