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1027F A patient with Van den Ende-Gupta syndrome:
Molecular analysis and comparison of clinical features
with previously reported patients.
G. C. Gowans, K. C.
Platky, K. E. Jackson, P. L. Brock, J. J. Wetherbee-Landis,
J. H. Hersh, K. M. Goodin, A. Asamoah.
1028F Increased bone density, short stature and
bowed lower limbs in an inbred kindred: A probable
new genetic skeletal disorder.
G. F. Leal, R. Lyra, E. O.
1029F Oculodentodigital dysplasia in a family with
multiple malformations of hands and feet.
G. L.
Yamamoto, M. C. Moreira, I. Gomy, A. C. Pereira, C. A.
Kim, D. R. Bertola.
1030F Two sibs with mulibrey nanism reported from
H. Yoshihashi, S. Oomori, S. Satoh, C. Torii, K.
1031F Novel mutations in
in non
consanguineous isolated ectopia lentis.
A. Chandra, J.
A. Aragon-Martin, D. G. Charteris, A. Saggar, A. H. Child,
G. Arno.
1032F Small size Xq28 duplication with unusual filamin
A gene amplification associated with mental
retardation, severe behavioural inhibition, and high
intensity signals of periventricular white matter.
Bilan, N. Bahi-Buisson, B. Maniere, P. Dumaine, A. Kitzis,
B. Gilbert-Dussardier.
1033F A novel Xq28 duplication syndrome distal to
accounts for 10% of male patients with
combined callosal and cerebellar anomalies.
S. L.
Christian, S. Sajan, C. T. Sullivan, L. Fernandez, S.
Esmeeli, E. Rider, P. G. Wheeler, K. Silver, D. Mei, E.
Parrini, R. Guerrini, J. T. Glessner, H. Hakonarson, E. H.
Sherr, W. B. Dobyns.
1034F Long-term survival in TARP syndrome and
confirmation of
as the disease causing gene.
K. W. Gripp, E. Hopkins, J. J. Johnston, C. Krause, W. B.
Dobyns, L. G. Biesecker.
1035F Functional analysis of novel missense alleles in
arylsulfatase E and identification of potential
phenocopies in patients with X-linked recessive
brachytelephalangic chondrodysplasia punctata
C. Matos-Miranda, G. Nimmo, S. Bale, B.
Williams, N. Braverman.
1036F Ehlers-Danlos syndrome and bilateral
periventricular heterotopia due to the novel mutation
of p.G132V in the CHD1 in FLNA: An infantile case
presented with respiratory distress due to
Y. Watanabe, J. Okada, K. Kimura, Y.
Okamatsu, T. Oya, M. Yoshino, H. Yagi, M. Sato.
1037F Phenotype and genotype in 22 Slovene patients
with incontinentia pigmenti.
K. Writzl, N. Teran, B.
Friday Poster Authors are reminded to remove posters from the boards at 4:00 pm.
The Exhibit Hall will close at 4:30 pm.
Genetic Counseling and Clinical
1038F Amplicon resequencing of the cystic fibrosis
transmembrane conductance regulator gene.
L. Joe,
Achmann, F. Stellmer, S. Zhan, L. Argyrioul, R. Greither,
Dixon, A. Rico, A. Sartori, N. Fong, R. Padilla, R. Fish,
Patel, J. Berena, T. Burcham, B. Auber.
1039F Whole genome sequencing in a patient with
aortic aneurysm: When gene panels are not sufficie
C. Skrzynia, C. Schmitt, J. Berg.
1040F Pre-test genetic counseling for whole genom
sequencing: Development of a protocol and evaluati
of participant experience.
K. Trzupek, A. Trivedi, K.
Ormond, R. Sutphen.
1041F Screening of LRTOMT gene (DFNB63 locus) i
Iranian patients with autosomal recessive
nonsyndromic hearing loss.
N. Yazdanpanahi, S.
Ashoori, E. Farrokhi, H. Taghizade, R. Heshmatifar, SH.
Shahbazi, M. Hashemzadeh.
1042F Association of ADAM33 gene polymorphisms
and their haplotypes with asthma in an Indian
P. Tripathi, S. Awasthi, R. Prasad, N. Husai
S. Ganesh.
1043F Consensus: A novel framework for evaluation
uncertain gene variants in laboratory test reporting.
K. Crockett, P. G. Ridge, A. R. Wilson, E. Lyon, M. S.
Williams, S. P. Narus, J. C. Facelli, J. A. Mitchell.
1044F Association of human leukocyte antigen
polymorphisms and chronic hepatitis B infection
A. Fejzullahu, L. Doganay, I. Tuncer, F. Enc,
Ozturk, Y. Colak, G. Dinler.
1045F Role of population counseling and screening
thalassemia prevantion in India.
A. Nair, L. Sharma, J.
Hatti, G. Mulgund, S. Aneeb, Q. Hassan.
1046F Importance of appropriate genetic counseling
families to prevent thalassemia in India.
L. Sharma,
Nair, J. Hatti, G. Mulgund, S. Aneeb, S. Jain, P. V., Q.
Hasan, Thalassemia and Sickle Cell Society.
1047F Next-Generation Sequencing Panel for the
evaluation of syndromal autism.
C. D. Collins, E. Chin
S. Bhide, S. McGee, A. Tanner, D. Rhodenizer, J. Jones
M. Basehore, M. Friez, M. Hegde.
1048F Adaptive functioning and health-related qualit
of life of patients with mucopolysaccharidosis type I
(Hunter syndrome).
W. Packman, M. C. Needham, S.