Page 252 - ASHG 2012 Annual Meeting Program Guide

POSTER SESSIONS
241
POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
3145
W Further expansion of the Chediak-
Higashi phenotype: Three adult siblings with
neurodegenerative disease and homozygous for a
novel
LYST
deletion.
L. Mehta, C. Cho, F. R. Dembitzer, A.
Szporn, M. C. Chicka, J. D. Wesfeld-Adams.
3146
F Familial acanthosis nigricans: Phenotypic
features of aberrant area cutanea and hyperpigmented
dots identified by dermoscopy.
N. Oiso, M. Miyake, K.
Fukai, A. Kawada.
3147
W Clinical clues to differentiate among severe
forms of osteogenesis imperfecta.
P. Prasun, A. Jay, D.
Stockton.
3148
F Description of a fetal syndrome associated
with
HNF1B
mutation and a wide intrafamilial disease
variability.
M. Rasmussen, I. Vogel, O. B. Petersen, M.
Ramsing, L. Sunde.
3149
W Novel molecular changes and their associated
clinical characteristics in Saudi patients with familial
hemophagocytic lymphohistiocytosis.
A. Al-Ahmari, O.
Alsmadi, L. Elbaik, T. Elamin, B. Al-Saud, S. Al-Shambri,
M. Al-Awwami, I. Al-Fawaz, M. Ayas, K. Siddiqui, M.
Viqaruddin, A. Hawwari.
3150
F Hip pathology in Majewski osteodysplastic
primordial dwarfism type II.
M. B. Bober, A. F. Karatas, A.
L. Duker, K. Rogers, C. Ditro, W. G. Mackenzie.
3151
W Boyadjiev-Jabs syndrome: Clinical and
molecular characterization of three new patients.
S. A.
Boyadjiev Boyd, S. Kim, L. Bivina, E. Zackai, P. L. Crotwell,
K. Õunap, J. Kim.
3152
F Schinzel-Gideon syndrome in two Brazilian
patients: Report of a novel mutation in
SETBP1
.
E. D. F.
Carvalho, M. Lazar, T. F. Almeida, C. R. D. C. Quaio, G. L.
Yamamoto, K. M. Rocha, C. A. Kim, M. R. Passos-Bueno,
D. R. Bertola.
3153
W
HOXA10
and
HOXA13
sequence variations
in human female genital malformations including
congenital absence of the uterus and vagina.
A. Ekici,
C. Büttner, P. Strissel, P. Oppelt, S. Renner, S. Brucker, M.
Beckmann, R. Strick.
3154
F Establishing a paternal age effect for Crouzon
syndrome with acanthosis nigricans.
T. Greer, C.
LaDana, P. Barros-Nunez, F. Di Rocco, C. Collet, E. W.
Jabs, R. L. Glaser.
3155
W Characterization of hyper-IgM syndrome due to
CD40 deficiency in 11 patients.
A. Hawwari, H. Alassiri,
Z. Al-Sum, A. Al-Ghonaium, S. Al-Muhsen, H. Al-Dhekri,
R. Arnaout, O. Alsmadi, E. Borrero, A. Abu-staiteh, H. Al-
Mousa, B. K. Al-Saud.
3156
F New insights into the renal aspects of
hypotrichosis-lymphedema-telangiectasia syndrome
caused by a mutation in the
SOX18
gene.
S. Moalem, M.
Vikkula, E. Harvey, D. Chitayat.
3132
F Two brothers with autosomal-recessive primary
hypertrophic osteoarthropathy caused by homozygous
deletion in
HPGD
gene: Neonatal findings and long-
term follow-up.
B. Tüysüz, S. Yilmaz, K. Bilguvar, O.
Kasapçopur, E. Gül, M. Günel.
3133
W Germline mosaicism for a 12q24 deletion
identifies haploinsufficiency of
MED13L
as a cause of
hypotonia and moderate developmental delay.
R. C.
Gallagher, S. Scrivner, K. Brown, A. Collins, M. Saenz.
3134
F Genetic analysis of the
GBA
gene in Japanese
familial Parkinson’s disease.
Y. Li, M. Funayama, T.
Sekine, L. Li, H. Yoshino, K. Nishioka, H. Tomiyama, N.
Hattori.
3135
W Manganese-related T1 hyperintensities of the
basal ganglia in hereditary hemorrhagic telangiectasia
with iron-deficiency anemia.
M. McKinnon, S. Appel-
Cresswell, B. Jung, S. Langlois.
3136
F
CASK
aberrations in males with Ohtahara
syndrome and cerebellar hypoplasia.
H. Saitsu, M.
Kato, H. Osaka, N. Moriyama, H. Horita, K. Nishiyama, T.
Yoshinori, H. Doi, N. Miyake, K. Hayasaka, N. Matsumoto.
3137
W Unusual presentation of combined saggital-
metopic synostosis is caused by mutations in the
MSX2
gene: Expanding the phenotype of the Boston-
type craniosynostosis syndrome.
O. M. Vanakker, A.
Janssen, M. J. Hosen, P. Jeannin, P. J. Coucke, A. De
Paepe.
3138
F Automated preparation of samples for benchtop
sequencing applications.
I. Meek.
3139
W Neurofibromatosis type 1 and infantile
myofibromatosis: A shared genetic basis or
independently co-existent entities?
S. Krishnamurthi, V.
Cox, H. Guo, K. Rauen.
3140
F Homozygosity mapping and candidate gene
cloning identified
CLDN10
variation to be possibly
responsible for congenital ichthyosis: Renal
hypokalemia in an Algerian family.
S. Hadj-Rabia, Y. Al-
Sarraj, M. Kambouris, C. Bodemer, H. El-Shanti.
3141
W Homozygous mutation of
SIX1
associated with
a severe branchio-oto-renal syndrome phenotype.
S. L.
Sawyer, M. A. Thomas, R. Lamont, L. Dimnik, P. Gordon,
X. C. Wei, F. P. Bernier, J. S. Parboosingh, A. M. Innes.
3142
F Cardiac malformations associated with germline
WT1
mutations in children presenting with Wilms’
tumor.
S. Bowdin, C. Owens, D. Malkin, N. Parkinson, M.
Friedburg, R. Grant.
3143
W False positive diagnosis of Marfan syndrome in
adult patient with homocystinuria who fulfilled Ghent
criteria.
S. Dyack, H. MacDonald, K. Schindeler, A. Rideout.
3144
F VCP disease is associated with cytokine
imbalances in patient plasma.
E. Dec, F. Zaldivar, M.
Wencel, M. Khare, J. Vesa, V. E. Kimonis.