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1116W Targeted resequencing for gene discovery in
Joubert syndrome.
P. Taylor, H. Lee, S. F. Nelson.
1117W A novel STXBP1 mutation in genetic focal
seizure with neonatal onset.
M. Vatta, M. B. Tennison, A.
S. Aylsworth, C. M. Turcott, M. P. Guerra, C. Eng, Y. Yang.
1118W A Nijmegen breakage syndrome family with
four affected members and three carriers having
malignancies.
F. Ozkinay, E. Karaca, H. Onay, N. Karaca,
G. Aksu, B. Erturk, N. Kutukculer.
1119W Study of undelineated autosomal recessive
disorder among Arabs.
J. Alami, Y. Al-Saraj, Y. Bejaoui,
M. Osman, E. Abuazab, M. El-Dow, H. El-Shanti.
1120W Familial Alzheimer's disease with amyloid
precursor protein D678N mutation: A case report.
V.
Andreoli, F. Trecroci, A. La Russa, M. Liguori, P.
Spadafora, G. Di Palma, A. Gambardella, R. Cittadella.
1121W Mutations in
RAB40AL
cause Martin-Probst
syndrome, an X-linked disorder characterized by
sensorineural hearing loss, cognitive impairment, short
stature, and craniofacial dysmorphisms.
J. K. Bedoyan,
V. Schaibley, W. Peng, Y. Bai, K. Mondal, A. C. Shetty, M.
Durham, A. Dhiraaj, J. M. Skidmore, J. B. Kaplan, C.
Skinner, R. E. Stevenson, C. E. Schwartz, A. Antonellis, M.
E. Zwick, J. D. Cavalcoli, J. Li, D. M. Martin.
1122W Exome sequencing reveals new gene for
autosomal recessive congenital ichthyosis in a
consanguineous German family.
K. M. Eckl, A. Önal-
Akan, R. Casper, H. Thiele, I. Hausser, M. L. Preil, J.
Altmüller, G. Nürnberg, F. Stock, P. Nürnberg, H. Traupe,
H. C. Hennies.
1123W The
MYH9
and
APOL1
genes are independently
associated with sickle cell disease nephropathy.
M. E.
Garrett, E. C. Okocha, K. Soldano, L. M. De Castro, J. C.
Jonassaint, E. P. Orringer, J. R. Eckman, M. J. Telen, A. E.
Ashley-Koch.
1124W Molecular genetic characterization of SMAD
signaling molecules in pulmonary arterial
hypertension.
R. D. Machado, M. T. Nasim, T. Ogo, M.
Ahmed, R. Randall, H. M. Chowdury, K. M. Snape, T. Y.
Bradshaw, L. Southgate, G. J. Lee, I. Jackson, G. M.
Lord, J. S. R. Gibbs, M. R. Wilkins, K. Ohta-Ogo, K.
Nakamura, B. Girerd, F. Coulet, F. Soubrier, M. Humbert,
N. W. Morrell, R. C. Trembath.
1125W Examination of Fuchs endothelial corneal
dystrophy in African Americans.
M. A. Minear, J.
Rimmler, S. Watson, E. Balajonda, Y.-J. Li, G. K.
Klintworth, N. A. Afshari, S. G. Gregory.
1126W A novel mutation in
PRPF31
linked with
autosomal dominant retinitis pigmentosa in a large
Indian family.
S. Saini, V. Vanita, D. Singh, J. R. Singh, P.
N. Robinson.
Wednesday Poster Authors are reminded to remove posters from the boards at 6:30 pm.
1127W Familial amyloid polyneuropathy (ATTRV30M)
What can we learn from the study of families of this
AD disorder in which the proband had no affected
parent at the time of diagnosis?
A. Sousa, C. Lemos,
Martins-da Silva, R. Magalhães, J. Neto, I. Alonso, J.
Pinto Basto, J. Sequeiros, T. Coelho.
1128W Identification of an interaction between LIX1,
feline SMA candidate gene, and DACHSOUS1.
E. N.
Wakeling, J. C. Fyfe.
1129W NPHP4 variants are associated with congenit
heart malformations and heterotaxy.
V. French, I. van
Laar, M. Wessels, C. Rohe, J. Roos-Hesselink, I. Frohn-
Mulder, L.-A. Severijnen, B. de Graaf, G. Wang, R. Sch
G. Breedveld, E. Mientjes, M. van Tienhoven, E. Jadot,
Jiang, A. Verkerk, S. Swagemakers, H. Venselaar, Z.
Rahimi, H. Najmabadi, H. Meijers-Heijboer, E. de Graaff
W. Helbing, R. Willemsen, K. Devriendt, J. Belmont, B.
Oostra, J. Amack, A. Bertoli-Avella.
1130W Exome sequencing of distantly affected
relatives effectively and efficiently identifies causativ
genes for familial thoracic aortic aneurysms and
dissections.
D. C. Guo, E. S. Regalado, R. Zhao, C. E.
Kibler, G. Chang, J. Shendure, M. K. Rieder, D. A.
Nickerson, D. M. Milewicz.
1131W Novel insights regarding the mechanism and
treatment of stress-induced cardiomyopathy in Marf
syndrome.
R. Rouf, E. Takimoto, D. Bedja, N. Koitabas
D. P. Judge, D. A. Kass, H. C. Dietz.
1132W The profession as a cause for mutation
identification.
H. Yonath, H. Reznik-Wolf, L. Zeler, E.
Pras, M. Frydman.
1133W Acid fatty metabolism: A new therapeutic
target for epidermolysis bullosa simplex.
M. Bchetni
M. Tremblay, G. Leclerc, A. Dupéré, J. Powell, C.
McCuaig, C. Morin, V. Legendre-Guillemin, C. Laprise.
1134W Combined malonic aciduria and methylmalo
aciduria: Exome sequencing reveals mutations in th
ACSF3
gene in patients with a non-classical
phenotype.
L. Dempsey Nunez, A. Alfares, K. Al-Thihli,
Mitchell, S. Melançon, N. Anastasio, J. Majewski, K. C.
Ha, D. S. Rosenblatt, N. Braverman.
1135W Mitochondrial mistargeting causes autosoma
dominant renal Fanconi syndrome.
E. Klootwijk, M.
Reichold, A. Helip-Wooley, H. Stanescu, J. Reinders, D.
Bockenhauer, W. A. Gahl, R. Warth, R. Kleta.
1136W Novel recurrent CFTR mutation in Chilean
cystic fibrosis patients.
G. Lay-Son, M. Vasquez, F. Vi
M. L. Boza, I. Contreras, J. Lozano, D. Zenteno, F. Bell
G. M. Repetto.