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1060T Clinical genomics data infrastructure and
ClinVar.
U. Geigenmüller, D. Maglott, S. Aradhya, S. Bale,
P. R. Billings, C. Braastad, M. Eisenberg, M. J. Ferber, K.
Fuentes Fajardo, M. Hegde, B. Kattman, S. F. Kingsmore,
I. S. Kohane, D. H. Ledbetter, K. Lee, E. Lyon, C. Lese
Martin, N. A. Miller, J. Ostell, J. Paschall, H. L. Rehm, G.
Riley, C. J. Saunders, S. T. Sherry, E. D. Trautman, V.
Zvereff, D. M. Margulies.
1061T Assessment of clinical usefulness of genetic
diagnosis in neurology department of hospital.
Y.
Ichikawa, H. Ishiura, J. Mitsui, T. Matsukawa, Y. Takahashi,
H. Naruse, M. Taira, S. Tsuji, J. Goto.
1062T A nine-year experience with the genetic testing
of the rare disease acrodermatitis enteropathica.
S.
Küry, S. Schmitt, M. Giraud, C. Tesson, F. Airaud, B.
Dreno, M. Kharfi, S. Bezieu.
1063T Establishment and application of a standard
diagnostic procedure for epidermolysis bullosa in
China.
Z. Lin, Q. Chen, M. Lee, Y. Tan, Y. Yang.
1064T The Genetic Testing Registry: Genetic tests and
more.
D. Maglott, B. L. Kattman, A. Malheiro, J. Lee, M.
Ovetsky, V. Hem, V. Gorelenkov, W. Rubinstein, C.
Fomous, J. Ostell.
1065T EuroGentest Clinical Utility Gene Cards: Concise
guidelines for genetic testing in 300 diseases.
J.
Schmidtke, A. Dierking.
1066T Patients’ feelings and experience towards
predictive genetic testing for primary open angle
glaucoma.
E. Souzeau, K. Burdon, A. Dubowsky, J. E.
Craig.
1067T Tracing ancestral depth of families diagnosed
with hereditary gastrointestinal polyps and cancers.
T.
M. Tuohy, M. C. Done, N. Sargent, D. W. Neklason, R. W.
Burt.
1068T Whole genome sequencing in clinical practice:
The first year.
D. Dimmock, R. Veith, M. Gutzeit, S.
Leuthner, R. Willoughby, T. May, M. Tschannen, T.
Hambuch, P. North, H. Jacob, E. Worthey, D. Bick.
Molecular Basis of Mendelian
Disorders
1069T THM1-null mouse model of ciliopathy manifests
renal cysts, retinal defects and obesity.
P. V. Tran, D. R.
Beier.
1070T Expansion of phenotypic characteristics of
NPHP5
-related disease.
A. Vincent, D. Chitayat, R.
Weksberg, E. Heon.
Thursday Poster Authors are reminded to remove posters from the boards at 4:00 pm.
1071T Exome sequencing to identify genetic causes
primary ciliary dyskinesia with outer dynein arms
defects.
M. A. Zariwala, M. W. Leigh, L. E. Ostrowski,
D. Davis, J. S. Berg, L. Huang, W. Yin, J. L. Carson, M.
Hazucha, E. H. Turner, A. MacKenzie, M. Bamshad, D.
Nickerson, J. Shendure, M. R. Knowles, Genetic Disord
of Mucociliary Clearance Consortium.
1072T Disruption of CBP gene and decreased
expression of CREB, NF
κ
Bp65, c-Jun and c-Fos, BC
and c-MYC in a case of Rubinstein-Taybi syndrome.
D. Kulikowski, L. C. Torres, P. L. Ramos, S. M. M.
Sugayama, C. A. Moreira-Filho, M. Carneiro-Sampaio.
1073T Exploring the intrinsic functional gene dose o
recessive mendelian mutations with a computationa
visualizing approach.
L. Li, M. McGuffin, W. Foulkes.
1074T Clinical and molecular characterization of
mircovillous inclusion disease in four Arab families.
Meyer, D. Monies, H. Al Zaidan, A. Mehaidib, M. Al
Edreesi, E. Naim, O. Khashoggi, M. Faqih, Z. Rahbeeni.
1075T NPHS2, NPHS1 and WT1 mutations in Indian
children with initial steroid resistant nephrotic
syndrome.
S. Sharma, A. K. Dinda, A. Bagga, M. Kabr
1076T Exome sequencing and analysis of split-hand
foot malformation and long-bone deficiency families
with non-Medelian inheritance.
R. Uppala, U.
Ratnamala, M. Naveed, M. T. Al-Ali, N. Al-Khaja, A.
Bashamboo, K. McElreavey, S. K. Nath.
1077T Gene regulatory mutations as a cause of hum
limb malformations.
J. E. VanderMeer, T. Laurell, A. M.
Wenger, G. Bejerano, G. Grigelioniene, A. Nordenskjold,
M. Arner, A. Nordgren, N. Ahituv.
1078T Pitx1 haploinsufficiency causes clubfoot in
humans and mice.
D. M. Alvarado, K. McCall, H. Afero
M. J. Silva, J. R. Garbow, W. M. Spees, T. Patel, M.
Siegel, M. B. Dobbs, C. A. Gurnett.
1079T Aberrant firing of replication origins explains
nonrecurrent rearrangements in the human genome.
Ankala, A. R. Hegde, A. Meka, E. L. H. Chin, S. H. Askr
S. Bhide, M. R. Hegde.
1080T Analysis of X chromosome copy number
variations in Brazilian men with idiopathic intellectu
disability.
N. Fintelman-Rodrigues, M. Campos, Jr., J.
Santos, M. M. G. Pimentel, C. B. Santos-Rebouças.
1081T Molecular characterization of autosomal
recessive hyper IgE syndrome in Saudi Arabia.
A.
Hawwari, Z. Alsum, S. Al-Hisi, E. Borrero, H. Khalak, O.
Alsmadi, R. Arnaout, A. Al-ghonaium, S. Al-Muhsen, H.
Dhekri, B. Al-Saud, H. Al-Mousa.