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1073F Mutations in gene X cause enchondroma
formation in Ollier disease and Maffucci syndrome.
T.
Pansuriya, J. van Oosterwijk, R. van Eijk, M. van Ruler, S.
Verbeke, D. Meijer, K. H. Nord, S. Daugaard, L. Sangiorgi,
B. Toker, B. Liegl-Atzwanger, M. San-Julian, R. Sciot, L. G.
Kindblom, K. Szuhai, J. V. M. G. Bovee.
1074F The molecular genetic basis of pentosuria:
Solving Garrod’s fourth inborn error of metabolism.
S.
B. Pierce, C. H. Spurrell, J. B. Mandell, M. C. King, A. G.
Motulsky.
1075F Exome sequencing in a consanguineous family
segregating familiar juvenile polyarthritis.
R. Rabionet,
J. I. Aróstegui, R. Medino, C. Tornador, D. Comas, E.
González, S. Ossowski, J. Yagüe, X. Estivill.
1076F Discovery of defects in two central checkpoints
of protein glycosylation associated with a broad
spectrum of disorders.
S. Rust, L. C. Tegtmeyer, S.
Moormann, E. Schrapers, A. Witten, J. Reunert, T.
Marquardt.
1077F Mutations in NOTCH2 cause Hajdu Cheney
syndrome and serpentine fibula polycystic kidney
disease.
M. A. Simpson, M. D. Irving, M. J. Gray, E.
Asilmaz, D. Dafou, F. V. Elmslie, S. Mansour, S. E. Holder,
C. E. Brain, B. K. Burton, K. H. Kim, R. M. Pauli, S.
Aftimos, H. Stewart, C. A. Kim, M. Holder-Espinasse, W.
M. Drake, S. P. Robertson, R. C. Trembath.
1078F Chondrodysplasia, joint dislocations,
brachydactyly and cleft palate caused by recessive
mutations in
IMPAD1
, the gene coding for the Golgi-
resident nucleotide phosphatase, gPAPP: A novel
distinct phenotype associated with a proteoglycan
sulfation defect.
A. Superti-Furga, E. Lausch, S. Unger,
C. Gilissen, A. Rossi, U. Knoll, S. Nampoothiri, M. Nair, M.
Del Rosario, H. Venselaar, J. Spranger, B. Campos-Xavier,
H. G. Brunner, L. Bonafé, J. A. Veltman, B. Zabel, L.
Vissers.
1079F Exome sequencing a single proband reveals
that mutations in the
MTHFD1
gene are responsible
for a novel inborn error of folate metabolism.
D.
Watkins, J. Ganesh, J. A. Schwartzentruber, L. Dempsey
Nunez, J. Orange, J. Majewski, D. S. Rosenblatt.
1080F Compound heterozygous mutations in the
ERCC6 gene cause a severe form of Cockayne
syndrome in an Amish isolate.
B. Xin, H. Wang.
1081F Molecular characterization of the disease genes
in patients with Cornelia de Lange syndrome.
J. Y.
Yang, J. Y. Wang, K. Y. Koo, C. H. Lee, S. J. Kim, J. E.
Lee, J. S. Lee.
1082F Exome sequencing identifies a
PLCG2
mutation
in a dominantly inherited systemic inflammatory
disease.
Q. Zhou, G. Lee, J. Brady, A. Sheikh, J. Khan, D.
Kastner, I. Aksentijevich.
Friday Poster Authors are reminded to remove posters from the boards at 4:00 pm.
The Exhibit Hall will close at 4:30 pm.
1083F Epistatic interaction of mutations in DOCK8 a
CLEC7A as a cause of intractable diarrhea, eczema
and immunodeficiency in four brothers.
D. L. Dinwid
S. F. Kingsmore, S. Caracciolo, F. Colombo, A. Prandini
G. Tabellini, M. Giacomelli, M. E. Cantarini, A. Pession,
J. Bell, N. A. Miller, S. L. Hateley, C. J. Saunders, L.
Zhang, G. P. Schroth, S. Parolini, R. Badolato.
1084F The spectrum of MEFV mutations in an Arabi
cohort.
A. A. Kohilan, R. Z. Taha, D. F. Ahram, S. Ayes
J. Alami, H. I. El-Shanti.
1085F Identifying causal mutations for primary
immunodeficiencies in Southeast Asian region using
whole exome sequencing.
J. Yang, W. Yang, P. P. W.
Lee, S. Zeng, L. Zhang, P. C. Sham, Y. L. Lau.
1086F A rare case of trans-heterozygous autosomal
dominant polycystic kidney disease with bilineal
inheritance of PKD1 and PKD2 mutations.
M. Roifma
D. Chitayat, R. Teitelbaum, J. E. Murphy, K. Wang, N. H
C. F. Morel, Y. Pei.
1087F Autosomal dominant adult neuronal ceroid
lipofuscinosis (Kufs disease) maps to chromosome
20q13.33.
M. Cadieux-Dion, P. Lachance-Touchette, C.
Meloche, S. Leonberg, F. Andermann, E. Andermann, S
Berkovic, G. A. Rouleau, P. Cossette.
1088F In situ detection of globotriaosylceramide by
MALDI MS-imaging in mouse model of Fabry diseas
R. Dobrovolny, M. Volny, H. Faltyskova, P. Novak, V.
Havlicek, J. Ledvinova, B. Asfaw, H. Hulkova, M. Ellede
L. Kuchar, R. J. Desnick.
1089F Mucopolysaccharidosis type II: Thirteen novel
mutations in the IDS gene of the Czech and Slovak
patients.
L. Dvorakova, G. Storkanova, M. Hrebicek, L.
Stolnaya, H. Vlaskova, H. Poupetova, E. Hruba, M.
Magner, J. Zeman.
1090F Fabry disease: Identification and
characterization of 12 novel alpha-galactosidase A
mutations causing variable phenotypes.
D. P. Germai
C. Boucly, E. Caudron, F. Jabbour, X. Jeunemaitre, N.
M. Piraud, P. Prognon, G. Reboul, K. Benistan.
1091F Identification of 83 novel alpha-mannosidosis
associated sequence variants: Functional analysis o
MAN2B1
missense mutations.
H. M. F. Riise Stenslan
H. B. Klenow, L. V. Nguyen, G. M. Hansen, D. Malm, O.
Nilssen.
1092F Exome sequencing of trios identifies de novo
mutations in novel candidate genes for permanent
neonatal diabetes.
H. Lango Allen, R. C. Caswell, S. E
Flanagan, A. T. Hattersley, S. Ellard.
1093F Frequency of SPG48 in autosomal recessive a
sporadic spastic paraplegia patients.
N. A. Schlipf, P.
Bauer, S. Klimpe, K. N. Karle, M. Synofzik, J. Schicks,
Riess, L. Schöls, R. Schüle.