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1095W The ratio of urinary pyridinoline to
deoxypyridinoline crosslinks — A promising diagnostic
tool in osteogenesis imperfecta.
M. Rohrbach, M.
Kraenzlin, D. Eyre, I. Kennerknecht, C. Netzer, O. Semler,
F. Rutsch, B. Steinmann, M. R. Baumgartner, C. Giunta.
1096W Mutations in NOTCH2 in families with Hajdu-
Cheney syndrome.
M. Samuels, J. Majewski, J.
Schwartzentruber, A. Caqueret, L. Patry, J. P. Fryns, K.
Boycott, L.-G. Ste-Marie, F. McKiernan, I. Marik, H. Van
Esch, J. Michaud.
1097W A next-generation sequencing approach to
diagnosis of a family's skeletal abnormalities and
retinitis pigmentosa.
K. Schrader, A. Heravi-Moussavi, P.
Waters, J. Senz, J. Whelan, G. Ha, P. Eydoux, T. Nielsen,
B. Gallagher, A. Oloumi, N. Boyd, B. A. Fernandez, T. L.
Young, S. J. M. Jones, M. Hirst, S. P. Shah, M. A. Marra,
J. Green, D. G. Huntsman.
1098W Dominant and recessive forms of
fibrochondrogenesis resulting from mutations at a
second locus,
COL11A2
.
S. W. Tompson, E. Ali Faqeih,
L. Ala-Kokko, J. T. Hecht, R. Miki, T. Funari, V. A. Funari,
L. Nevarez, D. Krakow, D. H. Cohn.
1099W Multiple synostoses syndrome is due to a
missense mutation in exon 2 of FGF9 gene.
X. Wu, M.
Gu, L. Huang, X. Liu, H. Zhang, X. Ding, J. Xu, B. Cui, L.
Wang, S. Lu, X. Chen, H. Zhang, W. Huang, W. Yuan, J.
Yang, Q. Gu, J. Fei, Z. Chen, Z. Yuan, Z. Wang.
1100W Mutations in the NSUN2 gene cause autosomal
recessive intellectual disability in Middle Eastern
populations with elevated frequency.
L. Abbasi Moheb,
S. Mertel, L. Nouri Vahid, K. Kahrizi, A. Tzschach, D.
Wieczorek, M. Garshasbi, S. Cirak, S. S. Abedini, H.
Najmabadi, H. H. Ropers, S. Sigrist, A. W. Kuss.
1101W Identification and mapping of locus on the long
arm of chromosome 4 that is associated with mental
retardation and optic atrophy in a Qatari family with
undelineated autosomal receive disease.
Y. Al-Saraj, M.
Osman, Y. Bejaoui, G. Billedo, E. Abuazab, H. El-Shanti, J.
Alami.
1102W The syndrome of mental retardation, epilepsy
and cerebellar atrophy maps to chromosome
20p11.21-q11.23.
F. Bayrakli, M. Canpolat, H. Per, S.
Kumandas, E. Pinarbasi, I. Guney.
1103W Genetic basis of a new form of hereditary
hyperekplexia.
J. Capo-chichi, L. Patry, M. E. Samuels, J.
L. Michaud.
1104W VCP gene analysis in sporadic ALS patients.
F.
L. Conforti, W. Sproviero, I. L. Simone, G. Logroscino, P.
Valentino, M. R. Monsurrò, V. La Bella, C. Rodolico, F.
Bono, A. Patitucci, A. Magariello, L. Citrigno, M. Muglia, A.
Chiò, A. Gambardella, R. Mazzei.
Wednesday Poster Authors are reminded to remove posters from the boards at 6:30 pm.
1105W Spatacsin gene mutations are a frequent cau
of recessive spastic paraplegia but are rare in juveni
recessive forms of amyotrophic lateral sclerosis.
C.
Gellera, B. Castellotti, V. Pensato, R. Fancellu, E. Salsa
D. Pareyson, D. Di Bella, C. Mariotti, F. Taroni.
1106W Identification of ANK3 as a novel gene for
autosomal recessive intellectual disability.
Z. Iqbal, A
Razzaq, M. Shahzad, K. Neveling, L. Vissers, M. Yasir
Zahoor, L. Tomas Roca, C. Gilissen, A. T. Vulto-van
Silfhout, A. Schenck, J. A. Veltman, A. P. M. de Brouwe
S. Riazuddin, H. van Bokhoven.
1107W Massively parallel sequence analysis reveals
the causative gene of an autosomal recessive
neurodegenerative disorder, posterior column ataxia
with retinitis pigmentosa.
H. Ishiura, Y. Fukuda, J. Mit
Y. Nakahara, B. Ahsan, Y. Takahashi, Y. Ichikawa, J. Go
T. Sakai, S. Tsuji.
1108W Novel disease mechanisms underlie ATP7A-
related distal motor neuropathy.
S. Kaler, L. Yi, A.
Donsante, P. Steinbach, J. Hicks.
1109W Why X? Super X-ome sequencing for
monogenic neuronal disease classes: Intellectual
disability and chemosensory impairment.
D. Lancet,
Oz-Levi, T. Olender, E. Ben-Asher, I. Keydar, M. Khen, E
Ruzzo, K. Pelak, H. Resnik-Wolf, B. Ben-Zeev, Y. Anikst
D. Goldstein, E. Pras.
1110W Mechanism of recurrent expansion of a 700k
deletion on chromosome 14q causing dopa-respons
dystonia and ptosis.
K. Lohmann, H. Tönnies, S. B.
Bressman, I. Nagel, A. Rakovic, A. Haake, J. I. M. Sube
K. Wiegers, F. Hinrichs, Y. Hellenbroich, D. Raymond, L.
Ozelius, E. Schwinger, R. Siebert, R. Saunders-Pullman,
C. Klein.
1111W A patient affected by CADASIL carrying a no
mutation on the exon 7 of the NOTCH3 gene.
R.
Mazzei, C. Ungaro, M. Muglia, F. Ruscica, W. Sproviero
A. Patitucci, L. Citrigno, A. Magariello, A. Gambardella,
L. Conforti.
1112W iPS cells to model Rett spectrum disorders.
I
Meloni, M. Amenduni, R. De Filippis, A. Y. Cheung, F.
Ariani, F. Mari, M. A. Mencarelli, Y. Hayek, J. Ellis, A.
Renieri.
1113W A novel
SACS
mutation in a family with atypi
phenotype of autosomal recessive spastic ataxia of
Charlevoix-Saguenay.
S. Miyatake, N. Miyake, K. Ogat
M. Kawai, N. Matsumoto.
1114W Aniridia and autism in a Greek male child wit
a de novo heterozygous PAX6 (Arg317X) mutation: I
there a linked etiopathogenesis?
A. Psychogios.
1115W The genetic basis of SPG36: A novel disease
mechanism.
R. Schüle, N. Schlipf, F. Schiele, C. Beetz,
Dürr, S. Klimpe, A. Lossos, S. Otto, F. Santorelli, L.
Schöls, P. Bauer.