Page 241 - 30917_ASHG_Complete

This is a SEO version of 30917_ASHG_Complete. Click here to view full version

« Previous Page Table of Contents Next Page »
1011T Sirenomelia: A tale of four South African
mermaids.
S. Moosa, A. Krause.
1012T Natural history study of arthrogryposis multiplex
congenita, amyoplasia type.
T. Nichols, S. S. Hashmi, P.
Mancias, M. Raia, G. Gogola, J. T. Hecht.
1013T A novel mutation in GPC3 gene in a patient with
Simpson-Golabi-Behmel syndrome.
E. Nishi, S. Mizuno,
T. Yamamoto.
1014T Particular clinical, psychologic and behavioral
features identified in Prader-Willi syndrome.
C. Rusu, E.
Braha, M. Volosciuc, I. Ivanov, M. Gramescu, V. Gorduza,
M. Puiu, D. Dan.
1015T Unusual multiple congenital anomalies in a
newborn boy of complex etiology: Mosaic 45,XY/45,X,
duplication Xp22.33 involving
SHOX
, duplication
15q11.2 and 18q22.2-22.3, and history of maternal liver
failure due to paracetamol, illicit drugs and alcoholism
abuse.
S. Sampath, J. J. Gershanik, Y. Lacassie.
1016T Holoprosencephaly-polydactyly (pseudotrisomy
13) syndrome: A new case report.
C. Sergi, J. Gekas, D.
Kamnasaran.
1017T Inherited subtelomeric 14qdel10pdup and
14qdup10pdel in mentally retarded family members
with different phenotypes, revealed reciprocal 14q10p
translocation in their fathers.
V. Adir, E. Shahak, J.
Levitatz, N. Ekhilevitch, H. Bar-El, Z. U. Borochowitz.
1018T High frequency of copy number variants in the
chromosome 11p15.5 region in patients with
Beckwith-Wiedemann syndrome.
B. Baskin, S.
Choufani, C. Shuman, N. Parkinson, E. Lemyre, P. N. Ray,
R. Weksberg.
1019T Analysis of CNVs of the BP1-BP2 region
(15q11.2) suggests mild pathogenicity in autism
families.
N. Kommu, S. Sanders, E. Kaminsky, P.
Stankiewicz, C. Martin, A. Patel, J. Wiszniewska, A.
Beaudet.
1020T Copy number variants in cerebral palsy.
G.
McMichael, A. Moreno-De-Luca, A. MacLennan, J. Gecz,
S. Girirajan, E. Eichler, C. Martin.
1021T Microdeletion 22q11.2 in a patient with
Goldenhar syndrome.
S. F. Oliveira, P. A. C. Santos, E. L.
Freitras, H. P. N. Safatle, C. Rosenberg, I. Ferrari, J. F.
Mazzeu.
1022T Suspected gonadal mosaicism as a cause of
Gorlin syndrome.
E. Stattin, P. Lundberg, I. Golovleva.
1023T Angelman syndrome case report with
hypothyroidism.
C. E. Monterrubio Ledezma, L.
Bobadilla-Morales, L. J. Rodríguez Casillas, H. J. Pimentel
Gutiérrez, J. R. Corona Rivera, A. Corona Rivera.
Thursday Poster Authors are reminded to remove posters from the boards at 4:00 pm.
1024T Health-related quality of life in patients with
cardio-facio-cutaneous syndrome.
S. Sottile, A. Kwa
P. Magoulas, K. Rauen.
1025T A new locus for autosomal dominant renal
insufficiency associated with anemia and growth
retardation.
B. Loeys, J. Huyghe, G. Van Camp, E.
Matthys, E. Sys, M. Renard, A. Raes, J. Vandewalle, C.
Van Hemelrijk, G. Mortier, L. Van Laer.
1026T MEF2C mutations are a frequent cause of Ret
or Angelman syndrome like neurodevelopmental
disorders.
A. Rauch, D. Bartholdi, C. M. Rueegger, M.
Zweier, C. Zweier, E. K. Bijlsma, A. van Haeringen, W.
Reardon, M. Zollino, A. Baumer.
1027T 3p13p14.1 Deletion: A new microdeletional
syndrome associated with syndromic distal
arthrogryposis.
J. Thevenon, K. Dieterich, P. Callier, M.
Francoise, M. Splitt, S. Kjaergaard, K. Neas, J. Dixon, T
Dahm, F. Huet, C. Ragon, A. L. Boidron-Mosca, L.
Duplomb, M. H. Aubriot-Lorton, F. Mugneret, N. Monnie
J. Lunardi, L. Faivre, P. S. Jouk, C. Thauvin-Robinet.
1028T An unusual case of developmental delay with
plantar lipomatosis.
L. Diefendorf, J. Humberson.
1029T Deletion of
TWIST1
in a patient with Duane-
radial ray syndrome.
S. Jougheh Doust, J. So.
1030T Familial cosegregation of Coffin-Lowry
syndrome inherited from the mother and Waardenbu
type IV syndrome due to deletion of
EDNRB
inherite
from the father: A diagnostic odyssey.
Y. Lacassie, S.
Sampath.
1031T Genetics of Kabuki syndrome: MLL2 mutation
spectrum in 100 KS patients.
A. D. C. Paulussen, M.
Blok, C. E. van Roozendaal, D. Tserpelis, C. Posma-Vel
R. Vijzelaar, J. Schrander, Y. Detisch, C. T. R. M.
Schrander-Stumpel, A. P. A. Stegmann, H. J. Smeets.
1032T Noonan syndrome and other genetically relat
syndromes diagnosed by a custom multiplex mutati
panel (CGC Mutation Panel).
P. Tavares, A. Lopes, L.
Lameiras, L. Dias, J. Sá, P. Rendeiro, A. Palmeiro.
1033T Clinical and molecular analysis of patients wit
neurocardiofaciocutaneous syndromes fromTurkey.
O. S¸ ims¸ ek Kiper, Y. Alanay, B. Gülhan, C. Lissewski, D.
Türkyilmaz, D. Alehan, M. Çetin, G. E. Utine, M. Zenker,
Bodurog˘ lu.
1034T A novel point mutation in the STS gene in a
family with X-linked recessive ichthyosis.
R. Badilla-
Porras, L. Dupuis, R. Mendoza-Londono.
1035T Clinical course of Noonan-like syndrome with
loose anagen hair (NS/LAH, MIM 607721) in individu
carrying mutations of
SHOC2
.
D. Bartholdi, M. Lang-
Muritano, E. J. Schoenle, A. Schinzel, M. Zenker, A.
Rauch.