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954F Birth prevalence rates of osteochondrodysplasias
in South America: An epidemiologic study in a large
population.
C. O. B. Buck, I. M. Orioli, E. E. Castilla, J. S.
Lopez-Camelo, M. G. Dutra, D. P. Cavalcanti.
955F Molecular study of Iranian patients affected with
dystrophic epidermolysis bullosa.
M. Mahdavi, N.
Hatamnejad, B. Sedaghati Khayat, S. Abadpour, A. Yasari
Mazandarani, S. Matoo, A. Tavakoli Tameh, A. Ebrahimi.
956F A de novo microduplication at 2q24.3 including
SCN2A
and
SCN3A
but not
SCN1A
in a patient with
severe epilepsy and profound hypotonia.
M. N.
Strecker, M. Chadehumbe, G. Parsons, P. Mark, S. Gunn,
K. Hovanes.
957F Molecular analysis in hypotonic infants detects
high incidence of genetic diseases.
N. Najera, J. Perez,
E. Barragan, N. Garibay, T. Martinez, L. Gonzalez, G.
Queipo.
958F Analysis of 11q22.2-q22.3 chromosomal region
for genetic linkage in families with class III
malocclusion from Brazil and Colombia.
J. Hartsfield, J.
Turner, G. Falcao-Alencar, L. Otero, R. Cruz, L. Morford,
D. Fardo, S. de Oliveira, T. Kluemper.
959F PRRX1 is mutated in an otocephalic newborn
infant conceived by consanguineous parents.
D.
Kamnasaran, P. O. Simsek.
960F Fragile X syndrome screening in Korean women
of reproductive age.
M. Kim, D. Kim, J. Yang, H. Ryu, S.
Park.
961F Intragenic and interspecific alignment of fibrillin-
1’s calcium-binding EGF-like domains reveals
clinically-relevant sequence constraints and improves
Marfan syndrome mutation assessment.
B. A. Salisbury,
T. E. Callis, L. R. Susswein, J. L. Carr, E. W. Johnson.
962F FCGR2A, JAK2 or HNF4A variants are associated
with ulcerative colitis susceptibility in Koreans.
M.
Hong, H. Kim, Y. Jung, S. Yang, K. Song.
963F Different penetrance in cases of dystrophin
deletion.
C. Trujillo, M. K. Alwasiyah.
964F A novel mutation in the gene LEMD3 in a patient
with subclinical osteopoikilosis.
A. R. Couto, S.
Meneses, M. Soares, J. P. Pinheiro, J. Bruges-Armas.
965F Absence of
NPY2R
in saliva predicts successful
oral feeding in premature neonates.
J. L. Maron, J. A.
Dietz, M. L. Chen, K. L. Johnson, D. W. Bianchi.
966F mutations of connexin genes 26(GJB2) and
30(GJB6) in a Peruvian deaf population.
R. D. Chacon,
R. Badillo, M. R. Cornejo, O. Ortega, V. Marca, R. J.
Descailleaux, J. A. Rubio, P. E. Mazzetti.
Friday Poster Authors are reminded to remove posters from the boards at 4:00 pm.
The Exhibit Hall will close at 4:30 pm.
967F Molecular analysis of Indian patients with Rett
syndrome: Identification of mutations and genotype-
phenotype correlation.
D. K. Das, D. A. Sanghavi, R.
Adhia, V. Udani, A. Maitra.
968F A panel of genetic tests identifies causative
mutation in around 40% of patients affected by
bilateral syndromic and non-syndromic congenital li
malformations.
A. Jamsheer, A. Sowinska, A. Latos-
Bielenska.
969F UGT1A1 is a major locus influencing bilirubin
levels in African Americans.
G. Chen, E. Ramos, A.
Adeyemo, D. Shriner, J. Zhou, A. Doumatey, H. Huang,
Gerry, A. Herbert, A. Beneley, H. Xu, B. Charles, M.
Christman, C. Rotimi.
970F A genome-wide association analysis for
pathological myopia in Japanese.
I. Nakata, K.
Yamashiro, H. Nakanishi, H. Hayashi, Y. Kurashige, M.
Miyake, A. Tsujikawa, M. Moriyama, K. Ohno-Matsui, M
Mochizuki, Q. Fan, X. Zhou, J. L. Xuan, S. M. Saw, T.
Kawaguchi, R. Yamada, F. Matsuda, N. Yoshimura.
971F Genetic modifiers of the 22q11 microdeletion
syndrome: Preliminary results of a GWA study.
G. M.
Repetto, S. McGhee, M. L. Guzman, N. McLennan, M.
Palomares, M. Vasquez, G. Lay-Son, A. Ziegler.
972F Pathogenic CNVs and causative genes detecte
by two-stage screening in 647 patients with mental
retardation and multiple congenital anomalies of
unknown etiology.
S. Hayashi, I. Imoto, Y. Makita, A.
Hata, J. Inazawa.
973F Study of SLC29A3 gene in Rosai-Dorfman
histiocytosis associated with hearing impairment.
S.
Marlin, L. Jonard, V. Couloigner, S. Pierrot, M. Louha, B
Neven, S. Gherbi, R. Couderc, A. Fischer, E. N.
Garabedian, F. Denoyelle.
974F Correlation between CFTR mutation and the C
phenotypes.
R. Sebro, H. Levy.
975F A patient with hemihypoplasia, normal growth
and
H19
hypomethylation.
L. Zhang, L. Cohen, L.
Konczal.
976F Fetal hemoglobin production cannot be induce
by
β
-thalassemia/hemoglobin E disease caused by
novel 1-bp insertion mutation at codon 35 of
HBB
gene.
O. Trachoo, P. Niparuck, S. Pingsuthiwong, K.
Srichan, T. Sura, B. Phakdeekitcharoen.
977F A novel 5-bp deletion in clarin 1 in a family wit
Usher syndrome.
E. Akoury, E. Elie El-Zir, A. Mansour,
Megarbané, J. Majewski, R. Slim.
978F Evidence of DLL1 as a susceptibility locus in
Indian visceral leishmaniasis.
S. Mehrotra, M. Fakiola,
Mishra, P. Tiwari, M. Sudarshan, S. Jamieson, D. Selvi
Rani, S. Sundar, J. M. Blackwell.