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JOURNAL of PEDIATRIC
GENETICS
Official Journal of the
World
Society of Child Science, Turkiye
Journal of Pediatric Genetics is affiliated with
Hungarian Society for Human
Genetics
J Pediatr Genet 2012: Volume 1: Number 2
EDITORIAL
M.S. Faith
Electronic
medical records, genetics, and childhood obesity: A new
direction for scientific discovery?
REVIEW
ARTICLES
M.T.
Gabbett
The
oculoauriculovertebral spectrum: refining the estimate of
birth prevalence
B.S. Shastry
Pharmacogenomics and its importance in pediatric medicine
ORIGINAL
ARTICLES
K. Wang,
H. Zhang, F.D. Mentch, J.P. Bradfield, J.T. Glessner, H. Qiu,
Y. Guo, C. Hou, E.C. Frackelton, K. Thomas, A. Bender, A.
Albano, G. Otieno, M. Garris, K. Seidler, A. Moy, C.E. Kim,
B. Keating, R.M. Chiavacci, R. Grundmeier, P.A. Sleiman,
S.F.A. Grant and H. Hakonarson
Examination
of genetic variants influencing lipid traits in pediatric
populations
A.
Patitucci, A. Magariello, C. Ungaro,
M. Muglia, F.L. Conforti, A.L. Gabriele, L.
Citrigno, W. Sproviero and R. Mazzei
SMN1
gene copy number analyses for SMA healthy carriers in
Italian population
A.R.
Morgan, J. Thompson, K.E. Waldie, C.M. Cornforth, D. Turic,
E.J.S. Sonuga-Barke, W. Lam, L.R. Ferguson and E.A. Mitchell
Initial
evidence that polymorphisms in neurotransmitter-regulating
genes contribute to being born small for gestational age
F.M.
Hantash, B.T. Wang, R. Owen, L.P. Ross, L.W. Mahon, F.Z.
Boyar, A.L. Anguiano and C.M. Strom
Inherited
and de novo 22q11.2 distal duplications in two
patients with autistic features, speech delay and no
dysmorphology
CASE
REPORTS
L.A.
Flore, E. Leon, T.A. Maher and J.M. Milunsky
RASA1
analysis guides management in a family with capillary
malformation-arteriovenous malformation
A. Mimbacas, G.
Vitarella, J. Souto, A.L. Reyes, J. Farias, M. Fernández, M.
Fabregat and G. Javiel
The phenotype masks
the genotype: a possible new diabetes expression
L. Cohen, J.
Samanich, Q. Pan, L. Mehta and R. Marion
17q12 deletion in a
patient with Williams syndrome: Case report and review of
the literature
T.
Eggermann, S. Spengler, U. Gamerdinger, B. Denecke, S.
Grimm, M. Grimm, R. Schubert and G. Schwanitz
Duplication 3q13.11q23: longitudinal study in
a patient over a period of more than 7 yr and refinements of
the breakpoints |
