Research Publications - College of Medicine and Health Science

Articles in Peerreviewed
Journals
Abdulrazzaq YM, Nagelkerke N,
Moussa MA. (2011). UAE population
reference standard charts
for body mass index and skinfold
thickness, at ages 0-18 years. Int J
Food Sci Nutr, 62(7); 692-702.
Aburawi EH, Malcus P, Thuring
A, Fellman V, Pesonen E. (2011).
Coronary Flow in Neonates with
Impaired Intrauterine Growth.
J Am Soc Echocardiogr. [Epub
ahead of print].
Aburawi EH, Pesonen E. (2011).
Pathophysiology of coronary
blood flow in congenital heart
disease. Int J Cardiol, 151(3);273-7.
Akawi NA, Al-Gazali L, Ali BR.
(2011). Clinical and molecular
analysis of UAE Fibrochondrogenesis
patients expands the phenotype
and reveals two COL11A1
homozygous null mutations. Clin
Genetics; Epub ahead of print
Akawi NA, Ali BR, Hamamy H,
Al-Gazali L (2011). Is autosomal
recessive Silver-Russel syndrome
a separate entity or is it part of the
3-M spectrum. Am J Med Genet,155(6):1236-1245;
(Epub ahead
of print).
Al-Gazali (2011). Genome sequencing
anniversary. Human
Genome sequencing: celebrating
10 years. Science,18;331
Al Jasmi F, Harvey, Souid A. (2011).
The phosphorescence oxygen
analyzer as a screening tool for
disorders with impaired lymphocyte
bioenergetics. Molecular
Genetics and Metabolism, Dec
104(4):529-36.
Al Jasmi F. (2011). A Novel mutation
in an atypical presentation of
the rare infantile Farber disease.
Brain and Development. (Epub
ahead of print).
Ali BR, Ben-Rebeh I, John A, Akawi
NA, Milhem RM, Al-Shehhi NA,
Al-Ameri MM, Al-Shamisi SA,
Al-Gazali L (2011). Endoplasmic reticulum
quality control is involved
in the mechanism of endoglinmediated
hereditary haemorrhagic
telangiectasia. PLoS One,
6(10):e26206.
Ali BR, Hertecant J, Al-Jasmi F,
Hamdan M, Akawi NA, Al-Gazali L
(2011). New and known mutations
associated with Inborn Errors of
Metabolism are found in a heterogeneous
Middle Eastern population.
Saudi Med J; 32:353-359.
Ali BR, Hertecant J, Al-Jasmi F,
Hamdan MA, Akawi NA, Al-Gazali
L. (2011). Mutation analysis of
a spectrum of inborn error of
metabolism from the United Arab
Emirates. Saudi Medical Journal,
Apr;32(4):353-9
Alkuraya FS, Abu-Safieh L, Al-Abdi
L, Al-Anazil S, Hashem M, Alkuraya
H, Alamrol M, Al-Hassanan Z, Faqih
E, Zaidan H, Alkuraya B, Alsayed M,
Khan AO, Al-Gazali L, Al-Hazzaa S
(2011). In search of oligogenicity
in Bardet-Biedl syndrome. EJHG
(in press)
AlMahmoud R, Weitzman S, Ngan
B. and others. (2011). Peripheral
T-cell lymphoma in children and
adolescents: A single institution
experience. Pediatric Blood and
Cancer 56; 93.
Al-Salam S, Balhaj, G, Al-Hammadi
S, Sudhadevi M, Tariq S, Biradar AV,
Asefa T*, Souid A-K (2011). In Vitro
Study of Calcined Mesoporous Silica
Nanoparticles in Mouse Lung.
Toxicology Sciences;122:86-99.
Baasanjav S, Al-Gazali L,
Hashiguchi T, Mizumoto S, Fischer
B, Horn D, Seelow D, Ali BR, Aziz
SA, Langer R, Becker C, Nurnberg
G, Cantagrel V, Gleeson JG, Linder
TH, Nurnberg P, Sugahara K,
Mundlos S, Hoffmann K (2011).
Faulty initiation of proteoglycan
synthesis causes cardiac and
joint defects. Am J Hum Genet,
89;15-27
Basak RB, Al Dhahri JS, Narchi H,
Bakir M, Joshi S, Conca W. (2011).
Churg-strauss syndrome without
respiratory symptoms in a child.
Indian Journal of Dermatology; 56
(1), 84-86.
Begam MA, Al Safi W, Bekdache
GN, Chedid F, Al-Gazali L, Mirghani
H (2011). Stuve-Wiedemann
syndrome: a rare bone dysplasia
characterized by bent long bones.
Ultrasound Obstet Gynecol,
38(5);553-558.
Ben-Rebeh I, Hertecant JL, Al-Jasmi
FA, Aburawi HE, Al-Yahyaee SA,
Al-Gazali L, Ali BR (2011). Identification
of Mutations Underlying 20
Inborn Errors of Metabolism in the
United Arab Emirates Population.
Genet Test Mol Biomarkers. (Epub
ahead of print).
Bharwani S (2011). Gastroesophageal
Reflux Disease (GERD) in
Children: From Infancy to Adolescence.
Journal of Medical Sciences,
4(1);25-39.
Bharwani S, Shaukat Q, Balhaj G,
Ashari M (2011). A failing to thrive
18 month old with vitamin D deficiency
rickets and Helicobacter
pylori gastritis BMJ Case Reports,
doi:10.1136.
Bharwani S, Shaukat Q, Basak
R (2011). A 10-month-old with
rotavirus gastroenteritis, seizures,
anasarca and systemic inflammatory
response syndrome and complete
recovery BMJ Case Reports,
doi:10.1136.
De Carvalho PP, Thornton G, Hertecant
J, Houlden H, Nicholas AK,
Cox J, Reilly M, Al-Gazali L, Woods
CG. (2011). A novel NGF mutation
clarifies the molecular mechanism
and extends the phenotypic spectrum
of the HSAN5 neuropathy. J
Med Genet, 48(2);131-135.
Deng FM, Galvan K, de la Roza
G, Zhang S, Souid A-K, Stein CK
(2011). Molecular characterization
of an EWSR1-POU5F1 fusion associated
with a t(6;22) in an undifferentiated
soft tissue sarcoma.
Cancer Genetics;204:423-429.
Denic S, Souid A-K, Nagelkerke N,
Showqi S, Balhaj G (2011). Erythrocyte
Reference Values in Emirati
People with and without alpha+
Thalassemia. BMC Blood Disorders
2011, 11:1 - doi:10.1186/1471-
2326-11-1.
Department of Paediatrics
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