أوراق علمية منشورة في
الدوريات :
1.
Hussain MR, Al-Aama J, Shaik N, Asfour H. In silico analysis
of five single nucleotide polymorphisms (SNPs) in human PTPN11 and BRAF genes.
Journal of Molecular Modeling. Submitted for publication. MS# JMM-D-12-03340R1
2.
Jumana Y. Al-Aama, Bondagji
N, El-Harouni A. Congenital heart defects in down syndrome patients from
Western Region in Saudi Arabia: A prospective study. Saudi Med J 2012; Vol.
33(11): 179-183
3.
De Munnik SA, Otten B, Schoots J, Bicknell L, Aftimos S, Al-Aama J, Van
Bever Y, Bober M, Borm G, Smith J, et.al. Meier-Gorlin Syndrome: Growth and
secondary sexual development of a microcephalic primordial dwarfism disorder. Am
J Med Genet 2012. Nov;158A(11):2733-42
4.
Hussain MR, Shaik NA, Al-Aama J, Khan F, Masoodi TA. In
silico analysis of single nucleotide polymorphisms (SNPs) in human BRAF gene. Gene
J; Vol. 508(2): 188-196. Oct.25, 2012
5.
Jumana Y. Al-Aama, Ahmed,
Saleem. Cenani- Lenz Syndrome – like limb anomaly with more severe
involvement of left side. BMJ Case Reports bcr.01.2012.5634.R1, British Medical Journal 2012. doi:10.1136/bcr.01.2012.5634
6. Al-Sabban A, Ahmed S, Al-Aama
J. “The effectiveness and safety of thyroxine replacement therapy for
children with Down syndrome and subclinical or congenital hypothyroidism. A
systematic review” Health J 2012; Vol.4, 452-456
7. De Munnik SA, Bicknell LS, Al-Aama
J, Van Bever Y, Bober MB, et. al. “Meier-Gorlin syndrome
genotype-phenotype studies: 35 individuals with pre-replication complex gene
mutations and 10 without molecular diagnosis”. Eur J Hum Genet 2012;
Jun;20(6):598-606
8. Masoodi T, Talluri V, Shaik N, Al-Aama
J, Hasan Q. “ Functional genomics based prioritization of potential
non-synonymous SNP’s in EPHX1, GSTT1, GSTM1, and GSTP1 genes for breast cancer
susceptibility studies”. Genomics
2012; Vol. 99(6): 330-339
9. Omar I. Saadah, Al-Aama J,
Meshari A. Alaifan , Yaqoub Y. Bin Talib , Jamil A. Al-Mughales . “
Prevalence of celiac disease in children with Down syndrome screened by
anti-tissue transglutaminase“.Saudi Med J 2012; Vol. 33,208-210
10. Al-Aama J, Dabbagh A, Edrees A. A Newly Described Mutation of the CLCN7 Gene
Causes Neuropathic Autosomal Recessive Osteopetrosis in an Arab Family.
Clinical Dysmorphology 2011. vol 21(1): 1-7
11. Al-Owain M, Imtiaz F, Shuaib T,
Edrees A, Sakati N, Al-Hassnan Z, Bamashmous H, Faqeih E, Al-Hashem A, Garout
W, Al-Odaib A, Rashed M, Al-Aama J, Smith-Lemli-Opitz Syndrome among
Arabs. Clinical Genetics 2011. vol 82, (2): 165-172
12.Bicknell L, Bongers F, Leitch A,
Browb S, Schoots J, Harley M, Aftimos S, Al-Aama J, Bober M, Brown P,
Bokhoven H, Dean J, Edrees A. et. al. “Mutations in the pre-replication
complex cause Meier –Gorlin syndrome. Nature Genetics 2011. vol 43, (4):
356-359
13.Al-Aama J, Smith T, Lo A, Heather H, Kline A, Lange M, Kaput J,
Cotton R. Initiating a Human Variome Project Country Node. Human
Mutation Variation, Informatics, and Disease 2011, vol. 32 (5): 501-506
14.Patrinos G, Al-Aama J,
Al-Aqeel Aida, Al-Mulla F, Borg F, Devereux A, Felice A, Macrae F, Petersen M,
Qi M, Ramesar R, Zlotogora J, Cotton R. "Recommendations for genetic
variation data capture in developing countries to ensure a comprehensive
worldwide data collection". Human Mutation 2010, vol 31, 1-8
15.Povey S, Auerbach A, Barash C, Al
Aqeel A, Thompson A, Chadwick R, Dalgleish R, Dunnen J, Greenblatt M, Macrae F,
Patrinos G, Savige J, Al-Aama J, et. al. "Human Variome Project
3, Session 1-Ethics". Human Mutation 2010, vol 31(12)
16. Ramesar R, Al-Aama J. “Human
Variome Project 3, Session 8 –Country Specific Collection”. Human Mutation
2010, vol 31 (12)
17. Maija R.J, Kohonen-Corish, Al-Aama
J, Auerbach A, Axton M, Barach C, et.al. " How to Catch all those Mutations-The Report of the
Third Human Variome Project Meeting, UNESCO Paris, May 2010". Human
Mutation 2010 Dec. vol.31(12): 1374-1381
18. Jumana Y. Al-Aama. Attitudes towards mandatory national premarital
screening for hereditary hemolytic disorders. Health policy 97 (2010) 32-37
19. Hucthagowder V, Morava E, Kornak
U, Lefeber D, Fischer B, Dimopoulou A, Aldinger A, Choi J, Davis E, Abuelo D.
Adamowicz M, Al-Aama J, Vanagaite L, Fernandez B,
Greally M, Gillessen-Kaesbach G, Kayserili H, Lemyre E, Tekin
M, Turkmen S, Tuysuz B, Yuksel-Konuk B, Mundlos S, Maldergem L, Webers R, Urban Z.
"Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking,
tropoelastion secretion and cell survival"
Human Molecular Genetics, 2009,vol 15,18(12):2149.65
20. Kaput J, Cotton R, Hardman L,
Watson M, Al Aqeel A, Al-Aama J, Al-Mulla F, Aretz S, Auerbach A, Axton
M, Bapat B, Barash C. et. al. " Planning the Human Variome
Project: The Spain Report" Human Mutation. 2009; 30(4): 496 – 510
21. Jumana Y. Al-Aama, Baraa K. Al-Nabulsi, Mohammad A. Alyousef, Nawal A.
Asiri, Sawsan M. Al-Blewi. Knowledge
regarding the national premarital screening program among university students
in western Saudi Arabia. Saudi Med J.
2008 Nov;29(11):1649-53
22. Jumana Y. Al-Aama. Clinical Genetics: Practical Applications for
Dentists and Oral Surgeons. Saudi
Dental Journal 2008; 20(SI)-Abstr.064
23.
Adeel G. Chaudhary, Mohammed H. Alqahtani, Adel Abuzenadah, Mamdooh
Gari, Abeer A. Al- Sofyani, Jumana Y. Al-Aama, Sahira A. Lary,
Aisha H. Elaimi. Mutation analysis in Saudi Duchenne and Becker muscular
dystrophy patients using multiplex PCR. Arch Med Sci 2008; 4, 1: 16–21
24. Nadia
Fida, Jumana Al-Aama, Wafaa Nichols, Mohamed Alqahtani. A prospective
study of congenital malformations among liveborn neonates at a University
Hospital in Western Saudi Arabia. Saudi Medical Journal
2007; Vol. 28 (9): 1367-1373
25. Al-Aama
J. Correspondence re: Prevalence of factor V Leiden and
prothrombin G20210 A gene mutation.
Saudi Med J 2005; vol 26 (11): 447
26. Fida N, Al-Aama J. Pattern of Infant
Feeding at a University Hospital in Western Saudi Arabia;
Saudi Med J 2003; vol 24 (7): 725-729
27. Al-Aama J, Shaabat A. Status Epilepticus: Can the Incidence be
Reduced? Neurosciences 2002; Vol. 7 (4): 236-241
28. Al-Aama J, Saadi S. Testicular
Torsion: An Antenatal Event? Saudi J Obst Gynecol; July 2002, vol 2, No3, 153-15
الأبحاث المدعمة :
1. A Prospective Study of Congenital Anomalies
(Malformations) Among Live Born Neonates at King
Abdulaziz University Hospital.
Project no. 424/023. Co-investigator. February 2004 - June 29, 2005-
2. Deanship of Scientific Research, King Abdulaziz
University.
3. Genetic Disorders at King Abdulaziz
University Hospital:
Pattern of Distribution and Prospect for
4. Prevention. Project no. 427/023. Part1.
February 2007 – Nov. 22, 2007 Deanship of Scientific Research, King Abdullaziz University.
5. Genetic Disorders at King Abdulaziz
University Hospital:
Pattern of Distribution and Prospect for
6. Prevention. Project no. 427/023. Part 2. Nov
2007– July 20, 2008 Deanship of Scientific Research, King Abdullaziz University.
7. Clinical and Molecular
characteristics of Noonan Syndrome Among Arabs at King Abdulaziz University
8. Hospital. Project no. 8-MED112-3. 2008 – King Abdulaziz
City for Science and
Technology.
9.
Genetic basis of familial
cardiac arrhythmias Project no. 10-BIO1075-03 2010 - – King Abdulaziz
City for Science and
Technology .
الأبحاث العلمية الحالية:
°
دراسة لتحديد الصفات
الإكلينيكية والجزيئية للمصابين بمتلازمة نونان في العرب.
°
دراسة حالة متلازمة Meir-Gorlin syndrome و حالة متلازمة The
Cenani-Lenz syndrome
بالاضافة إلى حالة متلازمة Osteopetrosis
و Cutis Laxa وغيرها .
° دراسة امراض اضطرابات القلب الوراثية( Arythmias) .
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