أوراق علمية منشورة

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)  .