Specialty Grand Challenge - Genetic Disorders

by Jumana Y Al-Aama
Published 2013-11-01

A Novel Homozygous Frameshift Mutation in CCN6 Causing Progressive Pseudorheumatoid Dysplasia (PPRD) in a Consanguineous Yemeni Family

by Nagwa E. A. Gaboon, Asia Parveen, Asia Parveen, Ahmed El Beheiry, Jumana Y. Al-Aama, Jumana Y. Al-Aama, Mosab S. Alsaedi, Naveed Wasif, Naveed Wasif, Naveed Wasif
Published 2019-06-01

A Novel Homozygous Frameshift Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients

by Nagwa E. A. Gaboon, Asia Parveen, Asia Parveen, Khaled A. Ahmad, Taghreed Shuaib, Jumana Y. Al-Aama, Jumana Y. Al-Aama, Lereen Abdelwehab, Amina Arif, Naveed Wasif, Naveed Wasif, Naveed Wasif
Published 2020-07-01

Effect of Ramadan fasting in Saudi Arabia on serum bone profile and immunoglobulins

by Suhard M. Bahijri, Ghada M. Ajabnoor, Anwar Borai, Jumana Y. Al-Aama, George P. Chrousos
Published 2015-10-01

Health impact of fasting in Saudi Arabia during Ramadan: association with disturbed circadian rhythm and metabolic and sleeping patterns.

by Ghada M Ajabnoor, Suhad Bahijri, Anwar Borai, Altaf A Abdulkhaliq, Jumana Y Al-Aama, George P Chrousos
Published 2014-01-01

Ramadan fasting in Saudi Arabia is associated with altered expression of CLOCK, DUSP and IL-1alpha genes, as well as changes in cardiometabolic risk factors.

by Ghada M A Ajabnoor, Suhad Bahijri, Noor Ahmad Shaik, Anwar Borai, Aliaa A Alamoudi, Jumana Y Al-Aama, George P Chrousos
Published 2017-01-01

Saudi Familial Hypercholesterolemia Patients With Rare LDLR Stop Gain Variant Showed Variable Clinical Phenotype and Resistance to Multiple Drug Regimen

by Zuhier Ahmed Awan, Zuhier Ahmed Awan, Omran M. Rashidi, Omran M. Rashidi, Omran M. Rashidi, Bandar Ali Al-Shehri, Bandar Ali Al-Shehri, Kaiser Jamil, Ramu Elango, Ramu Elango, Jumana Y. Al-Aama, Jumana Y. Al-Aama, Robert A. Hegele, Babajan Banaganapalli, Babajan Banaganapalli, Noor A. Shaik, Noor A. Shaik
Published 2021-06-01

Identification of a Rare Exon 19 Skipping Mutation in ALMS1 Gene in Alström Syndrome Patients From Two Unrelated Saudi Families

by Omar I. Saadah, Omar I. Saadah, Babajan Banaganapalli, Babajan Banaganapalli, Naglaa M. Kamal, Naglaa M. Kamal, Ahmed N. Sahly, Ahmed N. Sahly, Hadeel A. Alsufyani, Arif Mohammed, Aftab Ahmad, Khalidah Khalid Nasser, Khalidah Khalid Nasser, Jumana Y. Al-Aama, Jumana Y. Al-Aama, Noor Ahmad Shaik, Noor Ahmad Shaik, Ramu Elango, Ramu Elango
Published 2021-04-01

Whole exome sequencing identifies rare biallelic ALMS1 missense and stop gain mutations in familial Alström syndrome patients

by Naglaa M. Kamal, Ahmed N. Sahly, Babajan Banaganapalli, Omran M. Rashidi, Preetha J. Shetty, Jumana Y. Al-Aama, Noor A. Shaik, Ramu Elango, Omar I. Saadah
Published 2020-01-01

Modulation of doxorubicin-induced expression of the multidrug resistance gene in breast cancer cells by diltiazem and protection against cardiotoxicity in experimental animals

by Hamdan S. Al-malky, Abdel-Moneim M. Osman, Zoheir A. Damanhouri, Huda M. Alkreathy, Jumana Y. Al Aama, Wafaa S. Ramadan, Ali A. Al Qahtani, Hadiah B. Al Mahdi
Published 2019-07-01

Replication of GWAS Coding SNPs Implicates MMEL1 as a Potential Susceptibility Locus among Saudi Arabian Celiac Disease Patients

by Omar I. Saadah, Noor Ahmad Shaik, Babajan Banaganapalli, Mohammed A. Salama, Sameer E. Al-Harthi, Jun Wang, Harbi A. Shawoosh, Sharifa A. Alghamdi, Yagoub Y. Bin-Taleb, Bakr H. Alhussaini, Ramu Elango, Jumana Y. Al-Aama
Published 2015-01-01

Exome sequencing and metabolomic analysis of a chronic kidney disease and hearing loss patient family revealed RMND1 mutation induced sphingolipid metabolism defects

by Nagwa E.A. Gaboon, Babajan Banaganapalli, Khalidah Nasser, Mohammed Razeeth, Mosab S. Alsaedi, Omran M. Rashidi, Lereen S. Abdelwehab, Turki Saad Alahmadi, Osama Y. Safdar, Jilani Shaik, Hani M.Z. Choudhry, Huda Husain Al-numan, Mohammad Imran Khan, Jumana Y. Al-Aama, Ramu Elango, Noor A. Shaik
Published 2020-01-01

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

by Tobias Eisenberger, Christine Neuhaus, Arif O Khan, Christian Decker, Markus N Preising, Christoph Friedburg, Anika Bieg, Martin Gliem, Peter Charbel Issa, Frank G Holz, Shahid M Baig, Yorck Hellenbroich, Alberto Galvez, Konrad Platzer, Bernd Wollnik, Nadja Laddach, Saeed Reza Ghaffari, Maryam Rafati, Elke Botzenhart, Sigrid Tinschert, Doris Börger, Axel Bohring, Julia Schreml, Stefani Körtge-Jung, Chayim Schell-Apacik, Khadijah Bakur, Jumana Y Al-Aama, Teresa Neuhann, Peter Herkenrath, Gudrun Nürnberg, Peter Nürnberg, John S Davis, Andreas Gal, Carsten Bergmann, Birgit Lorenz, Hanno J Bolz
Published 2013-01-01