Specialty Grand Challenge – Genetic Disorders

מאת Al-Aama, Jumana Y.
יצא לאור 2013

Attitude toward Prenatal Testing and Termination of Pregnancy among Health Professionals and Medical Students in Saudi Arabia

מאת A. Gaboon, Nagwa E., Bakur, Khadijah H., Edrees, Alaa Y., Al-Aama, Jumana Y.
הוצא לאור ב J Pediatr Genet (2017)

Erratum: Attitude toward Prenatal Testing and Termination of Pregnancy among Health Professionals and Medical Students in Saudi Arabia

מאת Gaboon, Nagwa E. A., Bakur, Khadijah H., Edrees, Alaa Y., Al-Aama, Jumana Y.
הוצא לאור ב J Pediatr Genet (2017)

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

מאת Bahijri, Suhard M., Ajabnoor, Ghada M., Borai, Anwar, Al-Aama, Jumana Y., Chrousos, George P.
הוצא לאור ב Ther Adv Endocrinol Metab (2015)

Health Impact of Fasting in Saudi Arabia during Ramadan: Association with Disturbed Circadian Rhythm and Metabolic and Sleeping Patterns

מאת Ajabnoor, Ghada M., Bahijri, Suhad, Borai, Anwar, Abdulkhaliq, Altaf A., Al-Aama, Jumana Y., Chrousos, George P.
יצא לאור 2014

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

מאת Gaboon, Nagwa E. A., Parveen, Asia, El Beheiry, Ahmed, Al-Aama, Jumana Y., Alsaedi, Mosab S., Wasif, Naveed
הוצא לאור ב Front Pediatr (2019)

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

מאת Ajabnoor, Ghada M. A., Bahijri, Suhad, Shaik, Noor Ahmad, Borai, Anwar, Alamoudi, Aliaa A., Al-Aama, Jumana Y., Chrousos, George P.
הוצא לאור ב PLoS One (2017)

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

מאת Gaboon, Nagwa E. A., Parveen, Asia, Ahmad, Khaled A., Shuaib, Taghreed, Al-Aama, Jumana Y., Abdelwehab, Lereen, Arif, Amina, Wasif, Naveed
הוצא לאור ב Front Pediatr (2020)

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

מאת Kamal, Naglaa M., Sahly, Ahmed N., Banaganapalli, Babajan, Rashidi, Omran M., Shetty, Preetha J., Al-Aama, Jumana Y., Shaik, Noor A., Elango, Ramu, Saadah, Omar I.
הוצא לאור ב Saudi J Biol Sci (2020)

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

מאת Awan, Zuhier Ahmed, Rashidi, Omran M., Al-Shehri, Bandar Ali, Jamil, Kaiser, Elango, Ramu, Al-Aama, Jumana Y., Hegele, Robert A., Banaganapalli, Babajan, Shaik, Noor A.
הוצא לאור ב Front Med (Lausanne) (2021)

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

מאת Al-malky, Hamdan S., Osman, Abdel-Moneim M., Damanhouri, Zoheir A., Alkreathy, Huda M., Al Aama, Jumana Y., Ramadan, Wafaa S., Al Qahtani, Ali A., Al Mahdi, Hadiah B.
הוצא לאור ב Cancer Cell Int (2019)

Detection of Secondary Metabolites as Biomarkers for the Early Diagnosis and Prevention of Type 2 Diabetes

מאת Al-Aama, Jumana Y, Al Mahdi, Hadiah B, Salama, Mohammed A, Bakur, Khadija H, Alhozali, Amani, Mosli, Hala H, Bahijri, Suhad M, Bahieldin, Ahmed, Willmitzer, Lothar, Edris, Sherif
הוצא לאור ב Diabetes Metab Syndr Obes (2019)

Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia

מאת Bdier, Amnah Y., Al‐Ghamdi, Saleh, Verma, Prashant K., Dagriri, Khalid, Alshehri, Bandar, Jiman, Omamah A., Ahmed, Sherif E., Wilde, Arthur A. M., Bhuiyan, Zahurul A., Al‐Aama, Jumana Y.
הוצא לאור ב Mol Genet Genomic Med (2017)

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

מאת Saadah, Omar I., Banaganapalli, Babajan, Kamal, Naglaa M., Sahly, Ahmed N., Alsufyani, Hadeel A., Mohammed, Arif, Ahmad, Aftab, Nasser, Khalidah Khalid, Al-Aama, Jumana Y., Shaik, Noor Ahmad, Elango, Ramu
הוצא לאור ב Front Pediatr (2021)

Birth prevalence of non-syndromic orofacial clefts in Saudi Arabia and the effects of parental consanguinity

מאת Sabbagh, Heba J., Innes, Nicola P., Sallout, Bahauddin I., Alamoudi, Najlaa M., Hamdan, Mustafa A., Alhamlan, Nasir, Al-Khozami, Amaal I., Abdulhameed, Fatma D., Al-Aama, Jumana Y., Mossey, Peter A.
הוצא לאור ב Saudi Med J (2015)

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

מאת Saadah, Omar I., Shaik, Noor Ahmad, Banaganapalli, Babajan, Salama, Mohammed A., Al-Harthi, Sameer E., Wang, Jun, Shawoosh, Harbi A., Alghamdi, Sharifa A., Bin-Taleb, Yagoub Y., Alhussaini, Bakr H., Elango, Ramu, Al-Aama, Jumana Y.
הוצא לאור ב Dis Markers (2015)

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

מאת Gaboon, Nagwa E.A., Banaganapalli, Babajan, Nasser, Khalidah, Razeeth, Mohammed, Alsaedi, Mosab S., Rashidi, Omran M., Abdelwehab, Lereen S., Alahmadi, Turki Saad, Safdar, Osama Y., Shaik, Jilani, Choudhry, Hani M.Z., Al-numan, Huda Husain, Khan, Mohammad Imran, Al-Aama, Jumana Y., Elango, Ramu, Shaik, Noor A.
הוצא לאור ב Saudi J Biol Sci (2020)

Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly

מאת Jerber, Julie, Zaki, Maha S., Al-Aama, Jumana Y., Rosti, Rasim Ozgur, Ben-Omran, Tawfeg, Dikoglu, Esra, Silhavy, Jennifer L., Caglar, Caner, Musaev, Damir, Albrecht, Beate, Campbell, Kevin P., Willer, Tobias, Almuriekhi, Mariam, Çağlayan, Ahmet Okay, Vajsar, Jiri, Bilgüvar, Kaya, Ogur, Gonul, Abou Jamra, Rami, Günel, Murat, Gleeson, Joseph G.
הוצא לאור ב Am J Hum Genet (2016)

Genetic Mosaicism in Calmodulinopathy

מאת Wren, Lisa M., Jiménez-Jáimez, Juan, Al-Ghamdi, Saleh, Al-Aama, Jumana Y., Bdeir, Amnah, Al-Hassnan, Zuhair N., Kuan, Jyn L., Foo, Roger Y., Potet, Franck, Johnson, Christopher N., Aziz, Miriam C., Carvill, Gemma L., Kaski, Juan-Pablo, Crotti, Lia, Perin, Francesca, Monserrat, Lorenzo, Burridge, Paul W., Schwartz, Peter J., Chazin, Walter J., Bhuiyan, Zahurul A., George, Alfred L.
הוצא לאור ב Circ Genom Precis Med (2019)

How to Catch All Those Mutations—The Report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010

מאת Kohonen-Corish, Maija R.J., Al-Aama, Jumana Y., Auerbach, Arleen D., Axton, Myles, Barash, Carol Isaacson, Bernstein, Inge, Béroud, Christophe, Burn, John, Cunningham, Fiona, Cutting, Garry R., den Dunnen, Johan T., Greenblatt, Marc S., Kaput, Jim, Katz, Michael, Lindblom, Annika, Macrae, Finlay, Maglott, Donna, Möslein, Gabriela, Povey, Sue, Ramesar, Raj, Richards, Sue, Seminara, Daniela, Sobrido, María-Jesús, Tavtigian, Sean, Taylor, Graham, Vihinen, Mauno, Winship, Ingrid, Cotton, Richard G.H.
יצא לאור 2010