Specialty Grand Challenge – Genetic Disorders

por Al-Aama, Jumana Y.
Publicado 2013

Congenital Long QT Syndrome: An Update and Present Perspective in Saudi Arabia

por Bhuiyan, Zahurul A., Al-Shahrani, Safar, Al-Aama, Jumana, Wilde, Arthur A. M., Momenah, Tarek S.
Publicado 2013

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

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

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

por Gaboon, Nagwa E. A., Parveen, Asia, El Beheiry, Ahmed, Al-Aama, Jumana Y., Alsaedi, Mosab S., Wasif, Naveed
Publicado 2019

Generating inner ear organoids containing putative cochlear hair cells from human pluripotent stem cells

por Jeong, Minjin, O’Reilly, Molly, Kirkwood, Nerissa K., Al-Aama, Jumana, Lako, Majlinda, Kros, Corné J., Armstrong, Lyle
Publicado 2018

Genome-Wide Association Study-Guided Exome Rare Variant Burden Analysis Identifies IL1R1 and CD3E as Potential Autoimmunity Risk Genes for Celiac Disease

por Mansour, Haifa, Banaganapalli, Babajan, Nasser, Khalidah Khalid, Al-Aama, Jumana Yousuf, Shaik, Noor Ahmad, Saadah, Omar Ibrahim, Elango, Ramu
Publicado 2022

Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family

por Rahman, Obaid Ur, Khawar, Nadeem, Khan, Muhammad Aman, Ahmed, Jawad, Khattak, Kamran, Al-Aama, Jumana Yousuf, Naeem, Muhammad, Jelani, Musharraf
Publicado 2013

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

por Ajabnoor, Ghada M. A., Bahijri, Suhad, Shaik, Noor Ahmad, Borai, Anwar, Alamoudi, Aliaa A., Al-Aama, Jumana Y., Chrousos, George P.
Publicado 2017

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

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

Truncating mutation in intracellular phospholipase A(1) gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54)

por Alrayes, Nuha, Mohamoud, Hussein Sheikh Ali, Jelani, Musharraf, Ahmad, Saleem, Vadgama, Nirmal, Bakur, Khadijah, Simpson, Michael, Al-Aama, Jumana Yousuf, Nasir, Jamal
Publicado 2015

A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features

por Mohamoud, Hussein Sheikh, Ahmed, Saleem, Jelani, Musharraf, Alrayes, Nuha, Childs, Kay, Vadgama, Nirmal, Almramhi, Mona Mohammad, Al-Aama, Jumana Yousuf, Goodbourn, Steve, Nasir, Jamal
Publicado 2018

Exome Analysis Identifies a Novel Compound Heterozygous Alteration in TGM1 Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation

por Alallasi, Sami Raja, Kokandi, Amal A., Banagnapali, Babajan, Shaik, Noor Ahmad, Al-Shehri, Bandar Ali, Alrayes, Nuha Mohammad, Al-Aama, Jumana Yousuf, Jelani, Musharraf
Publicado 2019

Pre-mRNA Processing Factors and Retinitis Pigmentosa: RNA Splicing and Beyond

por Yang, Chunbo, Georgiou, Maria, Atkinson, Robert, Collin, Joseph, Al-Aama, Jumana, Nagaraja-Grellscheid, Sushma, Johnson, Colin, Ali, Robin, Armstrong, Lyle, Mozaffari-Jovin, Sina, Lako, Majlinda
Publicado 2021

BRAF gene: From human cancers to developmental syndromes

por Hussain, Muhammad Ramzan Manwar, Baig, Mukhtiar, Mohamoud, Hussein Sheik Ali, Ulhaq, Zaheer, Hoessli, Daniel C., Khogeer, Ghaidaa Siraj, Al-Sayed, Ranem Radwan, Al-Aama, Jumana Yousuf
Publicado 2015

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

por 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.
Publicado 2020

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

por 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.
Publicado 2021

Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon–Lefevre syndrome in a Saudi family

por Alkhiary, Yaser Mohammad, Jelani, Musharraf, Almramhi, Mona Mohammad, Mohamoud, Hussein Sheikh Ali, Al-Rehaili, Rayan, Al-Zahrani, Hams Saeed, Serafi, Rehab, Yang, Huanming, Al-Aama, Jumana Yousuf
Publicado 2016

The mitochondrial protein CHCHD2 primes the differentiation potential of human induced pluripotent stem cells to neuroectodermal lineages

por Zhu, Lili, Gomez-Duran, Aurora, Saretzki, Gabriele, Jin, Shibo, Tilgner, Katarzyna, Melguizo-Sanchis, Dario, Anyfantis, Georgios, Al-Aama, Jumana, Vallier, Ludovic, Chinnery, Patrick, Lako, Majlinda, Armstrong, Lyle
Publicado 2016

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

por 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.
Publicado 2019

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

por 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
Publicado 2019