Detailed genetic and clinical analysis of a novel de novo variant in HPRT1: Case report of a female patient from Saudi Arabia with Lesch–Nyhan syndrome

por AlBakheet, Albandary, AlQudairy, Hanan, Alkhalifah, Joud, Almoaily, Sheikhah, Kaya, Namik, Rahbeeni, Zuhair
Publicado 2023

Breast stromal fibroblasts from histologically normal surgical margins are pro-carcinogenic

por Al-Rakan, Maha A, Colak, Dilek, Hendrayani, Siti-Faujiah, Al-Bakheet, Albandary, Al-Mohanna, Falah H, Kaya, Namik, Al-Malik, Osama, Aboussekhra, Abdelilah
Publicado 2013

p16(INK4A) Positively Regulates Cyclin D1 and E2F1 through Negative Control of AUF1

por Al-Khalaf, Huda H., Colak, Dilek, Al-Saif, Maher, Al-Bakheet, Albandary, Hendrayani, Siti-Faujiah, Al-Yousef, Nujoud, Kaya, Namik, Khabar, Khalid S., Aboussekhra, Abdelilah
Publicado 2011

Global Transcriptional Profiling of Granulosa Cells from Polycystic Ovary Syndrome Patients: Comparative Analyses of Patients with or without History of Ovarian Hyperstimulation Sy...

por Daghestani, Maha H., Alqahtani, Huda A., AlBakheet, AlBandary, Al Deery, Mashael, Awartani, Khalid A., Daghestani, Mazin H., Kaya, Namik, Warsy, Arjumand, Coskun, Serdar, Colak, Dilek
Publicado 2022

Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15)

por Seidahmed, Mohammed Z., Hamad, Muddathir H., AlBakheet, Albandary, Elmalik, Salah A., AlDrees, Abdulmajeed, Al-Sufayan, Jumanah, Alorainy, Ibrahim, Ghozzi, Ibrahim M., Colak, Dilek, Salih, Mustafa A., Kaya, Namik
Publicado 2020

First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient

por Alsagob, Maysoon, Salih, Mustafa A., Hamad, Muddathir H. A., Al-Yafee, Yusra, Al-Zahrani, Jawaher, Al-Bakheet, Albandary, Nester, Michael, Sakati, Nadia, Wakil, Salma M., AlOdaib, Ali, Colak, Dilek, Kaya, Namik
Publicado 2019

Age-Specific Gene Expression Signatures for Breast Tumors and Cross-Species Conserved Potential Cancer Progression Markers in Young Women

por Colak, Dilek, Nofal, Asmaa, AlBakheet, AlBandary, Nirmal, Maimoona, Jeprel, Hatim, Eldali, Abdelmoneim, AL-Tweigeri, Taher, Tulbah, Asma, Ajarim, Dahish, Malik, Osama Al, Inan, Mehmet S., Kaya, Namik, Park, Ben H., Bin Amer, Suad M.
Publicado 2013

Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy

por Al-Owain, Mohammed, Kaya, Namik, Al-Zaidan, Hamad, Bin Hussain, Ibrahim, Al-Manea, Hadeel, Al-Hindi, Hindi, Kennedy, Shelley, Iqbal, M. Anwar, Al-Mojalli, Hamad, Al-Bakheet, Albandary, Puel, Anne, Casanova, Jean-Laurent, Al-Muhsen, Saleh
Publicado 2010

A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts

por Aldhalaan, Hesham, AlBakheet, Albandary, AlRuways, Sarah, AlMutairi, Nouf, AlNakiyah, Maha, AlGhofaili, Reema, Cardona-Londoño, Kelly J., Alahmadi, Khalid Omar, AlQudairy, Hanan, AlRasheed, Maha M., Colak, Dilek, Arold, Stefan T., Kaya, Namik
Publicado 2021

Clinical, radiological, and genetic characterization of SLC13A5 variants in Saudi families: Genotype phenotype correlation and brief review of the literature

por AlQudairy, Hanan, AlDhalaan, Hesham, AlRuways, Sarah, AlMutairi, Nouf, AlNakiyah, Maha, AlGhofaili, Reema, AlBakheet, Albandary, Alomrani, Adeeb, Alharbi, Omar A., Tous, Ehab, AlSayed, Moeen, AlZaidan, Hamad, AlRasheed, Maha M., AlOdaib, Ali, Kaya, Namik
Publicado 2023

SLC25A42‐associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion

por Aldosary, Mazhor, Baselm, Shahad, Abdulrahim, Maha, Almass, Rawan, Alsagob, Maysoon, AlMasseri, Zainab, Huma, Rozeena, AlQuait, Laila, Al‐Shidi, Tarfa, Al‐Obeid, Eman, AlBakheet, Albandary, Alahideb, Basma, Alahaidib, Lujane, Qari, Alya, Taylor, Robert W., Colak, Dilek, AlSayed, Moeenaldeen D., Kaya, Namik
Publicado 2021

A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families

por Aldosary, Mazhor, Alsagob, Maysoon, AlQudairy, Hanan, González-Álvarez, Ana C., Arold, Stefan T., Dababo, Mohammad Anas, Alharbi, Omar A., Almass, Rawan, AlBakheet, AlBandary, AlSarar, Dalia, Qari, Alya, Al-Ansari, Mysoon M., Oláhová, Monika, Al-Shahrani, Saif A., AlSayed, Moeenaldeen, Colak, Dilek, Taylor, Robert W., AlOwain, Mohammed, Kaya, Namik
Publicado 2022

Identification of novel genomic imbalances in Saudi patients with congenital heart disease

por Al-Hassnan, Zuhair N., Albawardi, Waad, Almutairi, Faten, AlMass, Rawan, AlBakheet, Albandary, Mustafa, Osama M., AlQuait, Laila, Shinwari, Zarghuna M. A., Wakil, Salma, Salih, Mustafa A., Al-Fayyadh, Majid, Hassan, Saeed M., Aljoufan, Mansour, Al-Nakhli, Osima, Levy, Brynn, AlMaarik, Balsam, Al-Hakami, Hana A., Alsagob, Maysoon, Colak, Dilek, Kaya, Namik
Publicado 2018

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

por Sanderson, Leslie E, Lanko, Kristina, Alsagob, Maysoon, Almass, Rawan, Al-Ahmadi, Nada, Najafi, Maryam, Al-Muhaizea, Mohammad A, Alzaidan, Hamad, AlDhalaan, Hesham, Perenthaler, Elena, van der Linde, Herma C, Nikoncuk, Anita, Kühn, Nikolas A, Antony, Dinu, Owaidah, Tarek Mustafa, Raskin, Salmo, Vieira, Luana Gabriela Dalla Rosa, Mombach, Romulo, Ahangari, Najmeh, Silveira, Tainá Regina Damaceno, Ameziane, Najim, Rolfs, Arndt, Alharbi, Aljohara, Sabbagh, Raghda M, AlAhmadi, Khalid, Alawam, Bashayer, Ghebeh, Hazem, AlHargan, Aljouhra, Albader, Anoud A, Binhumaid, Faisal S, Goljan, Ewa, Monies, Dorota, Mustafa, Osama M, Aldosary, Mazhor, AlBakheet, Albandary, Alyounes, Banan, Almutairi, Faten, Al-Odaib, Ali, Aksoy, Durdane Bekar, Basak, A Nazli, Palvadeau, Robin, Trabzuni, Daniah, Rosenfeld, Jill A, Karimiani, Ehsan Ghayoor, Meyer, Brian F, Karakas, Bedri, Al-Mohanna, Futwan, Arold, Stefan T, Colak, Dilek, Maroofian, Reza, Houlden, Henry, Bertoli-Avella, Aida M, Schmidts, Miriam, Barakat, Tahsin Stefan, van Ham, Tjakko J, Kaya, Namik
Publicado 2021