Search Results - "Alowain, Mohammed"

Systemic lupus erythematosus in a girl with PTEN variant and transaldolase deficiency: a novel phenotype by Al-Mayouf, Sulaiman M., AlTassan, Ruqaiah S., AlOwain, Mohammed A.

“…Genetic defect of phosphatase and tensin homolog ( PTEN ) gene might play a role in B cell hyperactivity and result in the development of systemic lupus…”
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Katanin p80 Regulates Human Cortical Development by Limiting Centriole and Cilia Number by Hu, Wen F., Pomp, Oz, Ben-Omran, Tawfeg, Kodani, Andrew, Henke, Katrin, Mochida, Ganeshwaran H., Yu, Timothy W., Woodworth, Mollie B., Bonnard, Carine, Raj, Grace Selva, Tan, Thong Teck, Hamamy, Hanan, Masri, Amira, Shboul, Mohammad, Al Saffar, Muna, Partlow, Jennifer N., Al-Dosari, Mohammed, Alazami, Anas, Alowain, Mohammed, Alkuraya, Fowzan S., Reiter, Jeremy F., Harris, Matthew P., Reversade, Bruno, Walsh, Christopher A.

“…Katanin is a microtubule-severing complex whose catalytic activities are well characterized, but whose in vivo functions are incompletely understood. Human…”
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Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders by Alfadhel, Majid, Al Othaim, Ali, Al Saif, Saif, Al Mutairi, Fuad, Alsayed, Moeenaldeen, Rahbeeni, Zuhair, Alzaidan, Hamad, Alowain, Mohammed, Al‐Hassnan, Zuhair, Saeedi, Mohamad, Aljohery, Saeed, Alasmari, Ali, Faqeih, Eissa, Alwakeel, Mansour, AlMashary, Maher, Almohameed, Sulaiman, Alzahrani, Mohammed, Migdad, Abeer, Al‐Dirbashi, Osama Y, Rashed, Mohamed, Alamoudi, Mohamed, Jacob, Minnie, Alahaidib, Lujane, El‐Badaoui, Fahd, Saadallah, Amal, Alsulaiman, Ayman, Eyaid, Wafaa, Al‐Odaib, Ali

“…Aim To address the implementation of the National Newborn Screening Program (NBS) in Saudi Arabia and stratify the incidence of the screened disorders. Methods…”
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Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome by Wortmann, Saskia B, van Hasselt, Peter M, Barić, Ivo, Burlina, Alberto, Darin, Niklas, Hörster, Friederike, Coker, Mahmut, Ucar, Sema Kalkan, Krumina, Zita, Naess, Karin, Ngu, Lock H, Pronicka, Ewa, Riordan, Gilian, Santer, Rene, Wassmer, Evangeline, Zschocke, Johannes, Schiff, Manuel, de Meirleir, Linda, Alowain, Mohammed A, Smeitink, Jan A M, Morava, Eva, Kozicz, Tamas, Wevers, Ron A, Wolf, Nicole I, Willemsen, Michel A

“…Pediatric movement disorders are still a diagnostic challenge, as many patients remain without a (genetic) diagnosis. Magnetic resonance imaging (MRI) pattern…”
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A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families by 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

“…The genetic architecture of mitochondrial disease continues to expand and currently exceeds more than 350 disease-causing genes. Bi-allelic variants in , also…”
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The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients by Al-Hassnan, Zuhair N., Khalifa, Ola A., Bubshait, Dalal K., Tulbah, Sahar, Alkorashy, Maarab, Alzaidan, Hamad, Alowain, Mohammed, Rahbeeni, Zuhair, Al-Sayed, Moeen

“…Infantile-Onset Pompe Disease (IOPD) is an autosomal recessive disorder of glycogen metabolism resulting from deficiency of the lysosomal hydrolase acid…”
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ZNFX1 Deficiency in a Child with Interstitial Pneumonitis and Peripheral Monocytosis by Al-Saud, Bandar, Alshareef, Turki, Al-Alwan, Monther, Alazami, Anas M.

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LEPREL1-related Giant Retinal Tear Detachments Mimic the Phenotype of Ocular Stickler Syndrome by Magliyah, Moustafa S., AlMarek, Faisal, Nowilaty, Sawsan R., Al-Abdi, Lama, Alkuraya, Fowzan S, Alowain, Mohammed, Schatz, Patrik, Alfaadhel, Talal, Khan, Arif O., Alsulaiman, Sulaiman M.

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Clinical and molecular features of four families with CLDN10-related HELIX syndrome by Qudair, Ahmad, Hussein, Maged, Alowain, Mohammed, Al-Hassnan, Zuhair Nasser, Alfaifi, Abdullah, Alfalah, Abdullah, Al-Qahtani, Mashael, Alkuraya, Fowzan S

“…Biallelic pathogenic variants in CLDN10 cause the very rare and distinct multiplex epithelium dysfunction manifested by hypohidrosis and electrolyte imbalance…”
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LEPREL1 -RELATED GIANT RETINAL TEAR DETACHMENTS MIMIC THE PHENOTYPE OF OCULAR STICKLER SYNDROME by Magliyah, Moustafa S., Almarek, Faisal, Nowilaty, Sawsan R., Al-Abdi, Lama, Alkuraya, Fowzan S., Alowain, Mohammed, Schatz, Patrik, Alfaadhel, Talal, Khan, Arif O., Alsulaiman, Sulaiman M.

“…To describe the features of retinal detachments and high myopia in patients with novel pathogenic variants in LEPREL1 and report a possible association with…”
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Tectocerebellar dysraphia with occipital encephalocele: a phenotypic variant of the TMEM231 gene mutation induced Joubert syndrome by Nicolas-Jilwan, Manal, Al-Ahmari, Ahmed Nasser, Alowain, Mohammed Abdulaziz, Altuhaini, Khaled Saleh, Alshail, Essam Abdulaziz

“…There are few reported cases of tectocerebellar dysraphia with occipital encephalocele (TCD-OE) in the literature. This malformation was first described by…”
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A new association between CDK5RAP2 microcephaly and congenital cataracts by Alfares, Ahmed, Alhufayti, Ibtihal, Alsubaie, Lamia, Alowain, Mohammed, Almass, Rawan, Alfadhel, Majid, Kaya, Namik, Eyaid, Wafaa

“…Introduction Primary microcephaly type 3 is a genetically heterogeneous condition caused by a homozygous or compound heterozygous mutation in CDK5 regulatory…”
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Novel biallelic variants expand the phenotype of NAA20‐related syndrome by D'Onofrio, Gianluca, Cuccurullo, Claudia, Larsen, Silje Kathrine, Severino, Mariasavina, D'Amico, Alessandra, Brønstad, Kirsten, AlOwain, Mohammed, Morrison, Jennifer L., Wheeler, Patricia G., Webb, Bryn D., Alfalah, Abdullah, Iacomino, Michele, Uva, Paolo, Coppola, Antonietta, Merla, Giuseppe, Salpietro, Vincenzo Damiano, Zara, Federico, Striano, Pasquale, Accogli, Andrea, Arnesen, Thomas, Bilo, Leonilda

“…NAA20 is the catalytic subunit of the NatB complex, which is responsible for N‐terminal acetylation of approximately 20% of the human proteome. Recently,…”
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Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies by Patel, Nisha, Aldahmesh, Mohammed A., Alkuraya, Hisham, Anazi, Shamsa, Alsharif, Hadeel, Khan, Arif O., Sunker, Asma, Al-mohsen, Saleh, Abboud, Emad B., Nowilaty, Sawsan R., Alowain, Mohammed, Al-Zaidan, Hamad, Al-Saud, Bandar, Alasmari, Ali, Abdel-Salam, Ghada M.H., Abouelhoda, Mohamed, Abdulwahab, Firdous M., Ibrahim, Niema, Naim, Ewa, Al-Younes, Banan, E. AlMostafa, Abeer, AlIssa, Abdulelah, Hashem, Mais, Buzovetsky, Olga, Xiong, Yong, Monies, Dorota, Altassan, Nada, Shaheen, Ranad, Al-Hazzaa, Selwa A.F., Alkuraya, Fowzan S.

“…Retinal dystrophies (RD) are heterogeneous hereditary disorders of the retina that are usually progressive in nature. The aim of this study was to clinically…”
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Warsaw breakage syndrome: Further clinical and genetic delineation by Alkhunaizi, Ebba, Shaheen, Ranad, Bharti, Sanjay Kumar, Joseph‐George, Ann M., Chong, Karen, Abdel‐Salam, Ghada M. H., Alowain, Mohammed, Blaser, Susan I., Papsin, Blake C., Butt, Mohammed, Hashem, Mais, Martin, Nicole, Godoy, Ruth, Brosh, Robert M., Alkuraya, Fowzan S., Chitayat, David

“…Warsaw breakage syndrome (WBS) is a recently recognized DDX11‐related rare cohesinopathy, characterized by severe prenatal and postnatal growth restriction,…”
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Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract by Patel, Nisha, Anand, Deepti, Monies, Dorota, Maddirevula, Sateesh, Khan, Arif O., Algoufi, Talal, Alowain, Mohammed, Faqeih, Eissa, Alshammari, Muneera, Qudair, Ahmed, Alsharif, Hadeel, Aljubran, Fatimah, Alsaif, Hessa S., Ibrahim, Niema, Abdulwahab, Firdous M., Hashem, Mais, Alsedairy, Haifa, Aldahmesh, Mohammed A., Lachke, Salil A., Alkuraya, Fowzan S.

“…Pediatric cataract is highly heterogeneous clinically and etiologically. While mostly isolated, cataract can be part of many multisystem disorders, further…”
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A Novel Homozygous Founder Variant of IRTN4IP1/I in Two Consanguineous Saudi Families by 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

“…The genetic architecture of mitochondrial disease continues to expand and currently exceeds more than 350 disease-causing genes. Bi-allelic variants in…”
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Molecular characterization of retinitis pigmentosa in Saudi Arabia by Aldahmesh, Mohammed A, Safieh, Leen Abu, Alkuraya, Hisham, Al-Rajhi, Ali, Shamseldin, Hanan, Hashem, Mais, Alzahrani, Fatemah, Khan, Arif O, Alqahtani, Faisal, Rahbeeni, Zuhair, Alowain, Mohammed, Khalak, Hanif, Al-Hazzaa, Salwa, Meyer, Brian F, Alkuraya, Fowzan S

“…To catalog mutations that underlie retinitis pigmentosa (RP) in Saudi Arabia using a representative sample. Fifty-two patients with RP were recruited and their…”
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Optic neuropathy in classical methylmalonic acidemia by AlOwain, Mohammed, Khalifa, Ola Ali, Al Sahlawi, Zahra, Hussein, Maged H, Sulaiman, Raashda A, Al-Sayed, Moeen, Rahbeeni, Zuhair, Al-Hassnan, Zuhair, Al-Zaidan, Hamad, Nezzar, Hachemi, Al Homoud, Iftetah, Eldali, Abdelmoneim, Altonen, Brian, Handoom, Bedour S, Mbekeani, Joyce N

“…: Classical MMA, caused by methylmalonyl-CoA mutase deficiency, may result in late-onset dysfunction in several organ systems. To date, 10 cases of optic…”
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Validation of Ion Torrent TM Inherited Disease Panel with the PGM TM Sequencing Platform for Rapid and Comprehensive Mutation Detection by Mustafa, Abeer E, Faquih, Tariq, Baz, Batoul, Kattan, Rana, Al-Issa, Abdulelah, Tahir, Asma I, Imtiaz, Faiqa, Ramzan, Khushnooda, Al-Sayed, Moeenaldeen, Alowain, Mohammed, Al-Hassnan, Zuhair, Al-Zaidan, Hamad, Abouelhoda, Mohamed, Al-Mubarak, Bashayer R, Al Tassan, Nada A

“…Quick and accurate molecular testing is necessary for the better management of many inherited diseases. Recent technological advances in various next…”
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