Search Results - "Al Abdulkareem, Ibrahim"

Differential Gene Expression in Peripheral White Blood Cells with Permissive Underfeeding and Standard Feeding in Critically Ill Patients: A Descriptive Sub-study of the PermiT Randomized Controlled Trial by Arabi, Yaseen M., Al-Balwi, Mohammed, Hajeer, Ali H., Jawdat, Dunia, Sadat, Musharaf, Al-Dorzi, Hasan M., Tamim, Hani, Afesh, Lara, Almashaqbeh, Walid, Alkadi, Haitham, Alwadaani, Deemah, UdayaRaja, G. K., Abdulkareem, Ibrahim B. Al, Al-Dawood, Abdulaziz

“…The effect of short-term caloric restriction on gene expression in critically ill patients has not been studied. In this sub-study of the PermiT trial…”
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Spinal muscular atrophy carrier frequency in Saudi Arabia by Al Jumah, Mohammed, Al Rajeh, Saad, Eyaid, Wafaa, Al‐Jedai, Ahmed, Al Mudaiheem, Hajar, Al Shehri, Ali, Hussein, Mohammed, Al Abdulkareem, Ibrahim

“…Background Spinal Muscular Dystrophy (SMA) is one of the leading causes of death in infants and young children from heritable diseases. Although no large‐scale…”
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Genome-wide association study of chronic hepatitis B virus infection reveals a novel candidate risk allele on 11q22.3 by Al-Qahtani, Ahmed, Khalak, Hanif G, Alkuraya, Fowzan S, Al-hamoudi, Waleed, Al-hamoudy, Waleed, Alswat, Khalid, Al Balwi, Mohammed A, Al Abdulkareem, Ibrahim, Sanai, Faisal M, Abdo, Ayman A

“…Hepatitis B virus (HBV) affects millions of people worldwide. While some people are able to clear the virus following the first encounter, those who develop…”
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Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia by Tesson, Christelle, Nawara, Magdalena, Salih, Mustafa A.M., Rossignol, Rodrigue, Zaki, Maha S., Al Balwi, Mohammed, Schule, Rebecca, Mignot, Cyril, Obre, Emilie, Bouhouche, Ahmed, Santorelli, Filippo M., Durand, Christelle M., Oteyza, Andrés Caballero, El-Hachimi, Khalid H., Al Drees, Abdulmajeed, Bouslam, Naima, Lamari, Foudil, Elmalik, Salah A., Kabiraj, Mohammad M., Seidahmed, Mohammed Z., Esteves, Typhaine, Gaussen, Marion, Monin, Marie-Lorraine, Gyapay, Gabor, Lechner, Doris, Gonzalez, Michael, Depienne, Christel, Mochel, Fanny, Lavie, Julie, Schols, Ludger, Lacombe, Didier, Yahyaoui, Mohamed, Al Abdulkareem, Ibrahim, Zuchner, Stephan, Yamashita, Atsushi, Benomar, Ali, Goizet, Cyril, Durr, Alexandra, Gleeson, Joseph G., Darios, Frederic, Brice, Alexis, Stevanin, Giovanni

“…Hereditary spastic paraplegia (HSP) is considered one of the most heterogeneous groups of neurological disorders, both clinically and genetically. The disease…”
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A novel homozygous missense mutation (c.610G>A, p.Gly204Ser) in the WNT7A gene causes tetra‐amelia in two Saudi families by Eyaid, Wafaa, Al‐Qattan, Mohammad M., Al Abdulkareem, Ibrahim, Fetaini, Nouf, Al Balwi, Mohammed

“…Fuhrmann syndrome and Al‐Awadi/Raas‐Rothschild/Schinzel (AA/RRS) phocomelia syndrome are rare autosomal recessive inherited disorders characterized by…”
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Novel human pathological mutations. Gene symbol: MAN2B1. Disease: Mannosidosis, alpha by Al Balwi, Mohammed, Waffa, Eyaid, Ibrahim, Al-Abdulkareem

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Monomeric C-reactive protein and Notch-3 co-operatively increase angiogenesis through PI3K signalling pathway by Boras, Emhamed, Slevin, Mark, Alexander, M. Yvonne, Aljohi, Ali, Gilmore, William, Ashworth, Jason, Krupinski, Jerzy, Potempa, Lawrence A., Al Abdulkareem, Ibrahim, Elobeid, Adila, Matou-Nasri, Sabine

“…•Monomeric CRP up-regulates endothelial Notch-3 receptor gene expression.•mCRP and Notch3 activator cooperatively stimulate angiogenesis through PI3K…”
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A novel mutation in the SHH long‐range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency by Al‐Qattan, Mohammad M., Al Abdulkareem, Ibrahim, Al Haidan, Yazied, Al Balwi, Mohammed

“…Sonic Hedgehog (SHH) within the posteriorly located zone of polarizing activity is the main controller of the antero‐posterior axis of limb development. The…”
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Clinical characteristics and genetic subtypes of fanconi anemia in saudi patients by Ghazwani, Yahya, AlBalwi, Mohammed, Al-Abdulkareem, Ibrahim, Al-Dress, Mohammed, Alharbi, Talal, Alsudairy, Reem, Alomari, Ali, Aljamaan, Khalid, Essa, Mohammed, Al-Zahrani, Mohsen, Alsultan, Abdulrahman

“…Abstract We reviewed our institutional experience from 2011-2014 on new cases of Fanconi anemia (FA). Ten unrelated cases were diagnosed during this period…”
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Novel human pathological mutations. Gene symbol: EDAR. Disease: Ectodermal dysplasia, hypohidrotic by Al Balwi, Mohammed, Ibrahim, Al Abdulkareem, Abdulrahman, Al Swaid

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Novel human pathological mutations by Mohammed, Al Balwi, Wafaa, Eyaid, Ibrahim, Al Abdulkareem

“…The online version of the original article can be found under doi: 10.1007/s00439-009-0642-9…”
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Homozygous R396H mutation of the RAG1 gene in a Saudi infant with Omenn's syndrome: a case report by Al Balwi, Mohammed, Al Ajaji, Sulaiman, Al Abdulkareem, Ibrahim, Hajeer, Ali

“…Introduction The V(D)J rearrangement of B and T cell lymphocytes during the recombination process, which is essential for the development of normal immune…”
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Homozygous R396H mutation of the RAG1 gene in a Saudi infant with Omenn's syndrome: a case report by Al Balwi, Mohammed, Al Ajaji, Sulaiman, Al Abdulkareem, Ibrahim, Hajeer, Ali

“…The V(D)J rearrangement of B and T cell lymphocytes during the recombination process, which is essential for the development of normal immune system function,…”
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A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency by Al-Qattan, Mohammad M., Al Abdulkareem, Ibrahim, Al Haidan, Yazied, Al Balwi, Mohammed

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A novel homozygous missense mutation (c.610G>A, p.Gly204Ser) in the WNT7A gene causes tetra-amelia in two Saudi families by Eyaid, Wafaa, Al-Qattan, Mohammad M., Al Abdulkareem, Ibrahim, Fetaini, Nouf, Al Balwi, Mohammed

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Homozygous R396H mutation of the RAG1 gene in a Saudi infant with Omenn's syndrome: a case report by Al Balwi, Mohammed, Al Ajaji, Sulaiman, Al Abdulkareem, Ibrahim, Hajeer, Ali

“…INTRODUCTIONThe V(D)J rearrangement of B and T cell lymphocytes during the recombination process, which is essential for the development of normal immune…”
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