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Showing 1 to 12 of 18 entries
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Genetic counselors' scope of practice and challenges in genetic counseling services in Saudi Arabia.

International journal of pediatrics & adolescent medicine

Balobaid A, Qari A, Al-Zaidan H.
PMID: 30805460
Int J Pediatr Adolesc Med. 2016 Mar;3(1):1-6. doi: 10.1016/j.ijpam.2015.12.002. Epub 2016 Jan 28.

Genetic counseling is an evolving field in Saudi Arabia. In 2015, genetic counseling was recognized as a Master's program by the Saudi Commission for Health Specialties. Our genetic counselors combine their knowledge of genetics, counseling theory and interpersonal communication...

Validation of Ion Torrent.

Genes

Mustafa AE, Faquih T, Baz B, Kattan R, Al-Issa A, Tahir AI, Imtiaz F, Ramzan K, Al-Sayed M, Alowain M, Al-Hassnan Z, Al-Zaidan H, Abouelhoda M, Al-Mubarak BR, Al Tassan NA.
PMID: 29789446
Genes (Basel). 2018 May 22;9(5). doi: 10.3390/genes9050267.

Quick and accurate molecular testing is necessary for the better management of many inherited diseases. Recent technological advances in various next generation sequencing (NGS) platforms, such as target panel-based sequencing, has enabled comprehensive, quick, and precise interrogation of many...

Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update.

Frontiers in genetics

Maddirevula S, Shamseldin HE, Sirr A, AlAbdi L, Lo RS, Ewida N, Al-Qahtani M, Hashem M, Abdulwahab F, Aboyousef O, Kaya N, Monies D, Salem MH, Al Harbi N, Aldhalaan HM, Alzaidan H, Almanea HM, Alsalamah AK, Al Mutairi F, Ismail S, Abdel-Salam GMH, Alhashem A, Asery A, Faqeih E, AlQassmi A, Al-Hamoudi W, Algoufi T, Shagrani M, Dudley AM, Alkuraya FS.
PMID: 33456446
Front Genet. 2020 Dec 31;11:580484. doi: 10.3389/fgene.2020.580484. eCollection 2020.

There is a growing interest in standardizing gene-disease associations for the purpose of facilitating the proper classification of variants in the context of Mendelian diseases. One key line of evidence is the independent observation of pathogenic variants in unrelated...

Correction: Prevalence of polypharmacy and the association with non-communicable diseases in Qatari elderly patients attending primary healthcare centers: A cross-sectional study.

PloS one

Al-Dahshan A, Al-Kubiasi N, Al-Zaidan M, Saeed W, Kehyayan V, Bougmiza I.
PMID: 32833972
PLoS One. 2020 Aug 24;15(8):e0238343. doi: 10.1371/journal.pone.0238343. eCollection 2020.

[This corrects the article DOI: 10.1371/journal.pone.0234386.].

Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia.

JIMD reports

Imtiaz F, Al-Mubarak BM, Al-Mostafa A, Al-Hamed M, Allam R, Al-Hassnan Z, Al-Owain M, Al-Zaidan H, Rahbeeni Z, Qari A, Faqeih EA, Alasmari A, Al-Mutairi F, Alfadhel M, Eyaid WM, Rashed MS, Al-Sayed M.
PMID: 26615597
JIMD Rep. 2016;29:39-46. doi: 10.1007/8904_2014_297. Epub 2015 Nov 29.

Defects in the human gene encoding methylmalonyl-CoA mutase enzyme (MCM) give rise to a rare autosomal recessive inherited disorder of propionate metabolism termed mut methylmalonic acidemia (MMA). Patients with mut MMA have been divided into two subgroups: mut

Anti-cancer effects of Tranilast: An update.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie

Osman S, Raza A, Al-Zaidan L, Inchakalody VP, Merhi M, Prabhu KS, Abdelaziz N, Hydrose S, Uddin S, Dermime S.
PMID: 34174504
Biomed Pharmacother. 2021 Sep;141:111844. doi: 10.1016/j.biopha.2021.111844. Epub 2021 Jun 24.

Tranilast (TRN) or (N-3,4 -dimethoxy cinnamoyl]-anthranilic acid) is an analog of a tryptophan metabolite and is identified mainly as an anti-allergic agent with limited side effects. The anti-cancer effects of tranilast either alone or in combination with chemotherapeutic drugs...

Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome.

American journal of medical genetics. Part A

Hildebrandt CC, Patel N, Graham JM, Bamshad M, Nickerson DA, White JJ, Marvin CT, Miller DE, Grand KL, Sanchez-Lara PA, Schweitzer D, Al-Zaidan HI, Al Masseri Z, Alkuraya FS, Lin AE.
PMID: 33783941
Am J Med Genet A. 2021 Jul;185(7):2136-2149. doi: 10.1002/ajmg.a.62194. Epub 2021 Mar 30.

Van den Ende-Gupta syndrome (VDEGS) is a rare autosomal recessive condition characterized by distinctive facial and skeletal features, and in most affected persons, by biallelic pathogenic variants in SCARF2. We review the type and frequency of the clinical features...

The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.

Journal of molecular medicine (Berlin, Germany)

Averdunk L, Sticht H, Surowy H, Lüdecke HJ, Koch-Hogrebe M, Alsaif HS, Kahrizi K, Alzaidan H, Alawam BS, Tohary M, Kraus C, Endele S, Wadman E, Kaplan JD, Efthymiou S, Najmabadi H, Reis A, Alkuraya FS, Wieczorek D.
PMID: 34536092
J Mol Med (Berl). 2021 Dec;99(12):1755-1768. doi: 10.1007/s00109-021-02124-9. Epub 2021 Sep 18.

Pathogenic variants in aminoacyl-tRNA synthetases (ARS1) cause a diverse spectrum of autosomal recessive disorders. Tyrosyl tRNA synthetase (TyrRS) is encoded by YARS1 (cytosolic, OMIM*603,623) and is responsible of coupling tyrosine to its specific tRNA. Next to the enzymatic domain,...

Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia.

Molecular genetics and metabolism reports

Al-Hamed MH, Imtiaz F, Al-Hassnan Z, Al-Owain M, Al-Zaidan H, Alamoudi MS, Faqeih E, Alfadhel M, Al-Asmari A, Saleh MM, Almutairi F, Moghrabi N, AlSayed M.
PMID: 30705822
Mol Genet Metab Rep. 2019 Jan 09;18:22-29. doi: 10.1016/j.ymgmr.2018.12.004. eCollection 2019 Mar.

Propionic acidemia (PA) is an autosomal recessive metabolic disorder. PA is characterized by deficiency of the mitochondrial enzyme propionyl CoA carboxylase (PCC) that results in the accumulation of propionic acid. Alpha and beta subunits of the PCC enzyme are...

Hemophagocytic lymphohistiocytosis: A rare cause of recurrent encephalopathy.

Intractable & rare diseases research

Sulaiman RA, Shaheen MY, Al-Zaidan H, Al-Hassnan Z, Al-Sayed M, Rahbeeni Z, Bakshi NA, Kaya N, Aldosary M, Al-Owain M.
PMID: 27672548
Intractable Rare Dis Res. 2016 Aug;5(3):227-30. doi: 10.5582/irdr.2016.01018.

We report an unusual case of recurrent encephalopathy due to acquired hemophagocytic lymphohistiocytosis (HLH) in a patient with propionic acidemia (PA). PA is an inherited metabolic disorder in which patients often present with encephalopathy and pancytopenia during metabolic decompensation....

Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.

Journal of molecular medicine (Berlin, Germany)

Averdunk L, Sticht H, Surowy H, Lüdecke HJ, Koch-Hogrebe M, Alsaif HS, Kahrizi K, Alzaidan H, Alawam BS, Tohary M, Kraus C, Endele S, Wadman E, Kaplan JD, Efthymiou S, Najmabadi H, Reis A, Alkuraya FS, Wieczorek D.
PMID: 34661688
J Mol Med (Berl). 2021 Dec;99(12):1769-1770. doi: 10.1007/s00109-021-02153-4.

No abstract available.

Qatar's Primary Health Care Medication Home Delivery Service: A Response Toward COVID-19.

Journal of multidisciplinary healthcare

Al-Zaidan M, Mohamed Ibrahim MI, Al-Kuwari MG, Mohammed AM, Nawaz Mohammed M, Al Abdulla S.
PMID: 33762825
J Multidiscip Healthc. 2021 Mar 17;14:651-657. doi: 10.2147/JMDH.S282079. eCollection 2021.

The COVID-19 pandemic has strained health care systems around the world. Pharmacists have made substantial contributions to the health care operations during the COVID-19 response. The Pharmacy Department at Qatar Primary Health Care Corporation (PHCC) acted proactively to ensure...

Showing 1 to 12 of 18 entries