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Items: 1 to 50 of 160

1.

Diversified lineages and drug-resistance profiles of clinical isolates of Mycobacterium tuberculosis complex in Malaysia.

Noorizhab Fakhruzzaman MN, Abidin NZ, Aziz ZA, Lim WF, Richard JJ, Noorliza MN, Hani MH, Norhayati R, Zamzurina AB, Farida Zuraina MY, Hisyam MJ, Teh LK, Norazmi MN, Zaki MS.

Int J Mycobacteriol. 2019 Oct-Dec;8(4):320-328. doi: 10.4103/ijmy.ijmy_144_19.

2.

Bilateral Calcification of Basal Ganglia in a Patient with Duplication of Both 11q13.1q22.1 and 4q35.2 with New Phenotypic Features.

Zaki MS, Eid OM, Eid MM, Mohamed AM, Sayed ISM, Abdel-Hamid MS, Abdel-Salam GMH.

Cytogenet Genome Res. 2019;159(3):130-136. doi: 10.1159/000504075. Epub 2019 Nov 13.

PMID:
31715598
3.

Vitamin E protects against monosodium glutamate-induced acute liver injury and hepatocyte ultrastructural alterations in rats.

Eid RA, Al-Shraim M, Zaki MS, Kamar SS, Abdel Latif NS, Negm S, Al-Ani B, Haidara MA.

Ultrastruct Pathol. 2019;43(4-5):199-208. doi: 10.1080/01913123.2019.1673860. Epub 2019 Oct 10.

PMID:
31599191
4.

The potential impact of COMT gene variants on dopamine regulation and phenotypic traits of ASD patients.

Esmaiel NN, Ashaat EA, Mosaad R, Fayez A, Ibrahim M, Abdallah ZY, Issa MY, Salem S, Ramadan A, El Wakeel MA, Ashaat NA, Zaki MS, Ismail S.

Behav Brain Res. 2020 Jan 27;378:112272. doi: 10.1016/j.bbr.2019.112272. Epub 2019 Oct 3.

PMID:
31586564
5.

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.

Lee S, Chen DY, Zaki MS, Maroofian R, Houlden H, Di Donato N, Abdin D, Morsy H, Mirzaa GM, Dobyns WB, McEvoy-Venneri J, Stanley V, James KN, Mancini GMS, Schot R, Kalayci T, Altunoglu U, Karimiani EG, Brick L, Kozenko M, Jamshidi Y, Manzini MC, Beiraghi Toosi M, Gleeson JG.

Am J Hum Genet. 2019 Oct 3;105(4):844-853. doi: 10.1016/j.ajhg.2019.08.013.

PMID:
31585108
6.

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.

Magini P, Smits DJ, Vandervore L, Schot R, Columbaro M, Kasteleijn E, van der Ent M, Palombo F, Lequin MH, Dremmen M, de Wit MCY, Severino M, Divizia MT, Striano P, Ordonez-Herrera N, Alhashem A, Al Fares A, Al Ghamdi M, Rolfs A, Bauer P, Demmers J, Verheijen FW, Wilke M, van Slegtenhorst M, van der Spek PJ, Seri M, Jansen AC, Stottmann RW, Hufnagel RB, Hopkin RJ, Aljeaid D, Wiszniewski W, Gawlinski P, Laure-Kamionowska M, Alkuraya FS, Akleh H, Stanley V, Musaev D, Gleeson JG, Zaki MS, Brunetti-Pierri N, Cappuccio G, Davidov B, Basel-Salmon L, Bazak L, Shahar NR, Bertoli-Avella A, Mirzaa GM, Dobyns WB, Pippucci T, Fornerod M, Mancini GMS.

Am J Hum Genet. 2019 Oct 3;105(4):689-705. doi: 10.1016/j.ajhg.2019.08.006. Epub 2019 Sep 5.

PMID:
31495489
7.

Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.

van Karnebeek CDM, Ramos RJ, Wen XY, Tarailo-Graovac M, Gleeson JG, Skrypnyk C, Brand-Arzamendi K, Karbassi F, Issa MY, van der Lee R, Drögemöller BI, Koster J, Rousseau J, Campeau PM, Wang Y, Cao F, Li M, Ruiter J, Ciapaite J, Kluijtmans LAJ, Willemsen MAAP, Jans JJ, Ross CJ, Wintjes LT, Rodenburg RJ, Huigen MCDG, Jia Z, Waterham HR, Wasserman WW, Wanders RJA, Verhoeven-Duif NM, Zaki MS, Wevers RA.

Am J Hum Genet. 2019 Sep 5;105(3):534-548. doi: 10.1016/j.ajhg.2019.07.015. Epub 2019 Aug 15.

PMID:
31422819
8.

Chronic consumption of a high-fat diet rich in corn oil activates intrinsic cell death pathway and induces several ultrastructural changes in the atria of healthy and type 1 diabetic rat.

Eid RA, Eleawa SM, Alkhateeb MA, Aldera H, Zaki MSA, Al-Shraim M, Saeed MA, El-Kott AF, Alaa Eldeen M, Alassiri M, Alshehri MM, Salem Al-Shudiefat AA, Khalil MA.

Clin Exp Pharmacol Physiol. 2019 Dec;46(12):1111-1123. doi: 10.1111/1440-1681.13158. Epub 2019 Sep 10.

PMID:
31398260
9.

A high-fat diet rich in corn oil induces cardiac fibrosis in rats by activating JAK2/STAT3 and subsequent activation of ANG II/TGF-1β/Smad3 pathway: The role of ROS and IL-6 trans-signaling.

Eid RA, Alkhateeb MA, El-Kott AF, Eleawa SM, Zaki MSA, Alaboodi SA, Salem Al-Shudiefat AA, Aldera H, Alnamar NM, Alassiri M, Khalil MA.

J Food Biochem. 2019 Aug;43(8):e12952. doi: 10.1111/jfbc.12952. Epub 2019 Jun 20.

PMID:
31368573
10.

Phenotypic and mutational spectrum of thirty-five patients with Sjögren-Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects.

Abdel-Hamid MS, Issa MY, Elbendary HM, Abdel-Ghafar SF, Rafaat K, Hosny H, Girgis M, Abdel-Salam GMH, Zaki MS.

J Hum Genet. 2019 Sep;64(9):859-865. doi: 10.1038/s10038-019-0637-x. Epub 2019 Jul 5.

PMID:
31273323
11.

Study of C677T variant of methylene tetrahydrofolate reductase gene in autistic spectrum disorder Egyptian children.

Ismail S, Senna AA, Behiry EG, Ashaat EA, Zaki MS, Ashaat NA, Salah DM.

Am J Med Genet B Neuropsychiatr Genet. 2019 Jul;180(5):305-309. doi: 10.1002/ajmg.b.32729. Epub 2019 Apr 29.

PMID:
31033224
12.

Fas/FasL-mediated cell death in rat's diabetic hearts involves activation of calcineurin/NFAT4 and is potentiated by a high-fat diet rich in corn oil.

Eid RA, Alkhateeb MA, Eleawa SM, Zaki MSA, El-Kott AF, El-Sayed F, Otifi H, Alqahtani S, Asiri ZA, Aldera H.

J Nutr Biochem. 2019 Jun;68:79-90. doi: 10.1016/j.jnutbio.2019.03.007. Epub 2019 Mar 28.

PMID:
31030170
13.

Ascorbic acid derivative-loaded modified aspasomes: formulation, in vitro, ex vivo and clinical evaluation for melasma treatment.

Aboul-Einien MH, Kandil SM, Abdou EM, Diab HM, Zaki MSE.

J Liposome Res. 2019 Mar 1:1-14. doi: 10.1080/08982104.2019.1585448. [Epub ahead of print]

PMID:
30821553
14.

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy.

Estañ MC, Fernández-Núñez E, Zaki MS, Esteban MI, Donkervoort S, Hawkins C, Caparros-Martin JA, Saade D, Hu Y, Bolduc V, Chao KR, Nevado J, Lamuedra A, Largo R, Herrero-Beaumont G, Regadera J, Hernandez-Chico C, Tizzano EF, Martinez-Glez V, Carvajal JJ, Zong R, Nelson DL, Otaify GA, Temtamy S, Aglan M, Issa M, Bönnemann CG, Lapunzina P, Yoon G, Ruiz-Perez VL.

Nat Commun. 2019 Feb 15;10(1):797. doi: 10.1038/s41467-019-08548-9.

15.

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy.

Friedman J, Smith DE, Issa MY, Stanley V, Wang R, Mendes MI, Wright MS, Wigby K, Hildreth A, Crawford JR, Koehler AE, Chowdhury S, Nahas S, Zhai L, Xu Z, Lo WS, James KN, Musaev D, Accogli A, Guerrero K, Tran LT, Omar TEI, Ben-Omran T, Dimmock D, Kingsmore SF, Salomons GS, Zaki MS, Bernard G, Gleeson JG.

Nat Commun. 2019 Feb 12;10(1):707. doi: 10.1038/s41467-018-07067-3.

16.

Clinical, biomarker and genetic spectrum of Niemann-Pick type C in Egypt: The detection of nine novel NPC1 mutations.

Mahmoud IG, Elmonem MA, Elkhateeb NM, Elnaggar W, Sobhi A, Girgis MY, Kamel M, Shaheen Y, Samaha M, Ramadan A, Zaki MS, El-Hawary B, Hassan SA, Khalifa IA, Mossad F, Al-Menabawy NM, Zielke S, Gleeson JG, Rolfs A, Selim LA.

Clin Genet. 2019 Apr;95(4):537-539. doi: 10.1111/cge.13492. Epub 2019 Jan 11. No abstract available.

PMID:
30633340
17.

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.

Pant DC, Dorboz I, Schluter A, Fourcade S, Launay N, Joya J, Aguilera-Albesa S, Yoldi ME, Casasnovas C, Willis MJ, Ruiz M, Ville D, Lesca G, Siquier-Pernet K, Desguerre I, Yan H, Wang J, Burmeister M, Brady L, Tarnopolsky M, Cornet C, Rubbini D, Terriente J, James KN, Musaev D, Zaki MS, Patterson MC, Lanpher BC, Klee EW, Pinto E Vairo F, Wohler E, Sobreira NLM, Cohen JS, Maroofian R, Galehdari H, Mazaheri N, Shariati G, Colleaux L, Rodriguez D, Gleeson JG, Pujades C, Fatemi A, Boespflug-Tanguy O, Pujol A.

J Clin Invest. 2019 Mar 1;129(3):1240-1256. doi: 10.1172/JCI123959. Epub 2019 Feb 11.

18.

GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion.

Abdel-Hamid MS, Ismail S, Zaki MS, Abdel-Salam GMH, Otaify GA, Issa MY, Abdel-Kader M, Girgis M, Aboul-Ezz E, Mazen I, Aglan MS, Temtamy SA.

Am J Med Genet A. 2019 Feb;179(2):237-242. doi: 10.1002/ajmg.a.61021. Epub 2018 Dec 21.

PMID:
30575274
19.

Cytogenomic characterization of 1q43q44 deletion associated with 4q32.1q35.2 duplication and phenotype correlation.

Mohamed AM, El-Bassyouni HT, El-Gerzawy AM, Hammad SA, Helmy NA, Kamel AK, Ismail SI, Issa MY, Eid O, Zaki MS.

Mol Cytogenet. 2018 Nov 6;11:57. doi: 10.1186/s13039-018-0406-0. eCollection 2018.

20.

Acylated ghrelin protects aorta damage post-MI via activation of eNOS and inhibition of angiotensin-converting enzyme induced activation of NAD(P)H-dependent oxidase.

Eid RA, El-Kott AF, Zaki MSA, Eldeen MA, Al-Hashem FH, Alkhateeb MA, Alassiri M, Aldera H.

Ultrastruct Pathol. 2018 Sep-Oct;42(5):416-429. doi: 10.1080/01913123.2018.1526242. Epub 2018 Oct 9.

PMID:
30300044
21.

Unbalanced 14;X Translocation and Pattern of X Inactivation in a Female Patient with Multiple Congenital Anomalies.

Mohamed AM, Zaki MS, Kamel AK, Issa MY, Mekkawy M, Safwat P, Mazen I.

Cytogenet Genome Res. 2018 Sep 29. doi: 10.1159/000492546. [Epub ahead of print]

PMID:
30273929
22.

Genomic and phenotypic delineation of congenital microcephaly.

Shaheen R, Maddirevula S, Ewida N, Alsahli S, Abdel-Salam GMH, Zaki MS, Tala SA, Alhashem A, Softah A, Al-Owain M, Alazami AM, Abadel B, Patel N, Al-Sheddi T, Alomar R, Alobeid E, Ibrahim N, Hashem M, Abdulwahab F, Hamad M, Tabarki B, Alwadei AH, Alhazzani F, Bashiri FA, Kentab A, Şahintürk S, Sherr E, Fregeau B, Sogati S, Alshahwan SAM, Alkhalifi S, Alhumaidi Z, Temtamy S, Aglan M, Otaify G, Girisha KM, Tulbah M, Seidahmed MZ, Salih MA, Abouelhoda M, Momin AA, Saffar MA, Partlow JN, Arold ST, Faqeih E, Walsh C, Alkuraya FS.

Genet Med. 2019 Mar;21(3):545-552. doi: 10.1038/s41436-018-0140-3. Epub 2018 Sep 14.

PMID:
30214071
23.

New approach to differentiate primary from latent Toxoplasma gondii abortion through immunoglobulin and DNA interpretation.

Barakat AMA, Ahmed SO, Zaki MS, El Fadaly HA, Abd El-Razik KA, El-Hariri HM, Johar D.

Microb Pathog. 2018 Dec;125:66-71. doi: 10.1016/j.micpath.2018.09.001. Epub 2018 Sep 3.

PMID:
30189233
24.

Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.

Guemez-Gamboa A, Çağlayan AO, Stanley V, Gregor A, Zaki MS, Saleem SN, Musaev D, McEvoy-Venneri J, Belandres D, Akizu N, Silhavy JL, Schroth J, Rosti RO, Copeland B, Lewis SM, Fang R, Issa MY, Per H, Gumus H, Bayram AK, Kumandas S, Akgumus GT, Erson-Omay EZ, Yasuno K, Bilguvar K, Heimer G, Pillar N, Shomron N, Weissglas-Volkov D, Porat Y, Einhorn Y, Gabriel S, Ben-Zeev B, Gunel M, Gleeson JG.

Ann Neurol. 2018 Nov;84(5):638-647. doi: 10.1002/ana.25327. Epub 2018 Oct 4.

25.

Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).

Bramswig NC, Bertoli-Avella AM, Albrecht B, Al Aqeel AI, Alhashem A, Al-Sannaa N, Bah M, Bröhl K, Depienne C, Dorison N, Doummar D, Ehmke N, Elbendary HM, Gorokhova S, Héron D, Horn D, James K, Keren B, Kuechler A, Ismail S, Issa MY, Marey I, Mayer M, McEvoy-Venneri J, Megarbane A, Mignot C, Mohamed S, Nava C, Philip N, Ravix C, Rolfs A, Sadek AA, Segebrecht L, Stanley V, Trautman C, Valence S, Villard L, Wieland T, Engels H, Strom TM, Zaki MS, Gleeson JG, Lüdecke HJ, Bauer P, Wieczorek D.

Hum Genet. 2018 Sep;137(9):753-768. doi: 10.1007/s00439-018-1929-5. Epub 2018 Aug 23.

26.

Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome.

Breuss MW, Nguyen A, Song Q, Nguyen T, Stanley V, James KN, Musaev D, Chai G, Wirth SA, Anzenberg P, George RD, Johansen A, Ali S, Zia-Ur-Rehman M, Sultan T, Zaki MS, Gleeson JG.

Am J Hum Genet. 2018 Aug 2;103(2):296-304. doi: 10.1016/j.ajhg.2018.06.011. Epub 2018 Jul 19.

27.

Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.

Schaffer AE, Breuss MW, Caglayan AO, Al-Sanaa N, Al-Abdulwahed HY, Kaymakçalan H, Yılmaz C, Zaki MS, Rosti RO, Copeland B, Baek ST, Musaev D, Scott EC, Ben-Omran T, Kariminejad A, Kayserili H, Mojahedi F, Kara M, Cai N, Silhavy JL, Elsharif S, Fenercioglu E, Barshop BA, Kara B, Wang R, Stanley V, James KN, Nachnani R, Kalur A, Megahed H, Incecik F, Danda S, Alanay Y, Faqeih E, Melikishvili G, Mansour L, Miller I, Sukhudyan B, Chelly J, Dobyns WB, Bilguvar K, Jamra RA, Gunel M, Gleeson JG.

Nat Genet. 2018 Aug;50(8):1093-1101. doi: 10.1038/s41588-018-0166-0. Epub 2018 Jul 16.

28.

Genetic study of eight Egyptian patients with pycnodysostosis: identification of novel CTSK mutations and founder effect.

Otaify GA, Abdel-Hamid MS, Mehrez MI, Aboul-Ezz E, Zaki MS, Aglan MS, Temtamy SA.

Osteoporos Int. 2018 Aug;29(8):1833-1841. doi: 10.1007/s00198-018-4555-0. Epub 2018 May 23.

PMID:
29796728
29.

Identification of a novel homozygous ALX4 mutation in two unrelated patients with frontonasal dysplasia type-2.

El-Ruby M, El-Din Fayez A, El-Dessouky SH, Aglan MS, Mazen I, Ismail N, Afifi HH, Eid MM, Mostafa MI, Mehrez MI, Khalil Y, Zaki MS, Gaber KR, Abdel-Hamid MS, Abdel-Salam GMH.

Am J Med Genet A. 2018 May;176(5):1190-1194. doi: 10.1002/ajmg.a.38655.

PMID:
29681084
30.

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.

Di Donato N, Timms AE, Aldinger KA, Mirzaa GM, Bennett JT, Collins S, Olds C, Mei D, Chiari S, Carvill G, Myers CT, Rivière JB, Zaki MS; University of Washington Center for Mendelian Genomics, Gleeson JG, Rump A, Conti V, Parrini E, Ross ME, Ledbetter DH, Guerrini R, Dobyns WB.

Genet Med. 2018 Nov;20(11):1354-1364. doi: 10.1038/gim.2018.8. Epub 2018 Apr 19.

31.

Subacute ghrelin administration inhibits apoptosis and improves ultrastructural abnormalities in remote myocardium post-myocardial infarction.

Eid RA, Zaki MSA, Al-Shraim M, Eleawa SM, El-Kott AF, Al-Hashem FH, Eldeen MA, Ibrahim H, Aldera H, Alkhateeb MA.

Biomed Pharmacother. 2018 May;101:920-928. doi: 10.1016/j.biopha.2018.03.010. Epub 2018 Mar 22.

PMID:
29635901
32.

Expanding the phenome and variome of skeletal dysplasia.

Maddirevula S, Alsahli S, Alhabeeb L, Patel N, Alzahrani F, Shamseldin HE, Anazi S, Ewida N, Alsaif HS, Mohamed JY, Alazami AM, Ibrahim N, Abdulwahab F, Hashem M, Abouelhoda M, Monies D, Al Tassan N, Alshammari M, Alsagheir A, Seidahmed MZ, Sogati S, Aglan MS, Hamad MH, Salih MA, Hamed AA, Alhashmi N, Nabil A, Alfadli F, Abdel-Salam GMH, Alkuraya H, Peitee WO, Keng WT, Qasem A, Mushiba AM, Zaki MS, Fassad MR, Alfadhel M, Alexander S, Sabr Y, Temtamy S, Ekbote AV, Ismail S, Hosny GA, Otaify GA, Amr K, Al Tala S, Khan AO, Rizk T, Alaqeel A, Alsiddiky A, Singh A, Kapoor S, Alhashem A, Faqeih E, Shaheen R, Alkuraya FS.

Genet Med. 2018 Dec;20(12):1609-1616. doi: 10.1038/gim.2018.50. Epub 2018 Apr 5.

PMID:
29620724
33.

Ghrelin prevents cardiac cell apoptosis during cardiac remodelling post experimentally induced myocardial infarction in rats via activation of Raf-MEK1/2-ERK1/2 signalling.

Eid RA, Alkhateeb MA, Al-Shraim M, Eleawa SM, Shatoor AS, El-Kott AF, Zaki MSA, Shatoor KA, Bin-Jaliah I, Al-Hashem FH.

Arch Physiol Biochem. 2019 May;125(2):93-103. doi: 10.1080/13813455.2018.1437751. Epub 2018 Feb 15.

PMID:
29447000
34.

Cardioprotective effect of ghrelin against myocardial infarction-induced left ventricular injury via inhibition of SOCS3 and activation of JAK2/STAT3 signaling.

Eid RA, Alkhateeb MA, Eleawa S, Al-Hashem FH, Al-Shraim M, El-Kott AF, Zaki MSA, Dallak MA, Aldera H.

Basic Res Cardiol. 2018 Feb 1;113(2):13. doi: 10.1007/s00395-018-0671-4.

PMID:
29392420
35.

Biallelic variants in KIF14 cause intellectual disability with microcephaly.

Makrythanasis P, Maroofian R, Stray-Pedersen A, Musaev D, Zaki MS, Mahmoud IG, Selim L, Elbadawy A, Jhangiani SN, Coban Akdemir ZH, Gambin T, Sorte HS, Heiberg A, McEvoy-Venneri J, James KN, Stanley V, Belandres D, Guipponi M, Santoni FA, Ahangari N, Tara F, Doosti M, Iwaszkiewicz J, Zoete V, Backe PH, Hamamy H, Gleeson JG, Lupski JR, Karimiani EG, Antonarakis SE.

Eur J Hum Genet. 2018 Mar;26(3):330-339. doi: 10.1038/s41431-017-0088-9. Epub 2018 Jan 17.

36.

Extracellular miR-145, miR-223 and miR-326 expression signature allow for differential diagnosis of immune-mediated neuroinflammatory diseases.

Sharaf-Eldin WE, Kishk NA, Gad YZ, Hassan H, Ali MAM, Zaki MS, Mohamed MR, Essawi ML.

J Neurol Sci. 2017 Dec 15;383:188-198. doi: 10.1016/j.jns.2017.11.014. Epub 2017 Nov 15.

PMID:
29246612
37.

Hypermanganesemia with dystonia, polycythemia and cirrhosis in 10 patients: Six novel SLC30A10 mutations and further phenotype delineation.

Zaki MS, Issa MY, Elbendary HM, El-Karaksy H, Hosny H, Ghobrial C, El Safty A, El-Hennawy A, Oraby A, Selim L, Abdel-Hamid MS.

Clin Genet. 2018 Apr;93(4):905-912. doi: 10.1111/cge.13184. Epub 2018 Feb 11.

PMID:
29193034
38.

Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.

Nguyen TTM, Murakami Y, Sheridan E, Ehresmann S, Rousseau J, St-Denis A, Chai G, Ajeawung NF, Fairbrother L, Reimschisel T, Bateman A, Berry-Kravis E, Xia F, Tardif J, Parry DA, Logan CV, Diggle C, Bennett CP, Hattingh L, Rosenfeld JA, Perry MS, Parker MJ, Le Deist F, Zaki MS, Ignatius E, Isohanni P, Lönnqvist T, Carroll CJ, Johnson CA, Gleeson JG, Kinoshita T, Campeau PM.

Am J Hum Genet. 2017 Nov 2;101(5):856-865. doi: 10.1016/j.ajhg.2017.09.020.

39.

The Burden of Primary Liver Cancer and Underlying Etiologies From 1990 to 2015 at the Global, Regional, and National Level: Results From the Global Burden of Disease Study 2015.

Global Burden of Disease Liver Cancer Collaboration, Akinyemiju T, Abera S, Ahmed M, Alam N, Alemayohu MA, Allen C, Al-Raddadi R, Alvis-Guzman N, Amoako Y, Artaman A, Ayele TA, Barac A, Bensenor I, Berhane A, Bhutta Z, Castillo-Rivas J, Chitheer A, Choi JY, Cowie B, Dandona L, Dandona R, Dey S, Dicker D, Phuc H, Ekwueme DU, Zaki MS, Fischer F, Fürst T, Hancock J, Hay SI, Hotez P, Jee SH, Kasaeian A, Khader Y, Khang YH, Kumar A, Kutz M, Larson H, Lopez A, Lunevicius R, Malekzadeh R, McAlinden C, Meier T, Mendoza W, Mokdad A, Moradi-Lakeh M, Nagel G, Nguyen Q, Nguyen G, Ogbo F, Patton G, Pereira DM, Pourmalek F, Qorbani M, Radfar A, Roshandel G, Salomon JA, Sanabria J, Sartorius B, Satpathy M, Sawhney M, Sepanlou S, Shackelford K, Shore H, Sun J, Mengistu DT, Topór-Mądry R, Tran B, Ukwaja KN, Vlassov V, Vollset SE, Vos T, Wakayo T, Weiderpass E, Werdecker A, Yonemoto N, Younis M, Yu C, Zaidi Z, Zhu L, Murray CJL, Naghavi M, Fitzmaurice C.

JAMA Oncol. 2017 Dec 1;3(12):1683-1691. doi: 10.1001/jamaoncol.2017.3055. No abstract available.

40.

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.

De Mori R, Romani M, D'Arrigo S, Zaki MS, Lorefice E, Tardivo S, Biagini T, Stanley V, Musaev D, Fluss J, Micalizzi A, Nuovo S, Illi B, Chiapparini L, Di Marcotullio L, Issa MY, Anello D, Casella A, Ginevrino M, Leggins AS, Roosing S, Alfonsi R, Rosati J, Schot R, Mancini GMS, Bertini E, Dobyns WB, Mazza T, Gleeson JG, Valente EM.

Am J Hum Genet. 2017 Oct 5;101(4):552-563. doi: 10.1016/j.ajhg.2017.08.017. Epub 2017 Sep 28.

41.

Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.

Marin-Valencia I, Gerondopoulos A, Zaki MS, Ben-Omran T, Almureikhi M, Demir E, Guemez-Gamboa A, Gregor A, Issa MY, Appelhof B, Roosing S, Musaev D, Rosti B, Wirth S, Stanley V, Baas F, Barr FA, Gleeson JG.

Am J Hum Genet. 2017 Sep 7;101(3):441-450. doi: 10.1016/j.ajhg.2017.07.015. Epub 2017 Aug 17.

42.

A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features.

Marin-Valencia I, Novarino G, Johansen A, Rosti B, Issa MY, Musaev D, Bhat G, Scott E, Silhavy JL, Stanley V, Rosti RO, Gleeson JW, Imam FB, Zaki MS, Gleeson JG.

J Med Genet. 2018 Jan;55(1):48-54. doi: 10.1136/jmedgenet-2017-104627. Epub 2017 Jun 16.

43.

Filed studies on some probiotics to minimize hazard effects of prevailing heavy metals contamination for improving immunity and growth performance of Oreochromis niloticus.

Abu-Braka AZ, Zaki MS, Abbas HH, Ismail NEDA, Khalil R, Tanekhy M, Saad T.

Electron Physician. 2017 Apr 25;9(4):4138-4144. doi: 10.19082/4138. eCollection 2017 Apr.

44.

The effect of Hepatitis C Virus infection on cardiovascular complications in end stage kidney disease patients on regular hemodialysis.

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Electron Physician. 2017 Feb 25;9(2):3857-3861. doi: 10.19082/3857. eCollection 2017 Feb.

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Exercise protects against insulin-dependent diabetes-induced osteoarthritis in rats: A scanning electron microscopy study.

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Ultrastruct Pathol. 2017 May-Jun;41(3):252-257. doi: 10.1080/01913123.2017.1313346. Epub 2017 May 2.

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PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.

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Clin Genet. 2018 Jan;93(1):84-91. doi: 10.1111/cge.13033. Epub 2017 Aug 4.

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Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features.

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Am J Hum Genet. 2017 Apr 6;100(4):676-688. doi: 10.1016/j.ajhg.2017.03.001. Epub 2017 Mar 23.

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Aicardi-Goutières syndrome: unusual neuro-radiological manifestations.

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Metab Brain Dis. 2017 Jun;32(3):679-683. doi: 10.1007/s11011-017-9993-4. Epub 2017 Mar 23.

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A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract.

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Metab Brain Dis. 2017 Apr;32(2):311-315. doi: 10.1007/s11011-017-9971-x. Epub 2017 Feb 22.

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Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations.

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J Hum Genet. 2017 Apr;62(5):553-559. doi: 10.1038/jhg.2017.4. Epub 2017 Feb 9.

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