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Items: 30

1.

Very low calorie diets are associated with transient ventricular impairment before reversal of diastolic dysfunction in obesity.

Rayner JJ, Abdesselam I, Peterzan MA, Akoumianakis I, Akawi N, Antoniades C, Tomlinson JW, Neubauer S, Rider OJ.

Int J Obes (Lond). 2018 Nov 21. doi: 10.1038/s41366-018-0263-2. [Epub ahead of print]

PMID:
30464235
2.

Quantifying the contribution of recessive coding variation to developmental disorders.

Martin HC, Jones WD, McIntyre R, Sanchez-Andrade G, Sanderson M, Stephenson JD, Jones CP, Handsaker J, Gallone G, Bruntraeger M, McRae JF, Prigmore E, Short P, Niemi M, Kaplanis J, Radford EJ, Akawi N, Balasubramanian M, Dean J, Horton R, Hulbert A, Johnson DS, Johnson K, Kumar D, Lynch SA, Mehta SG, Morton J, Parker MJ, Splitt M, Turnpenny PD, Vasudevan PC, Wright M, Bassett A, Gerety SS, Wright CF, FitzPatrick DR, Firth HV, Hurles ME, Barrett JC; Deciphering Developmental Disorders Study.

Science. 2018 Dec 7;362(6419):1161-1164. doi: 10.1126/science.aar6731. Epub 2018 Nov 8.

PMID:
30409806
3.

Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy.

Ben-Salem S, Robbins SM, Lm Sobreira N, Lyon A, Al-Shamsi AM, Islam BK, Akawi NA, John A, Thachillath P, Al Hamed S, Valle D, Ali BR, Al-Gazali L.

J Med Genet. 2018 Feb;55(2):122-130. doi: 10.1136/jmedgenet-2017-104827. Epub 2017 Nov 9.

PMID:
29122926
4.

Exploring the Crosstalk between Adipose Tissue and the Cardiovascular System.

Akoumianakis I, Akawi N, Antoniades C.

Korean Circ J. 2017 Sep;47(5):670-685. doi: 10.4070/kcj.2017.0041. Epub 2017 Sep 21. Review.

5.

A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement.

Akawi NA, Ben-Salem S, Hertecant J, John A, Pramathan T, Kizhakkedath P, Ali BR, Al-Gazali L.

Orphanet J Rare Dis. 2016 Oct 21;11(1):139.

6.

Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.

Muona M, Ishimura R, Laari A, Ichimura Y, Linnankivi T, Keski-Filppula R, Herva R, Rantala H, Paetau A, Pöyhönen M, Obata M, Uemura T, Karhu T, Bizen N, Takebayashi H, McKee S, Parker MJ, Akawi N, McRae J, Hurles ME; DDD Study, Kuismin O, Kurki MI, Anttonen AK, Tanaka K, Palotie A, Waguri S, Lehesjoki AE, Komatsu M.

Am J Hum Genet. 2016 Sep 1;99(3):683-694. doi: 10.1016/j.ajhg.2016.06.020. Epub 2016 Aug 18.

7.

A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene.

Akawi N, Ben-Salem S, Lahti L, Partanen J, Ali BR, Al-Gazali L.

Am J Med Genet A. 2016 Aug;170(8):2111-8. doi: 10.1002/ajmg.a.37741. Epub 2016 May 17. Review.

PMID:
27183861
8.

Secondary association of PDLIM5 with paranoid schizophrenia in Emirati patients.

Moselhy H, Eapen V, Akawi NA, Younis A, Salih B, Othman AR, Yousef S, Clarke RA, Ali BR.

Meta Gene. 2015 Jul 21;5:135-9. doi: 10.1016/j.mgene.2015.07.002. eCollection 2015 Sep.

9.

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.

Akawi N, McRae J, Ansari M, Balasubramanian M, Blyth M, Brady AF, Clayton S, Cole T, Deshpande C, Fitzgerald TW, Foulds N, Francis R, Gabriel G, Gerety SS, Goodship J, Hobson E, Jones WD, Joss S, King D, Klena N, Kumar A, Lees M, Lelliott C, Lord J, McMullan D, O'Regan M, Osio D, Piombo V, Prigmore E, Rajan D, Rosser E, Sifrim A, Smith A, Swaminathan GJ, Turnpenny P, Whitworth J, Wright CF, Firth HV, Barrett JC, Lo CW, FitzPatrick DR, Hurles ME; DDD study.

Nat Genet. 2015 Nov;47(11):1363-9. doi: 10.1038/ng.3410. Epub 2015 Oct 5.

10.

Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings.

Ben-Salem S, Sobreira N, Akawi NA, Al-Shamsi AM, John A, Pramathan T, Valle D, Ali BR, Al-Gazali L.

Am J Med Genet A. 2016 Jan;170A(1):156-61. doi: 10.1002/ajmg.a.37405. Epub 2015 Sep 23.

11.

METTL23, a transcriptional partner of GABPA, is essential for human cognition.

Reiff RE, Ali BR, Baron B, Yu TW, Ben-Salem S, Coulter ME, Schubert CR, Hill RS, Akawi NA, Al-Younes B, Kaya N, Evrony GD, Al-Saffar M, Felie JM, Partlow JN, Sunu CM, Schembri-Wismayer P, Alkuraya FS, Meyer BF, Walsh CA, Al-Gazali L, Mochida GH.

Hum Mol Genet. 2014 Jul 1;23(13):3456-66. doi: 10.1093/hmg/ddu054. Epub 2014 Feb 5.

12.

A response to Dr. Alzahrani's letter to the editor regarding the mechanism underlying fibrochondrogenesis.

Akawi NA, Ali BR, Al-Gazali L.

Gene. 2013 Oct 10;528(2):367-8. doi: 10.1016/j.gene.2013.07.038. Epub 2013 Jul 29. No abstract available.

PMID:
23906683
13.

LINS, a modulator of the WNT signaling pathway, is involved in human cognition.

Akawi NA, Al-Jasmi F, Al-Shamsi AM, Ali BR, Al-Gazali L.

Orphanet J Rare Dis. 2013 Jun 17;8:87. doi: 10.1186/1750-1172-8-87.

14.

A progeroid syndrome with neonatal presentation and long survival maps to 19p13.3p13.2.

Akawi N, Ali B, Al Gazali L.

Birth Defects Res A Clin Mol Teratol. 2013 Jul;97(7):456-62. doi: 10.1002/bdra.23136. Epub 2013 May 20.

PMID:
23696134
15.

Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.

Akawi NA, Canpolat FE, White SM, Quilis-Esquerra J, Morales Sanchez M, Gamundi MJ, Mochida GH, Walsh CA, Ali BR, Al-Gazali L.

Hum Mutat. 2013 Mar;34(3):498-505. doi: 10.1002/humu.22263.

16.

Retention in the endoplasmic reticulum is the underlying mechanism of some hereditary haemorrhagic telangiectasia type 2 ALK1 missense mutations.

Hume AN, John A, Akawi NA, Al-Awadhi AM, Al-Suwaidi SS, Al-Gazali L, Ali BR.

Mol Cell Biochem. 2013 Jan;373(1-2):247-57. doi: 10.1007/s11010-012-1496-3. Epub 2012 Nov 4.

PMID:
23124896
17.

A novel mutation in PRG4 gene underlying camptodactyly-arthropathy-coxa vara-pericarditis syndrome with the possible expansion of the phenotype to include congenital cataract.

Akawi NA, Ali BR, Al-Gazali L.

Birth Defects Res A Clin Mol Teratol. 2012 Jul;94(7):553-6. doi: 10.1002/bdra.23031. Epub 2012 Jun 8.

PMID:
22678705
18.

A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.

Ali BR, Silhavy JL, Akawi NA, Gleeson JG, Al-Gazali L.

Orphanet J Rare Dis. 2012 May 15;7:27. doi: 10.1186/1750-1172-7-27.

19.

Stüve-Wiedemann syndrome and related bent bone dysplasias.

Akawi NA, Ali BR, Al-Gazali L.

Clin Genet. 2012 Jul;82(1):12-21. doi: 10.1111/j.1399-0004.2012.01852.x. Epub 2012 Feb 21. Review.

PMID:
22300393
20.

Identification of new alleles and the determination of alleles and genotypes frequencies at the CYP2D6 gene in Emiratis.

Qumsieh RY, Ali BR, Abdulrazzaq YM, Osman O, Akawi NA, Bastaki SM.

PLoS One. 2011;6(12):e28943. doi: 10.1371/journal.pone.0028943. Epub 2011 Dec 22.

21.

Change in meticillin-resistant Staphylococcus aureus clones at a tertiary care hospital in the United Arab Emirates over a 5-year period.

Sonnevend Á, Blair I, Alkaabi M, Jumaa P, Al Haj M, Ghazawi A, Akawi N, Jouhar FS, Hamadeh MB, Pál T.

J Clin Pathol. 2012 Feb;65(2):178-82. doi: 10.1136/jclinpath-2011-200436. Epub 2011 Oct 29.

PMID:
22039280
22.

Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia.

Ali BR, Ben-Rebeh I, John A, Akawi NA, Milhem RM, Al-Shehhi NA, Al-Ameri MM, Al-Shamisi SA, Al-Gazali L.

PLoS One. 2011;6(10):e26206. doi: 10.1371/journal.pone.0026206. Epub 2011 Oct 14.

23.

Lack of correlation between the 257C-to-T mutation in the gyrA gene and clinical severity of Campylobacter jejuni infection in a region of high incidence of ciprofloxacin resistance.

Sonnevend Á, Kovács J, Pál T, Akawi N, Nagelkerke N, Schneider G.

Scand J Infect Dis. 2011 Dec;43(11-12):905-11. doi: 10.3109/00365548.2011.603743. Epub 2011 Sep 12.

PMID:
21905953
24.

Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations.

Akawi NA, Al-Gazali L, Ali BR.

Clin Genet. 2012 Aug;82(2):147-56. doi: 10.1111/j.1399-0004.2011.01734.x. Epub 2011 Jul 18.

PMID:
21668896
25.

Is autosomal recessive Silver-Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum?

Akawi NA, Ali BR, Hamamy H, Al-Hadidy A, Al-Gazali L.

Am J Med Genet A. 2011 Jun;155A(6):1236-45. doi: 10.1002/ajmg.a.34009. Epub 2011 May 5.

PMID:
21548126
26.

New and known mutations associated with inborn errors of metabolism in a heterogeneous Middle Eastern population.

Ali BR, Hertecant JL, Al-Jasmi FA, Hamdan MA, Khuri SF, Akawi NA, Al-Gazali LI.

Saudi Med J. 2011 Apr;32(4):353-9.

PMID:
21483992
27.

A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.

Mochida GH, Ganesh VS, Felie JM, Gleason D, Hill RS, Clapham KR, Rakiec D, Tan WH, Akawi N, Al-Saffar M, Partlow JN, Tinschert S, Barkovich AJ, Ali B, Al-Gazali L, Walsh CA.

Am J Hum Genet. 2010 Dec 10;87(6):882-9. doi: 10.1016/j.ajhg.2010.10.026. Epub 2010 Nov 25.

28.

Prenatal diagnosis of thanatophoric dysplasia and obstetrical challenges.

Bekdache GN, Begum M, Al-Gazali L, Ali BR, Akawi NA, Mirghani H.

J Obstet Gynaecol. 2010;30(6):628-30. doi: 10.3109/01443615.2010.492881. No abstract available.

PMID:
20701518
29.

Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients.

Ali BR, Xu H, Akawi NA, John A, Karuvantevida NS, Langer R, Al-Gazali L, Leitinger B.

Hum Mol Genet. 2010 Jun 1;19(11):2239-50. doi: 10.1093/hmg/ddq103. Epub 2010 Mar 10.

30.

Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates.

Ali BR, Akawi NA, Chedid F, Bakir M, Ur Rehman M, Rahmani A, Al-Gazali L.

BMC Med Genet. 2010 Feb 25;11:33. doi: 10.1186/1471-2350-11-33.

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