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Items: 17

1.

First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient.

Alsagob M, Salih MA, Hamad MHA, Al-Yafee Y, Al-Zahrani J, Al-Bakheet A, Nester M, Sakati N, Wakil SM, AlOdaib A, Colak D, Kaya N.

Mol Cytogenet. 2019 May 18;12:21. doi: 10.1186/s13039-019-0432-6. eCollection 2019.

2.

KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability.

Kaya N, Alsagob M, D'Adamo MC, Al-Bakheet A, Hasan S, Muccioli M, Almutairi FB, Almass R, Aldosary M, Monies D, Mustafa OM, Alyounes B, Kenana R, Al-Zahrani J, Naim E, Binhumaid FS, Qari A, Almutairi F, Meyer B, Plageman TF, Pessia M, Colak D, Al-Owain M.

J Med Genet. 2016 Nov;53(11):786-792. doi: 10.1136/jmedgenet-2015-103637. Epub 2016 Aug 31.

PMID:
27582084
3.

Utilizing the Ipswich Touch Test to simplify screening methods for identifying the risk of foot ulceration among diabetics: The Saudi experience.

Madanat A, Sheshah E, Badawy el-B, Abbas A, Al-Bakheet A.

Prim Care Diabetes. 2015 Aug;9(4):304-6. doi: 10.1016/j.pcd.2014.10.007. Epub 2014 Nov 22.

PMID:
25466160
4.

Breast stromal fibroblasts from histologically normal surgical margins are pro-carcinogenic.

Al-Rakan MA, Colak D, Hendrayani SF, Al-Bakheet A, Al-Mohanna FH, Kaya N, Al-Malik O, Aboussekhra A.

J Pathol. 2013 Dec;231(4):457-65. doi: 10.1002/path.4256.

5.

Autism spectrum disorder in a child with propionic acidemia.

Al-Owain M, Kaya N, Al-Shamrani H, Al-Bakheet A, Qari A, Al-Muaigl S, Ghaziuddin M.

JIMD Rep. 2013;7:63-6. doi: 10.1007/8904_2012_143. Epub 2012 Mar 31.

6.

A novel syndrome of abnormal striatum and congenital cataract: evidence for linkage to chromosomes 11.

Al-Owain M, Al-Zahrani J, Al-Bakheet A, Abudheim N, Al-Younes B, Aldhalaan H, Al-Zaidan H, Colak D, Almohaileb F, Abouzied ME, Al-Fadhli F, Meyer B, Kaya N.

Clin Genet. 2013 Sep;84(3):258-64. doi: 10.1111/cge.12066. Epub 2012 Dec 21.

PMID:
23181898
7.

Identification of a novel IVD mutation in a consanguineous family with isovaleric acidemia.

Kaya N, Colak D, Al-Bakheet A, Al-Younes B, Tulbah S, Daghestani M, Al-Mutairi F, Al-Amoudi M, Al-Odaib A, Al-Aqeel AI.

Gene. 2013 Jan 25;513(2):297-300. doi: 10.1016/j.gene.2012.09.097. Epub 2012 Oct 9.

PMID:
23063737
8.

Genome-wide expression profiling of patients with primary open angle glaucoma.

Colak D, Morales J, Bosley TM, Al-Bakheet A, AlYounes B, Kaya N, Abu-Amero KK.

Invest Ophthalmol Vis Sci. 2012 Aug 27;53(9):5899-904. doi: 10.1167/iovs.12-9634.

PMID:
22871836
9.

A novel interstitial microdeletion of 7q22.1-7q22.3 detected by array comparative genomic hybridization.

Al-Hassnan ZN, Al-Bakheet A, Abu-Dheim N, Al-Younes B, Colak D, Kaya N.

Am J Med Genet A. 2011 Dec;155A(12):3128-31. doi: 10.1002/ajmg.a.34298. Epub 2011 Oct 14. No abstract available.

PMID:
22002944
10.

Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII.

Kaya N, Aldhalaan H, Al-Younes B, Colak D, Shuaib T, Al-Mohaileb F, Al-Sugair A, Nester M, Al-Yamani S, Al-Bakheet A, Al-Hashmi N, Al-Sayed M, Meyer B, Jungbluth H, Al-Owain M.

Am J Med Genet B Neuropsychiatr Genet. 2011 Dec;156B(7):826-34. doi: 10.1002/ajmg.b.31227. Epub 2011 Aug 2.

PMID:
21812104
11.

p16( INK4a) positively regulates cyclin D1 and E2F1 through negative control of AUF1.

Al-Khalaf HH, Colak D, Al-Saif M, Al-Bakheet A, Hendrayani SF, Al-Yousef N, Kaya N, Khabar KS, Aboussekhra A.

PLoS One. 2011;6(7):e21111. doi: 10.1371/journal.pone.0021111. Epub 2011 Jul 20.

12.

Novel mutation in GLRB in a large family with hereditary hyperekplexia.

Al-Owain M, Colak D, Al-Bakheet A, Al-Hashmi N, Shuaib T, Al-Hemidan A, Aldhalaan H, Rahbeeni Z, Al-Sayed M, Al-Younes B, Ozand PT, Kaya N.

Clin Genet. 2012 May;81(5):479-84. doi: 10.1111/j.1399-0004.2011.01661.x. Epub 2011 Apr 7.

PMID:
21391991
13.

Renal failure associated with APECED and terminal 4q deletion: evidence of autoimmune nephropathy.

Al-Owain M, Kaya N, Al-Zaidan H, Bin Hussain I, Al-Manea H, Al-Hindi H, Kennedy S, Iqbal MA, Al-Mojalli H, Al-Bakheet A, Puel A, Casanova JL, Al-Muhsen S.

Clin Dev Immunol. 2010;2010:586342. doi: 10.1155/2010/586342. Epub 2010 Dec 14.

14.

ICF syndrome in Saudi Arabia: immunological, cytogenetic and molecular analysis.

Kaya N, Al-Muhsen S, Al-Saud B, Al-Bakheet A, Colak D, Al-Ghonaium A, Al-Dhekri H, Al-Mousa H, Arnaout R, Al-Owain M, Iqbal M.

J Clin Immunol. 2011 Apr;31(2):245-52. doi: 10.1007/s10875-010-9488-0. Epub 2010 Dec 1.

PMID:
21120685
15.

Integrative and comparative genomics analysis of early hepatocellular carcinoma differentiated from liver regeneration in young and old.

Colak D, Chishti MA, Al-Bakheet AB, Al-Qahtani A, Shoukri MM, Goyns MH, Ozand PT, Quackenbush J, Park BH, Kaya N.

Mol Cancer. 2010 Jun 12;9:146. doi: 10.1186/1476-4598-9-146.

16.

Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance.

Al-Owain M, Kaya N, Al-Zaidan H, Al-Hashmi N, Al-Bakheet A, Al-Muhaizea M, Chedrawi A, Basran RK, Milunsky A.

Clin Genet. 2011 Apr;79(4):363-70. doi: 10.1111/j.1399-0004.2010.01462.x.

PMID:
20528889
17.

Left ventricular global transcriptional profiling in human end-stage dilated cardiomyopathy.

Colak D, Kaya N, Al-Zahrani J, Al Bakheet A, Muiya P, Andres E, Quackenbush J, Dzimiri N.

Genomics. 2009 Jul;94(1):20-31. doi: 10.1016/j.ygeno.2009.03.003. Epub 2009 Mar 28.

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