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Items: 1 to 20 of 100

1.

Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patients.

Mitropoulos K, Merkouri Papadima E, Xiromerisiou G, Balasopoulou A, Charalampidou K, Galani V, Zafeiri KV, Dardiotis E, Ralli S, Deretzi G, John A, Kydonopoulou K, Papadopoulou E, di Pardo A, Akcimen F, Loizedda A, Dobričić V, Novaković I, Kostić VS, Mizzi C, Peters BA, Basak N, Orrù S, Kiskinis E, Cooper DN, Gerou S, Drmanac R, Bartsakoulia M, Tsermpini EE, Hadjigeorgiou GM, Ali BR, Katsila T, Patrinos GP.

Hum Genomics. 2017 Dec 8;11(1):30. doi: 10.1186/s40246-017-0126-2.

2.

Genomic Medicine Without Borders: Which Strategies Should Developing Countries Employ to Invest in Precision Medicine? A New "Fast-Second Winner" Strategy.

Mitropoulos K, Cooper DN, Mitropoulou C, Agathos S, Reichardt JKV, Al-Maskari F, Chantratita W, Wonkam A, Dandara C, Katsila T, Lopez-Correa C, Ali BR, Patrinos GP.

OMICS. 2017 Nov;21(11):647-657. doi: 10.1089/omi.2017.0141.

PMID:
29140767
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. 2017 Nov 9. pii: jmedgenet-2017-104827. doi: 10.1136/jmedgenet-2017-104827. [Epub ahead of print]

PMID:
29122926
4.

Whole transcriptome analysis of human erythropoietic cells during ontogenesis suggests a role of VEGFA gene as modulator of fetal hemoglobin and pharmacogenomic biomarker of treatment response to hydroxyurea in β-type hemoglobinopathy patients.

Chondrou V, Kolovos P, Sgourou A, Kourakli A, Pavlidaki A, Kastrinou V, John A, Symeonidis A, Ali BR, Papachatzopoulou A, Katsila T, Patrinos GP.

Hum Genomics. 2017 Oct 23;11(1):24. doi: 10.1186/s40246-017-0120-8.

5.

Genetic polymorphisms of cytochrome P450-1A2 (CYP1A2) among Emiratis.

Al-Ahmad MM, Amir N, Dhanasekaran S, John A, Abdulrazzaq YM, Ali BR, Bastaki SMA.

PLoS One. 2017 Sep 21;12(9):e0183424. doi: 10.1371/journal.pone.0183424. eCollection 2017.

6.

Pharmaceutical Chaperones and Proteostasis Regulators in the Therapy of Lysosomal Storage Disorders: Current Perspective and Future Promises.

Mohamed FE, Al-Gazali L, Al-Jasmi F, Ali BR.

Front Pharmacol. 2017 Jul 7;8:448. doi: 10.3389/fphar.2017.00448. eCollection 2017. Review.

7.

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.

Zhang J, Gambin T, Yuan B, Szafranski P, Rosenfeld JA, Balwi MA, Alswaid A, Al-Gazali L, Shamsi AMA, Komara M, Ali BR, Roeder E, McAuley L, Roy DS, Manchester DK, Magoulas P, King LE, Hannig V, Bonneau D, Denommé-Pichon AS, Charif M, Besnard T, Bézieau S, Cogné B, Andrieux J, Zhu W, He W, Vetrini F, Ward PA, Cheung SW, Bi W, Eng CM, Lupski JR, Yang Y, Patel A, Lalani SR, Xia F, Stankiewicz P.

Hum Genet. 2017 Aug;136(8):1009-1011. doi: 10.1007/s00439-017-1828-1. No abstract available.

PMID:
28660352
8.

Studies on N-Acetyltransferase (NAT2) Genotype Relationships in Emiratis: Confirmation of the Existence of Phenotype Variation among Slow Acetylators.

Al-Ahmad MM, Amir N, Dhanasekaran S, John A, Abdulrazzaq YM, Ali BR, Bastaki S.

Ann Hum Genet. 2017 Sep;81(5):190-196. doi: 10.1111/ahg.12198. Epub 2017 Jun 27.

PMID:
28653770
9.

Intratumoral FoxP3+Helios+ Regulatory T Cells Upregulating Immunosuppressive Molecules Are Expanded in Human Colorectal Cancer.

Syed Khaja AS, Toor SM, El Salhat H, Ali BR, Elkord E.

Front Immunol. 2017 May 26;8:619. doi: 10.3389/fimmu.2017.00619. eCollection 2017.

10.

Key Pharmacogenomic Considerations for Sickle Cell Disease Patients.

Kolliopoulou A, Stratopoulos A, Siamoglou S, Sgourou A, Ali BR, Papachatzopoulou A, Katsila T, Patrinos GP.

OMICS. 2017 Jun;21(6):314-322. doi: 10.1089/omi.2017.0058. Epub 2017 May 9.

PMID:
28486096
11.

Pharmacogenomics in pediatric acute lymphoblastic leukemia: promises and limitations.

Al-Mahayri ZN, Patrinos GP, Ali BR.

Pharmacogenomics. 2017 May;18(7):687-699. doi: 10.2217/pgs-2017-0005. Epub 2017 May 4. Review.

PMID:
28468529
12.

Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II.

Al-Jezawi NK, Ali BR, Al-Gazali L.

Am J Med Genet A. 2017 Apr 30. doi: 10.1002/ajmg.a.38244. [Epub ahead of print]

PMID:
28462984
13.

Preferential accumulation of regulatory T cells with highly immunosuppressive characteristics in breast tumor microenvironment.

Syed Khaja AS, Toor SM, El Salhat H, Faour I, Ul Haq N, Ali BR, Elkord E.

Oncotarget. 2017 May 16;8(20):33159-33171. doi: 10.18632/oncotarget.16565.

14.

A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss.

Gariballa N, Ben-Mahmoud A, Komara M, Al-Shamsi AM, John A, Ali BR, Al-Gazali L.

Am J Med Genet A. 2017 May;173(5):1257-1263. doi: 10.1002/ajmg.a.38153. Epub 2017 Mar 21.

PMID:
28322503
15.

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.

Zhang J, Gambin T, Yuan B, Szafranski P, Rosenfeld JA, Balwi MA, Alswaid A, Al-Gazali L, Shamsi AMA, Komara M, Ali BR, Roeder E, McAuley L, Roy DS, Manchester DK, Magoulas P, King LE, Hannig V, Bonneau D, Denommé-Pichon AS, Charif M, Besnard T, Bézieau S, Cogné B, Andrieux J, Zhu W, He W, Vetrini F, Ward PA, Cheung SW, Bi W, Eng CM, Lupski JR, Yang Y, Patel A, Lalani SR, Xia F, Stankiewicz P.

Hum Genet. 2017 Apr;136(4):377-386. doi: 10.1007/s00439-017-1763-1. Epub 2017 Mar 1. Erratum in: Hum Genet. 2017 Jun 28;:.

16.

A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins.

Hertecant J, Komara M, Nagi A, Al-Zaabi O, Fathallah W, Cui H, Yang Y, Eng CM, Al Sorkhy M, Ghattas MA, Al-Gazali L, Ali BR.

Eur J Med Genet. 2017 Apr;60(4):212-216. doi: 10.1016/j.ejmg.2017.01.004. Epub 2017 Jan 24.

PMID:
28126652
17.

Novel genetic risk variants for pediatric celiac disease.

Balasopoulou A, Stanković B, Panagiotara A, Nikčevic G, Peters BA, John A, Mendrinou E, Stratopoulos A, Legaki AI, Stathakopoulou V, Tsolia A, Govaris N, Govari S, Zagoriti Z, Poulas K, Kanariou M, Constantinidou N, Krini M, Spanou K, Radlovic N, Ali BR, Borg J, Drmanac R, Chrousos G, Pavlovic S, Roma E, Zukic B, Patrinos GP, Katsila T.

Hum Genomics. 2016 Oct 24;10(1):34.

18.

FGF23-S129F mutant bypasses ER/Golgi to the circulation of hyperphosphatemic familial tumoral calcinosis patients.

Shawar SM, Ramadan AR, Ali BR, Alghamdi MA, John A, Hudaib FM.

Bone. 2016 Dec;93:187-195. doi: 10.1016/j.bone.2015.11.015. Epub 2015 Nov 24.

PMID:
26620085
19.

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.

20.

Correlation of SIN3A genomic variants with β-hemoglobinopathies disease severity and hydroxyurea treatment efficacy.

Gravia A, Chondrou V, Kolliopoulou A, Kourakli A, John A, Symeonidis A, Ali BR, Sgourou A, Papachatzopoulou A, Katsila T, Patrinos GP.

Pharmacogenomics. 2016 Oct 21. [Epub ahead of print]

PMID:
27767389

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