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Items: 1 to 50 of 100

1.

Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF.

Khalil A, Karroum SB, Barake R, Dunya G, Abou-Rizk S, Kamar A, Nemer G, Bassim M.

BMC Med Genet. 2020 Jan 2;21(1):1. doi: 10.1186/s12881-019-0942-4.

2.

Novel EIF2AK4 mutations in histologically proven pulmonary capillary hemangiomatosis and hereditary pulmonary arterial hypertension.

Abou Hassan OK, Haidar W, Arabi M, Skouri H, Bitar F, Nemer G, Akl IB.

BMC Med Genet. 2019 Nov 11;20(1):176. doi: 10.1186/s12881-019-0915-7.

3.

Loss of ferrochelatase is protective against colon cancer cells: ferrochelatase a possible regulator of the long noncoding RNA H19.

Safi R, Mohsen-Kanson T, Nemer G, Dekmak B, Rubeiz N, El-Sabban M, Nassar D, Eid A, Abbas O, Kibbi AG, Kurban M.

J Gastrointest Oncol. 2019 Oct;10(5):859-868. doi: 10.21037/jgo.2019.03.09.

4.

Chanarin-Dorfman syndrome: a novel homozygous mutation in the ABHD5 gene.

Al-Hage J, Abbas O, Nemer G, Kurban M.

Clin Exp Dermatol. 2020 Mar;45(2):257-259. doi: 10.1111/ced.14062. Epub 2019 Sep 4. No abstract available.

PMID:
31486100
5.

Editorial: The Non-coding Genome and Cardiovascular Disease.

Mishra PK, Nemer G.

Front Cardiovasc Med. 2019 Jul 16;6:98. doi: 10.3389/fcvm.2019.00098. eCollection 2019. No abstract available.

6.

Three novel genes tied to mandibular prognathism in eastern Mediterranean families.

Genno PG, Nemer GM, Zein Eddine SB, Macari AT, Ghafari JG.

Am J Orthod Dentofacial Orthop. 2019 Jul;156(1):104-112.e3. doi: 10.1016/j.ajodo.2018.08.020.

PMID:
31256822
7.

Correction to: A Novel Somatic Variant in HEY2 Unveils an Alternative Splicing Isoform Linked to Ventricular Septal Defect.

Fardoun M, Dehaini H, Kamar A, Bitar F, Majdalani M, El-Rassi I, Nemer G, Arabi M.

Pediatr Cardiol. 2019 Jun;40(5):1092. doi: 10.1007/s00246-019-02120-4.

PMID:
31087142
8.

A Novel Somatic Variant in HEY2 Unveils an Alternative Splicing Isoform Linked to Ventricular Septal Defect.

Fardoun M, Dehaini H, Kamar A, Bitar F, Majdalani M, El-Rassi I, Nemer G, Arabi M.

Pediatr Cardiol. 2019 Jun;40(5):1084-1091. doi: 10.1007/s00246-019-02099-y. Epub 2019 Apr 6. Erratum in: Pediatr Cardiol. 2019 May 13;:.

PMID:
30955100
9.

Comparison of Three Processes for Parenteral Nanoemulsion Production: Ultrasounds, Microfluidizer, and Premix Membrane Emulsification.

Alliod O, Almouazen E, Nemer G, Fessi H, Charcosset C.

J Pharm Sci. 2019 Aug;108(8):2708-2717. doi: 10.1016/j.xphs.2019.03.026. Epub 2019 Apr 1.

PMID:
30946842
10.

A Cautious Note on Thalidomide Usage in Cancer Treatment: Genetic Profiling of the TBX2 Sub-Family Gene Expression is Required.

Nemer G, Khalil A.

Drug Res (Stuttg). 2019 Sep;69(9):512-518. doi: 10.1055/a-0873-3529. Epub 2019 Apr 1. Review.

PMID:
30934098
11.

Epigenetic Suppression of the T-box Subfamily 2 (TBX2) in Human Non-Small Cell Lung Cancer.

Nehme E, Rahal Z, Sinjab A, Khalil A, Chami H, Nemer G, Kadara H.

Int J Mol Sci. 2019 Mar 7;20(5). pii: E1159. doi: 10.3390/ijms20051159.

12.

Unusual presentation of severe photosensitivity and neurodevelopmental delay in a consanguineous family.

Al-Hage J, Nemer G, Kassabian P, Kurban M.

Clin Exp Dermatol. 2020 Jan;45(1):117-119. doi: 10.1111/ced.13948. Epub 2019 Mar 12. No abstract available.

PMID:
30861571
13.

Non-familial cardiomyopathies in Lebanon: exome sequencing results for five idiopathic cases.

Refaat MM, Hassanieh S, Ballout JA, Zakka P, Hotait M, Khalil A, Bitar F, Arabi M, Arnaout S, Skouri H, Abchee A, Abi-Saleh B, Khoury M, Massouras A, Nemer G.

BMC Med Genomics. 2019 Feb 14;12(1):33. doi: 10.1186/s12920-019-0478-7.

14.

Degenerated hair follicle cells and partial loss of sebaceous and eccrine glands in a familial case of axenfeld-rieger syndrome: An emerging role for the FOXC1/NFATC1 genetic axis.

Hariri H, Kurban M, Al-Haddad C, Fahed AC, Poladian S, Khalil A, Abbas O, Arabi M, Bitar F, Nemer G.

J Dermatol Sci. 2018 Dec;92(3):237-244. doi: 10.1016/j.jdermsci.2018.11.003. Epub 2018 Nov 10.

PMID:
30514661
15.

Transcriptomic Alterations in Lung Adenocarcinoma Unveil New Mechanisms Targeted by the TBX2 Subfamily of Tumor Suppressor Genes.

Khalil A, Dekmak B, Boulos F, Kantrowitz J, Spira A, Fujimoto J, Kadara H, El-Hachem N, Nemer G.

Front Oncol. 2018 Oct 30;8:482. doi: 10.3389/fonc.2018.00482. eCollection 2018.

16.

A novel mutation in the HPGD gene results in the unusual phenotype of palmoplantar keratoderma with digital clubbing and hyperhidrosis.

Stephan C, Hanna E, Nemer G, Abbas O, Kurban M.

JAAD Case Rep. 2018 Oct 12;4(9):950-952. doi: 10.1016/j.jdcr.2018.07.007. eCollection 2018 Oct. No abstract available.

17.

Mutation in the SR6 region of desmoplakin is associated with pustular psoriasiform rash and left ventricular dysfunction.

Tayeh C, Al-Hage J, Bitar F, Nemer G, Abbas O, Kurban M.

Int J Dermatol. 2019 Jun;58(6):742-744. doi: 10.1111/ijd.14242. Epub 2018 Sep 19. Review. No abstract available.

PMID:
30229874
18.

Use of Topical Glycolic Acid Plus a Lovastatin-Cholesterol Combination Cream for the Treatment of Autosomal Recessive Congenital Ichthyoses.

Khalil S, Bardawil T, Saade S, Chedraoui A, Ramadan N, Hasbani DJ, Abbas O, Nemer G, Rubeiz N, Kurban M.

JAMA Dermatol. 2018 Nov 1;154(11):1320-1323. doi: 10.1001/jamadermatol.2018.2904.

19.

SuPAR, an emerging biomarker in kidney and inflammatory diseases.

Hamie L, Daoud G, Nemer G, Nammour T, El Chediak A, Uthman IW, Kibbi AG, Eid A, Kurban M.

Postgrad Med J. 2018 Sep;94(1115):517-524. doi: 10.1136/postgradmedj-2018-135839. Epub 2018 Sep 3. Review.

PMID:
30177549
20.

Inherited Cardiomyopathies and the Role of Mutations in Non-coding Regions of the Genome.

Salman OF, El-Rayess HM, Abi Khalil C, Nemer G, Refaat MM.

Front Cardiovasc Med. 2018 Jun 26;5:77. doi: 10.3389/fcvm.2018.00077. eCollection 2018. Review.

21.

Hyperphosphatemic familial tumoral calcinosis secondary to fibroblast growth factor 23 (FGF23) mutation: a report of two affected families and review of the literature.

Chakhtoura M, Ramnitz MS, Khoury N, Nemer G, Shabb N, Abchee A, Berberi A, Hourani M, Collins M, Ichikawa S, El Hajj Fuleihan G.

Osteoporos Int. 2018 Sep;29(9):1987-2009. doi: 10.1007/s00198-018-4574-x. Epub 2018 Jun 20. Review.

PMID:
29923062
22.

Clinical and genetic characteristics of pulmonary arterial hypertension in Lebanon.

Abou Hassan OK, Haidar W, Nemer G, Skouri H, Haddad F, BouAkl I.

BMC Med Genet. 2018 May 30;19(1):89. doi: 10.1186/s12881-018-0608-7.

23.

Genome-Wide Gene Expression Changes in the Normal-Appearing Airway during the Evolution of Smoking-Associated Lung Adenocarcinoma.

Kantrowitz J, Sinjab A, Xu L, McDowell TL, Sivakumar S, Lang W, Nunomura-Nakamura S, Fukuoka J, Nemer G, Darwiche N, Chami H, Tfayli A, Wistuba II, Scheet P, Fujimoto J, Spira AE, Kadara H.

Cancer Prev Res (Phila). 2018 Apr;11(4):237-248. doi: 10.1158/1940-6207.CAPR-17-0295. Epub 2018 Jan 30.

24.

A Novel Role for CSRP1 in a Lebanese Family with Congenital Cardiac Defects.

Kamar A, Fahed AC, Shibbani K, El-Hachem N, Bou-Slaiman S, Arabi M, Kurban M, Seidman JG, Seidman CE, Haidar R, Baydoun E, Nemer G, Bitar F.

Front Genet. 2017 Dec 18;8:217. doi: 10.3389/fgene.2017.00217. eCollection 2017.

25.

Tooth Development Associated with Mutations in Hereditary Vitamin D-Resistant Rickets.

Hanna AE, Sanjad S, Andary R, Nemer G, Ghafari JG.

JDR Clin Trans Res. 2018 Jan;3(1):28-34. doi: 10.1177/2380084417732510. Epub 2017 Sep 20.

PMID:
30938651
26.

SLURP-1 is mutated in Mal de Meleda, a potential molecular signature for melanoma and a putative squamous lineage tumor suppressor gene.

Bergqvist C, Kadara H, Hamie L, Nemer G, Safi R, Karouni M, Marrouche N, Abbas O, Hasbani DJ, Kibbi AG, Nassar D, Shimomura Y, Kurban M.

Int J Dermatol. 2018 Feb;57(2):162-170. doi: 10.1111/ijd.13850. Epub 2017 Dec 12.

PMID:
29231248
27.

FOXI2: a possible gene contributing to ectodermal dysplasia.

Kurban M, Zeineddine SB, Hamie L, Safi R, Abbas O, Kibbi AG, Bitar F, Nemer G.

Eur J Dermatol. 2017 Dec 1;27(6):641-645. doi: 10.1684/ejd.2017.3130.

PMID:
29165300
28.

A Novel Mutation in FOXC1 in a Lebanese Family with Congenital Heart Disease and Anterior Segment Dysgenesis: Potential Roles for NFATC1 and DPT in the Phenotypic Variations.

Khalil A, Al-Haddad C, Hariri H, Shibbani K, Bitar F, Kurban M, Nemer G, Arabi M.

Front Cardiovasc Med. 2017 Sep 20;4:58. doi: 10.3389/fcvm.2017.00058. eCollection 2017.

29.

TBX2 subfamily suppression in lung cancer pathogenesis: a high-potential marker for early detection.

Khalil AA, Sivakumar S, Lucas FAS, McDowell T, Lang W, Tabata K, Fujimoto J, Yatabe Y, Spira A, Scheet P, Nemer G, Kadara H.

Oncotarget. 2017 Aug 4;8(40):68230-68241. doi: 10.18632/oncotarget.19938. eCollection 2017 Sep 15.

30.

Premature Valvular Heart Disease in Homozygous Familial Hypercholesterolemia.

Fahed AC, Shibbani K, Andary RR, Arabi MT, Habib RH, Nguyen DD, Haddad FF, Moubarak E, Nemer G, Azar ST, Bitar FF.

Cholesterol. 2017;2017:3685265. doi: 10.1155/2017/3685265. Epub 2017 Jul 6.

31.

Mutations in the ABCG8 gene are associated with sitosterolaemia in the homozygous form and xanthelasmas in the heterozygous form.

Bardawil T, Rebeiz A, Chaabouni M, El Halabi J, Kambris Z, Abbas O, Abou Hassan O, Hamie L, Bitar F, Ghani Kibbi A, Nemer G, Kurban M.

Eur J Dermatol. 2017 Oct 1;27(5):519-523. doi: 10.1684/ejd.2017.3087.

PMID:
28739549
32.

Understanding the phenotypic similarities between IFAP and Olmsted syndrome from a molecular perspective: the interaction of MBTPS2 and TRPV3.

Nemer G, Safi R, Kreidieh F, Usta J, Bergqvist C, Ballout F, Btadini W, Hamzeh N, Abbas O, Kibbi AG, Shimomura Y, Kurban M.

Arch Dermatol Res. 2017 Oct;309(8):637-643. doi: 10.1007/s00403-017-1762-z. Epub 2017 Jul 17.

PMID:
28717930
33.

AutoDock and AutoDockTools for Protein-Ligand Docking: Beta-Site Amyloid Precursor Protein Cleaving Enzyme 1(BACE1) as a Case Study.

El-Hachem N, Haibe-Kains B, Khalil A, Kobeissy FH, Nemer G.

Methods Mol Biol. 2017;1598:391-403. doi: 10.1007/978-1-4939-6952-4_20.

PMID:
28508374
34.

Efficient and Accurate Algorithm for Cleaved Fragments Prediction (CFPA) in Protein Sequences Dataset Based on Consensus and Its Variants: A Novel Degradomics Prediction Application.

El-Assaad A, Dawy Z, Nemer G, Hajj H, Kobeissy FH.

Methods Mol Biol. 2017;1598:329-352. doi: 10.1007/978-1-4939-6952-4_17.

PMID:
28508371
35.

A HAND to TBX5 Explains the Link Between Thalidomide and Cardiac Diseases.

Khalil A, Tanos R, El-Hachem N, Kurban M, Bouvagnet P, Bitar F, Nemer G.

Sci Rep. 2017 May 3;7(1):1416. doi: 10.1038/s41598-017-01641-3.

36.

The OTOGL p.Arg925* Variant is Associated with Moderate Hearing Loss in a Syrian Nonconsanguineous Family.

Barake R, Abou-Rizk S, Nemer G, Bassim M.

Genet Test Mol Biomarkers. 2017 Jul;21(7):445-449. doi: 10.1089/gtmb.2016.0406. Epub 2017 Apr 20.

PMID:
28426234
37.

Retinoids: a journey from the molecular structures and mechanisms of action to clinical uses in dermatology and adverse effects.

Khalil S, Bardawil T, Stephan C, Darwiche N, Abbas O, Kibbi AG, Nemer G, Kurban M.

J Dermatolog Treat. 2017 Dec;28(8):684-696. doi: 10.1080/09546634.2017.1309349. Epub 2017 Apr 2. Review.

PMID:
28318351
38.

Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes.

Andary R, El-Hage-Sleiman AK, Farhat T, Sanjad S, Nemer G.

J Pediatr Endocrinol Metab. 2017 Apr 1;30(4):437-444. doi: 10.1515/jpem-2016-0338.

PMID:
28301319
39.

A novel mutation in the RSPO4 gene in a patient with autosomal recessive anonychia.

Khalil S, Hayashi R, Daou L, Staiteieh SA, Abbas O, Bergqvist C, Nemer G, Shimomura Y, Kurban M.

Clin Exp Dermatol. 2017 Apr;42(3):313-315. doi: 10.1111/ced.13052. Epub 2017 Mar 1.

PMID:
28247548
40.

Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis.

Shigehara Y, Okuda S, Nemer G, Chedraoui A, Hayashi R, Bitar F, Nakai H, Abbas O, Daou L, Abe R, Sleiman MB, Kibbi AG, Kurban M, Shimomura Y.

Hum Mol Genet. 2016 Oct 15;25(20):4484-4493. doi: 10.1093/hmg/ddw277.

PMID:
28173123
41.
42.

Erythropoietic protoporphyria a clinical and molecular study from Lebanon: Ferrochelatase a potential tumor suppressor gene in colon cancer.

Kadara H, Nemer G, Safi R, Rebeiz N, Daou L, Delbani D, Btadini W, Abbas O, Tofaili M, Bitar F, Kibbi AG, Shimomura Y, Kurban M.

Clin Genet. 2017 Nov;92(5):495-502. doi: 10.1111/cge.12968. Epub 2017 Aug 2.

PMID:
28075030
43.

Genetics of inherited cardiocutaneous syndromes: a review.

Bardawil T, Khalil S, Bergqvist C, Abbas O, Kibbi AG, Bitar F, Nemer G, Kurban M.

Open Heart. 2016 Nov 22;3(2):e000442. eCollection 2016. Review.

44.

Linezolid Toxicity and Mitochondrial Susceptibility: A Novel Neurological Complication in a Lebanese Patient.

Abou Hassan OK, Karnib M, El-Khoury R, Nemer G, Ahdab-Barmada M, BouKhalil P.

Front Pharmacol. 2016 Sep 20;7:325. eCollection 2016.

45.

Identification of a novel mutation in the LOR gene in an Iraqi patient with loricrin keratoderma resembling epidermolytic hyperkeratosis.

Khalil S, Daou L, Hayashi R, Abbas O, Nemer G, Saadeh D, Shimomura Y, Kurban M.

J Eur Acad Dermatol Venereol. 2017 Mar;31(3):e142-e144. doi: 10.1111/jdv.13882. Epub 2016 Aug 13. No abstract available.

PMID:
27520397
46.

Variable expressivity and co-occurrence of LDLR and LDLRAP1 mutations in familial hypercholesterolemia: failure of the dominant and recessive dichotomy.

Fahed AC, Khalaf R, Salloum R, Andary RR, Safa R, El-Rassy I, Moubarak E, Azar ST, Bitar FF, Nemer G.

Mol Genet Genomic Med. 2016 Feb 24;4(3):283-91. doi: 10.1002/mgg3.203. eCollection 2016 May.

47.

GATA5 mutation homozygosity linked to a double outlet right ventricle phenotype in a Lebanese patient.

Kassab K, Hariri H, Gharibeh L, Fahed AC, Zein M, El-Rassy I, Nemer M, El-Rassi I, Bitar F, Nemer G.

Mol Genet Genomic Med. 2015 Dec 20;4(2):160-71. doi: 10.1002/mgg3.190. eCollection 2016 Mar.

48.

The Muscle-Bound Heart.

Refaat MM, Fahed AC, Hassanieh S, Hotait M, Arabi M, Skouri H, Seidman JG, Seidman CE, Bitar FF, Nemer G.

Card Electrophysiol Clin. 2016 Mar;8(1):223-31. doi: 10.1016/j.ccep.2015.10.034. Review.

49.

A novel heterozygous mutation in desmoplakin gene in a Lebanese patient with Carvajal syndrome and tooth agenesis.

Bitar F, Najjar T, Hayashi R, Nemer G, Shigehara Y, Hamie L, Abbas O, Kibbi AG, Shimomura Y, Kurban M.

J Eur Acad Dermatol Venereol. 2016 Dec;30(12):e217-e219. doi: 10.1111/jdv.13549. Epub 2016 Feb 1. No abstract available.

PMID:
26833927
50.

Electrostatic study of Alanine mutational effects on transcription: application to GATA-3:DNA interaction complex.

El-Assaad A, Dawy Z, Nemer G.

Conf Proc IEEE Eng Med Biol Soc. 2015;2015:4005-8. doi: 10.1109/EMBC.2015.7319272.

PMID:
26737172

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