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Items: 1 to 20 of 60

1.

BACs-on-Beads™ assay, a rapid aneuploidy test, improves the diagnostic yield of conventional karyotyping.

Farra C, Nassar AH, Mirza F, Abdouni L, Souaid M, Awwad J.

Mol Biol Rep. 2020 Jan;47(1):169-177. doi: 10.1007/s11033-019-05117-7. Epub 2019 Oct 8.

PMID:
31595440
2.

BRCA mutations in a cohort of Iraqi patients presenting to a tertiary referral center.

Farra C, Dagher C, Hamadeh L, El Saghir N, Mukherji D.

BMC Med Genet. 2019 Sep 5;20(1):154. doi: 10.1186/s12881-019-0885-9.

3.

Acquired centromeric heteromorphism of chromosome 7 yields discordant results between fluorescent in situ hybridization and karyotype analysis in a child with severe congenital neutropenia.

Farra C, Raimondi S, Abboud M.

Pediatr Hematol Oncol. 2019 Oct;36(7):432-437. doi: 10.1080/08880018.2019.1648622. Epub 2019 Aug 14.

PMID:
31411529
4.

The Impact of Partial Weak Staining in Normal Breast Epithelium on the Reliability of Immunohistochemistry Results in HercepTest-positive Breast Cancer.

Farra C, Fedda F, Tfayli A, Tawil A, Zaatari G, Ashkar H, Issa G, Boulos F.

Clin Breast Cancer. 2019 Oct;19(5):340-344. doi: 10.1016/j.clbc.2019.04.017. Epub 2019 May 18.

PMID:
31213407
5.

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, Borg Å, Bortesi B, Brunet J, Bruzzone C, Bucksch K, Cagnoli G, Caldés T, Caliebe A, Caligo MA, Calvello M, Capone GL, Caputo SM, Carnevali I, Carrasco E, Caux-Moncoutier V, Cavalli P, Cini G, Clarke EM, Concolino P, Cops EJ, Cortesi L, Couch FJ, Darder E, de la Hoya M, Dean M, Debatin I, Del Valle J, Delnatte C, Derive N, Diez O, Ditsch N, Domchek SM, Dutrannoy V, Eccles DM, Ehrencrona H, Enders U, Evans DG, Farra C, Faust U, Felbor U, Feroce I, Fine M, Foulkes WD, Galvao HCR, Gambino G, Gehrig A, Gensini F, Gerdes AM, Germani A, Giesecke J, Gismondi V, Gómez C, Gómez Garcia EB, González S, Grau E, Grill S, Gross E, Guerrieri-Gonzaga A, Guillaud-Bataille M, Gutiérrez-Enríquez S, Haaf T, Hackmann K, Hansen TVO, Harris M, Hauke J, Heinrich T, Hellebrand H, Herold KN, Honisch E, Horvath J, Houdayer C, Hübbel V, Iglesias S, Izquierdo A, James PA, Janssen LAM, Jeschke U, Kaulfuß S, Keupp K, Kiechle M, Kölbl A, Krieger S, Kruse TA, Kvist A, Lalloo F, Larsen M, Lattimore VL, Lautrup C, Ledig S, Leinert E, Lewis AL, Lim J, Loeffler M, López-Fernández A, Lucci-Cordisco E, Maass N, Manoukian S, Marabelli M, Matricardi L, Meindl A, Michelli RD, Moghadasi S, Moles-Fernández A, Montagna M, Montalban G, Monteiro AN, Montes E, Mori L, Moserle L, Müller CR, Mundhenke C, Naldi N, Nathanson KL, Navarro M, Nevanlinna H, Nichols CB, Niederacher D, Nielsen HR, Ong KR, Pachter N, Palmero EI, Papi L, Pedersen IS, Peissel B, Perez-Segura P, Pfeifer K, Pineda M, Pohl-Rescigno E, Poplawski NK, Porfirio B, Quante AS, Ramser J, Reis RM, Revillion F, Rhiem K, Riboli B, Ritter J, Rivera D, Rofes P, Rump A, Salinas M, Sánchez de Abajo AM, Schmidt G, Schoenwiese U, Seggewiß J, Solanes A, Steinemann D, Stiller M, Stoppa-Lyonnet D, Sullivan KJ, Susman R, Sutter C, Tavtigian SV, Teo SH, Teulé A, Thomassen M, Tibiletti MG, Tischkowitz M, Tognazzo S, Toland AE, Tornero E, Törngren T, Torres-Esquius S, Toss A, Trainer AH, Tucker KM, van Asperen CJ, van Mackelenbergh MT, Varesco L, Vargas-Parra G, Varon R, Vega A, Velasco Á, Vesper AS, Viel A, Vreeswijk MPG, Wagner SA, Waha A, Walker LC, Walters RJ, Wang-Gohrke S, Weber BHF, Weichert W, Wieland K, Wiesmüller L, Witzel I, Wöckel A, Woodward ER, Zachariae S, Zampiga V, Zeder-Göß C; KConFab Investigators, Lázaro C, De Nicolo A, Radice P, Engel C, Schmutzler RK, Goldgar DE, Spurdle AB.

Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818.

6.

Novel pleiotropic BRCA2 pathogenic variants in Lebanese families.

El-Khoury R, Hajj M, Khraibani J, Audi E, Monsef C, Farra C.

Cancer Genet. 2019 Feb;231-232:32-35. doi: 10.1016/j.cancergen.2018.12.005. Epub 2018 Dec 30.

PMID:
30803554
7.

Molecular profiling of adult acute myeloid and lymphoid leukemia in a major referral center in Lebanon: a 10-year experience report and review of the literature.

Assaf N, El-Cheikh J, Bazarbachi A, Salem Z, Farra C, Chakhachiro Z, Nassif S, Zaatari G, Mahfouz R.

Mol Biol Rep. 2019 Apr;46(2):2003-2011. doi: 10.1007/s11033-019-04649-2. Epub 2019 Jan 30.

PMID:
30701458
8.

BRCA mutation screening and patterns among high-risk Lebanese subjects.

Farra C, Dagher C, Badra R, Hammoud MS, Alameddine R, Awwad J, Seoud M, Abbas J, Boulos F, El Saghir N, Mukherji D.

Hered Cancer Clin Pract. 2019 Jan 18;17:4. doi: 10.1186/s13053-019-0105-9. eCollection 2019.

9.

Duplication of 10q24 locus: broadening the clinical and radiological spectrum.

Holder-Espinasse M, Jamsheer A, Escande F, Andrieux J, Petit F, Sowinska-Seidler A, Socha M, Jakubiuk-Tomaszuk A, Gerard M, Mathieu-Dramard M, Cormier-Daire V, Verloes A, Toutain A, Plessis G, Jonveaux P, Baumann C, David A, Farra C, Colin E, Jacquemont S, Rossi A, Mansour S, Ghali N, Moncla A, Lahiri N, Hurst J, Pollina E, Patch C, Ahn JW, Valat AS, Mezel A, Bourgeot P, Zhang D, Manouvrier-Hanu S.

Eur J Hum Genet. 2019 Apr;27(4):525-534. doi: 10.1038/s41431-018-0326-9. Epub 2019 Jan 8.

PMID:
30622331
10.

Corrigendum. Non-invasive pre-implantation genetic testing of human embryos: an emerging concept.

Farra C, Choucair F, Awwad J.

Hum Reprod. 2019 Mar 1;34(3):590. doi: 10.1093/humrep/dey385. No abstract available.

PMID:
30597000
11.

Char Syndrome a novel mutation and new insights: A clinical report.

Massaad E, Tfayli H, Awwad J, Nabulsi M, Farra C.

Eur J Med Genet. 2019 Dec;62(12):103607. doi: 10.1016/j.ejmg.2018.12.012. Epub 2018 Dec 21.

PMID:
30579973
12.

Non-invasive pre-implantation genetic testing of human embryos: an emerging concept.

Farra C, Choucair F, Awwad J.

Hum Reprod. 2018 Dec 1;33(12):2162-2167. doi: 10.1093/humrep/dey314. Review.

PMID:
30357338
13.

A novel cystic fibrosis gene mutation c.2490insT in a Palestinian patient: A case report and review of the literature.

Chami H, Arbid SA, Badra R, Farra C.

Ann Thorac Med. 2017 Oct-Dec;12(4):290-293. doi: 10.4103/atm.ATM_76_17.

14.

Dietary Zinc Intake and Plasma Zinc Concentrations in Children with Short Stature and Failure to Thrive.

Yazbeck N, Hanna-Wakim R, El Rafei R, Barhoumi A, Farra C, Daher RT, Majdalani M.

Ann Nutr Metab. 2016;69(1):9-14. doi: 10.1159/000447648. Epub 2016 Jul 8.

PMID:
27387367
15.

Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.

Trujillano D, Weiss ME, Köster J, Papachristos EB, Werber M, Kandaswamy KK, Marais A, Eichler S, Creed J, Baysal E, Jaber IY, Mehaney DA, Farra C, Rolfs A.

Mol Genet Genomic Med. 2015 Sep;3(5):396-403. doi: 10.1002/mgg3.149. Epub 2015 Apr 16.

16.

Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families.

Valencia M, Tabet L, Yazbeck N, Araj A, Ruiz-Perez VL, Charaffedine K, Fares F, Badra R, Farra C.

Case Rep Genet. 2015;2015:528481. doi: 10.1155/2015/528481. Epub 2015 Apr 30.

17.

Incidence of alpha-globin gene defect in the Lebanese population: a pilot study.

Farra C, Daher R, Badra R, el Rafei R, Bejjany R, Charafeddine L, Yunis K.

Biomed Res Int. 2015;2015:517679. doi: 10.1155/2015/517679. Epub 2015 Mar 5.

18.

Alpha thalassemia allelic frequency in Lebanon.

Farra C, Badra R, Fares F, Muwakkit S, Dbaibo G, Dabbous I, Ashkar H, Mounsef C, Abboud MR.

Pediatr Blood Cancer. 2015 Jan;62(1):120-2. doi: 10.1002/pbc.25242. Epub 2014 Oct 4.

PMID:
25284125
19.

The utilization of pre-implantation genetic testing in the absence of governance: a real-time experience.

Farra C, Nassar A, Arawi T, Ashkar H, Monsef C, Awwad J.

Clin Genet. 2014 Aug;86(2):177-80.

PMID:
25180400
20.

Pachydermoperiostosis genetic screening in Lebanese families uncovers a novel SLCO2A1mutation.

Saadeh D, Kurban M, Ghosn S, Btadini W, Nemer G, Arayssi T, Uthman I, Badra R, Farra C.

J Eur Acad Dermatol Venereol. 2015 Dec;29(12):2489-90. doi: 10.1111/jdv.12584. Epub 2014 Jul 25. No abstract available.

PMID:
25059581

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