Chantal Farra

Chantal Farra

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Chantal Farra

Chantal Farra

Publications by authors named "Chantal Farra"

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

Clin Breast Cancer 2019 Oct 18;19(5):340-344. Epub 2019 May 18.

Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15268209183084
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http://dx.doi.org/10.1016/j.clbc.2019.04.017DOI Listing
October 2019

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

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

Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center , Beirut , Lebanon.

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http://dx.doi.org/10.1080/08880018.2019.1648622DOI Listing
October 2019

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

Mol Biol Rep 2019 Oct 8. Epub 2019 Oct 8.

Department of Obstetrics and Gynecology, American University of Beirut Medical Center, Beirut, Lebanon.

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http://dx.doi.org/10.1007/s11033-019-05117-7DOI Listing
October 2019

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

Authors:
Michael T Parsons Emma Tudini Hongyan Li Eric Hahnen Barbara Wappenschmidt Lidia Feliubadaló Cora M Aalfs Simona Agata Kristiina Aittomäki Elisa Alducci María Concepción Alonso-Cerezo Norbert Arnold Bernd Auber Rachel Austin Jacopo Azzollini Judith Balmaña Elena Barbieri Claus R Bartram Ana Blanco Britta Blümcke Sandra Bonache Bernardo Bonanni Åke Borg Beatrice Bortesi Joan Brunet Carla Bruzzone Karolin Bucksch Giulia Cagnoli Trinidad Caldés Almuth Caliebe Maria A Caligo Mariarosaria Calvello Gabriele L Capone Sandrine M Caputo Ileana Carnevali Estela Carrasco Virginie Caux-Moncoutier Pietro Cavalli Giulia Cini Edward M Clarke Paola Concolino Elisa J Cops Laura Cortesi Fergus J Couch Esther Darder Miguel de la Hoya Michael Dean Irmgard Debatin Jesús Del Valle Capucine Delnatte Nicolas Derive Orland Diez Nina Ditsch Susan M Domchek Véronique Dutrannoy Diana M Eccles Hans Ehrencrona Ute Enders D Gareth Evans Chantal Farra Ulrike Faust Ute Felbor Irene Feroce Miriam Fine William D Foulkes Henrique C R Galvao Gaetana Gambino Andrea Gehrig Francesca Gensini Anne-Marie Gerdes Aldo Germani Jutta Giesecke Viviana Gismondi Carolina Gómez Encarna B Gómez Garcia Sara González Elia Grau Sabine Grill Eva Gross Aliana Guerrieri-Gonzaga Marine Guillaud-Bataille Sara Gutiérrez-Enríquez Thomas Haaf Karl Hackmann Thomas V O Hansen Marion Harris Jan Hauke Tilman Heinrich Heide Hellebrand Karen N Herold Ellen Honisch Judit Horvath Claude Houdayer Verena Hübbel Silvia Iglesias Angel Izquierdo Paul A James Linda A M Janssen Udo Jeschke Silke Kaulfuß Katharina Keupp Marion Kiechle Alexandra Kölbl Sophie Krieger Torben A Kruse Anders Kvist Fiona Lalloo Mirjam Larsen Vanessa L Lattimore Charlotte Lautrup Susanne Ledig Elena Leinert Alexandra L Lewis Joanna Lim Markus Loeffler Adrià López-Fernández Emanuela Lucci-Cordisco Nicolai Maass Siranoush Manoukian Monica Marabelli Laura Matricardi Alfons Meindl Rodrigo D Michelli Setareh Moghadasi Alejandro Moles-Fernández Marco Montagna Gemma Montalban Alvaro N Monteiro Eva Montes Luigi Mori Lidia Moserle Clemens R Müller Christoph Mundhenke Nadia Naldi Katherine L Nathanson Matilde Navarro Heli Nevanlinna Cassandra B Nichols Dieter Niederacher Henriette R Nielsen Kai-Ren Ong Nicholas Pachter Edenir I Palmero Laura Papi Inge Sokilde Pedersen Bernard Peissel Pedro Perez-Segura Katharina Pfeifer Marta Pineda Esther Pohl-Rescigno Nicola K Poplawski Berardino Porfirio Anne S Quante Juliane Ramser Rui M Reis Françoise Revillion Kerstin Rhiem Barbara Riboli Julia Ritter Daniela Rivera Paula Rofes Andreas Rump Monica Salinas Ana María Sánchez de Abajo Gunnar Schmidt Ulrike Schoenwiese Jochen Seggewiß Ares Solanes Doris Steinemann Mathias Stiller Dominique Stoppa-Lyonnet Kelly J Sullivan Rachel Susman Christian Sutter Sean V Tavtigian Soo H Teo Alex Teulé Mads Thomassen Maria Grazia Tibiletti Marc Tischkowitz Silvia Tognazzo Amanda E Toland Eva Tornero Therese Törngren Sara Torres-Esquius Angela Toss Alison H Trainer Katherine M Tucker Christi J van Asperen Marion T van Mackelenbergh Liliana Varesco Gardenia Vargas-Parra Raymonda Varon Ana Vega Ángela Velasco Anne-Sophie Vesper Alessandra Viel Maaike P G Vreeswijk Sebastian A Wagner Anke Waha Logan C Walker Rhiannon J Walters Shan Wang-Gohrke Bernhard H F Weber Wilko Weichert Kerstin Wieland Lisa Wiesmüller Isabell Witzel Achim Wöckel Emma R Woodward Silke Zachariae Valentina Zampiga Christine Zeder-Göß KConFab Investigators Conxi Lázaro Arcangela De Nicolo Paolo Radice Christoph Engel Rita K Schmutzler David E Goldgar Amanda B Spurdle

Hum Mutat 2019 Sep;40(9):1557-1578

Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1002/humu.23818DOI Listing
September 2019

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

BMC Med Genet 2019 Sep 5;20(1):154. Epub 2019 Sep 5.

Division of Hematology Oncology, Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon.

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http://dx.doi.org/10.1186/s12881-019-0885-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6728935PMC
September 2019

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.

Mol Biol Rep 2019 Apr 30;46(2):2003-2011. Epub 2019 Jan 30.

Molecular Diagnostics Laboratory, Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, PO BOX 11-0236, Beirut, Lebanon.

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http://dx.doi.org/10.1007/s11033-019-04649-2DOI Listing
April 2019

Novel pleiotropic BRCA2 pathogenic variants in Lebanese families.

Cancer Genet 2019 Feb 30;231-232:32-35. Epub 2018 Dec 30.

Medical Genetics Unit, Department of Pathology & Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon. Electronic address:

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http://dx.doi.org/10.1016/j.cancergen.2018.12.005DOI Listing
February 2019

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

Hered Cancer Clin Pract 2019 18;17. Epub 2019 Jan 18.

2Division of Hematology-Oncology, Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon.

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https://hccpjournal.biomedcentral.com/articles/10.1186/s1305
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http://dx.doi.org/10.1186/s13053-019-0105-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6339325PMC
January 2019

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

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

Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon.

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https://www.karger.com/Article/FullText/447648
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http://dx.doi.org/10.1159/000447648DOI Listing
January 2018

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

Ann Thorac Med 2017 Oct-Dec;12(4):290-293

Department of Pathology and Laboratory Medicine, Medical Genetics Unit, American University of Beirut Medical Center, Beirut, Lebanon.

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http://dx.doi.org/10.4103/atm.ATM_76_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656949PMC
November 2017

Genotype/Phenotype Correlation in Primary Congenital Glaucoma Patients in the Lebanese Population: A Pilot Study.

Ophthalmic Genet 2016 18;37(1):31-6. Epub 2014 Jun 18.

b Department of Pathology and Laboratory Medicine , Medical Genetics, American University of Beirut Medical Center , Beirut , Lebanon.

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http://www.tandfonline.com/doi/full/10.3109/13816810.2014.92
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http://dx.doi.org/10.3109/13816810.2014.924015DOI Listing
September 2016

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

Biomed Res Int 2015 5;2015:517679. Epub 2015 Mar 5.

Department of Pediatrics & Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon.

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http://dx.doi.org/10.1155/2015/517679DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4365311PMC
December 2015

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

Case Rep Genet 2015 30;2015:528481. Epub 2015 Apr 30.

Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, P.O. Box 11-0236 Riad El Solh, Beirut 1107 2020, Lebanon ; Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, P.O. Box 11-0236 Riad El Solh, Beirut 1107 2020, Lebanon.

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http://dx.doi.org/10.1155/2015/528481DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4430639PMC
June 2015

Alpha thalassemia allelic frequency in Lebanon.

Pediatr Blood Cancer 2015 Jan 4;62(1):120-2. Epub 2014 Oct 4.

Department of Pathology & Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon; Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon.

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http://dx.doi.org/10.1002/pbc.25242DOI Listing
January 2015

Dubowitz syndrome: common findings and peculiar urine odor.

Appl Clin Genet 2013 8;6:87-90. Epub 2013 Oct 8.

Department of pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon.

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http://dx.doi.org/10.2147/TACG.S47777DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3805180PMC
October 2013

A Lebanese family with autosomal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: is OAV a genetically heterogeneous disorder?

Appl Clin Genet 2011 6;4:93-7. Epub 2011 Jul 6.

Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon ; Department of Pathology, American University of Beirut Medical Center, Beirut, Lebanon.

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http://dx.doi.org/10.2147/TACG.S12643DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3681181PMC
June 2013

Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations.

Am J Med Genet A 2013 Jun 23;161A(6):1354-69. Epub 2013 Apr 23.

Instituto de Investigaciones Biomédicas, Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Madrid, Spain.

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http://dx.doi.org/10.1002/ajmg.a.35938DOI Listing
June 2013

Fever in women may interfere with follicular development during controlled ovarian stimulation.

Int J Hyperthermia 2012 16;28(8):742-6. Epub 2012 Oct 16.

Department of Obstetrics and Gynecology, American University of Beirut Medical Center, Beirut, Lebanon.

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http://www.tandfonline.com/doi/full/10.3109/02656736.2012.72
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http://dx.doi.org/10.3109/02656736.2012.724516DOI Listing
April 2013

Split daily recombinant human LH dose in hypogonadotrophic hypogonadism: a nonrandomized controlled pilot study.

Reprod Biomed Online 2013 Jan 4;26(1):88-92. Epub 2012 Oct 4.

Department of Obstetrics and Gynecology, American University of Beirut Medical Center, Beirut, Lebanon.

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http://dx.doi.org/10.1016/j.rbmo.2012.09.016DOI Listing
January 2013

Abdominal Wall Desmoid during Pregnancy: Diagnostic Challenges.

Case Rep Obstet Gynecol 2013 3;2013:350894. Epub 2013 Jan 3.

Department of Obstetrics and Gynecology, American University of Beirut Medical Center, P.O. Box 113-6044, Beirut, Lebanon.

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http://dx.doi.org/10.1155/2013/350894DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3549390PMC
January 2013

An investigational ovarian stimulation protocol increased significantly the psychological burden in women with premature ovarian failure.

Acta Obstet Gynecol Scand 2012 Nov;91(11):1273-8

Department of Obstetrics and Gynecology, American University of Beirut Medical Center, Beirut, Lebanon.

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http://dx.doi.org/10.1111/aogs.12004DOI Listing
November 2012

Implementation of an intensive risk-stratified treatment protocol for children and adolescents with acute lymphoblastic leukemia in Lebanon.

Am J Hematol 2012 Jul 6;87(7):678-83. Epub 2012 May 6.

Department of Pediatrics and Adolescent Medicine, Children's Cancer Center of Lebanon, American University of Beirut Medical Center, Beirut, Lebanon.

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http://dx.doi.org/10.1002/ajh.23222DOI Listing
July 2012

De novo exceptional complex chromosomal rearrangement in a healthy fertile male: case report and review of the literature.

Fertil Steril 2011 Nov;96(5):1160-4

Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon.

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http://dx.doi.org/10.1016/j.fertnstert.2011.07.1114DOI Listing
November 2011

Intestinal polypoid arteriovenous malformation: unusual presentation in a child and review of the literature.

Acta Paediatr 2011 Sep 2;100(9):e141-4. Epub 2011 Mar 2.

Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon.

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http://dx.doi.org/10.1111/j.1651-2227.2011.02203.xDOI Listing
September 2011

Mutational spectrum of cystic fibrosis in the Lebanese population.

J Cyst Fibros 2010 Dec 25;9(6):406-10. Epub 2010 Aug 25.

Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon.

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http://dx.doi.org/10.1016/j.jcf.2010.08.001DOI Listing
December 2010

Goldenhar syndrome associated with prenatal maternal Fluoxetine ingestion: Cause or coincidence?

Birth Defects Res A Clin Mol Teratol 2010 Jul;88(7):582-5

Department of Pediatrics, American University of Beirut Medical Center, Lebanon.

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http://dx.doi.org/10.1002/bdra.20674DOI Listing
July 2010

TNF polymorphisms in patients with Behçet disease: a meta-analysis.

Arch Med Res 2010 Feb 24;41(2):142-6. Epub 2010 Mar 24.

Department of Internal Medicine, Division of Rheumatology, University of Toronto, Toronto Western Hospital, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.arcmed.2010.02.002DOI Listing
February 2010

Two new familial severe infantile spasm syndromes in males.

Epilepsy Behav 2009 Apr 20;14(4):696-700. Epub 2009 Feb 20.

Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon.

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http://dx.doi.org/10.1016/j.yebeh.2009.02.011DOI Listing
April 2009

Cystic fibrosis: a new mutation in the Lebanese population.

J Cyst Fibros 2008 Sep 2;7(5):429-32. Epub 2008 May 2.

Genetics Laboratory, Chronic Care Center, Hazmieh, Lebanon.

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http://dx.doi.org/10.1016/j.jcf.2008.03.003DOI Listing
September 2008

Familial infantile pyknocytosis in association with pulmonary hypertension.

Pediatr Blood Cancer 2008 Aug;51(2):290-2

Children's Cancer Center of Lebanon, American University of Beirut Medical Center, Beirut, Lebanon.

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http://dx.doi.org/10.1002/pbc.21583DOI Listing
August 2008

Novel human pathological mutations. Gene symbol: CFTR. Disease: cystic fibrosis.

Hum Genet 2007 Dec;122(5):553

American University of Beirut Medical Center, Pediatrics, Pediatric Departement, AUBMC, POBOX113-6044, 0236, Beirut, Lebanon.

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December 2007

A patient with duplication (7)(p22.1pter) characterized by array-CGH.

Am J Med Genet A 2007 Jan;143A(2):168-71

Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon.

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http://dx.doi.org/10.1002/ajmg.a.31511DOI Listing
January 2007

Alternative pathways of MYCN gene copy number increase in primary neuroblastoma tumors.

Cancer Genet Cytogenet 2004 Aug;153(1):10-5

Laboratoire de Génomique Cellulaire des Cancers, Institut Gustave Roussy, Unité Mixte de Recherche 8125, Centre National de la Recherche Scientifique, rue Camille Desmoulins 39, 94805 Villejuif Cedex, France.

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http://dx.doi.org/10.1016/j.cancergencyto.2003.12.007DOI Listing
August 2004

Human chromosome 7: DNA sequence and biology.

Science 2003 May 10;300(5620):767-72. Epub 2003 Apr 10.

Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8.

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http://dx.doi.org/10.1126/science.1083423DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2882961PMC
May 2003

Congenital bowing of long bones: prenatal ultrasound findings and diagnostic dilemmas.

Fetal Diagn Ther 2002 Jul-Aug;17(4):236-9

Centre de diagnostic prénatal, Département de Génétique médicale, Hôpital d'Enfants de la Timone, Assistance publique des Hôpitaux de Marseille, F-13385 Marseille Cedex 5, France.

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http://dx.doi.org/10.1159/000059376DOI Listing
January 2003