Andre Megarbane

Andre Megarbane

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Andre Megarbane

Publications by authors named "Andre Megarbane"

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Mitochondrial DNA control region variation in Lebanon, Jordan, and Bahrain.

Forensic Sci Int Genet 2019 Sep 29;42:99-102. Epub 2019 Jun 29.

Institute of Legal Medicine, Medical University of Innsbruck, Innsbruck, Austria; Forensic Science Program, The Pennsylvania State University, University Park, PA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.fsigen.2019.06.020DOI Listing
September 2019

Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation.

Electrophoresis 2018 Dec 3;39(24):3123-3132. Epub 2018 Jul 3.

Service de Pharmacologie et d'Immunoanalyse, Laboratoire d'Etude du Métabolisme des Médicaments, CEA, INRA, Université Paris Saclay, Gif-sur-Yvette, France.

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http://doi.wiley.com/10.1002/elps.201800021
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http://dx.doi.org/10.1002/elps.201800021DOI Listing
December 2018

A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22).

Eur J Med Genet 2018 Nov 10. Epub 2018 Nov 10.

Centre for Arab Genomic Studies, Dubai, United Arab Emirates.

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http://dx.doi.org/10.1016/j.ejmg.2018.11.010DOI Listing
November 2018

RAC1 expression and role in IL-1β production and oxidative stress generation in familial Mediterranean fever (FMF) patients.

Eur Cytokine Netw 2018 Nov;29(4):127-135

Lebanese University, Faculty of Sciences II, Department of Life and Earth Sciences, Beirut, Lebanon.

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http://dx.doi.org/10.1684/ecn.2018.0416DOI Listing
November 2018

First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene.

BMC Med Genet 2018 09 10;19(1):161. Epub 2018 Sep 10.

Medical Genetics Unit, Faculty of medicine, Saint Joseph University (USJ), Damascus street, B.P. 17-5208, Mar Mikhaël, Beirut, 1104 2020, Lebanon.

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http://dx.doi.org/10.1186/s12881-018-0677-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6131905PMC
September 2018

Williams-Beuren syndrome in diverse populations.

Am J Med Genet A 2018 05;176(5):1128-1136

Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.

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http://doi.wiley.com/10.1002/ajmg.a.38672
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http://dx.doi.org/10.1002/ajmg.a.38672DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6007881PMC
May 2018

Atypical pyridoxine dependent epilepsy resulting from a new homozygous missense mutation, in ALDH7A1.

Seizure 2018 Apr 10;57:32-33. Epub 2018 Mar 10.

Institut Jérôme Lejeune, 37, rue des Volontaires, 75015 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.seizure.2018.03.010DOI Listing
April 2018

Homozygous microdeletion of the ERI1 and MFHAS1 genes in a patient with intellectual disability, limb abnormalities, and cardiac malformation.

Am J Med Genet A 2017 Jul 9;173(7):1955-1960. Epub 2017 May 9.

Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.

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http://dx.doi.org/10.1002/ajmg.a.38271DOI Listing
July 2017

Relationship between vitamin D receptor gene polymorphisms, cardiovascular risk factors and adiponectin in a healthy young population.

Pharmacogenomics 2016 10 27;17(15):1675-1686. Epub 2016 Sep 27.

Faculty of Medicine, Saint-Joseph University, Beirut, Lebanon.

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http://dx.doi.org/10.2217/pgs-2016-0045DOI Listing
October 2016

A Novel Alpha Cardiac Actin (ACTC1) Mutation Mapping to a Domain in Close Contact with Myosin Heavy Chain Leads to a Variety of Congenital Heart Defects, Arrhythmia and Possibly Midline Defects.

PLoS One 2015 10;10(6):e0127903. Epub 2015 Jun 10.

EA 4173, Université Lyon 1 and Hôpital Nord-Ouest, Lyon, France; Laboratoire Cardiogénétique Malformation, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, Bron, France; Service de Cardiologie Pédiatrique, Hôpital Louis Pradel, Hospices Civils de Lyon, Bron, France.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0127903PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4464657PMC
April 2016

"Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies.

Neurol Genet 2016 Apr 3;2(2):e61. Epub 2016 Mar 3.

CSS-Mendel Institute (M.R., T.M., E.M.V.), IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy; Division of Immunology (C.M.), Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA; Institut Jérôme Lejeune (A.M.), Paris, France; and Section of Neurosciences (E.M.V.), Department of Medicine and Surgery, University of Salerno, Salerno, Italy.

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http://dx.doi.org/10.1212/NXG.0000000000000061DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4830194PMC
April 2016

Reply: Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.

Brain 2016 Mar 10;139(Pt 3):e20. Epub 2015 Dec 10.

4 Department of Paediatric and Adolescent Medicine and Mayo Clinic Children's Centre, Mayo Clinic, Rochester, MN, USA.

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http://dx.doi.org/10.1093/brain/awv363DOI Listing
March 2016

Vibratory Urticaria Associated with a Missense Variant in ADGRE2.

N Engl J Med 2016 Feb 3;374(7):656-63. Epub 2016 Feb 3.

From the Inflammatory Disease Section, National Human Genome Research Institute (S.E.B., C.L.S., D.L.K.), Mast Cell Biology Section, National Institute of Allergy and Infectious Diseases, (A.D., G.C., H.C.B., L.M.S., A.R.E., A.O., D.D.M., H.D.K.), Laboratory of Pathology, National Cancer Institute (C.-C.R.L.), and National Institutes of Health (NIH) Intramural Sequencing Center, National Human Genome Research Institute (J.C.M.), NIH, Bethesda, and Clinical Research Directorate-Clinical Monitoring Research Program, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick (M.L.Y.) - both in Maryland; Veterinary Pathology Section, Rocky Mountain Laboratories, National Institute of Allergy and Infectious Diseases, NIH, Hamilton, MT (R.D.L.); the Department of Genetics, Yale University School of Medicine, New Haven, CT (A.J.P., K.K.K.); Medical Genetics Unit, Saint Joseph University, Beirut (E.C.) and Department of Life and Earth Sciences, Faculty of Sciences II, Lebanese University, Fanar (M.M.-H.) - both in Lebanon; and Institut Jérôme Lejeune, Paris (A.M.).

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http://dx.doi.org/10.1056/NEJMoa1500611DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4782791PMC
February 2016

Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay.

Eur J Med Genet 2015 Dec 11;58(12):637-41. Epub 2015 Nov 11.

Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon; Institut Jérôme Lejeune, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.11.005DOI Listing
December 2015

Study of the association of IL-1β and IL-1RA gene polymorphisms with occurrence and severity of Familial Mediterranean fever.

Eur J Med Genet 2015 Dec 14;58(12):668-73. Epub 2015 Nov 14.

ER030-EDST, Department of Life and Earth Sciences, Faculty of Sciences II, Lebanese University, Lebanon. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.11.007DOI Listing
December 2015

10q26.1 Microdeletion: Redefining the critical regions for microcephaly and genital anomalies.

Am J Med Genet A 2015 Nov 26;167A(11):2707-13. Epub 2015 Jun 26.

Unité de Génétique Médicale et Laboratoire Associé INSERM à l'Unité UMR_S 910, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.

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http://dx.doi.org/10.1002/ajmg.a.37211DOI Listing
November 2015

Genome-wide inbreeding estimation within Lebanese communities using SNP arrays.

Eur J Hum Genet 2015 Oct 26;23(10):1364-9. Epub 2014 Nov 26.

EA 2493 « pathologie cellulaire & génétique, de la conception à la naissance », Université de Versailles-Saint Quentin en Yvelines, Yvelines, France.

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http://www.nature.com/articles/ejhg2014246
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http://dx.doi.org/10.1038/ejhg.2014.246DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4592074PMC
October 2015

Pseudo-Guillain-Barré syndrome masking acute myeloid leukemia relapse: Brief report and review.

Leuk Res Rep 2015 17;4(2):42-4. Epub 2015 Jul 17.

Hematology-Oncology Department, Hotel Dieu de France Hospital, Faculty of Medicine, Saint Joseph University, Beirut, Lebanon.

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http://dx.doi.org/10.1016/j.lrr.2015.05.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4528047PMC
August 2015

Factor XIII deficiency revealed by spontaneous intramedullary hemorrhage: confirmation of a severe mutation.

Blood Coagul Fibrinolysis 2015 Jul;26(5):586-7

Hematology-Oncology Department, Faculty of Medicine, Saint Joseph University, Beirut, Lebanon.

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http://dx.doi.org/10.1097/MBC.0000000000000297DOI Listing
July 2015

Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability.

Mol Cytogenet 2015 16;8:39. Epub 2015 Jun 16.

Unité de Génétique Médicale et Laboratoire Associé INSERM à l'Unité UMR_S 910, Faculté de Médecine, Université Saint-Joseph, rue de Damas B.P. 17-5208 Mar Mikhael, Beyrouth, 11042020 Lebanon.

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http://dx.doi.org/10.1186/s13039-015-0149-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4469107PMC
June 2015

Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia.

Bone 2014 Nov 30;68:142-5. Epub 2014 Aug 30.

Département d'Endocrinologie, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon; Institut Jérôme Lejeune, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2014.08.014DOI Listing
November 2014

Ex vivo PBMC cytokine profile in familial Mediterranean fever patients: Involvement of IL-1β, IL-1α and Th17-associated cytokines and decrease of Th1 and Th2 cytokines.

Cytokine 2014 Oct 12;69(2):248-54. Epub 2014 Jul 12.

Laboratoire Inflammation, Tissus Epithéliaux et Cytokines (LITEC), EA4331, University and Hospital of Poitiers, 86022 Poitiers, France. Electronic address:

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http://dx.doi.org/10.1016/j.cyto.2014.06.012DOI Listing
October 2014

Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome.

Am J Hum Genet 2014 May 24;94(5):755-9. Epub 2014 Apr 24.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297140017
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http://dx.doi.org/10.1016/j.ajhg.2014.04.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4067561PMC
May 2014

The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia.

PLoS Genet 2014 May 1;10(5):e1004311. Epub 2014 May 1.

Unité de Génétique Médicale et Laboratoire International associé INSERM à l'Unité UMR_S 910, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.

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http://dx.doi.org/10.1371/journal.pgen.1004311DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4006740PMC
May 2014

A second family with autosomal recessive spondylometaphyseal dysplasia and early death.

Am J Med Genet A 2014 Apr 23;164A(4):1010-4. Epub 2014 Jan 23.

Unité de Génétique Médicale et Laboratoire Associe INSERM UMR S_910, Pôle Technologie Santé, Université Saint Joseph, Beirut, Lebanon.

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http://dx.doi.org/10.1002/ajmg.a.36372DOI Listing
April 2014

Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology.

Orphanet J Rare Dis 2014 Apr 17;9:56. Epub 2014 Apr 17.

Université Paris Diderot-Paris7, CNRS UMR7216, Epigénétique et Destin Cellulaire, Case Courrier 7042; 35, rue Hélène Brion, 75205 Paris, France.

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http://dx.doi.org/10.1186/1750-1172-9-56DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4022050PMC
April 2014

Report of a novel mutation in CRB1 in a Lebanese family presenting retinal dystrophy.

Ophthalmic Genet 2014 Mar 30;35(1):57-62. Epub 2013 Jan 30.

Unité de Génétique Médicale et laboratoire associé INSERM à l'Unité UMR_S 910. Pôle Technologie Santé, Université Saint-Joseph , Beirut , Lebanon , and.

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http://dx.doi.org/10.3109/13816810.2013.763995DOI Listing
March 2014

NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.

Hum Mutat 2014 Feb 9;35(2):178-86. Epub 2013 Dec 9.

Assistance Publique-Hôpitaux de Paris, Service de Néphrologie Pédiatrique, Centre de Référence des Maladies Rénales Héréditaires (MARHEA), Hôpital Necker-Enfants Malades, Paris, France; Inserm U983, Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France; Université Paris Descartes-Sorbonne Paris Cité, Paris, France.

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http://dx.doi.org/10.1002/humu.22485DOI Listing
February 2014

Flow cytometry biomarkers distinguish DOCK8 deficiency from severe atopic dermatitis.

Clin Immunol 2014 Feb 31;150(2):220-4. Epub 2013 Dec 31.

Division of Immunology, Boston Children's Hospital, Boston, MA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2013.12.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3924424PMC
February 2014

Craniosynostosis, anal anomalies, and porokeratosis (CDAGS syndrome): case report and literature review.

Eur J Med Genet 2013 Dec 4;56(12):674-7. Epub 2013 Oct 4.

Unité de Génétique Médicale et laboratoire associé INSERM UMR S_910, Faculté de Médecine, Université Saint Joseph, Beirut, Lebanon.

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http://dx.doi.org/10.1016/j.ejmg.2013.09.012DOI Listing
December 2013

Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia.

Eur J Med Genet 2013 Jan 31;56(1):32-5. Epub 2012 Oct 31.

Unité de Génétique Médicale et laboratoire associé INSERM à l'Unité UMR_S 910, Pôle Technologie Santé, Université Saint-Joseph, Beirut, Lebanon.

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http://dx.doi.org/10.1016/j.ejmg.2012.10.010DOI Listing
January 2013

Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon.

Hered Cancer Clin Pract 2012 Jun 19;10(1). Epub 2012 Jun 19.

Unité de Génétique Médicale et laboratoire associé INSERM à l'Unité UMR_S910, Université Saint-Joseph, Beirut, Lebanon.

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http://dx.doi.org/10.1186/1897-4287-10-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3441239PMC
June 2012

Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H).

J Peripher Nerv Syst 2012 Jun;17(2):141-6

Inserm, UMR 910, Génétique Médicale et Génomique Fonctionnelle, Faculté de Médecine de la Timone, Marseille, France.

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http://doi.wiley.com/10.1111/j.1529-8027.2012.00405.x
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http://dx.doi.org/10.1111/j.1529-8027.2012.00405.xDOI Listing
June 2012

[Interest in partnerships around the Mediterranean basin for rare diseases].

Presse Med 2012 May 28;41 Suppl 1:S51-4. Epub 2012 Mar 28.

Université Saint-Joseph à Beyrouth, Beyrouth 1104-2020, Liban.

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https://linkinghub.elsevier.com/retrieve/pii/S07554982120015
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http://dx.doi.org/10.1016/j.lpm.2012.02.033DOI Listing
May 2012

Marfanoid habitus, inguinal hernia, advanced bone age, and distinctive facial features: a new collagenopathy?

Am J Med Genet A 2012 May 9;158A(5):1185-9. Epub 2012 Apr 9.

Unité de Génétique Médicale et laboratoire associé INSERM à l'Unité UMR_S 910, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.

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http://doi.wiley.com/10.1002/ajmg.a.35279
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http://dx.doi.org/10.1002/ajmg.a.35279DOI Listing
May 2012