| Year |
Citation |
Score |
| 2024 |
Alary B, Cintas P, Claude C, Dellis O, Thèze C, Van Goethem C, Cossée M, Krahn M, Delague V, Bartoli M. Store-operated calcium entry dysfunction in CRAC channelopathy: Insights from a novel STIM1 mutation. Clinical Immunology (Orlando, Fla.). 265: 110306. PMID 38977117 DOI: 10.1016/j.clim.2024.110306 |
0.34 |
|
| 2022 |
El-Bazzal L, Ghata A, Estève C, Gadacha J, Quintana P, Castro C, Roeckel-Trévisiol N, Lembo F, Lenfant N, Mégarbané A, Borg JP, Lévy N, Bartoli M, Poitelon Y, Roubertoux PL, ... Delague V, et al. Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot-Marie-Tooth disease 4H. Brain : a Journal of Neurology. PMID 36314052 DOI: 10.1093/brain/awac402 |
0.708 |
|
| 2022 |
Morel V, Campana-Salort E, Boyer A, Esselin F, Walther-Louvier U, Querin G, Latour P, Lia AS, Magdelaine C, Beze-Beyrie P, Behin A, Delague V, Levy N, Stojkovic T, Attarian S, et al. HINT1 Neuropathy: expanding the genotype and phenotype spectrum. Clinical Genetics. PMID 35882622 DOI: 10.1111/cge.14198 |
0.529 |
|
| 2022 |
Rochdi K, Cerino M, Da Silva N, Delague V, Bouzidi A, Nahili H, Zouiri G, Kriouile Y, Gorokhova S, Bartoli M, Saïle R, Barakat A, Krahn M. Identification of novel mutations by targeted NGS in Moroccan families clinically diagnosed with a neuromuscular disorder. Clinica Chimica Acta; International Journal of Clinical Chemistry. 524: 51-58. PMID 34852264 DOI: 10.1016/j.cca.2021.11.020 |
0.41 |
|
| 2021 |
Mégarbané A, Hana S, Mégarbané H, Castro C, Baulande S, Criqui A, Roëckel-Trevisiol N, Dagher C, Al-Ali MT, Desvignes JP, Mahfoud D, El-Hayek S, Delague V. Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome. Molecular Syndromology. 12: 342-350. PMID 34899143 DOI: 10.1159/000517253 |
0.36 |
|
| 2021 |
Megarbane A, Bizzari S, Deepthi A, Sabbagh S, Mansour H, Chouery E, Hmaimess G, Jabbour R, Mehawej C, Alame S, Hani A, Hasbini D, Ghanem I, Koussa S, Al-Ali MT, ... ... Delague V, et al. A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort. Journal of Neuromuscular Diseases. PMID 34602496 DOI: 10.3233/JND-210652 |
0.436 |
|
| 2021 |
Khaoula R, Cerino M, Da Silva N, Delague V, Nahili H, Kriouile Y, Gorokhova S, Bartoli M, Saïle R, Barakat A, Krahn M. First characterization of congenital myasthenic syndrome type 5 in North Africa. Molecular Biology Reports. PMID 34553317 DOI: 10.1007/s11033-021-06530-7 |
0.384 |
|
| 2021 |
Nabouli I, Chikhaoui A, Othman H, Elouej S, Jones M, Lagarde A, Rekaya MB, Messaoud O, Zghal M, Delague V, Levy N, De Sandre-Giovannoli A, Abdelhak S, Yacoub-Youssef H. Case Report: Identification of Novel Variants in and Genes in Two Tunisian Patients With Atypical Xeroderma Pigmentosum Phenotype. Frontiers in Genetics. 12: 650639. PMID 34135938 DOI: 10.3389/fgene.2021.650639 |
0.598 |
|
| 2021 |
Salvi A, Skrypnyk C, Da Silva N, Urtizberea JA, Bakhiet M, Robert C, Lévy N, Megarbané A, Delague V, Bartoli M. A novel bi-allelic loss-of-function mutation in STIM1 expands the phenotype of STIM1-related diseases. Clinical Genetics. PMID 33733462 DOI: 10.1111/cge.13959 |
0.62 |
|
| 2021 |
Ben Haj Ali A, Messaoud O, Elouej S, Talmoudi F, Ayed W, Mellouli F, Ouederni M, Hadiji S, De Sandre-Giovannoli A, Delague V, Lévy N, Bogliolo M, Surrallés J, Abdelhak S, Amouri A. Gene Mutations in North African Fanconi Anemia Patients. Frontiers in Genetics. 12: 610050. PMID 33679882 DOI: 10.3389/fgene.2021.610050 |
0.618 |
|
| 2020 |
Mégarbané A, Hana S, El-Hayek S, Gambarini A, Al-Ali MT, Delague V. Developmental delay, intellectual disability, short stature, subglottic stenosis, hearing impairment, onychodysplasia of the index fingers, and distinctive facial features: A newly reported autosomal recessive syndrome. American Journal of Medical Genetics. Part A. 182: 1865-1872. PMID 32618096 DOI: 10.1002/Ajmg.A.61730 |
0.389 |
|
| 2020 |
Bizzari S, El-Bazzal L, Nair P, Younan A, Stora S, Mehawej C, El-Hayek S, Delague V, Mégarbané A. Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3. European Journal of Medical Genetics. 103869. PMID 32006683 DOI: 10.1016/J.Ejmg.2020.103869 |
0.517 |
|
| 2020 |
Jaouadi H, Bouyacoub Y, Chabrak S, Kraoua L, Zaroui A, Elouej S, Nagara M, Dallali H, Delague V, Levy N, Benkhalifa R, Mechmeche R, Zaffran S, Abdelhak S. Multiallelic rare variants support an oligogenic origin of sudden cardiac death in the young. Herz. PMID 31970460 DOI: 10.1007/S00059-019-04883-1 |
0.575 |
|
| 2020 |
Charfeddine C, Dallali H, Abdessalem G, Ghedira K, Hamdi Y, Elouej S, Landoulsi Z, Delague V, Lagarde A, Levy N, El-Amraoui A, Boubaker MS, Abdelhak S, Mokni M. Identification of a CDH12 potential candidate genetic variant for an autosomal dominant form of transgrediens and progrediens palmoplantar keratoderma in a Tunisian family. Journal of Human Genetics. PMID 31911611 DOI: 10.1038/S10038-019-0711-4 |
0.637 |
|
| 2019 |
Mortreux J, Bacquet J, Boyer A, Alazard E, Bellance R, Giguet-Valard AG, Cerino M, Krahn M, Audic F, Chabrol B, Laugel V, Desvignes JP, Béroud C, Nguyen K, Verschueren A, ... ... Delague V, et al. Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease. Journal of Human Genetics. PMID 31852984 DOI: 10.1038/S10038-019-0710-5 |
0.595 |
|
| 2019 |
Nair P, El-Bazzal L, Mansour H, Sabbagh S, Al-Ali MT, Gambarini A, Delague V, El-Hayek S, Mégarbané A. Further Delineation of the Disorder: Report on a New Family and Review. Journal of Pediatric Genetics. 8: 252-256. PMID 31687267 DOI: 10.1055/S-0039-1693664 |
0.448 |
|
| 2019 |
El-Bazzal L, Rihan K, Bernard-Marissal N, Castro C, Chouery-Khoury E, Desvignes JP, Atkinson A, Bertaux K, Koussa S, Lévy N, Bartoli M, Mégarbané A, Jabbour R, Delague V. Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1. Human Molecular Genetics. PMID 31090908 DOI: 10.1093/Hmg/Ddz060 |
0.611 |
|
| 2019 |
Jaouadi H, Chehida AB, Kraoua L, Etchevers HC, Argiro L, Kasdallah N, Blibech S, Delague V, Lévy N, Tebib N, Mrad R, Abdelhak S, Benkhalifa R, Zaffran S. A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation. Genetics Research. 101: e6. PMID 31030682 DOI: 10.1017/S0016672319000041 |
0.651 |
|
| 2019 |
Correard S, Plassais J, Lagoutte L, Botherel N, Thibaud JL, Hédan B, Richard L, Lia AS, Delague V, Mège C, Mathis S, Guaguère E, Paradis M, Vallat JM, Quignon P, et al. Canine neuropathies: powerful spontaneous models for human hereditary sensory neuropathies. Human Genetics. PMID 30955094 DOI: 10.1007/S00439-019-02003-X |
0.403 |
|
| 2019 |
Chikhaoui A, Elouej S, Nabouli I, Jones M, Lagarde A, Ben Rekaya M, Messaoud O, Hamdi Y, Zghal M, Delague V, Levy N, De Sandre-Giovannoli A, Abdelhak S, Yacoub-Youssef H. Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype. Frontiers in Genetics. 10: 111. PMID 30838033 DOI: 10.3389/Fgene.2019.00111 |
0.647 |
|
| 2019 |
Nair P, Lama M, El-Hayek S, Abou Sleymane G, Stora S, Obeid M, Al-Ali MT, Delague V, Mégarbané A. and Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants? Molecular Syndromology. 9: 319-323. PMID 30800049 DOI: 10.1159/000494465 |
0.415 |
|
| 2019 |
Jalkh N, Corbani S, Haidar Z, Hamdan N, Farah E, Abou Ghoch J, Ghosn R, Salem N, Fawaz A, Djambas Khayat C, Rajab M, Mourani C, Moukarzel A, Rassi S, Gerbaka B, ... ... Delague V, et al. The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population. Bmc Medical Genomics. 12: 11. PMID 30665423 DOI: 10.1186/S12920-019-0474-Y |
0.376 |
|
| 2018 |
Mégarbané A, Hmaimess G, Bizzari S, El-Bazzal L, Al-Ali MT, Stora S, Delague V, El-Hayek S. A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22). European Journal of Medical Genetics. PMID 30423442 DOI: 10.1016/J.Ejmg.2018.11.010 |
0.465 |
|
| 2018 |
Bacquet J, Stojkovic T, Boyer A, Martini N, Audic F, Chabrol B, Salort-Campana E, Delmont E, Desvignes JP, Verschueren A, Attarian S, Chaussenot A, Delague V, Levy N, Bonello-Palot N. Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation. Bmj Open. 8: e021632. PMID 30373780 DOI: 10.1136/Bmjopen-2018-021632 |
0.558 |
|
| 2018 |
Nair P, Sabbagh S, Mansour H, Fawaz A, Hmaimess G, Noun P, Dagher R, Megarbane H, Hana S, Alame S, Lamaa M, Hasbini D, Farah R, Rajab M, Stora S, ... ... Delague V, et al. Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases. Molecular Genetics & Genomic Medicine. 6: 1041-1052. PMID 30293248 DOI: 10.1002/Mgg3.480 |
0.308 |
|
| 2018 |
Ghedira N, Lagarde A, Ben Ameur K, Elouej S, Sakka R, Kerkeni E, Chioukh FZ, Olschwang S, Desvignes JP, Abdelhak S, Delague V, Lévy N, Monastiri K, De Sandre-Giovannoli A. Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome. Bmc Pediatrics. 18: 286. PMID 30157809 DOI: 10.1186/S12887-018-1259-8 |
0.553 |
|
| 2018 |
Auguste Y, Delague V, Desvignes JP, Longepied G, Gnisci A, Besnier P, Levy N, Beroud C, Megarbane A, Metzler-Guillemain C, Mitchell MJ. Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men. American Journal of Human Genetics. PMID 30122541 DOI: 10.1016/J.Ajhg.2018.07.013 |
0.584 |
|
| 2018 |
El Bazzal L, Atkinson A, Guillard AC, Delague V, Mégarbané A. A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2). European Journal of Medical Genetics. PMID 30075207 DOI: 10.1016/J.Ejmg.2018.07.025 |
0.523 |
|
| 2018 |
Jaouadi H, Kraoua L, Chaker L, Atkinson A, Delague V, Levy N, Benkhalifa R, Mrad R, Abdelhak S, Zaffran S. Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features. Journal of Human Genetics. PMID 30046096 DOI: 10.1038/S10038-018-0492-1 |
0.65 |
|
| 2018 |
Desvignes JP, Bartoli M, Delague V, Krahn M, Miltgen M, Béroud C, Salgado D. VarAFT: a variant annotation and filtration system for human next generation sequencing data. Nucleic Acids Research. PMID 29860484 DOI: 10.1093/Nar/Gky471 |
0.426 |
|
| 2017 |
Noury JB, Maisonobe T, Richard P, Delague V, Malfatti E, Stojkovic T. Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of BAG3 gene mutations even without cardiac involvement. Muscle & Nerve. PMID 28224639 DOI: 10.1002/Mus.25631 |
0.459 |
|
| 2017 |
Di Meglio C, Delague V, Milh M, Chabrol B. Two new mutations in POLR1C gene cause hypomyelinating leukodystrophy European Journal of Paediatric Neurology. 21: e63. DOI: 10.1016/J.EJPN.2017.04.929 |
0.361 |
|
| 2015 |
Yoon G, Delague V, Mégarbané A, Isaya G. Reply: Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA. Brain : a Journal of Neurology. PMID 26657516 DOI: 10.1093/Brain/Awv363 |
0.457 |
|
| 2015 |
Capo-Chichi JM, Mehawej C, Delague V, Caillaud C, Khneisser I, Hamdan FF, Michaud JL, Kibar Z, Mégarbané A. Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay. European Journal of Medical Genetics. PMID 26578240 DOI: 10.1016/J.Ejmg.2015.11.005 |
0.459 |
|
| 2015 |
Vodopiutz J, Seidl R, Prayer D, Khan MI, Mayr JA, Streubel B, Steiß JO, Hahn A, Csaicsich D, Castro C, Assoum M, Müller T, Wieczorek D, Mancini GM, Sadowski CE, ... ... Delague V, et al. WDR73 mutations cause infantile neurodegeneration and variable glomerular kidney disease. Human Mutation. PMID 26123727 DOI: 10.1002/Humu.22828 |
0.617 |
|
| 2015 |
Jobling RK, Assoum M, Gakh O, Blaser S, Raiman JA, Mignot C, Roze E, Dürr A, Brice A, Lévy N, Prasad C, Paton T, Paterson AD, Roslin NM, Marshall CR, ... ... Delague V, et al. PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. Brain : a Journal of Neurology. 138: 1505-17. PMID 25808372 DOI: 10.1093/Brain/Awv057 |
0.617 |
|
| 2015 |
Abid I, Kamoun F, Boubaker C, Delague V, Triki C. Epilepsy in patients with Charcot Marie Tooth disease: Phenotypic spectrum or two different diseases? Journal of Pediatric Epilepsy. 3: 121-125. DOI: 10.3233/Pep-14085 |
0.335 |
|
| 2014 |
Mehawej C, Delahodde A, Legeai-Mallet L, Delague V, Kaci N, Desvignes JP, Kibar Z, Capo-Chichi JM, Chouery E, Munnich A, Cormier-Daire V, Mégarbané A. The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia. Plos Genetics. 10: e1004311. PMID 24786642 DOI: 10.1371/Journal.Pgen.1004311 |
0.426 |
|
| 2013 |
Boubaker C, Hsairi-Guidara I, Castro C, Ayadi I, Boyer A, Kerkeni E, Courageot J, Abid I, Bernard R, Bonello-Palot N, Kamoun F, Cheikh HB, Lévy N, Triki C, Delague V. A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family. Annals of Human Genetics. 77: 336-43. PMID 23550889 DOI: 10.1111/Ahg.12017 |
0.682 |
|
| 2012 |
Baudot C, Esteve C, Castro C, Poitelon Y, Mas C, Hamadouche T, El-Rajab M, Lévy N, Megarbané A, Delague V. Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H). Journal of the Peripheral Nervous System : Jpns. 17: 141-6. PMID 22734899 DOI: 10.1111/J.1529-8027.2012.00405.X |
0.77 |
|
| 2012 |
Marion V, Stutzmann F, Gérard M, De Melo C, Schaefer E, Claussmann A, Hellé S, Delague V, Souied E, Barrey C, Verloes A, Stoetzel C, Dollfus H. Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly. Journal of Medical Genetics. 49: 317-21. PMID 22510444 DOI: 10.1136/jmedgenet-2012-100737 |
0.377 |
|
| 2012 |
Poitelon Y, Kozlov S, Devaux J, Vallat JM, Jamon M, Roubertoux P, Rabarimeriarijaona S, Baudot C, Hamadouche T, Stewart CL, Levy N, Delague V. Behavioral and molecular exploration of the AR-CMT2A mouse model Lmna (R298C/R298C). Neuromolecular Medicine. 14: 40-52. PMID 22331516 DOI: 10.1007/S12017-012-8168-Z |
0.738 |
|
| 2012 |
Corbani S, Chouery E, Fayyad J, Fawaz A, Tourjuman OE, Badens C, Lacoste C, Delague V, Megarbane A. Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation. Journal of Intellectual Disability Research. 56: 415-420. PMID 21954873 DOI: 10.1111/J.1365-2788.2011.01479.X |
0.53 |
|
| 2012 |
Chouery E, Abou-Ghoch J, Corbani S, El Ali N, Korban R, Salem N, Castro C, Klayme S, Azoury-Abou Rjeily M, Khoury-Matar R, Debo G, Germanos-Haddad M, Delague V, Lefranc G, Mégarbané A. A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2. Clinical Genetics. 82: 489-93. PMID 21906047 DOI: 10.1111/J.1399-0004.2011.01783.X |
0.483 |
|
| 2012 |
Jabbour R, Koussa S, Delague V, Megarbane A, Khoury M, Atweh S. Epidemiology of Charcot-Marie-Tooth in Lebanon: Clinical, Genetic and Electrophysiological Correlation (P05.150) Neurology. 78. DOI: 10.1212/Wnl.78.1_Meetingabstracts.P05.150 |
0.306 |
|
| 2012 |
Hamadouche T, Lagier-Tourenne C, Bernard R, Delague V, Benhassine T, Philip N, Lévy N. La neuropathie avec cataracte congénitale et dysmorphie faciale (CCFDN). Analyse moléculaire du gène CTDP1 chez des familles consanguines Revue Neurologique. 168. DOI: 10.1016/J.Neurol.2012.01.036 |
0.439 |
|
| 2011 |
Bernard G, Chouery E, Putorti ML, Tétreault M, Takanohashi A, Carosso G, Clément I, Boespflug-Tanguy O, Rodriguez D, Delague V, Abou Ghoch J, Jalkh N, Dorboz I, Fribourg S, Teichmann M, et al. Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. American Journal of Human Genetics. 89: 415-23. PMID 21855841 DOI: 10.1016/J.Ajhg.2011.07.014 |
0.464 |
|
| 2011 |
Ortolano S, Tarrío R, Blanco-Arias P, Teijeira S, Rodríguez-Trelles F, García-Murias M, Delague V, Lévy N, Fernández JM, Quintáns B, Millán BS, Carracedo A, Navarro C, Sobrido MJ. A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy. Neuromuscular Disorders : Nmd. 21: 254-62. PMID 21288719 DOI: 10.1016/J.Nmd.2010.12.011 |
0.59 |
|
| 2011 |
Medlej-Hashim M, Chouery E, Salem N, Delague V, Lefranc G, Loiselet J, Mégarbané A. Familial Mediterranean fever in a large Lebanese family: multiple MEFV mutations and evidence for a Founder effect of the p.[M694I] mutation. European Journal of Medical Genetics. 54: 50-4. PMID 20937419 DOI: 10.1016/J.Ejmg.2010.10.001 |
0.528 |
|
| 2011 |
Chouery E, Delague V, Jalkh N, Salem N, Kfoury J, Rodriguez D, Chabrol B, Boespflug-Tanguy O, Lévy N, Serre JL, Mégarbané A. A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22. Neurogenetics. 12: 73-8. PMID 20721593 DOI: 10.1007/S10048-010-0256-3 |
0.402 |
|
| 2010 |
Nicolas E, Poitelon Y, Chouery E, Salem N, Levy N, Mégarbané A, Delague V. CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592. European Journal of Human Genetics : Ejhg. 18: 1107-13. PMID 20531441 DOI: 10.1038/Ejhg.2010.82 |
0.768 |
|
| 2010 |
Cossée M, Bartoli M, Allamand V, Guittard C, Delague V, Krahn M, Ledeuil C, Marey I, Nelson I, Richard P, Bourgeois P, Bonne G, Leturcq F, Voit T, Béroud C, et al. P1.15 DNA micro-arrays for revisiting molecular pathology in neuromuscular disorders Neuromuscular Disorders. 20: 604-604. DOI: 10.1016/J.Nmd.2010.07.030 |
0.475 |
|
| 2008 |
Chouery E, Kfoury J, Delague V, Jalkh N, Bejjani P, Serre JL, Mégarbané A. A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22-q13.12. Neurogenetics. 9: 287-293. PMID 18688663 DOI: 10.1007/S10048-008-0142-4 |
0.432 |
|
| 2008 |
Hamadouche T, Poitelon Y, Genin E, Chaouch M, Tazir M, Kassouri N, Nouioua S, Chaouch A, Boccaccio I, Benhassine T, Sandre-Giovannoli AD, Grid D, Lévy N, Delague V. Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa. Annals of Human Genetics. 72: 590-597. PMID 18549403 DOI: 10.1111/J.1469-1809.2008.00456.X |
0.774 |
|
| 2008 |
Chouery E, Delague V, Bergougnoux A, Koussa S, Serre JL, Mégarbané A. Mutations in TREM2 lead to pure early-onset dementia without bone cysts. Human Mutation. 29: E194-204. PMID 18546367 DOI: 10.1002/Humu.20836 |
0.467 |
|
| 2008 |
Jalkh N, Génin E, Chouery E, Delague V, Medlej-Hashim M, Idrac CA, Mégarbané A, Serre JL. Familial Mediterranean Fever in Lebanon: founder effects for different MEFV mutations. Annals of Human Genetics. 72: 41-7. PMID 17711558 DOI: 10.1111/J.1469-1809.2007.00386.X |
0.5 |
|
| 2008 |
Mégarbané A, Mustapha M, Bleik J, Waked N, Delague V, Loiselet J. Exclusion of chromosome 15q21.1 in autosomal‐recessive Weill–Marchesani syndrome in an inbred Lebanese family Clinical Genetics. 58: 473-478. PMID 11149617 DOI: 10.1034/J.1399-0004.2000.580608.X |
0.383 |
|
| 2007 |
Adaimy L, Chouery E, Megarbane H, Mroueh S, Delague V, Nicolas E, Belguith H, de Mazancourt P, Megarbane A. Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia. American Journal of Human Genetics. 81: 821-8. PMID 17847007 DOI: 10.1086/520064 |
0.553 |
|
| 2007 |
Delague V, Jacquier A, Hamadouche T, Poitelon Y, Baudot C, Boccaccio I, Chouery E, Chaouch M, Kassouri N, Jabbour R, Grid D, Mégarbané A, Haase G, Lévy N. Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H. American Journal of Human Genetics. 81: 1-16. PMID 17564959 DOI: 10.1086/518428 |
0.762 |
|
| 2007 |
Bernard R, De Sandre-Giovannoli A, Delague V, Lévy N. Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies. Neuromolecular Medicine. 8: 87-106. PMID 16775369 DOI: 10.1385/Nmm:8:1-2:87 |
0.596 |
|
| 2007 |
Delague V, Jacquier A, Hamadouche T, Poitelon Y, Baudot C, Boccaccio I, Chouery E, Chaouch M, Kassouri N, Jabbour R, Grid D, Mégarbané A, Haase G, Levy N. G.O.3 Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H Neuromuscular Disorders. 17: 767. DOI: 10.1016/J.Nmd.2007.06.024 |
0.733 |
|
| 2006 |
Hoffmann K, Muller JS, Stricker S, Megarbane A, Rajab A, Lindner TH, Cohen M, Chouery E, Adaimy L, Ghanem I, Delague V, Boltshauser E, Talim B, Horvath R, Robinson PN, et al. Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. American Journal of Human Genetics. 79: 303-12. PMID 16826520 DOI: 10.1086/506257 |
0.419 |
|
| 2006 |
Mattit H, Joma M, Al-Cheikh S, El-Khateeb M, Medlej-Hashim M, Salem N, Delague V, Mégarbané A. Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation. European Journal of Medical Genetics. 49: 481-6. PMID 16627024 DOI: 10.1016/J.Ejmg.2006.03.002 |
0.484 |
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| 2006 |
Delague V, Souaid M, Chouery E, Depetris D, Sanlaville D, Mattei MG, Mégarbané A. Screening for subtelomeric rearrangements using automated fluorescent genotyping of microsatellite markers: a Lebanese study. European Journal of Medical Genetics. 49: 117-26. PMID 16530708 DOI: 10.1016/J.Ejmg.2005.04.022 |
0.368 |
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| 2006 |
Van Maldergem L, Siitonen HA, Jalkh N, Chouery E, De Roy M, Delague V, Muenke M, Jabs EW, Cai J, Wang LL, Plon SE, Fourneau C, Kestilä M, Gillerot Y, Mégarbané A, et al. Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. Journal of Medical Genetics. 43: 148-52. PMID 15964893 DOI: 10.1136/Jmg.2005.031781 |
0.522 |
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| 2006 |
Bernard R, De Sandre-Giovannoli A, Delague V, Lévy N. Molecular Genetics of Autosomal-Recessive Axonal Charcot-Marie-Tooth Neuropathies Neuromolecular Medicine. 8: 87-106. DOI: 10.1385/NMM:8:1:87 |
0.464 |
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| 2006 |
Poitelon Y, Hamadouche T, Sandre-Giovannoli AD, Kozlov S, Serradj N, Tazir M, Chaouch M, Grid D, Stewart C, Jamon M, Delague V, Lévy N. G.P.4.02 Pathophysiological mechanisms of lamin A/C associated Charcot-Marie-Tooth disease (CMT2B1/ARCMT2) Neuromuscular Disorders. 16: 675. DOI: 10.1016/J.Nmd.2006.05.110 |
0.7 |
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| 2005 |
Medlej-Hashim M, Serre JL, Corbani S, Saab O, Jalkh N, Delague V, Chouery E, Salem N, Loiselet J, Lefranc G, Mégarbané A. Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations. European Journal of Medical Genetics. 48: 412-20. PMID 16378925 DOI: 10.1016/J.Ejmg.2005.05.010 |
0.486 |
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| 2005 |
Delague V, Chouery E, Corbani S, Ghanem I, Aamar S, Fischer J, Levy-Lahad E, Urtizberea JA, Mégarbané A. Molecular study of WISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: identification of two novel mutations, and description of a founder effect. American Journal of Medical Genetics. Part A. 138: 118-26. PMID 16152649 DOI: 10.1002/Ajmg.A.30906 |
0.538 |
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| 2005 |
De Sandre-Giovannoli A, Delague V, Hamadouche T, Chaouch M, Krahn M, Boccaccio I, Maisonobe T, Chouery E, Jabbour R, Atweh S, Grid D, Mégarbané A, Lévy N. Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11 Journal of Medical Genetics. 42: 260-265. PMID 15744041 DOI: 10.1136/Jmg.2004.024364 |
0.608 |
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| 2005 |
Aubourg P, Krahn M, Bernard R, Nguyen K, Forzano O, Boccaccio I, Delague V, De Sandre-Giovannoli A, Pouget J, Depétris D, Mattei MG, Philip N, Lévy N. Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genes. Journal of Medical Genetics. 42: 253-9. PMID 15744040 DOI: 10.1136/Jmg.2004.021899 |
0.429 |
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| 2005 |
Straussberg R, Basel-Vanagaite L, Kivity S, Dabby R, Cirak S, Nurnberg P, Voit T, Mahajnah M, Inbar D, Saifi GM, Lupski JR, Delague V, Megarbane A, Richter A, Leshinsky E, et al. An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures Neurology. 64: 142-144. PMID 15642921 DOI: 10.1212/01.Wnl.0000148600.60470.E6 |
0.408 |
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| 2005 |
Mégarbané A, Chouery E, Rassi S, Delague V. A new autosomal recessive oto-facial syndrome with midline malformations. American Journal of Medical Genetics. Part A. 132: 398-401. PMID 15633182 DOI: 10.1002/Ajmg.A.30479 |
0.37 |
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| 2004 |
Delague V, Kriegshäuser G, Oberkanins C, Mégarbané A. Reverse hybridization vs. DNA sequencing in the molecular diagnosis of Familial Mediterranean fever. Genetic Testing. 8: 65-8. PMID 15140375 DOI: 10.1089/109065704323016049 |
0.477 |
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| 2004 |
Medlej-Hashim M, Delague V, Chouery E, Salem N, Rawashdeh M, Lefranc G, Loiselet J, Mégarbané A. Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects. Bmc Medical Genetics. 5: 4. PMID 15018633 DOI: 10.1186/1471-2350-5-4 |
0.43 |
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| 2003 |
De Sandre-Giovannoli A, Chaouch M, Boccaccio I, Bernard R, Delague V, Grid D, Vallat JM, Lévy N, Mégarbané A. Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations. Journal of Medical Genetics. 40: e87. PMID 12843336 DOI: 10.1136/Jmg.40.7.E87 |
0.625 |
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| 2003 |
Mégarbané A, Rassi S, Chouery E, Delague V, Perez de Nanclares Leal G, Tabet M, Castaño L, Loiselet J. A new dominant branchiogenic-deafness syndrome with internal auditory canal hypoplasia and abnormal extremities. American Journal of Medical Genetics. Part A. 120: 276-82. PMID 12833414 DOI: 10.1002/Ajmg.A.20077 |
0.361 |
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| 2002 |
Medlej-Hashim M, Mustapha M, Chouery E, Weil D, Parronaud J, Salem N, Delague V, Loiselet J, Lathrop M, Petit C, Mégarbané A. Non-syndromic recessive deafness in Jordan: mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations. European Journal of Human Genetics : Ejhg. 10: 391-4. PMID 12080392 DOI: 10.1038/Sj.Ejhg.5200813 |
0.498 |
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| 2002 |
Delague V, Bareil C, Bouvagnet P, Salem N, Chouery E, Loiselet J, Mégarbané A, Claustres M. A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze Family. Neurogenetics. 4: 23-7. PMID 12030328 DOI: 10.1007/S10048-001-0127-Z |
0.382 |
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| 2002 |
Mustapha M, Salem N, Delague V, Chouery E, Ghassibeh M, Rai M, Loiselet J, Petit C, Mégarbané A. Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene. Journal of Medical Genetics. 38: E36. PMID 11584050 DOI: 10.1136/Jmg.38.10.E36 |
0.442 |
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| 2001 |
Medlej-Hashim M, Petit I, Adib S, Chouery E, Salem N, Delague V, Rawashdeh M, Mansour I, Lefranc G, Naman R, Loiselet J, Lecron JC, Serre JL, Mégarbané A. Familial mediterranean fever: Association of elevated IgD plasma levels with specific MEFV mutations European Journal of Human Genetics. 9: 849-854. PMID 11781702 DOI: 10.1038/Sj.Ejhg.5200725 |
0.4 |
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| 2001 |
Mégarbané A, Delague V, Ruchoux MM, Rizkallah E, Maurage CA, Viollet L, Rouaix-Emery N, Urtizberea A. New autosomal recessive cerebellar ataxia disorder in a large inbred Lebanese family. American Journal of Medical Genetics. 101: 135-41. PMID 11391656 DOI: 10.1002/1096-8628(20010615)101:2<135::Aid-Ajmg1134>3.0.Co;2-J |
0.386 |
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| 2001 |
Bareil C, Hamel CP, Delague V, Arnaud B, Demaille J, Claustres M. Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa. Human Genetics. 108: 328-34. PMID 11379879 DOI: 10.1007/s004390100496 |
0.356 |
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| 2001 |
Mansour I, Delague V, Cazeneuve C, Dodé C, Chouery E, Pêcheux C, Medlej-Hashim M, Salem N, El Zein L, Levan-Petit I, Lefranc G, Goossens M, Delpech M, Amselem S, Loiselet J, et al. Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations. European Journal of Human Genetics : Ejhg. 9: 51-5. PMID 11175300 DOI: 10.1038/Sj.Ejhg.5200574 |
0.507 |
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| 2001 |
Guilbot A, Williams A, Ravisé N, Verny C, Brice A, Sherman DL, Brophy PJ, LeGuern E, Delague V, Bareil C, Mégarbané A, Claustres M. A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot–Marie–Tooth disease Human Molecular Genetics. 10: 415-421. PMID 11157804 DOI: 10.1093/Hmg/10.4.415 |
0.505 |
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| 2001 |
Delague V, Bareil C, Bouvagnet P, Salem N, Chouery E, Loiselet J, Mégarbané A, Claustres M. Nonprogressive autosomal recessive ataxia maps to chromosome 9q34-9qter in a large consanguineous Lebanese family. Annals of Neurology. 50: 250-253. DOI: 10.1002/Ana.1286 |
0.403 |
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| 2000 |
Mégarbané A, Salem N, Stephan E, Ashoush R, Lenoir D, Delague V, Kassab R, Loiselet J, Bouvagnet P. X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3. European Journal of Human Genetics : Ejhg. 8: 704-8. PMID 10980576 DOI: 10.1038/Sj.Ejhg.5200526 |
0.472 |
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| 2000 |
Delague V, Souraty N, Khallouf E, Tardy V, Chouery E, Halaby G, Loiselet J, Morel Y, Mégarbané A. Mutational analysis in Lebanese patients with congenital adrenal hyperplasia due to a deficit in 21-hydroxylase. Hormone Research in Paediatrics. 53: 77-82. PMID 10971093 DOI: 10.1159/000023518 |
0.54 |
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| 2000 |
Bareil C, Delague V, Arnaud B, Demaille J, Hamel C, Claustres M. W179R: a novel missense mutation in the peripherin/RDS gene in a family with autosomal dominant retinitis pigmentosa. Human Mutation. 15: 583-4. PMID 10862101 DOI: 10.1002/1098-1004(200006)15:6<583::AID-HUMU24>3.0.CO;2-X |
0.373 |
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| 2000 |
Delague V, Bareil C, Tuffery S, Bouvagnet P, Chouery E, Koussa S, Maisonobe T, Loiselet J, Mégarbané A, Claustres M. Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene. American Journal of Human Genetics. 67: 236-243. PMID 10848494 DOI: 10.1086/302980 |
0.45 |
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| 2000 |
Mégarbané A, Desguerres I, Rizkallah E, Delague V, Nabbout R, Barois A, Urtizberea A. Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: confirmation of autosomal recessive inheritance? American Journal of Medical Genetics. 92: 117-121. PMID 10797435 DOI: 10.1002/(Sici)1096-8628(20000515)92:2<117::Aid-Ajmg7>3.0.Co;2-C |
0.408 |
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| 2000 |
Medlej-Hashim M, Rawashdeh M, Chouery E, Mansour I, Delague V, Lefranc G, Naman R, Loiselet J, Mégarbané A. Genetic screening of fourteen mutations in Jordanian familial Mediterranean fever patients Human Mutation. 15: 384. PMID 10737992 DOI: 10.1002/(Sici)1098-1004(200004)15:4<384::Aid-Humu19>3.0.Co;2-U |
0.52 |
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| 1999 |
Mégarbané A, Delague V, Salem N, Loiselet J. Autosomal recessive congenital cerebellar hypoplasia and short stature in a large inbred family. American Journal of Medical Genetics. 87: 88-90. PMID 10528257 DOI: 10.1002/(Sici)1096-8628(19991105)87:1<88::Aid-Ajmg20>3.0.Co;2-2 |
0.391 |
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