Mongi Ben Hamida - Related publications

Neurology Institut National de Neurologie, Tunis, Tunis, Tunisia 
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50 most relevant papers in past 60 days:
Year Citation  Score
2020 Zhao Y, Qin L, Pan H, Liu Z, Jiang L, He Y, Zeng Q, Zhou X, Zhou X, Zhou Y, Fang Z, Wang Z, Xiang Y, Yang H, Wang Y, et al. The role of genetics in Parkinson's disease: a large cohort study in Chinese mainland population. Brain : a Journal of Neurology. PMID 32613234 DOI: 10.1093/brain/awaa167   
2020 Vaché C, Puechberty J, Faugère V, Darmaisin F, Liquori A, Baux D, Blanchet C, Garcia-Garcia G, Meunier I, Pellestor F, Koenig M, Roux AF. A 4.6 Mb Inversion Leading to - and - Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome Type 1. Frontiers in Genetics. 11: 623. PMID 32714370 DOI: 10.3389/fgene.2020.00623   
2020 Soares AR, Figueiredo CM, Quelhas D, Silva ES, Freitas J, Oliveira MJ, Faria S, Fortuna AM, Borges T. Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease - A Rare Case Concerning Gene Pleiotropy. European Endocrinology. 16: 66-68. PMID 32595772 DOI: 10.17925/EE.2020.16.1.66   
2020 Gadoury-Levesque V, Dong L, Su R, Chen J, Zhang K, Risma KA, Marsh RA, Sun M. Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders. Blood Advances. 4: 2578-2594. PMID 32542393 DOI: 10.1182/bloodadvances.2020001605   
2020 Min J, Mao B, Wang Y, He X, Gao S, Wang H. A Heterozygous Novel Mutation in Gene Causes Atypical Branchio-Oculo-Facial Syndrome With Isolated Coloboma of Choroid: A Case Report. Frontiers in Pediatrics. 8: 380. PMID 32766183 DOI: 10.3389/fped.2020.00380   
2020 Zamariolli M, Di-Battista A, Moysés-Oliveira M, de Mello CB, de Paula Ramos MA, Liehr T, Melaragno MI. Disruption of PCDH10 and TNRC18 Genes due to a Balanced Translocation. Cytogenetic and Genome Research. 160: 321-328. PMID 32535594 DOI: 10.1159/000508820   
2020 Lopera Maya EA, van der Graaf A, Lanting P, van der Geest M, Fu J, Swertz M, Franke L, Wijmenga C, Deelen P, Zhernakova A, Sanna S, . Lack of Association Between Genetic Variants at and Genes Involved in SARS-CoV-2 Infection and Human Quantitative Phenotypes. Frontiers in Genetics. 11: 613. PMID 32582302 DOI: 10.3389/fgene.2020.00613   
2020 Wang L, Zou T, Lin Y, Li L, Zhang P, Gong B, Hao J, Zhang H. Identification of a novel homozygous variant in the CNGA1 gene in a Chinese family with autosomal recessive retinitis pigmentosa. Molecular Medicine Reports. 22: 2516-2520. PMID 32705276 DOI: 10.3892/mmr.2020.11331   
2020 Zhang K, Lu Y, Chen J, Li J, Yadav KK, Yin J, Yang X. NEK1 and GRN mutations coexist in a sporadic Chinese Hui descent ALS patient. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. 1-3. PMID 32772750 DOI: 10.1080/21678421.2020.1779301   
2020 Zou ZY, Che CH, Feng SY, Fang XY, Huang HP, Liu CY. Novel FUS mutation Y526F causing rapidly progressive familial amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. 1-7. PMID 32720527 DOI: 10.1080/21678421.2020.1797815   
2020 Luo Y, Bai R, Wang Z, Zhu X, Xing J, Li X. STAR mutations causing non‑classical lipoid adrenal hyperplasia manifested as familial glucocorticoid deficiency. Molecular Medicine Reports. PMID 32627004 DOI: 10.3892/mmr.2020.11140   
2020 Liu X, Duan X, Zhang Y, Fan D. Clinical and Genetic Diversity of Mutations in a Large Cohort of Chinese Patients With Charcot-Marie-Tooth Disease. Frontiers in Neurology. 11: 630. PMID 32719652 DOI: 10.3389/fneur.2020.00630   
2020 Zhang F, Lin X, Yu X. Primary macronodular adrenal hyperplasia (PMAH) can be generated by a new ARMC5 germline variant (c.52C>T (p.Gln18X)). Endocrine Journal. PMID 32713866 DOI: 10.1507/endocrj.EJ20-0163   
2020 Fan Y, Tan D, Song D, Zhang X, Chang X, Wang Z, Zhang C, Chan SH, Wu Q, Wu L, Wang S, Yan H, Ge L, Yang H, Mao B, et al. Clinical spectrum and genetic variations of -related muscular dystrophies in a large cohort of Chinese patients. Journal of Medical Genetics. PMID 32571898 DOI: 10.1136/jmedgenet-2019-106671   
2020 Reeves MJ, Goetz KE, Guan B, Ullah E, Blain D, Zein WM, Tumminia SJ, Hufnagel RB. Genotype-phenotype associations in a large PRPH2-related retinopathy cohort. Human Mutation. PMID 32531846 DOI: 10.1002/humu.24065   
2020 Carvalho B, Marques CJ, Santos-Silva R, Fontoura M, Carvalho D, Carvalho F. Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: An Update on Genetic Analysis of CYP21A2 Gene. Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association. PMID 32131114 DOI: 10.1055/a-1108-1419   
2020 Huynh VT, Audrézet MP, Sayer JA, Ong AC, Lefevre S, Le Brun V, Després A, Senum SR, Chebib FT, Barroso-Gil M, Patel C, Mallett AJ, Goel H, Mallawaarachchi AC, Van Eerde AM, ... , et al. Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease. Kidney International. PMID 32631624 DOI: 10.1016/j.kint.2020.02.022   
2020 Chrcanovic BR, Guimarães LM, Gomes CC, Gomez RS. Cherubism: a systematic literature review of clinical and molecular aspects. International Journal of Oral and Maxillofacial Surgery. PMID 32620450 DOI: 10.1016/j.ijom.2020.05.021   
2020 Xu J, Wu J, Teng X, Cai L, Yuan H, Chen X, Hu M, Wang X, Jiang N, Chen H. Large duplication in LMBR1 gene in a large Chinese pedigree with triphalangeal thumb polysyndactyly syndrome. American Journal of Medical Genetics. Part A. PMID 32662247 DOI: 10.1002/ajmg.a.61757   
2020 Shibuya K, Sawai S, Sugiyama A, Koide M, Nishiyama A, Aoki M, Kuwabara Md S. Facial onset amyotrophic lateral sclerosis with K3E variant in the Cu/Zn superoxide dismutase gene. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. 1-3. PMID 32729725 DOI: 10.1080/21678421.2020.1797092   
2020 Kao HJ, Chiang HL, Chen HH, Fan PC, Tu YF, Chou YY, Hwu WL, Lin CL, Kwok PY, Lee NC. De novo mutation and skewed X-inactivation in girl with BCAP31-related syndrome. Human Mutation. PMID 32652807 DOI: 10.1002/humu.24080   
2020 Ranganathan R, Haque S, Coley K, Shepheard S, Cooper-Knock J, Kirby J. Multifaceted Genes in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia. Frontiers in Neuroscience. 14: 684. PMID 32733193 DOI: 10.3389/fnins.2020.00684   
2020 Lopez G, Lazzeri G, Rappa A, Isimbaldi G, Cribiù FM, Guerini-Rocco E, Ferrero S, Vaira V, Di Fonzo A. Comprehensive Genomic Analysis Reveals the Prognostic Role of Copy-Number Variations in Human Malignancies. Genes. 11. PMID 32722212 DOI: 10.3390/genes11080846   
2020 Essawi M, Mazen I, Fawaz L, Hassan H, ElBagoury N, Peter M, Gaafar K, Amer M, Nabil W, Hohmann G, Soliman H, Sippell W. Assessment of the most common CYP21A2 point mutations in a cohort of congenital adrenal hyperplasia patients from Egypt. Journal of Pediatric Endocrinology & Metabolism : Jpem. PMID 32614782 DOI: 10.1515/jpem-2019-0575   
2020 Niu Y, Cao L, Zhao P, Cai C. A case of congenital Rett variant in a Chinese patient caused by a mutation. Annals of Saudi Medicine. 40: 347-353. PMID 32757993 DOI: 10.5144/0256-4947.2020.347   
2020 Guo L, Tang WM, Song YZ. [Clinical features and LAMA2 mutations of patients with congenital muscular dystrophy type 1A: a case report and literature review]. Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics. 22: 608-613. PMID 32571460 DOI: 10.7499/j.issn.1008-8830.2001102   
2020 Kumar SH, Athimoolam K, Suraj M, Das Christu Das MS, Muralidharan A, Jeyam D, Ashokan J, Karthikeyan P, Krishna R, Khanna-Gupta A, Bremadesam Raman L. Comprehensive genetic analysis of 961 unrelated Duchenne Muscular Dystrophy patients: Focus on diagnosis, prevention and therapeutic possibilities. Plos One. 15: e0232654. PMID 32559196 DOI: 10.1371/journal.pone.0232654   
2020 Rendina A, Drongitis D, Donizetti A, Fucci L, Milan G, Tripodi F, Giustezza F, Postiglione A, Pappatà S, Ferrari R, Bossù P, Angiolillo A, di Costanzo A, Caiazzo M, Vitale E. CD33 and SIGLECL1 Immunoglobulin Superfamily Involved in Dementia. Journal of Neuropathology and Experimental Neurology. 79: 891-901. PMID 32647856 DOI: 10.1093/jnen/nlaa055   
2020 Alaoui-Ismaili FZ, Laghmich A, Ghailani-Nourouti N, Barakat A, Bennani-Mechita M. I Polymorphism in Sickle Cell Disease in North Morocco. Hemoglobin. 1-5. PMID 32508152 DOI: 10.1080/03630269.2020.1772284   
2020 Wang CZ, Guo LL, Guo QH, Mu YM. NBPF9 Gene May Be Involved in Congenital Hypopituitarism: A Whole-Genome Study of a Boy with Pituitary Stalk Interruption Syndrome and His Family. International Journal of Endocrinology. 2020: 5401738. PMID 32733554 DOI: 10.1155/2020/5401738   
2020 Velasco HM, Ullah E, Martin AM, Hufnagel RB, Prada CE. Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis. American Journal of Medical Genetics. Part A. PMID 32783359 DOI: 10.1002/ajmg.a.61782   
2020 Song J, Zhang JW, Fu J, Pang M, Li G, Ma MM. [Clinical, myopathological and genetic features of two Chinese families with paramyotonia congenita]. Zhonghua Nei Ke Za Zhi. 59: 535-539. PMID 32594687 DOI: 10.3760/cma.j.cn112138-20191014-00690   
2020 Ferreira MAR, Vonk JM, Baurecht H, Marenholz I, Tian C, Hoffman JD, Helmer Q, Tillander A, Ullemar V, Lu Y, Grosche S, Rüschendorf F, Granell R, Brumpton BM, Fritsche LG, ... , ... , et al. Age-of-onset information helps identify 76 genetic variants associated with allergic disease. Plos Genetics. 16: e1008725. PMID 32603359 DOI: 10.1371/journal.pgen.1008725   
2020 Dimitriou E, Moraitou M, Cozar M, Serra-Vinardell J, Vilageliu L, Grinberg D, Mavridou I, Michelakakis H. Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece. Molecular Genetics and Metabolism Reports. 24: 100614. PMID 32547927 DOI: 10.1016/j.ymgmr.2020.100614   
2020 Cherny S, Olson R, Chiodo K, Balmert LC, Webster G. Changes in genetic variant results over time in pediatric cardiomyopathy and electrophysiology. Journal of Genetic Counseling. PMID 32706166 DOI: 10.1002/jgc4.1313   
2020 Ghukasyan LG, Krasnov GS, Muravenko OV, Ikonnikova AY, Yurasov RA, Baidun LV, Ibragimova SZ, Nasedkina TV. [Driver Mutations in Acute Myeloid Leukemia with Inversion of Chromosome 16]. Molekuliarnaia Biologiia. 54: 389-397. PMID 32492002 DOI: 10.31857/S002689842003015510.31857/S0026898420030076   
2020 Negrão L, Machado R, Lourenço M, Fernandez-Marmiesse A, Rebelo O. Laing early-onset distal myopathy with subsarcolemmal hyaline bodies caused by a novel variant in the gene. Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology. 39: 24-28. PMID 32607476 DOI: 10.36185/2532-1900-004   
2020 Sen K, Finau M, Ghosh P. Bi-allelic variants in PNPLA6 possibly associated with Parkinsonian features in addition to spastic paraplegia phenotype. Journal of Neurology. PMID 32623594 DOI: 10.1007/s00415-020-10028-w   
2020 Morales F, Vásquez M, Corrales E, Vindas-Smith R, Santamaría-Ulloa C, Zhang B, Sirito M, Estecio MR, Krahe R, Monckton DG. Longitudinal increases in somatic mosaicism of the expanded CTG repeat in myotonic dystrophy type 1 are associated with variation in age-at-onset. Human Molecular Genetics. PMID 32601694 DOI: 10.1093/hmg/ddaa123   
2020 Bilbao Garay I, Daly AF, Egaña Zunzunegi N, Beckers A. Pituitary Disease in Mutation-Positive Familial Isolated Pituitary Adenoma (FIPA): A Kindred-Based Overview. Journal of Clinical Medicine. 9. PMID 32604740 DOI: 10.3390/jcm9062003   
2020 Yoshihara H, Sugiura-Ogasawara M, Ozawa F, Kitaori T, Ozaki Y, Aoki K, Shibata Y, Ugawa S, Nishiyama T, Omae Y, Tokunaga K. Polo-like kinase 4 and Stromal antigen 3 are not associated with recurrent pregnancy loss caused by embryonic aneuploidy. Human Genome Variation. 7: 18. PMID 32528715 DOI: 10.1038/s41439-020-0106-2   
2020 Xu X, Liu W, Liu Z, Fan J, Zhou Y. Mapping Powdery Mildew Resistance Gene on Chromosome 7B of Chinese Wheat ( L.) Landrace Youbailan. Plant Disease. PDIS01200118RE. PMID 32658634 DOI: 10.1094/PDIS-01-20-0118-RE   
2020 Tunca C, Şeker T, Akçimen F, Coşkun C, Bayraktar E, Palvadeau R, Zor S, Koçoğlu C, Kartal E, Şen NE, Hamzeiy H, Özoğuz Erimiş A, Norman U, Karakahya O, Olgun G, et al. Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database. Human Mutation. PMID 32579787 DOI: 10.1002/humu.24055   
2020 Kluwe L, Friedrich RE, Farschtschi SC, Hagel C, Kehrer-Sawatzki H, Mautner VF. Null phenotype of neurofibromatosis type 1 in a carrier of a heterozygous atypical NF1 deletion due to mosaicism. Human Mutation. 41: 1226-1231. PMID 32248581 DOI: 10.1002/humu.24022   
2020 Ahmed Z, Zeeshan S, Mendhe D, Dong X. Human gene and disease associations for clinical-genomics and precision medicine research. Clinical and Translational Medicine. 10: 297-318. PMID 32508008 DOI: 10.1002/ctm2.28   
2020 de Carvalho AC, Perdomo S, Dos Santos W, Fernandes GC, de Jesus LM, Carvalho RS, Scapulatempo-Neto C, de Almeida GC, Sorroche BP, Arantes LMRB, Melendez ME, De Marchi P, Hayes N, Reis RM, Carvalho AL. Impact of genetic variants in clinical outcome of a cohort of patients with oropharyngeal squamous cell carcinoma. Scientific Reports. 10: 9970. PMID 32561788 DOI: 10.1038/s41598-020-66741-z   
2020 Huang L, Li L, Li Q, Chen J, Lin S, Li K, Fan D, Jin W, Li Y, Yang X, Xiong Y, Li M, Yang X. Different Clinical Phenotypes Caused by Three Missense Mutations in Three Chinese Families with Moderate Hemophilia A. Dna and Cell Biology. PMID 32589464 DOI: 10.1089/dna.2020.5359   
2020 Zhao H, He L, Li S, Huang H, Tang F, Han X, Lin Z, Tian C, Huang R, Zhou P, Huang J, Deng S, Li Z. Generation of corrected-hiPSC (USTCi001-A-1) from epilepsy patient iPSCs using TALEN-mediated editing of the SCN1A gene. Stem Cell Research. 46: 101864. PMID 32544858 DOI: 10.1016/j.scr.2020.101864   
2020 Tanaka H, Watanabe Y, Hirano S, Tada H, Nomura A, Kawashiri MA, Takenaga M. Sitosterolemia Exhibiting Severe Hypercholesterolemia with Tendon Xanthomas Due to Compound Heterozygous ABCG5 Gene Mutations Treated with Ezetimibe and Alirocumab. Internal Medicine (Tokyo, Japan). PMID 32713907 DOI: 10.2169/internalmedicine.3811-19   
2020 Franklin JP, Cooper-Knock J, Baheerathan A, Moll T, Männikkö R, Heverin M, Hardiman O, Shaw PJ, Hanna MG. Concurrent sodium channelopathies and amyotrophic lateral sclerosis supports shared pathogenesis. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. 1-4. PMID 32619119 DOI: 10.1080/21678421.2020.1786128