关注
Reymundo Lozano
Reymundo Lozano
在 mssm.edu 的电子邮件经过验证
标题
引用次数
引用次数
年份
Fragile X spectrum disorders
R Lozano, CA Rosero, RJ Hagerman
Intractable & rare diseases research 3 (4), 134-146, 2014
1892014
Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations
S De Rubeis, PM Siper, A Durkin, J Weissman, F Muratet, D Halpern, ...
Molecular autism 9, 1-20, 2018
1642018
Fragile X syndrome: A review of clinical management
R Lozano, A Azarang, T Wilaisakditipakorn, RJ Hagerman
Intractable & rare diseases research 5 (3), 145-157, 2016
992016
Modulation of the GABAergic pathway for the treatment of fragile X syndrome
R Lozano, EB Hare, RJ Hagerman
Neuropsychiatric disease and treatment, 1769-1779, 2014
912014
Association of β-defensin 1 single nucleotide polymorphisms with atopic dermatitis
E Prado-Montes de Oca, A García-Vargas, R Lozano-Inocencio, ...
International archives of allergy and immunology 142 (3), 211-218, 2007
882007
Prospective investigation of FOXP1 syndrome
PM Siper, S De Rubeis, MP Trelles, A Durkin, D Di Marino, F Muratet, ...
Molecular autism 8, 1-16, 2017
782017
A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome
A Ligsay, A Van Dijck, DV Nguyen, R Lozano, Y Chen, ES Bickel, D Hessl, ...
Journal of neurodevelopmental disorders 9, 1-13, 2017
722017
Effectiveness and safety of levosulpiride in the treatment of dysmotility-like functional dyspepsia
R Lozano, MGP Concha, A Montealegre, L De Leon, JO Villalba, ...
Therapeutics and Clinical Risk Management 3 (1), 149-155, 2007
662007
De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing
SP Strom, R Lozano, H Lee, N Dorrani, J Mann, PF O’Lague, N Mans, ...
BMC Medical Genetics 15, 1-8, 2014
642014
A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment
R Lozano, A Vino, C Lozano, SE Fisher, P Deriziotis
European journal of human genetics 23 (12), 1702-1707, 2015
632015
Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers
DA Hall, E Robertson, AL Shelton, MC Losh, M Mila, EG Moreno, ...
The Cerebellum 15, 578-586, 2016
482016
Addictive substances may induce a rapid neurological deterioration in fragile X-associated tremor ataxia syndrome: A report of two cases
Z Muzar, PE Adams, A Schneider, RJ Hagerman, R Lozano
Intractable & rare diseases research 3 (4), 162-165, 2014
452014
Inborn error metabolic screening in individuals with nonsyndromic autism spectrum disorders
J Campistol, M Díez‐Juan, L Callejón, A Fernandez‐De Miguel, ...
Developmental Medicine & Child Neurology 58 (8), 842-847, 2016
432016
FOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring
R Lozano, C Gbekie, PM Siper, S Srivastava, JM Saland, S Sethuram, ...
Journal of Neurodevelopmental Disorders 13, 1-18, 2021
392021
Strong evidence for genotype–phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium
T Levy, JH Foss-Feig, C Betancur, PM Siper, MP Trelles-Thorne, ...
Human molecular genetics 31 (4), 625-637, 2022
382022
A Novel ZRS Mutation Leads to Preaxial Polydactyly Type 2 in a Heterozygous Form and W erner Mesomelic Syndrome in a Homozygous Form
JE VanderMeer, R Lozano, M Sun, Y Xue, D Daentl, EW Jabs, WR Wilcox, ...
Human mutation 35 (8), 945-948, 2014
372014
Executive Dysfunction in Female FMR1 Premutation Carriers
AL Shelton, KM Cornish, CM Kraan, R Lozano, M Bui, J Fielding
The Cerebellum 15, 565-569, 2016
322016
Advances in the understanding of the gabaergic neurobiology of FMR1 expanded alleles leading to targeted treatments for fragile X spectrum disorder
R Lozano, V Martinez-Cerdeno, R J Hagerman
Current pharmaceutical design 21 (34), 4972-4979, 2015
292015
Methadone use in a male with the FMRI premutation and FXTAS
Z Muzar, R Lozano, A Schneider, PE Adams, SMH Faradz, F Tassone, ...
American Journal of Medical Genetics Part A 167 (6), 1354-1359, 2015
272015
Genomic studies in fragile X premutation carriers
R Lozano, RJ Hagerman, M Duyzend, DB Budimirovic, EE Eichler, ...
Journal of neurodevelopmental disorders 6, 1-8, 2014
272014
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