Fragile X spectrum disorders

Lozano, Reymundo, Rosero, Carolina Alba, Hagerman, Randi J·2014·Intractable & Rare Diseases Research
DOI 10.5582/irdr.2014.01022

Cited by (186)

Items 101–186 of 186

  1. Fragile X syndrome in young females: Influence of executive function on the neurocognitive profile and adaptive behavior
    Lorena Joga‐Elvira, Carlos Jacas, María‐Luisa Joga, Ana Roche‐Martínez, Carme Brun i Gasca · 2021 · Research in Developmental Disabilities
  2. Association between mutations in the FMR1 gene and ovarian dysfunction in Brazilian patients
    Cinthia Ramos, Maristela Ocampos, Ingrid Tremel Barbato, Viviane Margareth Scantamburlo, Maria da Graça Bicalho, Renato Nisihara · 2021 · JBRA
  3. Stem Cell Technology for (Epi)genetic Brain Disorders
    Renzo J. M. Riemens, Edilene Siqueira Soares, Manel Esteller, Raúl Delgado‐Morales · 2017 · Advances in experimental medicine and biology
  4. Pilot study of socio-emotional factors and adaptive behavior in young females with fragile X syndrome
    Lorena Joga‐Elvira, Carlos Jacas, María‐Luisa Joga, Ana Roche‐Martínez, Carme Brun i Gasca · 2021 · Child Neuropsychology
  5. Endocrine Dysfunction in Female FMR1 Premutation Carriers: Characteristics and Association with Ill Health
    Sonya Campbell, Sarah E. A. Eley, Andrew G. McKechanie, Andrew C. Stanfield · 2016 · Genes
  6. Decreased functional brain response to emotional arousal and increased psychiatric symptomology in FMR1 premutation carriers
    Stephanie S. G. Brown, Heather Clare Whalley, Peter C. Kind, Andrew C. Stanfield · 2019 · Psychiatry Research Neuroimaging
  7. Reconciling the effects of PMS2 in different repeat expansion disease models supports a common expansion mechanism
    Diego Antonio Jimenez, Carson J. Miller, Alexandra K. Walker, Kusala Anupindi, Bruce E. Hayward, Hernan A. Lorenzi, Karen Usdin, Xiao-Nan Zhao · 2024 · bioRxiv (Cold Spring Harbor Laboratory)
  8. Towards a Better Molecular Diagnosis of FMR1-Related Disorders—A Multiyear Experience from a Reference Lab
    Sylwia Rzońca, Monika Goś, Daniel Szopa, Danuta Sielska-Rotblum, Aleksandra Landowska, Agnieszka Szpecht-Potocka, Michał I. Milewski, Jolanta Czekajska, Anna Abramowicz, Ewa Obersztyn et al. · 2016 · Genes
  9. Exploring Parents’ Concerns Regarding Long-Term Support and Living Arrangements for Their Children with Fragile X Syndrome
    Kaylynn Shuleski, Laura X. Zalles, Reymundo Lozano · 2022 · Genes
  10. A female with typical fragile-X phenotype caused by maternal isodisomy of the entire X chromosome
    Jin‐Kyung Kim, Ji Eun Jeong, Jong-Moon Choi, Gu-Hwan Kim, Han‐Wook Yoo · 2020 · Journal of Human Genetics
  11. Application of brain organoids in neurodevelopmental disorders
    Chao Zhao, Yong Qi, Lu Xia, Tengfei Zhu, Kun Xia · 2025 · Biochemical and Biophysical Research Communications
  12. The incidence and clinical characteristics of fragile X syndrome in China
    Lianni Mei, Chunchun Hu, Dongyun Li, Ya Wang, Huiping Li, Kaifeng Zhang, Bing‐Rui Zhou, Ruoping Zhu, Randi Jenssen Hagerman, Xiu Xu et al. · 2023 · Frontiers in Pediatrics
  13. Growth-suppressor microRNAs mediate synaptic overgrowth and behavioral deficits in Fragile X mental retardation protein deficiency
    Megha P. Subramanian, William T. Mills, Manish D. Paranjpe, Uche S Onuchukwu, Manasi Inamdar, Amanda R Maytin, Xinbei Li, Joel L. Pomerantz, Mollie K. Meffert · 2023 · iScience
  14. Recurrent Neurodevelopmentally Associated Variants of the Pre-mRNA Splicing Factor U2AF2 Alter RNA Binding Affinities and Interactions
    Debanjana Maji, Jermaine L. Jenkins, Paul L. Boutz, Clara L. Kielkopf · 2024 · Biochemistry
  15. Heterogeneity of clinical characteristics of FMR1-related disorders
    Переверзева Дарья Станиславаовна, Тюшкевич Светлана Анатольевна, N. L. Gorbachevskaya, Uliana A. Mamokhina, Данилина Камилла Касимовна · 2019 · S S Korsakov Journal of Neurology and Psychiatry
  16. Parent and Caregiver Perspectives towards Cannabidiol as a Treatment for Fragile X Syndrome
    Madison Maertens, Hailey Silver, Jayne Dixon Weber, Hilary Rosselot, Reymundo Lozano · 2022 · Genes
  17. The Use of CGH Arrays for Identifying Copy Number Variations in Children with Autism Spectrum Disorder
    Agata Kucińska, Wanda Hawuła, Lena Rutkowska, Urszula Wysocka, Łukasz Kępczyński, Małgorzata Piotrowicz, Tatiana Chilarska, Nina Wieczorek‐Cichecka, Katarzyna Połatyńska, Łukasz Przysło et al. · 2024 · Brain Sciences
  18. Fragile X syndrome with mosaic size mutation in a Bantu patient from Central Africa
    Toni Kasole Lubala, Aimé Zola Lumaka, Sébastien Mbuyi‐Musanzayi, Tony Kayembe‐Kitenge, Mick Yapongombo Shongo, Olivier Kabiriko Mukuku, Nina Lubala, Didier Malamba-Lez, Oscar Numbi Luboya, Prosper Lukusa-Tshilobo · 2018 · Clinical Dysmorphology
  19. Altered Functional Connectivity in a Mouse Model of Fragile X Syndrome
    Miguel Dasilva, Alvaro Navarro-Guzman, Luca Maiolo, Andrés Ozaita, Maria Victoria Sanchez-Vives · 2018 · Advances in cognitive neurodynamics
  20. Usefulness of fragile X checklist and CGG distribution in specialized institutions in Kinshasa, DR Congo
    Aimé Zola Lumaka, Toni Kasole Lubala, Valérie Race, Hilde Peeters, Prosper Lukusa-Tshilobo, Koenraad Devriendt · 2018 · Journal of Community Genetics
  21. Tissue-Specific Effects of the DNA Helicase FANCJ/BRIP1/BACH1 on Repeat Expansion in a Mouse Model of the Fragile X-Related Disorders
    Diego Antonio Jimenez, Alexandra K. Walker, Karen Usdin, Xiao-Nan Zhao · 2025 · International Journal of Molecular Sciences
  22. Altered Auditory Maturation in Fragile X Syndrome and Its Involvement in Audiogenic Seizure Susceptibility
    Dorit Möhrle, Demi Ma, Wenyue Xue, Jun Yan, Ning Cheng · 2025 · Autism Research
  23. Deep functional measurements of Fragile X syndrome human neurons reveal multiparametric electrophysiological disease phenotype
    James J. Fink, Nathaniel Delaney-Busch, Ryan P. Dawes, Evanthia Nanou, Christopher J. Folts, Karthiayani Harikrishnan, Chris Martin Hempel, Hansini Upadhyay, Trinh Mai Nguyen, Himali Shroff et al. · 2024 · Communications Biology
  24. Repeat expansion in a fragile X model is independent of double strand break repair mediated by Pol θ, RAD52, RAD54 or RAD54B
    Bruce E. Hayward, Geum-Yi Kim, Carson J. Miller, Cai McCann, Megan G. Lowery, Richard Dean Wood, Karen Usdin · 2025 · Scientific Reports
  25. Autism genes: the continuum that connects us all
    Rashmi Parihar, Subramaniam Ganesh · 2016 · Journal of Genetics
  26. [A review on the role of γ-aminobutyric acid signaling pathway in autism spectrum disorder].
    Bing Wang, Honghua Li, Xiao-Jing Yue, Feiyong Jia, Lin Du · 2018 · PubMed Central
  27. Identity and Reproductive Aspects in Females with Fragile X Syndrome
    Sarah Reiss, Laura X. Zalles, Catherine Gbekie, Reymundo Lozano · 2021 · Women s Health Reports
  28. Stem Cell-Based Therapeutic Approaches in Genetic Diseases
    Ayça Aslan, Selcen Arı Yuka · 2023 · Advances in experimental medicine and biology
  29. Molecular analysis of FMR1 gene in a population in Southern Brazil: Comparison of four methods
    Cinthia Ramos, Maristela Ocampos, Ingrid Tremel Barbato, Maria da Graça Bicalho, Renato Nisihara · 2020 · Practical Laboratory Medicine
  30. Espectro de manifestaciones asociadas a X Frágil: descripción clínica y molecular de FMR1 en una familia Mexicana
    Aurelio Jara‐Prado, Mayela Rodríguez‐Violante, Danihui Sánchez‐García, David José Dávila‐Ortiz de Montellano · 2020 · Archivos de Neurociencias
  31. Electroretinographic Findings in Fragile X, Premutation, and Controls: A Study of Biomarker Correlations
    Hasan Hasan, Hazel Maridith Barlahan Biag, Ellery R. Santos, Jamie Leah Randol, Robert H. Ring, Flora Tassone, Paul J. Hagerman, Randi Jenssen Hagerman · 2025 · International Journal of Molecular Sciences
  32. Polymorphic CGG repeats in gene regulation and disease
    Yijing Zhao, Dale John Annear, Emily Graves Allen, R. Frank Kooy, David Lee Nelson, Peng Jin · 2026 · The American Journal of Human Genetics
  33. Expansión del triplete citosina-guanina-guanina: 3 casos de síndrome OMIM en una misma familia
    Jesús González-Pérez, Silvia Izquierdo Álvarez, Cristina Fuertes Rodrigo, L. Monge Galindo, José Luis Peña Segura, Javier López Pisón · 2016 · Medicina Clínica
  34. Fragile X syndrome in children with learning difficulties and the diagnostic dilemma
    Bhagya Chandrasekara, Sulochana Wijesundera, Hemamali N. Perera · 2016 · Sri Lanka Journal of Child Health
  35. Triplet expansion cytosine–guanine–guanine: Three cases of OMIM syndrome in the same family
    Jesús González-Pérez, Silvia Izquierdo Álvarez, Cristina Fuertes Rodrigo, L. Monge Galindo, José Luis Peña Segura, Javier López Pisón · 2016 · Medicina Clínica (English Edition)
  36. Epigenetic causes of intellectual disability—the fragile X syndrome paradigm
    Elisabetta Tabolacci, Giovanni Neri · 2016 · Elsevier eBooks
  37. Fragile X Syndrome in a Colombian Family
    Universidad del Valle, Wilmar Saldarriaga, Randi Jenssen Hagerman, María Jimena Salcedo‐Arellano, Universidad del Valle, F Tassone, Julián Ramírez‐Cheyne, Universidad de Valle, M Silva, United States · 2018 · IATREIA
  38. Study of the Interaction between Executive Function and Adaptive Behavior at School in Girls with Fragile X Syndrome
    Lorena Joga‐Elvira, Jennifer Martinez-Olmo, María‐Luisa Joga, Carlos Jacas, Ana Roche‐Martínez, Carme Brun i Gasca · 2021 · Genes
  39. Spectrum of Syndromal Disorders Associated with Expansion of CGG Repeats of the FMR1 Gene Promoter: Pathogenetic Mechanisms and Clinical Manifestations
    Переверзева Дарья Станиславаовна, Тюшкевич Светлана Анатольевна, Evgeniia Ulas, N. L. Gorbachevskaya · 2023 · Neuroscience and Behavioral Physiology
  40. Cytosine–guanine–guanine repeats of FMR1 gene negatively affect ovarian reserve and response in Chinese women
    Xinyang Jin, Wenshan Zeng, Yanfei Xu, Pengzhen Jin, Minyue Dong · 2023 · Reproductive BioMedicine Online
  41. Epigenetic causes of intellectual disability—the fragile X syndrome paradigm
    Elisabetta Tabolacci, Giovanni Neri · 2024 · Elsevier eBooks
  42. A survey of patients with mental retardation of unknown origin
    Afshin Yarmohammadi, Fatemeh Keshavarzi, Mokhtar Farhadian · 2016 · Journal of Basic Research in Medical Sciences
  43. Altered Behaviour Associated With Autism in a Mouse Model of Fragile X Syndrome Treated With Bacteroides Fragilis BF839
    Chu-Hui Lin, Ting Zeng, Jianhong Lin, Feng Xiao, Bing-Mei Li, Shengqiang Chen, Yuhong Deng · 2020
  44. Bibliography
    2018 · Elsevier eBooks
  45. Tall Stature
    Sabine Elisabeth Hannema, Lars S Savendahl · 2018 · Elsevier eBooks
  46. Repeat expansion in a Fragile X model is independent of double strand break repair mediated by Pol θ, Rad52, Rad54l or Rad54b
    Bruce E. Hayward, Geum-Yi Kim, Carson J. Miller, Cai McCann, Megan G. Lowery, Richard Dean Wood, Karen Usdin · 2024 · bioRxiv (Cold Spring Harbor Laboratory)
  47. Early-life Oxytocin Rescues Hippocampal Synaptic Plasticity and Episodic Memory in a Mouse Model of Fragile X Syndrome
    Jasmine Chavez, Aliza A. Le, Julie C. Lauterborn, Brittney M. Cox, Yousheng Jia, GARY S. LYNCH, Christine M. Gall · 2024 · bioRxiv (Cold Spring Harbor Laboratory)
  48. Stem Cells to Understand the Pathophysiology of Autism Spectrum Disorders
    Maria Rita Passos‐Bueno, Karina Griesi‐Oliveira, Andrea Laurato Sertie, Gerson Shigeru Kobayashi · 2015 · Stem cell biology and regenerative medicine
  49. What Mechanisms Induce Methylation of FMR1 Gene Full Mutation? A Still Unanswered Question
    Elisabetta Tabolacci, Giovanni Neri · 2016 · Epigenetics and human health
  50. FMRP and the Pathophysiology of Fragile X Syndrome
    Stephanie A. Barnes, Sophie R. Thomson, Peter C. Kind, Emily K. Osterweil · 2016 · Elsevier eBooks
  51. Babies born from three young infertile sisters with premature ovarian insufficiency caused by inherited fragile X syndrome: An intergenerational report
    Chang-Chih Hsieh, Chi‐Huang Chen, Szu-Yu Shen, Chii‐Ruey Tzeng · 2017 · Taiwanese Journal of Obstetrics and Gynecology
  52. Investigação da etiologia de malformações craniofaciais com uso de células derivadas de crista neural
    Gerson Shigeru Kobayashi · 2016 · Digital Library of Theses and Dissertations (Universidade de São Paulo)
  53. Transtornos do espectro autista em pacientes com a pré-mutação do gene FMR1
    Ana Cristina De Sanctis Girardi · 2018
  54. Envolvimento do óxido nítrico na metilação do DNA induzida por estresse
    Izaque de Sousa Maciel · 2018
  55. Fragile X-associated tremor ataxia syndrome and cognitive impairment
    Dhiren Singh, Thomas L. Davis · 2018 · Australian & New Zealand Journal of Psychiatry
  56. Epigenetic dysregulation in the fragile X-related disorders
    Karen Usdin, Daman Kumari · 2019 · Elsevier eBooks
  57. Fragile X Syndrome
    Harold Chen · 2016 · Springer eBooks
  58. Clinical and Genetic Characteristics of Young Children with Fragile X Syndrome
    So-Hee Lee, Ji Eun Jeong, Yoonyoung Jang, Jin‐Kyung Kim · 2021 · Annals of Child Neurology
  59. Fragile X Syndrome
    Mirna Lechpammer · 2021 · Cambridge University Press eBooks
  60. Sella TurcicaShape in Fragile X Syndrome
    Reinhard Edgar Friedrich · 2021 · In Vivo
  61. Reactivity determination in subcritical fast reactors by an area ratio method
    G.J. Dorning · 1974 · Transactions of the American Nuclear Society
  62. Fragile X Syndrome
    Harold Chen · 2017 · Springer eBooks
  63. Introduction
    Eric P. Hazen, Christopher J. McDougle · 2018 · Current clinical psychiatry
  64. Spontaneous Synchronous Network Activity Underlying The Development Of Immature Rodent Medial Prefrontal Cortex
    Johny Helder Da Silva Dias Pires · 2022
  65. Co-existence of Odontogenic Myxoma and Fragile X Syndrome: A Rare Report and Review of Management Considerations
    Dominic Augustine, SV Sowmya, Kavitha Prasad, Rajanikanth B Rajaram, Mirunalini Gunasekaran · 2023 · World Journal of Dentistry
  66. Translational modulation by ISRIB alleviates synaptic and behavioral phenotypes in Fragile X syndrome
    Rochelle L. Coulson, Valentina Frattini, Caitlin E. Moyer, Jennifer Hodges, Peter Walter, Philippe Mourrain, Yi Zuo, Gordon X. Wang · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
  67. Diagnosing Neurodevelopmental, Behavioral, and Mental Disorders Associated with Fragile X Syndrome with the ICD-11
    Dejan Stevanović · 2023 · Advances in Neurodevelopmental Disorders
  68. Tspan15 depletion in mice affects social investigation and aggressive behavior
    Daniele Stajano, Sandra Freitag, Paul Säftig, Kira V. Gromova, Matthias Kneussel · 2024 · bioRxiv (Cold Spring Harbor Laboratory)
  69. The FMR1 Phenotype: Premutation and Fragile X Syndrome
    Holley P. Arnold, Erin E. Hunt, Rachel M. Hantman, Conner J. Black, Chandler E. Knott, Danielle R. Lynch, Jane E. Roberts · 2024 · Contemporary clinical neuroscience
  70. Attention Deficit Disorder Genetics: There May Be More than Meets the Eye
    Sylvia ROSE, Marion Lesieur‐Sebellin, Giulia Barcia, Judite De Oliveira Santos, Zaina Ait Arkoub, Farid Abada, Julie Steffann, Guillaume Dorval · 2025 · SSRN Electronic Journal
  71. Tall stature
    Sabine Elisabeth Hannema, Lars S Savendahl · 2025 · Elsevier eBooks
  72. A Primary Care Approach to Visual Screening in Adults with Intellectual and Developmental Disabilities
    Alexander K. Black, Alex C. Weaver, Rafik Jacob · 2025 · Southern Medical Journal
  73. Endocrinopathy, dystonia, and tremor in a patient with homozygous MRPL49 mutation
    Mehri Salari, Mahdieh Afroozian, Kamran Rezaei, Masoud Etemadifar · 2025 · Acta Neurologica Belgica
  74. Associations Between Altered Auditory EEG Markers and Clinical Impairments in Fragile X Syndrome
    Mélodie Proteau-Lemieux, Inga Sophia Knoth, Saeideh Davoudi, Charles-Olivier Martin, Anne-Marie Bélanger, Valérie K. Fontaine, Hazel Maridith Barlahan Biag, Leonard Abbeduto, Sébastien Jacquemont, David R. Hessl et al. · 2025 · Journal of Autism and Developmental Disorders
  75. Overlapping Pathways: Autism Spectrum Disorder in Fragile X Carrier States and the Need for Greater Awareness
    Maria V Fernandez, Alexandra Sirven, Brooke Pickles, Sheena Hamid, Aimee Nunez Selva · 2025 · Cureus
  76. Olfactory Deficits in Fragile X Syndrome
    Praveen Kuruppath · 2026 · European Journal of Neuroscience
  77. Stimulation of the medial septum diagonal band of broca rescues learning and memory deficits in Fmr1 KO mice
    Mohamed Ouardouz, Amanda E. Hernan, J.Matthew Mahoney, Rod C. Scott · 2026 · iScience
  78. Analysis of CGG repeat numbers in the FMR1 gene among women of childbearing age in Northeast Sichuan
    Liping Chen, Xuemei Zhang, Yi Song, Li Chen, Yongjun He, Yang Li, Yan Cai, Qi Wu Shi · 2026 · BMC Genomic Data
  79. Investigating the plasticity of sensory cortical circuits in the context of learning in the wild-type mouse and a conditional mouse model of fragile X syndrome
    Melissa A. Erlandson · 2017 · theses.fr (ABES)
  80. Impact des carences affectives précoces et des traumatismes relationnels précoces sur les capacités de mentalisation et la formation des imagos parentales chez l’enfant déficient intellectuel
    Coralie Depoorter · 2020
  81. Mécanismes de LIS1 dans les progéniteurs neuraux contribuant aux malformations de développement du cortex
    Maxime Penisson · 2020 · theses.fr (ABES)
  82. Pycnodysostosis With Papilledema and Isolated Low Parathyroid Hormone Levels in an Eight‐Year‐Old Girl: A Genetically Confirmed Case Report
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  83. When R‐Loops Go Awry: Genome Instability and Neurological Diseases
    Nur Rasyiqin Rasli, Yu Katsuyama · 2026 · European Journal of Neuroscience
  84. FMR1 gene therapy restores activity-driven inhibition and prevents audiogenic seizures in Fmr1 -/y mice
    Beatriz Maio, Aditi Singh, Ralph Hector, Kamal K.E. Gadalla, Jim Selfridge, Francesca Aria, Susana R. Louros, Stuart Cobb, Emily K. Osterweil · 2026 · bioRxiv (Cold Spring Harbor Laboratory)
  85. Reconciling the effects of PMS2 in different repeat expansion disease models supports a common expansion mechanism
    Carson J. Miller, Diego Antonio Jimenez, Alexandra Walker, Kusala Anupindi, Bruce E. Hayward, Hernán Lorenzi, Karen Usdin, Xiao-Nan Zhao · 2026 · PNAS Nexus
  86. Large-Scale EHR-Based Phenotyping of an FMR1 Premutation Cohort at a Referral Hospital
    Aadil Rasheed, Jonas Ebner, Akhyar Ahmed, Lothar H. Wieler, Girish N. Nadkarni, Reymundo Lozano, Esther-Maria Antão · 2026 · medRxiv