Works about FRAGILE X syndrome

Results: 2201

Atypical Retinal Ganglion Cell Function in a Mouse Model of Fragile X Syndrome.

Published in:

Journal of Neuroscience, 2025, v. 45, n. 27, p. 1, doi. 10.1523/JNEUROSCI.0013-25.2025

By:

Vlasits, Anna L.;
Syeda, Maria;
Wickman, Annelise;
Laskey, Elias;
Guzman, Pedro;
Schmidt, Tiffany M.

Publication type:

Article

RNA G-quadruplexes: emerging regulators of gene expression and therapeutic targets.

Published in:

Functional & Integrative Genomics, 2025, v. 25, n. 1, p. 1, doi. 10.1007/s10142-025-01656-4

By:

Ruzi, Zukela;
Zha, Wei;
Yuan, Huang Yuan;
Liu, Jiaorui

Publication type:

Article

Identification of a De Novo Heterozygous Frameshift Variant in FMR1 in a Female With Fragile X Syndrome.

Published in:

Clinical Genetics, 2025, v. 108, n. 2, p. 224, doi. 10.1111/cge.14761

By:

Parra, Alejandro;
Jimenez‐Estrada, Juan A.;
Vásquez‐Amell, Valeria;
Cazalla, Mario;
Rodríguez‐Canó, Manuel;
Gallego‐Zazo, Natalia;
Miranda, Lucia;
Mora‐Gómez, Mónica;
Vallespín, Elena;
Mena, Rocío;
Fernández, Luis;
Silván, Cristina;
Arias, Pedro;
Dominguez‐Jiménez, Marta;
Guillén‐Navarro, Encarna;
Nevado, Julián;
Tenorio‐Castano, Jair;
Ruiz‐Pérez, Víctor L.;
Lapunzina, Pablo

Publication type:

Article

Aspecte clinico-genetice în sindromul X fragil la copii.

Published in:

Journal for Neurology & Psychiatry of Child & Adolescent in Romania, 2025, v. 31, n. 1, p. 45

By:

Sprincean, Mariana;
Hadjiu, Svetlana;
Sprincean, Serghei;
CălcîI, Cornelia;
Vasilachi, Dorina;
Badan, Liliana;
Balica, Natalia;
Constantin, Olga;
Capestru, Elena;
Istratiuc, Irina;
Racoviță, Stela;
Dumitraș, Aliona;
Revenco, Ninel;
Groppa, St.

Publication type:

Article

Altered auditory feature discrimination in a rat model of Fragile X Syndrome.

Published in:

PLoS Biology, 2025, v. 23, n. 7, p. 1, doi. 10.1371/journal.pbio.3003248

By:

Gauthier, D. Walker;
James, Noelle;
Auerbach, Benjamin D.

Publication type:

Article

Couple-Based Carrier Screening: How Gene and Variant Considerations Impact Outcomes.

Published in:

Genes, 2025, v. 16, n. 6, p. 671, doi. 10.3390/genes16060671

By:

Lee, Eric;
Orton, Kaylee;
Kwan, Edward;
Faga, Claire;
Le, Trang;
Shaheen, Ranad;
Nair, Vivek;
Cliffe, Simon

Publication type:

Article

Evidenz für die Erscheinungsbilder von Sensorischen Integrationsstörungen.

Published in:

Ergotherapie & Rehabilitation, 2012, v. 51, n. 10, p. 24, doi. 10.2443/skv-s-2012-51020121004

By:

LOTZ, MELANIE;
SCHUH, DAGMAR

Publication type:

Article

Genes, brain, and behavior: development gone awry in autism? A report on the 23rd Annual International Symposium of the Center for the Study of Gene Structure and Function.

Published in:

Annals of the New York Academy of Sciences, 2010, v. 1206, p. E21, doi. 10.1111/j.1749-6632.2010.05723.x

By:

Lewis, Michael J.;
Dictenberg, Jason B.

Publication type:

Article

Genes, brain, and behavior: development gone awry in autism? A report on the 23rd Annual International Symposium of the Center for the Study of Gene Structure and Function.

Published in:

Annals of the New York Academy of Sciences, 2010, v. 1205, p. E21, doi. 10.1111/j.1749-6632.2010.05723.x

By:

Lewis, Michael J.;
Dictenberg, Jason B.

Publication type:

Article

Cancer risk in individuals with intellectual disability in Sweden: A population-based cohort study.

Published in:

2021

By:

Liu, Qianwei;
Adami, Hans-Olov;
Reichenberg, Abraham;
Kolevzon, Alexander;
Fang, Fang;
Sandin, Sven

Publication type:

journal article

A Novel Function for Fragile X Mental Retardation Protein in Translational Activation.

Published in:

PLoS Biology, 2009, v. 7, n. 1, p. e1000016, doi. 10.1371/journal.pbio.1000016

By:

Bechara, Elias G.;
Didiot, Marie Cecile;
Melko, Mireille;
Davidovic, Laetitia;
Bensaid, Mounia;
Martin, Patrick;
Castets, Marie;
Pognonec, Philippe;
Khandjian, Edouard W.;
Moine, Hervé;
Bardoni, Barbara

Publication type:

Article

Caracterización: fenotípica de varones adultos con diagnóstico de síndrome X frágil.

Published in:

Psychosocial Intervention, 2008, v. 17, n. 2, p. 201

By:

ALONSO, M. ISABEL GARCÍA;
GÓMEZ, M. BEGOÑA MEDINA

Publication type:

Article

Resilience in the Face of Fragile X Syndrome.

Published in:

2012

By:

Fourie, Chantel L.;
Theron, Linda C.

Publication type:

Journal Article

Nucleosomal occupancy and CGG repeat expansion: a comparative analysis of triplet repeat region from mouse and human fragile X mental retardation gene 1.

Published in:

Chromosome Research, 2011, v. 19, n. 4, p. 445, doi. 10.1007/s10577-011-9206-7

By:

Datta, Sonal;
Alam, Mohammad;
Majumdar, Subeer;
Mehta, Abhishek;
Maiti, Souvik;
Wadhwa, Neerja;
Brahmachari, Vani

Publication type:

Article

Screening for the presence of FMR1 premutation alleles in a Spanish population with fibromyalgia.

Published in:

Clinical Rheumatology, 2012, v. 31, n. 11, p. 1611, doi. 10.1007/s10067-012-2052-y

By:

Martorell, Loreto;
Tondo, Mireia;
Garcia-Fructuoso, Ferrán;
Naudo, Montserrat;
Alegre, Cayetano;
Gamez, Josep;
Genovés, Jordi;
Poo, Pilar

Publication type:

Article

Characterisation of Fmrp in zebrafish: evolutionary dynamics of thefmr1gene.

Published in:

Development Genes & Evolution, 2005, v. 215, n. 4, p. 198, doi. 10.1007/s00427-005-0466-0

By:

Padje, Sandra;
Engels, Bart;
Blonden, Lau;
Severijnen, Lies-Anne;
Verheijen, Frans;
Oostra, Ben;
Willemsen, Rob

Publication type:

Article

Fragile-X-associated Tremor/Ataxia Syndrome (FXTAS) in a Female with FMR1 Premutation: Case Report.

Published in:

2022

By:

Ocak, Özgül;
Sılan, Fatma

Publication type:

Case Study

Distributional Cues to Language Learning in Children With Intellectual Disabilities.

Published in:

Language, Speech & Hearing Services in Schools, 2018, v. 49, p. 653, doi. 10.1044/2018_LSHSS-STLT1-17-0128

By:

Kover, Sara T.

Publication type:

Article

Early Intervention Practices and Communication Intervention Strategies for Young Males With Fragile X Syndrome.

Published in:

Language, Speech & Hearing Services in Schools, 2003, v. 34, n. 4, p. 320, doi. 10.1044/0161-1461(2003/026)

By:

Mirrett, Penny L.;
Roberts, Joanne E.;
Price, Johanna

Publication type:

Article

Deep functional measurements of Fragile X syndrome human neurons reveal multiparametric electrophysiological disease phenotype.

Published in:

Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-024-07120-6

By:

Fink, James J.;
Delaney-Busch, Nathaniel;
Dawes, Ryan;
Nanou, Evanthia;
Folts, Christopher;
Harikrishnan, Karthiayani;
Hempel, Chris;
Upadhyay, Hansini;
Nguyen, Trinh;
Shroff, Himali;
Stoppel, David;
Ryan, Steven J.;
Jacques, Jane;
Grooms, Jennifer;
Berry-Kravis, Elizabeth;
Bear, Mark F.;
Williams, Luis A.;
Gerber, David;
Bunnage, Mark;
Furey, Brinley

Publication type:

Article

Special Issue "Diagnosis and Treatment of Rare Diseases".

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 9, p. 2574, doi. 10.3390/jcm13092574

By:

Hermida-Ameijeiras, Álvaro

Publication type:

Article

Case Series: Vestibular Migraines in Fragile X Premutation Carriers.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 2, p. 504, doi. 10.3390/jcm13020504

By:

Tak, YeEun;
Tassone, Flora;
Hagerman, Randi J.

Publication type:

Article

Trofinetide for Rett Syndrome: Highlights on the Development and Related Inventions of the First USFDA-Approved Treatment for Rare Pediatric Unmet Medical Need.

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 15, p. 5114, doi. 10.3390/jcm12155114

By:

Hudu, Shuaibu A.;
Elmigdadi, Fayig;
Qtaitat, Aiman Al;
Almehmadi, Mazen;
Alsaiari, Ahad Amer;
Allahyani, Mamdouh;
Aljuaid, Abdulelah;
Salih, Magdi;
Alghamdi, Adel;
Alrofaidi, Mohammad A.;
Abida;
Imran, Mohd

Publication type:

Article

Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): A Gender Perspective.

Published in:

Journal of Clinical Medicine, 2022, v. 11, n. 4, p. N.PAG, doi. 10.3390/jcm11041002

By:

Orsucci, Daniele;
Lorenzetti, Lucia;
Baldinotti, Fulvia;
Rossi, Andrea;
Vitolo, Edoardo;
Gheri, Fabio Luigi;
Napolitano, Alessandro;
Tintori, Giancarlo;
Vista, Marco

Publication type:

Article

Phonological awareness and reading in boys with fragile X syndrome.

Published in:

Journal of Child Psychology & Psychiatry, 2015, v. 56, n. 1, p. 30, doi. 10.1111/jcpp.12267

By:

Adlof, Suzanne M.;
Klusek, Jessica;
Shinkareva, Svetlana V.;
Robinson, Marissa L.;
Roberts, Jane E.

Publication type:

Article

Attention across modalities as a longitudinal predictor of early outcomes: the case of fragile X syndrome.

Published in:

Journal of Child Psychology & Psychiatry, 2012, v. 53, n. 6, p. 641, doi. 10.1111/j.1469-7610.2011.02515.x

By:

Scerif, Gaia;
Longhi, Elena;
Cole, Victoria;
Karmiloff‐Smith, Annette;
Cornish, Kim

Publication type:

Article

Social behavior and cortisol reactivity in children with fragile X syndrome.

Published in:

Journal of Child Psychology & Psychiatry, 2006, v. 47, n. 6, p. 602, doi. 10.1111/j.1469-7610.2005.01556.x

By:

Hessl, David;
Glaser, Bronwyn;
Dyer‐Friedman, Jennifer;
Reiss, Allan L.

Publication type:

Article

Annotation: Deconstructing the attention deficit in fragile X syndrome: a developmental neuropsychological approach.

Published in:

Journal of Child Psychology & Psychiatry, 2004, v. 45, n. 6, p. 1042, doi. 10.1111/j.1469-7610.2004.t01-1-00297.x

By:

Cornish, K.M.;
Turk, J.;
Wilding, J.;
Sudhalter, V.;
Munir, F.;
Kooy, F.;
Hagerman, R.

Publication type:

Article

The Primary Ciliary Deficits in Cerebellar Bergmann Glia of the Mouse Model of Fragile X Syndrome.

Published in:

Cerebellum, 2022, v. 21, n. 5, p. 801, doi. 10.1007/s12311-022-01382-8

By:

Lee, Bumwhee;
Beuhler, Laura;
Lee, Hye Young

Publication type:

Article

POLG-Associated Ataxia Presenting as a Fragile X Tremor/Ataxia Phenocopy Syndrome.

Published in:

Cerebellum, 2016, v. 15, n. 5, p. 632, doi. 10.1007/s12311-016-0777-x

By:

Paucar, Martin;
Engvall, Martin;
Gordon, Lisa;
Tham, Emma;
Synofzik, Matthis;
Svenningsson, Per

Publication type:

Article

Altered Bioenergetics in Primary Dermal Fibroblasts from Adult Carriers of the FMR1 Premutation Before the Onset of the Neurodegenerative Disease Fragile X-Associated Tremor/Ataxia Syndrome.

Published in:

Cerebellum, 2016, v. 15, n. 5, p. 552, doi. 10.1007/s12311-016-0779-8

By:

Napoli, Eleonora;
Song, Gyu;
Wong, Sarah;
Hagerman, Randi;
Giulivi, Cecilia

Publication type:

Article

Executive Dysfunction in Female FMR1 Premutation Carriers.

Published in:

Cerebellum, 2016, v. 15, n. 5, p. 565, doi. 10.1007/s12311-016-0782-0

By:

Shelton, Annie;
Cornish, Kim;
Kraan, Claudine;
Lozano, Reymundo;
Bui, Minh;
Fielding, Joanne

Publication type:

Article

Carriage of One or Two FMR1 Premutation Alleles Seems to Have No Effect on Illness Severity in a FXTAS Female with an Autozygous FMR1 Premutation Allele.

Published in:

Cerebellum, 2016, v. 15, n. 5, p. 570, doi. 10.1007/s12311-016-0783-z

By:

Rodriguez-Revenga, Laia;
Pagonabarraga, Javier;
Gómez-Anson, Beatriz;
López-Mourelo, Olga;
Izquierdo, Silvia;
Alvarez-Mora, Maria;
Granell, Esther;
Madrigal, Irene;
Milà, Montserrat

Publication type:

Article

PSP-CBS with Dopamine Deficiency in a Female with a FMR1 Premutation.

Published in:

Cerebellum, 2016, v. 15, n. 5, p. 636, doi. 10.1007/s12311-016-0793-x

By:

Paucar, Martin;
Beniaminov, Stanislav;
Paslawski, Wojciech;
Svenningsson, Per

Publication type:

Article

Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Motor Dysfunction Modeled in Mice.

Published in:

Cerebellum, 2016, v. 15, n. 5, p. 611, doi. 10.1007/s12311-016-0797-6

By:

Foote, Molly;
Arque, Gloria;
Berman, Robert;
Santos, Mónica

Publication type:

Article

Cerebellar Mild Iron Accumulation in a Subset of FMR1 Premutation Carriers with FXTAS.

Published in:

Cerebellum, 2016, v. 15, n. 5, p. 641, doi. 10.1007/s12311-016-0798-5

By:

Rogers, Hailee;
Ariza, Jeanelle;
Monterrubio, Angela;
Hagerman, Paul;
Martínez-Cerdeño, Verónica

Publication type:

Article

Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers.

Published in:

Cerebellum, 2016, v. 15, n. 5, p. 578, doi. 10.1007/s12311-016-0799-4

By:

Hall, Deborah;
Robertson, Erin;
Shelton, Annie;
Losh, Molly;
Mila, Montserrat;
Moreno, Esther;
Gomez-Anson, Beatriz;
Martínez-Cerdeño, Verónica;
Grigsby, Jim;
Lozano, Reymundo;
Hagerman, Randi;
Maria, Lorena;
Berry-Kravis, Elizabeth;
O'Keefe, Joan

Publication type:

Article

Molecular Pathophysiology of Fragile X-Associated Tremor/Ataxia Syndrome and Perspectives for Drug Development.

Published in:

Cerebellum, 2016, v. 15, n. 5, p. 599, doi. 10.1007/s12311-016-0800-2

By:

Botta-Orfila, Teresa;
Tartaglia, Gian;
Michalon, Aubin

Publication type:

Article

Fragile X Premutation Carrier Epidemiology and Symptomatology in Israel-Results from a Tertiary Child Developmental Center.

Published in:

Cerebellum, 2016, v. 15, n. 5, p. 595, doi. 10.1007/s12311-016-0804-y

By:

Gabis, Lidia;
Gruber, Noah;
Berkenstadt, Michal;
Shefer, Shahar;
Attia, Odelia;
Mula, Dana;
Cohen, Yoram;
Elizur, Shai

Publication type:

Article

Aging in Fragile X Premutation Carriers.

Published in:

Cerebellum, 2016, v. 15, n. 5, p. 587, doi. 10.1007/s12311-016-0805-x

By:

Lozano, Reymundo;
Saito, Naomi;
Reed, Dallas;
Eldeeb, Marwa;
Schneider, Andrea;
Hessl, David;
Tassone, Flora;
Beckett, Laurel;
Hagerman, Randi

Publication type:

Article

Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series.

Published in:

Cerebellum, 2016, v. 15, n. 5, p. 623, doi. 10.1007/s12311-016-0809-6

By:

Debrey, Sarah;
Leehey, Maureen;
Klepitskaya, Olga;
Filley, Christopher;
Shah, Raj;
Kluger, Benzi;
Berry-Kravis, Elizabeth;
Spector, Elaine;
Tassone, Flora;
Hall, Deborah

Publication type:

Article

A Majority of FXTAS Cases Present with Intranuclear Inclusions Within Purkinje Cells.

Published in:

Cerebellum, 2016, v. 15, n. 5, p. 546, doi. 10.1007/s12311-016-0776-y

By:

Ariza, Jeanelle;
Rogers, Hailee;
Monterrubio, Angela;
Reyes-Miranda, Adriana;
Hagerman, Paul;
Martínez-Cerdeño, Verónica

Publication type:

Article

Gait and Functional Mobility Deficits in Fragile X-Associated Tremor/Ataxia Syndrome.

Published in:

Cerebellum, 2016, v. 15, n. 4, p. 475, doi. 10.1007/s12311-015-0714-4

By:

O'Keefe, Joan;
Robertson-Dick, Erin;
Hall, Deborah;
Berry-Kravis, Elizabeth

Publication type:

Article

Characterization and Early Detection of Balance Deficits in Fragile X Premutation Carriers With and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).

Published in:

Cerebellum, 2015, v. 14, n. 6, p. 650, doi. 10.1007/s12311-015-0659-7

By:

O'Keefe, Joan;
Robertson-Dick, Erin;
Dunn, Emily;
Li, Yan;
Deng, Youping;
Fiutko, Amber;
Berry-Kravis, Elizabeth;
Hall, Deborah

Publication type:

Article

Which Approach is Better: Bilateral Versus Unilateral Thalamic Deep Brain Stimulation in Patients with Fragile X-Associated Tremor Ataxia Syndrome.

Published in:

Cerebellum, 2014, v. 13, n. 2, p. 222, doi. 10.1007/s12311-013-0530-7

By:

Mehanna, R.;
Itin, I.

Publication type:

Article

Reorganization of Circuits Underlying Cerebellar Modulation of Prefrontal Cortical Dopamine in Mouse Models of Autism Spectrum Disorder.

Published in:

Cerebellum, 2013, v. 12, n. 4, p. 547, doi. 10.1007/s12311-013-0462-2

By:

Rogers, Tiffany;
Dickson, Price;
McKimm, Eric;
Heck, Detlef;
Goldowitz, Dan;
Blaha, Charles;
Mittleman, Guy

Publication type:

Article

Cerebellar Disorders in Childhood: Cognitive Problems.

Published in:

Cerebellum, 2008, v. 7, n. 4, p. 607, doi. 10.1007/s12311-008-0083-3

By:

Steinlin, Maja

Publication type:

Article

THE CHANGING LANDSCAPE OF CARRIER SCREENING: EXPANDING TECHNOLOGY AND OPTIONS?

Published in:

Health Matrix: Journal of Law-Medicine, 2013, v. 23, n. 1, p. 15

By:

McGowan, Michelle L.;
Cho, Deborah;
Sharp, Richard R.

Publication type:

Article

An Integrated Support System for People with Intellectual Disability.

Published in:

Electronics (2079-9292), 2023, v. 12, n. 18, p. 3803, doi. 10.3390/electronics12183803

By:

Papadogiorgaki, Maria;
Grammalidis, Nikos;
Grammatikopoulou, Athina;
Apostolidis, Konstantinos;
Bei, Ekaterini S.;
Grigoriadis, Kostas;
Zafeiris, Stylianos;
Livanos, George;
Mezaris, Vasileios;
Zervakis, Michalis E.

Publication type:

Article

A methylation specific high-resolution melt assay for the detection of mosaicism in Fragile X Syndrome patients.

Published in:

New Zealand Journal of Medical Laboratory Science, 2020, v. 74, n. 2, p. 152

By:

van Dyk, Rachel;
Raizis, Tony

Publication type:

Article