Works matching DE "FRAGILE X syndrome"

Results: 2186

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

Intermediate and expanded FMR1 alleles in an autistic Costa Rican population.

Published in:

Revista Mexicana de Neurociencia, 2022, v. 23, n. 2, p. 51, doi. 10.24875/RMN.21000044

By:

Vindas-Smith, Rebeca;
Sequeira-Cordero, Andrey;
Castro-Volio, Isabel;
Jiménez-González, Patricia;
Cuenca, Patricia;
Saborío-Rocafort, Manuel;
Fallas, Marietha;
Vásquez, Melissa

Publication type:

Article

Fragile X syndrome and your child.

Published in:: Patient Care (Print), 1997, v. 31, n. 14, p. 165
Publication type:: Article

Meeting the challenge of fragile X syndrome.

Published in:: Patient Care (Print), 1997, v. 31, n. 14, p. 146
Publication type:: Article

The role of selected postsynaptic scaffolding proteins at glutamatergic synapses in autism-related animal models.

Published in:

Journal of Integrative Neuroscience, 2021, v. 20, n. 4, p. 1047, doi. 10.31083/j.jin2004106

By:

Meliskova, Veronika;
Havranek, Tomas;
Bacova, Zuzana;
Bakos, Jan

Publication type:

Article

The CpG island of the FMR-1 gene is methylated differently among embryonic tissues: implication for prenatal diagnosis.

Published in:

1994

By:

Iida, Taku;
Nakahori, Yutaka;
Tsutsumi, Osamu;
Taketani, Yuji;
Nakagome, Yasuo;
Iida, T;
Nakahori, Y;
Tsutsumi, O;
Taketani, Y;
Nakagome, Y

Publication type:

journal article

اعتبارسنجی MS-PCR و تعیین پیش جهش ژن FMR1 در نارسایی زودرس تخمدان.

Published in:

Medical Journal of Tabriz University of Medical Sciences, 2022, v. 44, n. 4, p. 317, doi. 10.34172/mj.2022.032

By:

فاطمه افخمی;
شیرین شهبازی;
لعیا فرزدی;
معصومه عزیزی

Publication type:

Article

Yaş Alan Bireylerde Kırılganlık ve Sosyal İzolasyona Bir Bakış.

Published in:

Journal of Ege University Nursing Faculty (JEUNF), 2024, v. 40, n. 1, p. 155, doi. 10.53490/egehemsire.1077201

By:

OKSEL, Esra;
TURAN, Sultan

Publication type:

Article

Delayed Diagnosis of Fragile X Syndrome--United States, 1990--1999.

Published in:: MMWR: Morbidity & Mortality Weekly Report, 2002, v. 51, n. 33, p. 740
Publication type:: Article

Mineral elements and adiposity-related consequences in adolescents with intellectual disabilities.

Published in:

BMC Molecular & Cell Biology, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s12860-023-00490-5

By:

Alghadir, Ahmad H.;
Gabr, Sami A.;
Iqbal, Amir

Publication type:

Article

Phosphodiesterase 4D activity in acrodysostosis-associated neural pathology: too much or too little?

Published in:

Brain Communications, 2024, v. 6, n. 4, p. 1, doi. 10.1093/braincomms/fcae225

By:

Gardner, Oliver F W;
Bai, Tianshu;
Baillie, George S;
Ferretti, Patrizia

Publication type:

Article

Computing a cure for fragile-X syndrome.

Published in:

2024

By:

Mohamad, Teddy;
Lepage, Jean-François

Publication type:

Letter to the Editor

Repeating themes of plastic genes and therapeutic schemes targeting the 'tandem repeatome'.

Published in:

Brain Communications, 2024, v. 6, n. 2, p. 1, doi. 10.1093/braincomms/fcae047

By:

Hannan, Anthony J

Publication type:

Article

A novel combination treatment for fragile X syndrome predicted using computational methods.

Published in:

Brain Communications, 2024, v. 6, n. 1, p. 1, doi. 10.1093/braincomms/fcad353

By:

Chadwick, Wayne;
Angulo-Herrera, Ivan;
Cogram, Patricia;
Deacon, Robert J M;
Mason, Daniel J;
Brown, David;
Roberts, Ian;
O'Donovan, Daniel J;
Tranfaglia, Michael R;
Guilliams, Tim;
Thompson, Neil T

Publication type:

Article

Dysregulation and restoration of translational homeostasis in fragile X syndrome.

Published in:

2015

By:

Richter, Joel D.;
Bassell, Gary J.;
Klann, Eric

Publication type:

journal article

Neurodevelopmental disorders: Developmental delays.

Published in:

Nature Reviews Neuroscience, 2015, v. 16, n. 1, p. 2, doi. 10.1038/nrn3889

By:

Whalley, Katherine

Publication type:

Article

Neurodevelopmental disorders: Lovastatin as fragile X therapy.

Published in:

Nature Reviews Neuroscience, 2013, v. 14, n. 3, p. 156, doi. 10.1038/nrn3459

By:

Flight, Monica Hoyos

Publication type:

Article

Neurodevelopmental disorders: Tackling fragile X by curbing translation.

Published in:

Nature Reviews Neuroscience, 2012, v. 13, n. 12, p. 812, doi. 10.1038/nrn3388

By:

Jones, Rachel

Publication type:

Article

Synaptic physiology: Meeting point for autism and fragile X syndrome.

Published in:

Nature Reviews Neuroscience, 2012, v. 13, n. 11, p. 740, doi. 10.1038/nrn3368

By:

Lewis, Sian

Publication type:

Article

Neurodevelopmental disorders: Fragile signalling.

Published in:

Nature Reviews Neuroscience, 2012, v. 13, n. 11, p. 739, doi. 10.1038/nrn3375

By:

Yates, Darran

Publication type:

Article

Neurodevelopmental disorders: Reversing the fragile X phenotype.

Published in:

2012

By:

Whalley, Katherine

Publication type:

journal article

Neurodevelopmental disorders: a fragile synaptic balance.

Published in:

2012

By:

Whalley, Katherine

Publication type:

journal article

Early communication development in infants and toddlers with Fragile X syndrome.

Published in:

Autism & Developmental Language Impairments, 2022, v. 7, p. 1, doi. 10.1177/23969415221099403

By:

Mattie, Laura J;
Hamrick, Lisa R

Publication type:

Article

Early communication development in infants and toddlers with Fragile X syndrome.

Published in:

Autism & Developmental Language Impairments, 2022, v. 7, p. 1, doi. 10.1177/23969415221099403

By:

Mattie, Laura J.;
Hamrick, Lisa R.

Publication type:

Article

Etiological, clinical, and laboratory evaluation of congenital hypothyroidism and determination of levothyroxine (LT4) dose at treatment interruption in differentiating permanent vs. transient patients.

Published in:

Turkish Journal of Medical Sciences, 2022, v. 52, n. 6, p. 1863, doi. 10.55730/1300-0144.5533

By:

DÜNDAR, İsmail;
BÜYÜKAVCI, Mehmet Akif;
ÇİFTÇİ, Nurdan

Publication type:

Article

ПАЦИЕНТ С МЕТАБОЛИТЕН СИНДРОМ, ЗАХАРЕН ДИАБЕТ ТИП 1 И СИНДРОМ НА ЧУПЛИВАТА Х-ХРОМОЗОМА – КЛИНИЧЕН СЛУЧАЙ.

Published in:

General Medicine / Obsta Medicina, 2022, v. 24, n. 4, p. 43

By:

Станчев, П.;
Бечева, Е.;
Антонов, П.;
Цигаровски, Г.;
Асенова, Р.

Publication type:

Article

ПАЦИЕНТ С МЕТАБОЛИТЕН СИНДРОМ, ЗАХАРЕН ДИАБЕТ ТИП 1 И СИНДРОМ НА ЧУПЛИВАТА Х-ХРОМОЗОМА – КЛИНИЧЕН СЛУЧАЙ.

Published in:

General Medicine / Obsta Medicina, 2022, v. 24, n. 4, p. 43

By:

Станчев, П.;
Бечева, Е.;
Антонов, П.;
Цигаровски, Г.;
Асенова, Р.

Publication type:

Article

A-067 Behavior and Blood Biomarker Differences for Children with Fragile X Syndrome and Idiopathic Autism.

Published in:: 2020
Publication type:: Abstract

Factors associated with vulnerability and fragility in the elderly: a cross-sectional study.

Published in:

Revista Brasileira de Enfermagem, 2022, v. 75, n. 2, p. 1, doi. 10.1590/0034-7167-2020-0399

By:

Ribeiro de Sousa, Caroline;
Victor Coutinho, Janaína Fonseca;
Freire Neto, João Bastos;
Bastos Barbosa, Rachel Gabriel;
Braga Marques, Marília;
Diniz, Jamylle Lucas

Publication type:

Article

Molecular analysis of fragile X syndrome (FXS) among Malaysian patients with developmental disability.

Published in:

Malaysian Journal of Pathology, 2017, v. 39, n. 2, p. 99

By:

ALI, Ernie Zuraida;
YAKOB, Yusnita;
MD DESA, Norsiah;
ISHAK, Taufik;
ZAKARIA, Zubaidah;
Lock-Hock NGU;
Wee-Teik KENG

Publication type:

Article

Restoring cerebellardependent learning.

Published in:

eLife, 2024, p. 1, doi. 10.7554/eLife.92543

By:

VERPEUT, JESSICA L

Publication type:

Article

FMRP regulates postnatal neuronal migration via MAP1B.

Published in:

eLife, 2024, p. 1, doi. 10.7554/eLife.88782

By:

Messaoudi, Salima;
Allam, Ada;
Stoufflet, Julie;
Paillard, Theo;
Le Ven, Anaïs;
Fouquet, Coralie;
Doulazmi, Mohamed;
Trembleau, Alain;
Caille, Isabelle

Publication type:

Article

Circuit-based intervention corrects excessive dentate gyrus output in the fragile X mouse model.

Published in:

eLife, 2024, p. 1, doi. 10.7554/eLife.92563

By:

Pan-Yue Deng;
Kumar, Ajeet;
Cavalli, Valeria;
Klyachko, Vitaly A.

Publication type:

Article

Parkinson's Disease Polygenic Risk Score and Neurological Involvement in Carriers of the FMR1 Premutation Allele: A Case for Genetic Modifier.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70043

By:

Loesch, Danuta Z.;
Chafota, Freddy;
Bui, Minh Q.;
Storey, Elsdon;
Atkinson, Anna;
Martin, Nicholas G.;
Gordon, Scott D.;
Rentería, Miguel E.;
Hagerman, Randi J.;
Tassone, Flora

Publication type:

Article

Clinical application value of pre‐pregnancy carrier screening in Chinese Han childbearing population.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 4, p. 1, doi. 10.1002/mgg3.2425

By:

Tan, Li;
Qi, Yuefan;
Zhao, Peijuan;
Cheng, LanLan;
Yu, Guo;
Zhao, Dongmei;
Song, Yu Xia;
Xiang, Yun Gai

Publication type:

Article

Genetic analysis and outcomes of Omani children with steroid‐resistant nephrotic syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 9, p. 1, doi. 10.1002/mgg3.2201

By:

Al Riyami, Mohamed S.;
Al Alawi, Intisar;
Al Gaithi, Badria;
Al Maskari, Anisa;
Al Kalbani, Naifain;
Al Hashmi, Nadia;
Al Balushi, Aisha;
Al Shahi, Maryam;
Al Saidi, Suliman;
Al Bimani, Muna;
Al Hatali, Fahad;
Mabillard, Holly;
Sayer, John A.

Publication type:

Article

3q29 microduplication syndrome: New evidence for the refinement of the critical region.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 4, p. 1, doi. 10.1002/mgg3.2130

By:

Bauleo, Alessia;
Pace, Vincenza;
Montesanto, Alberto;
De Stefano, Laura;
Brando, Rossella;
Puntorieri, Domenica;
Cento, Luca;
Genuardi, Maurizio;
Falcone, Elena

Publication type:

Article

Cohen syndrome in two patients from China.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 12, p. 1, doi. 10.1002/mgg3.2053

By:

Gong, Jiaoe;
Zhang, Lily;
Long, Yanwei;
Xiao, Bo;
Long, Hongyu

Publication type:

Article

Neurodevelopmental disorder with dystonia due to SOX6 mutations.

Published in:

2022

By:

Schneider, Susanne A.;
Mueller, Christine;
Biskup, Saskia;
Fietzek, Urban M.;
Schroeder, Andreas Sebastian

Publication type:

Case Study

Descriptive analysis of seizures and comorbidities associated with fragile X syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 8, p. 1, doi. 10.1002/mgg3.2001

By:

Albizua, Igor;
Charen, Krista;
Shubeck, Lisa;
Talboy, Amy;
Berry‐Kravis, Elizabeth;
Kaufmann, Walter E.;
Stallworth, Jennifer L.;
Drazba, Katy T.;
Erickson, Craig A.;
Sweeney, John A.;
Tartaglia, Nicole;
Warren, Steven F.;
Hagerman, Randi;
Sherman, Stephanie L.;
Warren, Stephen T.;
Jin, Peng;
Allen, Emily G.

Publication type:

Article

Yield of array‐CGH analysis in Tunisian children with autism spectrum disorder.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 8, p. 1, doi. 10.1002/mgg3.1939

By:

Chehbani, Fethia;
Tomaiuolo, Pasquale;
Picinelli, Chiara;
Baccarin, Marco;
Castronovo, Paola;
Scattoni, Maria Luisa;
Gaddour, Naoufel;
Persico, Antonio M.

Publication type:

Article

A novel FOXP3 mutation in a Chinese child with IPEX‐associated membranous nephropathy.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 6, p. 1, doi. 10.1002/mgg3.1945

By:

Tan, Liwen;
An, Yunfei;
Yang, Qin;
Yang, Haiping;
Zhang, Gaofu;
Li, Qiu;
Wang, Mo

Publication type:

Article

Implementation of fragile X syndrome carrier screening during prenatal diagnosis: A pilot study at a single center.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1711

By:

Xi, Hui;
Xie, Wanqin;
Chen, Jing;
Tang, Wanglan;
Deng, Xiuli;
Li, Hua;
Peng, Ying;
Wang, Dan;
Yang, Shuting;
Zhang, Yanan;
Duan, Ranhui;
Fang, Junqun;
Wang, Hua

Publication type:

Article

Negotiating political power and stigma around fragile X Syndrome in a rural village in Cameroon: A tale of a royal family and a community.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1615

By:

Kengne Kamga, Karen;
Munung, Nchangwi Syntia;
Nguefack, Séraphin;
Wonkam, Ambroise;
De Vries, Jantina

Publication type:

Article

Development of Chinese genetic reference panel for Fragile X Syndrome and its application to the screen of 10,000 Chinese pregnant women and women planning pregnancy.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 6, p. 1, doi. 10.1002/mgg3.1236

By:

Gao, Fei;
Huang, Wen;
You, Yanjun;
Huang, Jie;
Zhao, Juan;
Xue, Jin;
Kang, Huaixing;
Zhu, Yingbao;
Hu, Zhengmao;
Allen, Emily G.;
Jin, Peng;
Xia, Kun;
Duan, Ranhui

Publication type:

Article

Fragile X syndrome carrier screening accompanied by genetic consultation has clinical utility in populations beyond those recommended by guidelines.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 12, p. N.PAG, doi. 10.1002/mgg3.1024

By:

Johansen Taber, Katherine;
Lim‐Harashima, Jeraldine;
Naemi, Harris;
Goldberg, Jim

Publication type:

Article

Metformin treatment in young children with fragile X syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 11, p. N.PAG, doi. 10.1002/mgg3.956

By:

Biag, Hazel Maridith B.;
Potter, Laura A.;
Wilkins, Victoria;
Afzal, Sumra;
Rosvall, Alexis;
Salcedo‐Arellano, Maria Jimena;
Rajaratnam, Akash;
Manzano‐Nunez, Ramiro;
Schneider, Andrea;
Tassone, Flora;
Rivera, Susan M.;
Hagerman, Randi J.

Publication type:

Article

Cognitive and behavioral improvement in adults with fragile X syndrome treated with metformin‐two cases.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 7, p. N.PAG, doi. 10.1002/mgg3.745

By:

Protic, Dragana;
Aydin, Elber Y.;
Tassone, Flora;
Tan, Maria M.;
Hagerman, Randi J.;
Schneider, Andrea

Publication type:

Article

Hemophilia B in a female with intellectual disability caused by a deletion of Xq26.3q28 encompassing the F9.

Published in:

Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 6, p. 1220, doi. 10.1002/mgg3.425

By:

Stoof, Sara C. M.;
Kersseboom, Rogier;
Vries, Femke A. T.;
Kruip, Marieke J. H. A.;
Kievit, Anneke J. A.;
Leebeek, Frank W. G.

Publication type:

Article